Pedigree

• 

  Subject Areas on Research

  • A Genocentric Approach to Discovery of Mendelian Disorders. 
  • A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion. 
  • A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets. 
  • A Rare Mutation of β1-Adrenergic Receptor Affects Sleep/Wake Behaviors. 
  • A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. 
  • A cardiac arrhythmia syndrome caused by loss of ankyrin-B function. 
  • A combined genomewide linkage scan of 1,233 families for prostate cancer-susceptibility genes conducted by the international consortium for prostate cancer genetics. 
  • A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect. 
  • A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group. 
  • A conserved sorting-associated protein is mutant in chorea-acanthocytosis. 
  • A de novo frame-shift mutation in the tuberin gene. 
  • A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. 
  • A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34. 
  • A duplication in chromosome 4q35 is associated with hereditary benign intraepithelial dyskeratosis. 
  • A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region. 
  • A fatal x-linked recessive reticuloendothelial syndrome with hyperglobulinemia. X-linked recessive reticuloendotheliosis. 
  • A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations. 
  • A fragile X male with a broad smear on Southern blot analysis representing 100-500 CGG repeats and no methylation at the EagI site of the FMR-1 gene. 
  • A functional alternative splicing mutation in human tryptophan hydroxylase-2. 
  • A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10. 
  • A gene for familial venous malformations maps to chromosome 9p in a second large kindred. 
  • A germline mutation at the extreme 3' end of the APC gene results in a severe desmoid phenotype and is associated with overexpression of beta-catenin in the desmoid tumor. 
  • A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). 
  • A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. 
  • A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). 
  • A lack of genetic linkage of renin gene restriction fragment length polymorphisms with human hypertension. 
  • A large kindred of early-onset osteoarthritis of the knee and hip: excluding the link to COL2A1 gene. 
  • A locus for cerebral cavernous malformations maps to chromosome 7q in two families. 
  • A locus for generalized tonic-clonic seizure susceptibility maps to chromosome 10q25-q26. 
  • A mechanism for gene-environment interaction in the etiology of congenital scoliosis. 
  • A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. 
  • A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. 
  • A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12. 
  • A new locus for familial FSGS on chromosome 2p. 
  • A new probe for the diagnosis of myotonic muscular dystrophy. 
  • A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive. 
  • A novel beta-globin mutation, beta Durham-NC [beta 114 Leu-->Pro], produces a dominant thalassemia-like phenotype. 
  • A novel mutation in the erythropoietin receptor gene is associated with familial erythrocytosis. 
  • A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report. 
  • A novel rhodopsin point mutation, proline-170-histidine, associated with sectoral retinitis pigmentosa. 
  • A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans. 
  • A past mutation at isoleucine 397 is now a common cause of moderate/mild haemophilia B. 
  • A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. 
  • A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. 
  • A second locus for familial high myopia maps to chromosome 12q. 
  • A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12. 
  • A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 
  • A syndrome of autosomal dominant alternating hemiplegia: clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations. 
  • A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27. 
  • A variable age of onset segregation model for linkage analysis, with correction for ascertainment, applied to glioma. 
  • A very large Brazilian pedigree with 11778 Leber's hereditary optic neuropathy. 
  • ADA-SCID with 'WAZA-ARI' mutations that synergistically abolished ADA protein stability. 
  • ADA2 deficiency (DADA2) associated with Evans syndrome and a severe ADA2 genotype. 
  • ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. 
  • APC I1307K and the risk of prostate cancer. 
  • Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors. 
  • Absence of association of asporin polymorphisms and osteoarthritis susceptibility in US Caucasians. 
  • Absence of linkage of ABO blood group locus to familial tuberous sclerosis. 
  • Accounting for linkage in family-based tests of association with missing parental genotypes. 
  • Adenosine deaminase deficiency in adults. 
  • Affected-sib-pair interval mapping and exclusion for complex genetic traits: sampling considerations. 
  • African-American heredity prostate cancer study: a model for genetic research. 
  • Allelic and locus heterogeneity in inherited venous malformations. 
  • Alterations of the X-linked lymphoproliferative disease gene SH2D1A in common variable immunodeficiency syndrome. 
  • Alzheimer's disease and apolipoprotein E-4 allele in an Amish population. 
  • Alzheimer's disease: genetic aspects and associated clinical disorders. 
  • An Ehlers-Danlos syndrome type VIA patient with cystic malformations of the meninges. 
  • An HLA class II region restriction fragment length polymorphism (RFLP) in patients with dermatitis herpetiformis: association with HLA-DP phenotype. 
  • An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS. 
  • An autosomal genomic screen for dementia in an extended Amish family. 
  • An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. 
  • An inherited disorder with splenomegaly, cytopenias, and vision loss. 
  • An international collaborative family-based whole-genome linkage scan for high-grade myopia. 
  • An investigation of genetic heterogeneity and linkage disequilibrium in 161 families with spinal muscular atrophy. 
  • An ultrastructural investigation of an early manifestation of the posterior polymorphous dystrophy of the cornea. 
  • An unusual variant of familial preexcitation. 
  • Analysis of DNA methylation in a three-generation family reveals widespread genetic influence on epigenetic regulation. 
  • Analysis of a large pedigree with elliptocytosis, multiple lipomatosis, and biological false-positive serological test for syphilis. 
  • Analysis of association between Alzheimer disease and the K variant of butyrylcholinesterase (BCHE-K). 
  • Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. 
  • Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromes. 
  • Analysis of the RELN gene as a genetic risk factor for autism. 
