PubMed Central (PMC3 - NLM DTD)
Mostrando recursos 61 - 80 de 679
Examination of NRCAM, LRRN3, KIAA0716, and LAMB1 as autism candidate genes
- Hutcheson, Holli B; Olson, Lana M; Bradford, Yuki; Folstein, Susan E; Santangelo, Susan L; Sutcliffe, James S; Haines, Jonathan L
TP73 allelic expression in human brain and allele frequencies in Alzheimer's disease
- Li, Quanyi; Athan, Eleni S; Wei, Michelle; Yuan, Eric; Rice, Samuel L; Vonsattel, Jean-Paul; Mayeux, Richard P; Tycko, Benjamin
Elevated white cell count in acute coronary syndromes: relationship to variants in inflammatory and thrombotic genes
- Byrne, Connie E; Fitzgerald, Anthony; Cannon, Christopher P; Fitzgerald, Desmond J; Shields, Denis C
HNPCC: Six new pathogenic mutations
- Kunstmann, Erdmute; Vieland, Judith; Brasch, Frank E; Hahn, Stephan A; Epplen, Joerg T; Schulmann, Karsten; Schmiegel, Wolff
The impact of population heterogeneity on risk estimation in genetic counseling
- Liu, Wenlei; Icitovic, Nikolina; Shaffer, Michele L; Chase, Gary A
Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations ?
- Claustres, Mireille; Altiéri, Jean-Pierre; Guittard, Caroline; Templin, Carine; Chevalier-Porst, Françoise; Georges, Marie Des
Candidate high myopia loci on chromosomes 18p and 12q do not play a major role in susceptibility to common myopia
- Ibay, Grace; Doan, Betty; Reider, Lauren; Dana, Debra; Schlifka, Melissa; Hu, Heping; Holmes, Taura; O'Neill, Jennifer; Owens, Robert; Ciner, Elise; BaileyWilson, Joan E; Stambolian, Dwight
A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation
- Pickard, Ben S; Hollox, Edward J; Malloy, M Pat; Porteous, David J; Blackwood, Douglas HR; Armour, John AL; Muir, Walter J
TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation
- Christophe-Hobertus, Christiane; Kooy, Frank; Gecz, Jozef; Abramowicz, Marc J; Holinski-Feder, Elke; Schwartz, Charles; Christophe, Daniel
What is the impact of the ACE gene insertion/deletion (I/D) polymorphism on the clinical effectiveness and adverse events of ACE inhibitors? Protocol of a systematic review
- Scharplatz, M; Puhan, MA; Steurer, J; Bachmann, LM
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan
- Ahmed, Zubair M; Cindy Li, Xiaoyan; Powell, Shontell D; Riazuddin, Saima; Young, Terry-Lynn; Ramzan, Khushnooda; Ahmad, Zahoor; Luscombe, Sandra; Dhillon, Kiran; MacLaren, Linda; Ploplis, Barbara; Shotland, Lawrence I; Ives, Elizabeth; Riazuddin, Sheikh; Friedman, Thomas B; Morell, Robert J; Wilcox, Edward R
CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity
- Blaisdell, Carol J; Howard, Timothy D; Stern, Augustus; Bamford, Penelope; Bleecker, Eugene R; Stine, O Colin
HLA haplotypes associated with hemochromatosis mutations in the Spanish population
- Pacho, Arantza; Mancebo, Esther; del Rey, Manuel J; Castro, Maria J; Oliver, Desamparados; García-Berciano, Miguel; González, Luis; Morales, Pablo
Neural network analysis in pharmacogenetics of mood disorders
- Serretti, Alessandro; Smeraldi, Enrico
Allele frequencies of hemojuvelin gene (HJV) I222N and G320V missense mutations in white and African American subjects from the general Alabama population
- Barton, James C; Rivers, Charles A; Niyongere, Sandrine; Bohannon, Sean B; Acton, Ronald T
Catechol-O-Methyltransferase (COMT) Val108/158 Met polymorphism does not modulate executive function in children with ADHD
- Taerk, Evan; Grizenko, Natalie; Amor, Leila Ben; Lageix, Philippe; Mbekou, Valentin; Deguzman, Rosherie; Torkaman-Zehi, Adam; Stepanian, Marina Ter; Baron, Chantal; Joober, Ridha
Men's values-based factors on prostate cancer risk genetic testing: A telephone survey
- Doukas, David J; Li, Yuelin
Neural progenitor cells from an adult patient with fragile X syndrome
- Schwartz, Philip H; Tassone, Flora; Greco, Claudia M; Nethercott, Hubert E; Ziaeian, Boback; Hagerman, Randi J; Hagerman, Paul J
Genome-wide and Ordered-Subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates
- McCauley, Jacob L; Li, Chun; Jiang, Lan; Olson, Lana M; Crockett, Genea; Gainer, Kimberly; Folstein, Susan E; Haines, Jonathan L; Sutcliffe, James S
Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension
- Hannila-Handelberg, Tuula; Kontula, Kimmo; Tikkanen, Ilkka; Tikkanen, Tuula; Fyhrquist, Frej; Helin, Karri; Fodstad, Heidi; Piippo, Kirsi; Miettinen, Helena E; Virtamo, Jarmo; Krusius, Tom; Sarna, Seppo; Gautschi, Ivan; Schild, Laurent; Hiltunen, Timo P
61.
