PubMed Central (PMC3 - NLM DTD)
Mostrando recursos 141 - 160 de 679
Glutathione S-Transferase Ω 1 variation does not influence age at onset of Huntington's disease
- Arning, Larissa; Jagiello, Peter; Wieczorek, Stefan; Saft, Carsten; Andrich, Jürgen; Epplen, Jörg T
NAT gene polymorphisms and susceptibility to Alzheimer's disease: identification of a novel NAT1 allelic variant
- Johnson, Nichola; Bell, Peter; Jonovska, Vesna; Budge, Marc; Sim, Edith
Correction: Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients
- Germain, Dominique P; Avan, Paul; Chassaing, Augustin; Bonfils, Pierre
A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, GLRA3, GLRB) and neuropeptide receptors NPY1R, NPY5R
- Ramanathan, Subhadra; Woodroffe, Abigail; Flodman, Pamela L; Mays, Lee Z; Hanouni, Mona; Modahl, Charlotte B; Steinberg-Epstein, Robin; Bocian, Maureen E; Spence, M Anne; Smith, Moyra
Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy
- D'Apice, Maria Rosaria; Gambardella, Stefano; Bengala, Mario; Russo, Silvia; Nardone, Anna Maria; Lucidi, Vincenzina; Sangiuolo, Federica; Novelli, Giuseppe
PAX6 gene variations associated with aniridia in south India
- Neethirajan, Guruswamy; Krishnadas, Subbaiah Ramasamy; Vijayalakshmi, Perumalsamy; Shashikant, Shetty; Sundaresan, Periasamy
Analysis of polymorphic TGFB1 codons 10, 25, and 263 in a German patient group with non-syndromic cleft lip, alveolus, and palate compared with healthy adults
- Stoll, Christian; Mengsteab, Senait; Stoll, Doris; Riediger, Dieter; Gressner, Axel M; Weiskirchen, Ralf
Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: Relevance to ocular dysgenesis and hearing impairment
- Gould, Douglas B; Jaafar, Mohamad S; Addison, Mark K; Munier, Francis; Ritch, Robert; MacDonald, Ian M; Walter, Michael A
Polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and susceptibility to pediatric acute lymphoblastic leukemia in a German study population
- Schnakenberg, Eckart; Mehles, Andrea; Cario, Gunnar; Rehe, Klaus; Seidemann, Kathrin; Schlegelberger, Brigitte; Elsner, Holger A; Welte, Karl H; Schrappe, Martin; Stanulla, Martin
Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation
- Chen, Chun-An; Tang, Nelson LS; Chien, Yin-Hsiu; Zhang, Wei-Min; Wang, Jou-Kou; Hwu, Wuh-Liang
Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter
- Sogaard, Marie; Tümer, Zeynep; Hjalgrim, Helle; Hahnemann, Johanne; Friis, Birgitte; Ledaal, Paal; Pedersen, Vibeke Faurholt; Baekgaard, Peter; Tommerup, Niels; Cingöz, Sultan; Duno, Morten; Brondum-Nielsen, Karen
SMN1 dosage analysis in spinal muscular atrophy from India
- Kesari, Akanchha; Rennert, Hanna; Leonard, Debra GB; Mittal, Balraj
Spinocerebellar ataxia type 17: Report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes
- Zühlke, Christine; Dalski, Andreas; Schwinger, Eberhard; Finckh, Ulrich
Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data
- Scotet, Virginie; Le Gac, Gérald; Mérour, Marie-Christine; Mercier, Anne-Yvonne; Chanu, Brigitte; Ka, Chandran; Mura, Catherine; Nousbaum, Jean-Baptiste; Férec, Claude
Cardiac conduction abnormalities and congenital immunodeficiency in a child with Kabuki syndrome: Case report
- Shah, Maulik; Bogucki, Brian; Mavers, Melissa; deMello, Daphne E; Knutsen, Alan
Association study of functional genetic variants of innate immunity related genes in celiac disease
- Rueda, B; Zhernakova, A; López-Nevot, MA; Martín, J; Koeleman, BPC
High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss
- Tang, Hsiao-Yuan; Xia, Anping; Oghalai, John S; Pereira, Fred A; Alford, Raye L
Insulin Promoter Factor 1 variation is associated with type 2 diabetes in African Americans
- Karim, Mohammad A; Wang, Xiaoqin; Hale, Terri C; Elbein, Steven C
Aging syndrome genes and premature coronary artery disease
- Low, Adrian F; O'Donnell, Christopher J; Kathiresan, Sekar; Everett, Brendan; Chae, Claudia U; Shaw, Stanley Y; Ellinor, Patrick T; MacRae, Calum A
Polymorphisms of the Flavin containing monooxygenase 3 (FMO3) gene do not predispose to essential hypertension in Caucasians
- Dolan, Ciara; Shields, Denis C; Stanton, Alice; O'Brien, Eoin; Lambert, Deborah M; O'Brien, John K; Treacy, Eileen P
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