  • Analysis of the Stargardt disease gene (ABCR) in age-related macular degeneration. 
  • Analytical DNA fingerprinting in lions: parentage, genetic diversity, and kinship. 
  • Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity. 
  • Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. 
  • Apolipoprotein E controls the risk and age at onset of Parkinson disease. 
  • Applying family analyses to electronic health records to facilitate genetic research. 
  • Are depressed outpatients with and without a family history of substance use disorder different? A baseline analysis of the STAR*D cohort. 
  • Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis. 
  • Association analysis of 9,560 prostate cancer cases from the International Consortium of Prostate Cancer Genetics confirms the role of reported prostate cancer associated SNPs for familial disease. 
  • Association between the neuron-specific RNA-binding protein ELAVL4 and Parkinson disease. 
  • Association of SLC11A1 with tuberculosis and interactions with NOS2A and TLR2 in African-Americans and Caucasians. 
  • Atypical features of familial hemophagocytic lymphohistiocytosis. 
  • Autism and the serotonin transporter: the long and short of it. 
  • Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation. 
  • Autosomal dominant cataracts of the fetus: early detection by transvaginal ultrasound. 
  • Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13. 
  • Autosomal dominant multiple cylindromas associated with solitary lung cylindroma. 
  • Autosomal dominantly inherited generalized basaloid follicular hamartoma syndrome: report of a new disease in a North Carolina family. 
  • Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. 
  • Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. 
  • BRCA1 maps proximal to D17S579 on chromosome 17q21 by genetic analysis. 
  • BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes. 
  • Bethlem myopathy is not allelic to limb-girdle muscular dystrophy type 1A. 
  • Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease. 
  • Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation. 
  • Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy. 
  • Bilateral corneal dermoids. 
  • Biomarkers associated with clinical phenotypes of hand osteoarthritis in a large multigenerational family: the CARRIAGE family study. 
  • Blepharophimosis syndrome is linked to chromosome 3q. 
  • Bone marrow and thymus transplantation in ataxia-telangiectasia. 
  • Brief clinical report and review: the Marden-Walker syndrome. 
  • C3 R102G polymorphism increases risk of age-related macular degeneration. 
  • CD8+ T-cell alveolitis in familial pulmonary alveolar microlithiasis. 
  • CKD of Uncertain Etiology: A Systematic Review. 
  • CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age. 
  • CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States. 
  • Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. 
  • Carrier detection in Sanfilippo syndrome type B: report of six families. 
  • Children of Alzheimer patients: an overview. 
  • Children of persons with Alzheimer disease: what does the future hold? 
  • Chorea-acanthocytosis: a report of three new families and implications for genetic counselling. 
  • Chorea-acanthocytosis: genetic linkage to chromosome 9q21. 
  • Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challenge. 
  • Chromosomes 4 and 8 implicated in a genome wide SNP linkage scan of 762 prostate cancer families collected by the ICPCG. 
  • Chronic mucocutaneous candidiasis. Immunologic studies of three generations of a single family. 
  • Clinical and genetic heterogeneity in familial focal segmental glomerulosclerosis. International Collaborative Group for the Study of Familial Focal Segmental Glomerulosclerosis. 
  • Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy. 
  • Clinical and immunologic features of selective IgA deficiency. 
  • Clinical and pathologic features of familial focal segmental glomerulosclerosis. 
  • Clinical characteristics of African-American men with hereditary prostate cancer: the AAHPC Study. 
  • Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin? 
  • Clinical heterogeneity of familial spastic paraplegia linked to chromosome 2p21. 
  • Clinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindred. 
  • Clinical phenotype and linkage analysis of the congenital fibrosis of the extraocular muscles in an Indian family. 
  • Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations. 
  • Clinical, radiological, and genetic similarities between patients with Chiari Type I and Type 0 malformations. 
  • Clinically focused exome sequencing identifies an homozygous mutation that confers DOCK8 deficiency. 
  • Coexistence of macular corneal dystrophy types I and II in a single sibship. 
  • Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish. 
  • Comment on "Identification of Novel G Protein-Coupled Receptor 143 Ligands as Pharmacologic Tools for Investigating X-Linked Ocular Albinism". 
  • Comparison of direct and indirect methods of carrier detection in an X-linked disease. 
  • Complete genomic screen in late-onset familial Alzheimer disease. Evidence for a new locus on chromosome 12. 
  • Component deficiencies. 5. The fifth component. 
  • Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. 
  • Concurrent molecular alterations in tumors with germ line epidermal growth factor receptor T790M mutations. 
  • Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity. 
  • Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22. 
  • Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13 in American families suggests the existence of a second causal mutation. 
  • Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. 
  • Corroboration of a familial chordoma locus on chromosome 7q and evidence of genetic heterogeneity using single nucleotide polymorphisms (SNPs). 
  • De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. 
  • De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 
  • Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance. 
  • Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency. 
  • Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy. 
  • Deficiency of the fifth component of complement in human subjects. Clinical, genetic and immunologic studies in a large kindred. 
  • Deletions in CCM2 are a common cause of cerebral cavernous malformations. 
  • Dental lesions in tumoral calcinosis. 
  • Description of selected characteristics of familial glioma patients - results from the Gliogene Consortium. 
  • Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 
  • Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita. 
  • Direct carrier testing in 14 families with haemophilia B. 
  • Disease Expression and Familial Transmission of Fuchs Endothelial Corneal Dystrophy With and Without CTG18.1 Expansion. 
  • Disease-associated casein kinase I delta mutation may promote adenomatous polyps formation via a Wnt/beta-catenin independent mechanism. 
  • Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene. 
  • Dislocating medial triceps and ulnar neuropathy in three generations of one family. 
  • Dissecting the genetics of human high myopia: a molecular biologic approach. 
  • Distinguishing clinical and electrodiagnostic features of X-linked bulbospinal neuronopathy. 
  • Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma. 
  • Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration. 
  • Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency. 
  • Dominantly inherited epidermal acantholysis in dogs, simulating human benign familial chronic pemphigus (Hailey-Hailey disease). 
  • Duchenne muscular dystrophy: detection of deletion carriers by spectrophotometric densitometry. 
  • Duchenne muscular dystrophy: high frequency of deletions. 
  • Dysregulation of WTI (-KTS) is Associated with the Kidney-Specific Effects of the LMX1B R246Q Mutation. 
  • Dystonia with and without deafness is caused by TIMM8A mutation. 
  • E-Pedigrees: a large-scale automatic family pedigree prediction application. 
  • EMK: a novel program for family-based allelic and genotypic association tests on quantitative traits. 
  • Early diagnosis and treatment of medullary thyroid carcinoma. 
  • Early-onset stroke and vasculopathy associated with mutations in ADA2. 
  • Efficient Genome-Wide Sequencing and Low-Coverage Pedigree Analysis from Noninvasively Collected Samples. 
  • Ehlers-Danlos syndrome type VI results from a nonsense mutation and a splice site-mediated exon-skipping mutation in the lysyl hydroxylase gene. 
  • Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. 
  • Estimating FST and kinship for arbitrary population structures. 
  • Estrogen receptor gene disruption: molecular characterization and experimental and clinical phenotypes. 
  • Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathy. 
  • Evaluation of Lipin 2 as a candidate gene for autosomal dominant 1 high-grade myopia. 
  • Evaluation of the X-linked high-grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies. 
  • Evaluation of transethnic fine mapping with population-specific and cosmopolitan imputation reference panels in diverse Asian populations. 
  • Evidence for genetic heterogeneity supports clinical differences in congenital myasthenic syndromes. 
  • Evidence for genetic homogeneity in a familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML). 
  • Evidence for involvement of GNB1L in autism. 
  • Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37. 
  • Evidence for multiple loci from a genome scan of autism kindreds. 
  • Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration. 
  • Evidence that a locus for familial high myopia maps to chromosome 18p. 
  • Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome. 
  • Exclusion of TIMP3 as a candidate locus in age-related macular degeneration. 
  • Exclusion of identified LGMD1 loci from four dominant limb-girdle muscular dystrophy families. 
  • Exclusion of lumican and fibromodulin as candidate genes in MYP3 linked high grade myopia. 
  • Exercise has a disproportionate role in the pathogenesis of arrhythmogenic right ventricular dysplasia/cardiomyopathy in patients without desmosomal mutations. 
  • Exome Sequence Analysis of 14 Families With High Myopia. 
  • Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered. 
  • Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia. 
  • Expression of exogenous protein in the egg white of transgenic chickens. 
  • Extensive subretinal pigment epithelial deposit in two brothers suffering from dominant retinitis pigmentosa. A histopathological study. 
  • FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG). 
  • Factors associated with the diversification of the gut microbial communities within chimpanzees from Gombe National Park. 
  • Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene. 
  • Familial aggregation of age-related macular degeneration in the Utah population. 
  • Familial aggregation of melanoma, basal cell carcinoma, and gastric adenocarcinoma. 
  • Familial antiphospholipid antibody syndrome: criteria for disease and evidence for autosomal dominant inheritance. 
  • Familial association of primary pulmonary hypertension and a new low-oxygen affinity beta-chain hemoglobinopathy, Hb Washtenaw. 
  • Familial chordoma, a tumor of notochordal remnants, is linked to chromosome 7q33. 
  • Familial clustering of intracerebral hemorrhage: a prospective study in North Carolina. 
  • Familial deficiency of the seventh component of complement associated with recurrent bacteremic infections due to Neisseria. 
  • Familial dermatomyositis. 
  • Familial diaphragmatic agenesis: an autosomal-recessive syndrome with a poor prognosis. 
  • Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene. 
  • Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation. 
  • Familial hyperuricemia and renal insufficiency. 
  • Familial hypocalciuric hypercalcemia in the donor and recipient of a living related donor kidney transplant. 
  • Familial inheritance of a DXS164 deletion mutation from a heterozygous female. 
  • Familial leukoencephalopathy in bipolar disorder. 
  • Familial medullary thyroid carcinoma without associated endocrinopathies: a distinct clinical entity. 
  • Familial polycythemia due to truncations of the erythropoietin receptor. 
  • Familial pulmonary fibrosis in the United States. 
  • Familial segregation of hemangiomas and vascular malformations as an autosomal dominant trait. 
  • Familial spastic paraparesis: evaluation of locus heterogeneity, anticipation, and haplotype mapping of the SPG4 locus on the short arm of chromosome 2. 
  • Familial spinocerebellar degeneration with corneal dystrophy. 
  • Familial transmission of the FMR1 CGG repeat. 
  • Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs. 
  • Familiality of quantitative metabolic traits in Finnish families with non-insulin-dependent diabetes mellitus. Finland-United States Investigation of NIDDM Genetics (FUSION) Study investigators. 
  • Family-Based Genome-Wide Association Study of South Indian Pedigrees Supports WNT7B as a Central Corneal Thickness Locus. 
  • Fast Algorithms for Conducting Large-Scale GWAS of Age-at-Onset Traits Using Cox Mixed-Effects Models. 
