Consanguinity

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  Subject Areas on Research

  • A case of atypical, complete DiGeorge syndrome without 22q11 mutation. 
  • A case of congenital glycogen storage disease type IV with a novel GBE1 mutation. 
  • A human laterality disorder caused by a homozygous deleterious mutation in MMP21. 
  • A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene. 
  • ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 
  • ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling. 
  • Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy. 
  • Allelic heterogeneity of the carbohydrate sulfotransferase-6 gene in patients with macular corneal dystrophy. 
  • American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing. 
  • Association study of two interleukin-1 gene loci with essential hypertension in a Pakistani Pathan population. 
  • Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. 
  • CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. 
  • CT and MR imaging of Canavan disease. 
  • Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery. 
  • Classification of epilepsy syndromes and role of genetic factors. 
  • Constellation of congenital abnormalities in an infant: a new syndrome or tissue-specific mosaicism for trisomy 18? 
  • Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees. 
  • Detection and reporting of homozygosity associated with consanguinity in the clinical laboratory. 
  • Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience. 
  • Dissimilar neuropsychiatric presentations of two siblings with juvenile neuronal ceroid lipofuscinosis (Batten disease). 
  • Familial spinocerebellar degeneration with corneal dystrophy. 
  • Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci. 
  • Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India. 
  • Glutaric acidemia, type I, missed by newborn screening in an infant with dystonia following promethazine administration. 
  • High-resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X-linked blue cone monochromacy. 
  • Human equivalent of the mouse Nude/SCID phenotype: long-term evaluation of immunologic reconstitution after bone marrow transplantation. 
  • Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 
  • Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping. 
  • Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15. 
  • Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. 
  • Inbreeding effects on fertility in humans: evidence for reproductive compensation. 
  • KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. 
  • Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. 
  • Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. 
  • Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35. 
  • Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34. 
  • Long contiguous stretches of homozygosity in the human genome. 
  • Managing Lafora body disease with vagal nerve stimulation. 
  • Mild cystic fibrosis in a consanguineous family. 
  • Mild cystic fibrosis linked to chromosome 7q22 markers with an uncommon haplotype. 
  • Modernization and consanguineous marriage in Beirut. 
  • Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. 
  • Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans. 
  • Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. 
  • Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 
  • Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. 
  • Mutations in the mu heavy-chain gene in patients with agammaglobulinemia. 
  • Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1. 
  • Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3. 
  • Perception of consanguineous marriages and their genetic effects among a sample of couples from Beirut. 
  • Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A. 
  • Prenatal genetic diagnosis of Neu-Laxova syndrome. 
  • Primary familial corneal amyloidosis (lattice corneal dystrophy). 
  • Quality of Life Outcomes in a Pediatric Thalassemia Population in Egypt. 
  • Renal tubular insufficiency, cholestatic jaundice, and multiple congenital anomalies--a new multisystem syndrome. 
  • Response to Rosenberg et al. 
  • SLC25A22 is a novel gene for migrating partial seizures in infancy. 
  • SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. 
  • Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation. 
  • Skin graft rejection between subjects genotyped for HL-A. 
  • Studies of viral antibody responses among Amish families. 
  • T lymphocyte ontogeny in adenosine deaminase-deficient severe combined immune deficiency after treatment with polyethylene glycol-modified adenosine deaminase. 
  • The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. 
  • The genetics of inbreeding depression. 
  • Type II hyperprolinaemia in a pedigree of Irish travellers (nomads). 
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  Keywords of People

  • Buckley, Rebecca Hatcher, James Buren Sidbury Professor of Pediatrics, in the School of Medicine, Immunology
  • Kearney, Hutton Moore, Assistant Consulting Professor in the Department of Pathology, Pathology