Genetic Carrier Screening

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  Subject Areas on Research

  • A comprehensive evaluation of CHEK2 germline mutations in men with prostate cancer. 
  • 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 novel modifier gene for plasma von Willebrand factor level maps to distal mouse chromosome 11. 
  • A novel mutation in IFN-gamma receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states. 
  • A past mutation at isoleucine 397 is now a common cause of moderate/mild haemophilia B. 
  • A replicated molecular genetic basis for subtyping antisocial behavior in children with attention-deficit/hyperactivity disorder. 
  • APOE genotype and hippocampal volume change in geriatric depression. 
  • Allopurinol-induced orotidinuria. 
  • Allopurinol-induced orotidinuria. A test for mutations at the ornithine carbamoyltransferase locus in women. 
  • Association between genetic variation at the porphobilinogen deaminase gene and schizophrenia. 
  • BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes. 
  • Carrier detection in Sanfilippo syndrome type B: report of six families. 
  • Carrier testing in fragile X syndrome: effect on self-concept. 
  • Carrier testing in fragile X syndrome: when to tell and test. 
  • Carrier testing in the fragile X syndrome: attitudes and opinions of obligate carriers. 
  • Catecholamine synthesis is mediated by tyrosinase in the absence of tyrosine hydroxylase. 
  • Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin? 
  • Coevolution of self-fertilization and inbreeding depression. II. Symmetric overdominance in viability. 
  • Communication of genetic risk information to daughters in families with fragile X syndrome: the parent's perspective. 
  • Comparison of direct and indirect methods of carrier detection in an X-linked disease. 
  • Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency. 
  • Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. 
  • Direct carrier testing in 14 families with haemophilia B. 
  • Examination of factors associated with instability of the FMR1 CGG repeat. 
  • Examination of factors that influence the expansion of the fragile X mutation in a sample of conceptuses from known carrier females. 
  • GFAP is necessary for the integrity of CNS white matter architecture and long-term maintenance of myelination. 
  • Genetic risk communication: experiences of adolescent girls and young women from families with fragile X syndrome. 
  • Genetics for the Women's Health Trainee: A Five-Module Curriculum. 
  • IL-4 induces differentiation and expansion of Th2 cytokine-producing eosinophils. 
  • Identification of Duchenne muscular dystrophy genomic probe P20 constant Taql fragment corresponding to the EcoRV and Mspl polymorphisms. 
  • Imaging genetics. 
  • Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III. 
  • Inbreeding depression in non-human primates: a historical review of methods used and empirical data. 
  • Influence of genetic risk information on parental role identity in adolescent girls and young women from families with fragile X syndrome. 
  • Intracerebral hemorrhage outcome: apolipoprotein E genotype, hematoma, and edema volumes. 
  • Living with genetic risk: effect on adolescent self-concept. 
  • Mechanisms of increased hippocampal excitability in the Mashl+/- mouse model of Na+ /K+ -ATPase dysfunction. 
  • 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. 
  • Mutations in the gene encoding for the beta 2-adrenergic receptor in normal and asthmatic subjects. 
  • Newborn, carrier, and early childhood screening recommendations for fragile X. 
  • Nitric oxide synthase 2(Lambaréné) (G-954C), increased nitric oxide production, and protection against malaria. 
  • Parental attitudes regarding carrier testing in children at risk for fragile X syndrome. 
  • Patients with chronic granulomatous disease have a reduced peripheral blood memory B cell compartment. 
  • Pharmacogenetic guidance for antiplatelet treatment. 
  • Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders. 
  • Prenatal diagnosis and carrier detection for glycogen storage disease type III using polymorphic DNA markers. 
  • Prenatal diagnosis using deletion studies in Duchenne muscular dystrophy. 
  • Prevalence of heterozygotes for hemochromatosis in the white population of the United States. 
  • Priapism associated with hemoglobin C trait. 
  • Recombinant DNA strategies in genetic neurological diseases. 
  • Repair of specific base pair mismatches formed during meiotic recombination in the yeast Saccharomyces cerevisiae. 
  • Screening of CFTR mutations in an isolated population: identification of carriers and patients. 
  • Spinal Muscular Atrophy: Inheritance, Screening, and Counseling for the Obstetric Provider. 
  • Survey of cystic fibrosis transmembrane conductance regulator genotypes in primary sclerosing cholangitis. 
  • 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. 
  • The broader autism phenotype in simplex and multiplex families. 
  • Tissue-specific expression of the human CD19 gene in transgenic mice inhibits antigen-independent B-lymphocyte development. 
  • Unresolved issues in diagnosis and management of inherited bleeding disorders in the perinatal period: a White Paper of the Perinatal Task Force of the Medical and Scientific Advisory Council of the National Hemophilia Foundation, USA. 
  • Validity of models for predicting BRCA1 and BRCA2 mutations. 
  • What are the required components of pre- and post-test counseling? 
  • When to tell and test for genetic carrier status: perspectives of adolescents and young adults from fragile X families. 
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  Keywords of People

  • Buckley, Rebecca Hatcher, James Buren Sidbury Distinguished Professor Emeritus of Pediatrics, in the School of Medicine, Pediatrics, Allergy and Immunology
  • Landstrom, Andrew Paul, Associate Professor of Pediatrics, Cell Biology
  • Muir, Kelly Walton, Associate Professor of Ophthalmology, Ophthalmology, Glaucoma