  • Female with autistic disorder and monosomy X (Turner syndrome): parent-of-origin effect of the X chromosome. 
  • Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia. 
  • Fine mapping of a genetic locus for Peutz-Jeghers syndrome on chromosome 19p. 
  • Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P. 
  • First report of keratitis in familial cold autoinflammatory syndrome. 
  • Focal segmental glomerulosclerosis: a need for caution in live-related renal transplantation. 
  • Frequency of breast cancer attributable to BRCA1 in a population-based series of American women. 
  • Functional analysis of intra-allelic variation at NACP-Rep1 in the alpha-synuclein gene. 
  • Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6. 
  • Functional characterization of natural telomerase mutations found in patients with hematologic disorders. 
  • Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. 
  • Further evidence for a maternal genetic effect and a sex-influenced effect contributing to risk for human neural tube defects. 
  • Further exclusion of FSHD1B from the telomeric region of 10q. 
  • Further refinement of the MYP2 locus for autosomal dominant high myopia by linkage disequilibrium analysis. 
  • GLIOGENE an International Consortium to Understand Familial Glioma. 
  • Gene by sex interaction in the etiology of coronary heart disease and the preceding metabolic syndrome. 
  • Genealogical histories in structured populations. 
  • Genealogical structure among alleles regulating self-incompatibility in natural populations of flowering plants. 
  • Genetic Correlations Between Diabetes and Glaucoma: An Analysis of Continuous and Dichotomous Phenotypes. 
  • Genetic analysis of a family with hereditary glomuvenous malformations. 
  • Genetic analysis of eight breast-ovarian cancer families with suspected BRCA1 mutations. 
  • Genetic analysis workshop IV: Huntington disease linkage analysis summary. 
  • Genetic diagnosis in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls. 
  • Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14. 
  • Genetic evidence reveals temporal change in hybridization patterns in a wild baboon population. 
  • Genetic genealogy uncovers a founder deletion mutation in the cerebral cavernous malformations 2 gene. 
  • Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures. 
  • Genetic heterogeneity in hereditary haemorrhagic telangiectasia. 
  • Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype. 
  • Genetic heterogeneity of gingival fibromatosis on chromosome 2p. 
  • Genetic linkage analysis of complex genetic traits by using affected sibling pairs. 
  • Genetic linkage analysis of nerve growth factor (beta) in familial Alzheimer's disease. 
  • Genetic linkage mapping of chromosome 17 markers and neurofibromatosis type I. 
  • Genetic linkage of hyper-IgE syndrome to chromosome 4. 
  • Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene. 
  • Genetic linkage studies in Alzheimer's disease families. 
  • Genetic linkage studies in Huntington disease. 
  • Genetic linkage studies of chromosome 17 RFLPs in von Recklinghausen neurofibromatosis (NF1). 
  • Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota. 
  • Genetic mapping of a novel familial form of infantile hemangioma. 
  • Genetic mapping of dinucleotide repeat polymorphisms and von Hippel-Lindau disease on chromosome 3p25-26. 
  • Genetic studies of autistic disorder and chromosome 7. 
  • Genetic transmission of tumoral calcinosis: autosomal dominant with variable clinical expressivity. 
  • Genetics of Human Longevity From Incomplete Data: New Findings From the Long Life Family Study. 
  • Genetics of osteoarthritis. 
  • Genome-scan for IQ discrepancy in autism: evidence for loci on chromosomes 10 and 16. 
  • Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. 
  • Genome-wide association of familial prostate cancer cases identifies evidence for a rare segregating haplotype at 8q24.21. 
  • Genome-wide high-density SNP linkage search for glioma susceptibility loci: results from the Gliogene Consortium. 
  • Genome-wide linkage analysis of 1,233 prostate cancer pedigrees from the International Consortium for Prostate Cancer Genetics using novel sumLINK and sumLOD analyses. 
  • Genome-wide linkage analysis of carotid artery traits in exceptionally long-lived families. 
  • Genome-wide linkage analysis of quantitative biomarker traits of osteoarthritis in a large, multigenerational extended family. 
  • Genome-wide linkage of 77 families from the African American Hereditary Prostate Cancer study (AAHPC). 
  • Genome-wide linkage scan for prostate cancer aggressiveness loci using families from the University of Michigan Prostate Cancer Genetics Project. 
  • Genome-wide linkage scan for prostate cancer susceptibility genes in men with aggressive disease: significant evidence for linkage at chromosome 15q12. 
  • Genome-wide linkage scan in fuchs endothelial corneal dystrophy. 
  • Genomewide ancestry and divergence patterns from low-coverage sequencing data reveal a complex history of admixture in wild baboons. 
  • Genomewide search for type 2 diabetes susceptibility genes in four American populations. 
  • Genomics of Cardiovascular Measures of Autonomic Tone. 
  • Genotype-based association test for general pedigrees: the genotype-PDT. 
  • Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy. 
  • Genotype-phenotype correlations of pheochromocytoma in two large von Hippel-Lindau (VHL) type 2A kindreds with different missense mutations. 
  • Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4. 
  • Germline Genetic IKZF1 Variation and Predisposition to Childhood Acute Lymphoblastic Leukemia. 
  • Germline PTEN mutation Cowden syndrome: an underappreciated form of hereditary kidney cancer. 
  • Germline mutations in HOXB13 and prostate-cancer risk. 
  • Germline mutations in shelterin complex genes are associated with familial glioma. 
  • Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer. 
  • Gln368STOP myocilin mutation in families with late-onset primary open-angle glaucoma. 
