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Subject Areas on Research
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A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.
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A guide for performing germ cell mutagenesis assays using Drosophila melanogaster.
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A mutation in Arabidopsis that leads to constitutive expression of systemic acquired resistance.
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A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive.
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A novel mutation in IFN-gamma receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states.
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A tripartite interaction among alleles of Notch, Delta, and Enhancer of split during imaginal development of Drosophila melanogaster.
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A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27.
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Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy.
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An N-ethyl-N-nitrosourea mutagenesis recessive screen identifies two candidate regions for murine cardiomyopathy that map to chromosomes 1 and 15.
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Anaesthetic management of a woman with autosomal recessive limb-girdle muscular dystrophy for emergency caesarean section.
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Analysis of a large pedigree with elliptocytosis, multiple lipomatosis, and biological false-positive serological test for syphilis.
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Are Lethal Alleles Too Abundant in Humans?
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Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals.
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Autosomal recessive best vitelliform macular dystrophy: report of a family and management of early-onset neovascular complications.
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Brief clinical report and review: the Marden-Walker syndrome.
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Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery.
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Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.
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Chorea-acanthocytosis: genetic linkage to chromosome 9q21.
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Clinical and pathologic features of familial focal segmental glomerulosclerosis.
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Coat color genetics of Peromyscus: V. California blonde, a new recessive mutation in the deer mouse.
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Combined immunodeficiency disease associated with adenosine deaminase deficiency. Report on a workshop held in Albany, New York, October 1, 1973.
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Comparison of a chemical assay with a tissue-mediated bio-assay for chemical mutagens.
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Cse1l is a negative regulator of CFTR-dependent fluid secretion.
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Defective dendritic cell maturation in a child with nucleotide excision repair deficiency and CD4 lymphopenia.
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Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation.
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Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.
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Deleterious mutations and genetic variation for flower size in Mimulus guttatus.
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Deletions of a DNA sequence in retinoblastomas and mesenchymal tumors: organization of the sequence and its encoded protein.
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Detection and reporting of homozygosity associated with consanguinity in the clinical laboratory.
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Diagnostic and treatment challenges of neuronopathic Gaucher disease: two cases with an intermediate phenotype.
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Dosage-response relationships for methyl methanesulfonate in Drosophila melanogaster spermatozoa: DNA methylation per nucleotide vs. sex-linked recessive lethal frequency.
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Dubowitz syndrome: a defect in the cholesterol biosynthetic pathway?
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Evaluating haplotype effects in case-control studies via penalized-likelihood approaches: prospective or retrospective analysis?
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Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
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Exclusion of identified LGMD1 loci from four dominant limb-girdle muscular dystrophy families.
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Familial diaphragmatic agenesis: an autosomal-recessive syndrome with a poor prognosis.
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Familial spinocerebellar degeneration with corneal dystrophy.
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Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes.
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Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.
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Genetic analysis of MRL-lpr mice: relationship of the Fas apoptosis gene to disease manifestations and renal disease-modifying loci.
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Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures.
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Genetic linkage of hyper-IgE syndrome to chromosome 4.
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Genetic transmission of tumoral calcinosis: autosomal dominant with variable clinical expressivity.
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Genome-wide linkage screen in familial Parkinson disease identifies loci on chromosomes 3 and 18.
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Genome-wide scan for adult onset primary open angle glaucoma.
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Haplotype analysis in Icelandic families defines a minimal interval for the macular corneal dystrophy type I gene.
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Haplotype effects on human survival: logistic regression models applied to unphased genotype data.
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Human red cell antigens. V. Expression of In(Lu)-related p80 antigens by recessive-type Lu(a-b-) red cells.
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Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants.
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Humoral immunodeficiency.
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Identification of a deletion in the adenosine deaminase gene in a child with severe combined immunodeficiency.
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Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15.
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Identification of susceptibility loci contributing to a complex disease using conventional segregation, linkage, and association methods.
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Identification of two genes causing reinforcement in the Texas wildflower Phlox drummondii.
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Identification of yeast mutants with altered telomere structure.
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Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22.
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Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.
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Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis.
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Isolation and characterization of cul1-7, a recessive allele of CULLIN1 that disrupts SCF function at the C terminus of CUL1 in Arabidopsis thaliana.
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LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.
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Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity.
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Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.
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Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers.
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Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q.
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Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35.
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Meiotic mutants that cause a polar decrease in recombination on the X chromosome in Caenorhabditis elegans.
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Microcephaly, hypergonadotropic hypogonadism, short stature, and minor anomalies: a new syndrome.
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Molecular cloning of sequences from a Drosophila RNA polymerase II locus by P element transposon tagging.
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Molecular dosimetry of the mutagen ethyl methanesulfonate in Drosophila melanogaster spermatozoa: linear relation of DNA alkylation per sperm cell (dose) to sex-linked recessive lethals.
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Murine congenital polycystic kidney disease: a model for studying development of cystic disease.
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Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.
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Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness.
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Mutations in activation-induced cytidine deaminase in patients with hyper IgM syndrome.
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Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.
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Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1.
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On the evolution of genetic incompatibility systems. IV. Modification of response to an existing antigen polymorphism under partial selfing.
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Optic nerve compression in infantile malignant autosomal recessive osteopetrosis.
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Ordered-subset analysis (OSA) for family-based association mapping of complex traits.
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PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.
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Parkin-proven disease: common founders but divergent phenotypes.
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Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder.
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Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A.
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Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.
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Potentially functional single nucleotide polymorphisms in the core nucleotide excision repair genes and risk of squamous cell carcinoma of the head and neck.
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Potentially functional variants in the core nucleotide excision repair genes predict survival in Japanese gastric cancer patients.
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Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.
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Relative biological effectiveness of tritiated water to gamma radiation for germ line mutations.
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Replication of the recessive STBMS1 locus but with dominant inheritance.
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Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1).
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Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.
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Testing the effect of rare compound-heterozygous and recessive mutations in case--parent sequencing studies.
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The cpr5 mutant of Arabidopsis expresses both NPR1-dependent and NPR1-independent resistance.
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The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.
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The genetics of inbreeding depression.
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The sex-linked recessive lethal test for mutagenesis in Drosophila melanogaster. A report of the U.S. Environmental Protection Agency Gene-Tox Program.
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Thrombocytopenia and absent radii (TAR) syndrome associated with horseshoe kidney.
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Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease.
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Transmutation of carbon-14 within DNA of Drosophila melanogaster spermatozoa.
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Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide.
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Update on the molecular genetics of Duchenne muscular dystrophy.
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VATER and hydrocephalus: distinct syndrome?
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kdr-Type resistance in insects with special reference to the German cockroach, Blattella germanica.
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Keywords of People
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Buckley, Rebecca Hatcher,
James Buren Sidbury Distinguished Professor of Pediatrics, in the School of Medicine,
Immunology
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Gottfried, Oren N,
Professor of Neurosurgery,
Neurosurgery
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Liu, Yutao,
Adjunct Assistant Professor in the Department of Medicine,
Medicine, Medical Genetics
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McCarthy, Janice Marie,
Medical Instructor in Biostatistics and Bioinformatics,
Biostatistics & Bioinformatics
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Preminger, Glenn Michael,
James F. Glenn, M.D. Distinguished Professor of Urology,
Surgery
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Roth, V. Louise,
Professor of Biology,
Evolutionary Anthropology