  • Glycogen storage disease type IIIa in curly-coated retrievers. 
  • Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder. 
  • Glycogen storage diseases presenting as hypertrophic cardiomyopathy. 
  • HER2 codon 655 polymorphism and risk of breast cancer in African Americans and whites. 
  • HL-A antigenic loss in malignant transformation. 
  • HLA antigens in primary immunodeficiency diseases. 
  • Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders. 
  • Hematologic disorders and nonimmune hydrops fetalis. 
  • Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome. 
  • Hemoglobin Raleigh (beta1 valine replaced by acetylalanine). Structural and functional characterization. 
  • Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome. 
  • Hereditary hemorrhagic telangiectasia: two distinct ENG deletions in one family. 
  • Hereditary motor and sensory neuropathy, X-linked: a half century follow-up. 
  • Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. 
  • Hereditary progressive atrioventricular conduction defect. 
  • Hereditary progressive atrioventricular conduction defect. A new syndrome? 
  • Hereditary prostate cancer as a feature of Lynch syndrome. 
  • Hereditary prostate cancer in African American families: linkage analysis using markers that map to five candidate susceptibility loci. 
  • Hereditary renal disease and preauricular pits: report of a kindred. 
  • Heritability of salt sensitivity in black Americans. 
  • Heterogeneity in Paget disease of the bone. 
  • Heterogeneous association between engrailed-2 and autism in the CPEA network. 
  • Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis. 
  • High-density single nucleotide polymorphism screen in a large multiplex neural tube defect family refines linkage to loci at 7p21.1-pter and 2q33.1-q35. 
  • Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations. 
  • Histocompatibility testing and mixed lymphocyte culture responses in chimpanzee families. 
  • Histocompatibility testing in chimpanzee families. 
  • Homozygous APC-resistance combined with inherited type I protein S deficiency in a young boy with severe thrombotic disease. 
  • Human T-cell lymphotropic virus I and adult T-cell leukemia: report of a cluster in North Carolina. 
  • Human dectin-1 deficiency and mucocutaneous fungal infections. 
  • Human leukocyte antigen matching and fetal loss: results of a 10 year prospective study. 
  • Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. 
  • Human vitamin D receptor mutations: identification of molecular defects in hypocalcemic vitamin D resistant rickets. 
  • Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. 
  • Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7. 
  • Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15. 
  • Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. 
  • Identification of a novel NBN truncating mutation in a family with hereditary prostate cancer. 
  • Identification of a novel germline SPOP mutation in a family with hereditary prostate cancer. 
  • Identification of a novel locus on 2q for autosomal dominant high-grade myopia. 
  • Identification of a pathogenic intronic KIF5A mutation in an ALS-FTD kindred. 
  • Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption. 
  • Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism. 
  • Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis. 
  • Identification of variants in CNGA3 as cause for achromatopsia by exome sequencing of a single patient. 
  • Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. 
  • Idiopathic scoliosis in families of children with congenital scoliosis. 
  • Immunogenetic studies in families of children with juvenile dermatomyositis. 
  • Inadequate antidiuretic hormone secretion after sagittal sinus thrombosis caused by protein S deficiency. 
  • Inbreeding depression in non-human primates: a historical review of methods used and empirical data. 
  • Incompatible bone-marrow transplantation in lymphopenic immunologic deficiency. Circumvention of fatal graft-versus-host disease by immunologic enhancement. 
  • Increasing productivity and reducing errors through usability analysis: a case study and recommendations. 
  • Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections. 
  • Inherited deletion at Duchenne dystrophy locus in normal male. 
  • Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families. 
  • Inherited restrictive cardiomyopathy in a 74-year-old woman: a case of Fabry's disease. 
  • Interpretation of simultaneous linkage and family-based association tests in genome screens. 
  • Interspecific scaling patterns of talar articular surfaces within primates and their closest living relatives. 
  • Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations. 
  • Investigation of Notch3 as a candidate gene for bipolar disorder using brain hyperintensities as an endophenotype. 
  • Isolated sulfite oxidase deficiency: review of two cases in one family. 
  • Juvenile bilateral lens dislocation and glaucoma associated with a novel mutation in the fibrillin 1 gene. 
  • Juvenile rheumatoid arthritis in velo-cardio-facial syndrome: coincidence or unusual complication? 
  • LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. 
  • Lack of association between autism and SLC25A12. 
  • Lack of association of mutations in optineurin with disease in patients with adult-onset primary open-angle glaucoma. 
  • Late-onset ornithine transcarbamylase deficiency in male patients. 
  • Lewy body and Alzheimer pathology in a family with the amyloid-beta precursor protein APP717 gene mutation. 
  • Life with too much polyprenol: polyprenol reductase deficiency. 
  • Life-long bleeding diathesis: effect of orthotopic liver transplantation. 
  • Linkage analysis in familial Alzheimer disease: description of the Duke and Boston data sets. 
  • Linkage analysis in familial amyotrophic lateral sclerosis. 
  • Linkage analysis in the spinal muscular atrophy type of facioscapulohumeral disease. 
  • Linkage analysis of 153 prostate cancer families over a 30-cM region containing the putative susceptibility locus HPCX. 
  • Linkage analysis of familial Alzheimer disease, using chromosome 21 markers. 
  • Linkage analysis of schizophrenia in African-American families. 
  • Linkage disequilibrium and haplotype tagging polymorphisms in the Tau H1 haplotype. 
  • Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. 
  • Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. 
  • Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers. 
  • Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity. 
  • Linkage of a gene causing familial membranoproliferative glomerulonephritis type III to chromosome 1. 
  • Linkage of a gene for macular corneal dystrophy to chromosome 16. 
  • Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. 
  • Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers. 
  • Linkage of familial Wilms' tumor predisposition to chromosome 19 and a two-locus model for the etiology of familial tumors. 
  • Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22. 
  • Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. 
  • Linkage of familial essential tremor to chromosome 5q35. 
  • Linkage of frontotemporal dementia to chromosome 17: clinical and neuropathological characterization of phenotype. 
  • Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35. 
  • Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31. 
  • Linkage studies in Charcot-Marie-Tooth disease type 2: evidence that CMT types 1 and 2 are distinct genetic entities. 
  • Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage. 
  • Linkage studies in familial Alzheimer's disease. 
  • Linkage studies in tuberous sclerosis. Chromosome 9?, 11?, or maybe 14! 
  • Linkage studies of late-onset familial Alzheimer's disease. 
  • Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause. 
  • Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. 
  • Locus heterogeneity, anticipation and reduction of the chromosome 2p minimal candidate region in autosomal dominant familial spastic paraplegia. 
  • Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation. 
  • Mapping of psoriasis to 17q terminus. 
  • Mapping strategies for multiple linked markers. 
  • Maternal lineages and Alzheimer disease risk in the Old Order Amish. 
  • Matroshka and ectopic polymorphisms: Two new classes of DNA sequence variation identified at the Van der Woude syndrome locus on 1q32-q41. 
  • Mesenteric vein thrombosis and vascular plasminogen activator. 
  • Methods for interaction analyses using family-based case-control data: conditional logistic regression versus generalized estimating equations. 
  • Microcephaly, hypergonadotropic hypogonadism, short stature, and minor anomalies: a new syndrome. 
  • Migraine with aura susceptibility locus on chromosome 19p13 is distinct from the familial hemiplegic migraine locus. 
  • Mild cystic fibrosis in a consanguineous family. 
  • Mild cystic fibrosis linked to chromosome 7q22 markers with an uncommon haplotype. 
  • Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy. 
  • Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy. 
  • Mixed lymphocyte responses in a four-generation C2 deficiency family. 
  • Mixed-lymphocyte-culture responses in chimpanzee families. 
  • Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion. 
  • Molecular basis for paradoxical carriers of adenosine deaminase (ADA) deficiency that show extremely low levels of ADA activity in peripheral blood cells without immunodeficiency. 
  • Mosaic partial deletion of the PTEN gene in a patient with Cowden syndrome. 
  • Multifactorial/threshold models and their application to cleft lip and cleft palate. 
  • Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation. 
  • Multilocus mapping of the X-linked hypophosphatemic rickets gene. 
  • Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome. 
  • Multiple myeloma and family history of cancer. A case-control study. 
  • Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. 
  • Mutation analysis of the TSC2 gene in an African-American family. 
  • Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes. 
  • Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. 
  • Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease. 
  • Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers-Danlos syndrome type VI: prenatal exclusion of this disorder in one family. 
  • Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome. 
  • Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation. 
  • Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia. 
  • Mutations in Metabotropic Glutamate Receptor 1 Contribute to Natural Short Sleep Trait. 
  • Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies. 
  • Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. 
  • Mutations in SERPINF1 cause osteogenesis imperfecta type VI. 
  • Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. 
  • Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. 
  • Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. 
  • Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly. 
  • Mutations in the TSGA14 gene in families with autism spectrum disorders. 
  • Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. 
  • Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease. 
  • Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation. 
  • Mutations in the gene that encodes the F-actin binding protein anillin cause FSGS. 
  • Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. 
  • Mutations in the mu heavy-chain gene in patients with agammaglobulinemia. 
  • Myotonia congenita with painful muscle contractions. 
  • NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism. 
  • Natural history of monoclonal B-cell lymphocytosis among relatives in CLL families. 
  • Neuro-oculo-cutaneous cavernous hemangiomas: a CCM1 mutation-associated phakomatosis. 
  • Neuropathological features of frontotemporal dementia and parkinsonism linked to chromosome 17q21-22 (FTDP-17): Duke Family 1684. 
  • New locus for autosomal dominant high myopia maps to the long arm of chromosome 17. 
  • Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects. 
  • North Carolina's dominant progressive foveal dystrophy: how progressive is it? 
  • Novel Brugada SCN5A mutation causing sudden death in children. 
  • Novel NUDT2 variant causes intellectual disability and polyneuropathy. 
  • Novel PAX6 variant in a family with ophthalmologic, pancreatic, and olfactory features. 
  • Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1. 
  • Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 
  • Novel long QT syndrome-associated missense mutation, L762F, in CACNA1C-encoded L-type calcium channel imparts a slower inactivation tau and increased sustained and window current. 
  • Novel missense mutation in the cyclic nucleotide-binding domain of HERG causes long QT syndrome. 
  • Ocular motility in North Carolina autosomal dominant ataxia. 
  • Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3. 
  • Origins and prevalence of the American Founder Mutation of MSH2. 
  • PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing. 
  • PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus. 
  • PSORS2 is due to mutations in CARD14. 
  • Parent-specific expression of a human keratin 18/beta-galactosidase fusion gene in transgenic mice. 
  • Parkin-proven disease: common founders but divergent phenotypes. 
  • Pathology of hereditary retinal degeneration associated with hypobetalipoproteinemia. 
  • Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family. 
  • Pedigree generation for analysis of genetic linkage and association. 
  • Pedigree selection and information content. 
  • Pedigree-based and phylogenetic methods support surprising patterns of mutation rate and spectrum in the gray mouse lemur. 
  • Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy. 
  • Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias. 
  • Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings. 
  • Phenotypic analysis of 303 multiplex families with common epilepsies. 
  • Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy. 
  • Phenotypic definition of Chiari type I malformation coupled with high-density SNP genome screen shows significant evidence for linkage to regions on chromosomes 9 and 15. 
  • Phenotypic heterogeneity in families with age-related macular degeneration. 
  • PhyloOncology: Understanding cancer through phylogenetic analysis. 
  • Pigmented paravenous retinochoroidal atrophy. Discordant expression in monozygotic twins. 
  • Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III. 
  • Polymorphism of DNA sequence in the human pro alpha 2(I) collagen gene. 
  • Potential for expanded power in linkage studies using the ALLEGRO and MERLIN software programs. 
  • Precocious osteoarthritis in a family with recurrent COL2A1 mutation. 
  • Prenatal counseling in heterozygotes for ornithine transcarbamylase deficiency. 
  • Prenatal diagnosis of Duchenne muscular dystrophy by fetal muscle biopsy. 
  • Prenatal exclusion of Ehlers-Danlos syndrome type VI by mutational analysis. 
  • Prenatal genetic diagnosis of Neu-Laxova syndrome. 
  • Presence of large deletions in kindreds with autism. 
  • Presymptomatic and prenatal diagnosis in myotonic dystrophy by genetic linkage studies. 
  • Prevalence of deleterious ATM germline mutations in gastric cancer patients. 
  • Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma. 
  • Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia. 
  • Probability of carrying a mutation of breast-ovarian cancer gene BRCA1 based on family history. 
  • Probable exclusion of GLC1A as a candidate glaucoma gene in a family with middle-age-onset primary open-angle glaucoma. 
  • Providing patient education: impact on quantity and quality of family health history collection. 
  • Quality and quantity of genetic relatedness data affect the analysis of social structure. 
  • Quantitative analysis of phenotypic elements augments traditional electroclinical classification of common familial epilepsies. 
  • RNASEL mutations in hereditary prostate cancer. 
  • Rare variants in tenascin genes in a cohort of children with primary vesicoureteric reflux. 
  • Rarity of the Alzheimer disease-protective APP A673T variant in the United States. 
  • Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder. 
  • Recombination of 4p16 DNA markers in an unusual family with Huntington disease. 
  • Recurrence risks for neural tube defects in siblings of patients with lipomyelomeningocele. 
  • Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs. 
  • Redefining heart failure: the utility of genomics. 
  • Reduced penetrance in a large Caucasian pedigree with Stickler syndrome. 
  • Reduction in the minimum candidate interval in the dominant-intermediate form of Charcot-Marie-Tooth neuropathy to D19S586 to D19S432. 
  • Refined localization of the cerebral cavernous malformation gene (CCM1) to a 4-cM interval of chromosome 7q contained in a well-defined YAC contig. 
  • Refinement of 2q and 7p loci in a large multiplex NTD family. 
  • Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes. 
  • Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing. 
  • Refractory calculation-induced idiopathic generalized epilepsy: a case report and review of the literature. 
  • Regional rearrangements in chromosome 15q21 cause formation of cryptic promoters for the CYP19 (aromatase) gene. 
  • Relationships among breast cancer concern, risk perceptions, and interest in genetic testing for breast cancer susceptibility among African-American women with and without a family history of breast cancer. 
  • Release of tissue plasminogen activator and its fast-acting inhibitor in defective fibrinolysis. 
  • Replication of the recessive STBMS1 locus but with dominant inheritance. 
  • Retrospective family study of childhood medulloblastoma. 
  • Rheumatoid nodulosis. Sporadic and familial diseases. 
  • Risk of Prostate Cancer Associated With Familial and Hereditary Cancer Syndromes. 
  • Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. 
  • Role of BRCA1 mutation screening in the management of familial ovarian cancer. 
  • Role of Genetic Testing for Inherited Prostate Cancer Risk: Philadelphia Prostate Cancer Consensus Conference 2017. 
  • Role of the angiotensin type 2 receptor gene in congenital anomalies of the kidney and urinary tract, CAKUT, of mice and men. 
  • SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia. 
  • SLITRK1 mutations in trichotillomania. 
  • SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects. 
  • SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma. 
  • Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation. 
  • Segregation and linkage analysis of alpha-N-acetyl-D-glucosaminidase (NAG) levels in a black family. 
  • SeqSIMLA2: simulating correlated quantitative traits accounting for shared environmental effects in user-specified pedigree structure. 
  • Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant. 
  • Single nucleotide polymorphisms act as modifiers and correlate with the development of medullary and simultaneous medullary/papillary thyroid carcinomas in 2 large, non-related families with the RET V804M proto-oncogene mutation. 
  • Single-amplicon MSH2 A636P mutation testing in Ashkenazi Jewish patients with colorectal cancer: role in presurgical management. 
  • Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function. 
  • Somatic mutations in VHL germline deletion kindred correlate with mild phenotype. 
  • Steroidogenic factor 1 is the essential transcript of the mouse Ftz-F1 gene. 
  • Stratified whole genome linkage analysis of Chiari type I malformation implicates known Klippel-Feil syndrome genes as putative disease candidates. 
  • Study design for genetic analysis in the Jackson Heart Study. 
  • Study of a US cohort supports the role of ZNF644 and high-grade myopia susceptibility. 
  • Summary of the proceedings of the second international workshop on transplantation genetics of nonhuman primates. 
  • Survey of familial glioma and role of germline p16INK4A/p14ARF and p53 mutation. 
  • Systematic gene mapping in man: data management considerations. 
  • T296----M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection. 
  • TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants. 
  • TBX5-encoded T-box transcription factor 5 variant T223M is associated with long QT syndrome and pediatric sudden cardiac death. 
  • TNXB mutations can cause vesicoureteral reflux. 
  • TP53 intron 1 hotspot rearrangements are specific to sporadic osteosarcoma and can cause Li-Fraumeni syndrome. 
  • TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study. 
  • Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene Consortium. 
  • Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. 
  • Testing for contributions of mitochondrial DNA mutations to complex diseases. 
  • The Genetics of Generalized Osteoarthritis (GOGO) study: study design and evaluation of osteoarthritis phenotypes. 
  • The HOXB13 G84E Mutation Is Associated with an Increased Risk for Prostate Cancer and Other Malignancies. 
  • The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family. 
  • The Mutationathon highlights the importance of reaching standardization in estimates of pedigree-based germline mutation rates. 
  • The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome. 
  • The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. 
  • The alpha-synuclein gene is not a major risk factor in familial Parkinson disease. 
  • The challenge and promise of estimating the de novo mutation rate from whole-genome comparisons among closely related individuals. 
  • The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression. 
  • The ethical and social implications of exploring African American genealogies. 
  • The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. 
  • The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. 
  • The gene for a novel epidermal antigen maps near the neurofibromatosis 1 gene. 
  • The hereditary nature of small cell carcinoma of the ovary, hypercalcemic type: two new familial cases. 
  • The immunogenetics of the major histocompatibility chromosomal region in man. 
  • The impact of disregarding family structure on genome-wide association analysis of complex diseases in cohorts with simple pedigrees. 
  • The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis. 
  • The multiple causes of human SCID. 
  • The polymorphic locus for glycogen storage disease VI (liver glycogen phosphorylase) maps to chromosome 14. 
  • The role of genetic testing for cancer susceptibility in gynecologic practice. 
  • Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities? 
  • Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA. 
  • Three probands with autistic disorder and isodicentric chromosome 15. 
  • Three synchronous primary carcinomas in a patient with HNPCC associated with a novel germline mutation in MLH1: Case report. 
  • Tight linkage of creatine kinase (CKMM) to myotonic dystrophy on chromosome 19. 
  • Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. 
  • Traceback: A Proposed Framework to Increase Identification and Genetic Counseling of BRCA1 and BRCA2 Mutation Carriers Through Family-Based Outreach. 
  • Trade-offs in the effects of the apolipoprotein E polymorphism on risks of diseases of the heart, cancer, and neurodegenerative disorders: insights on mechanisms from the Long Life Family Study. 
  • Transplantation in miniature swine. I. Fixation of the major histocompatibility complex. 
  • Trio-based exome sequencing arrests de novo mutations in early-onset high myopia. 
  • Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance. 
  • Two identical triplet sisters carrying a germline BRCA1 gene mutation acquire very similar breast cancer somatic mutations at multiple other sites throughout the genome. 
  • Type II collagen gene variants and inherited osteonecrosis of the femoral head. 
  • Unbalanced 5;16 translocation in a boy with papillary thyroid carcinoma. 
  • Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31. 
  • Using neural networks as an aid in the determination of disease status: comparison of clinical diagnosis to neural-network predictions in a pedigree with autosomal dominant limb-girdle muscular dystrophy. 
  • Variability in B cell maturation and differentiation in X-linked agammaglobulinemia. 
  • Variations in opsin coding sequences cause x-linked cone dysfunction syndrome with myopia and dichromacy. 
  • Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2. 
  • Venous thrombosis in a family with defective release of vascular plasminogen activator and elevated plasma factor VIII/von Willebrand's factor. 
  • WHIM syndrome caused by a single amino acid substitution in the carboxy-tail of chemokine receptor CXCR4. 
  • Warts and DADA2: a Mere Coincidence? 
  • Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT. 
  • Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis. 
  • Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10. 
  • Whole-exome sequencing of a pedigree segregating asthma. 
  • X-APL: an improved family-based test of association in the presence of linkage for the X chromosome. 
  • X-linked high myopia associated with cone dysfunction. 
  • X-linked malformations of neuronal migration. 
  • X-linked neuropathy: gene localization with DNA probes. 
  • ZCCHC8, the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation. 
  • myotilin Mutation found in second pedigree with LGMD1A. 
• 

  Keywords of People

  • Alberts, Susan C., Robert F. Durden Distinguished Professor of Biology, Duke Science & Society
  • Berchuck, Andrew, James M. Ingram Distinguished Professor of Gynecologic Oncology, Obstetrics and Gynecology, Gynecologic Oncology
  • Buckley, Rebecca Hatcher, James Buren Sidbury Distinguished Professor Emeritus of Pediatrics, in the School of Medicine, Pediatrics, Allergy and Immunology
  • Li, Yi-Ju, Professor of Biostatistics & Bioinformatics, Biostatistics & Bioinformatics
  • Liu, Yutao, Adjunct Assistant Professor in the Department of Medicine, Medicine, Medical Genetics
  • Moorman, Patricia Gripka, Professor Emeritus in Family Medicine and Community Health, Duke Cancer Institute
  • Muir, Kelly Walton, Associate Professor of Ophthalmology, Ophthalmology, Glaucoma
  • Orlando, Lori Ann, Professor of Medicine, Medicine, General Internal Medicine
  • Sparks, Matthew A., Associate Professor of Medicine, Medicine, Nephrology
  • Starmer, Charles Franklin, Professor Emeritus of Computer Science, Computer Science