Works matching IS 03406717 AND DT 2012 AND VI 131 AND IP 11

Results: 11

Novel neurodevelopmental information revealed in amniotic fluid supernatant transcripts from fetuses with trisomies 18 and 21.

Published in:

Human Genetics, 2012, v. 131, n. 11, p. 1751, doi. 10.1007/s00439-012-1195-x

By:

Hui, Lisa;
Slonim, Donna;
Wick, Heather;
Johnson, Kirby;
Koide, Keiko;
Bianchi, Diana

Publication type:

Article

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.

Published in:

Human Genetics, 2012, v. 131, n. 11, p. 1761, doi. 10.1007/s00439-012-1197-8

By:

Fischer, Björn;
Dimopoulou, Aikaterini;
Egerer, Johannes;
Gardeitchik, Thatjana;
Kidd, Alexa;
Jost, Dominik;
Kayserili, Hülya;
Alanay, Yasemin;
Tantcheva-Poor, Iliana;
Mangold, Elisabeth;
Daumer-Haas, Cornelia;
Phadke, Shubha;
Peirano, Reto;
Heusel, Julia;
Desphande, Charu;
Gupta, Neerja;
Nanda, Arti;
Felix, Emma;
Berry-Kravis, Elisabeth;
Kabra, Madhulika

Publication type:

Article

Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations.

Published in:

Human Genetics, 2012, v. 131, n. 11, p. 1725, doi. 10.1007/s00439-012-1181-3

By:

Chatterjee, Rajshekhar;
Ramos, Enrique;
Hoffman, Mary;
VanWinkle, Jessica;
Martin, Daniel;
Davis, Thomas;
Hoshi, Masato;
Hmiel, Stanley;
Beck, Anne;
Hruska, Keith;
Coplen, Doug;
Liapis, Helen;
Mitra, Robi;
Druley, Todd;
Austin, Paul;
Jain, Sanjay

Publication type:

Article

The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders.

Published in:

Human Genetics, 2012, v. 131, n. 11, p. 1687, doi. 10.1007/s00439-012-1193-z

By:

Bacon, Claire;
Rappold, Gudrun

Publication type:

Article

Strong purifying selection against gene conversions in the trypsin genes of primates.

Published in:

Human Genetics, 2012, v. 131, n. 11, p. 1739, doi. 10.1007/s00439-012-1196-9

By:

Petronella, Nicholas;
Drouin, Guy

Publication type:

Article

Serum vitamins A and E as modifiers of lipid trait genetics in the National Health and Nutrition Examination Surveys as part of the Population Architecture using Genomics and Epidemiology (PAGE) study.

Published in:

Human Genetics, 2012, v. 131, n. 11, p. 1699, doi. 10.1007/s00439-012-1186-y

By:

Dumitrescu, Logan;
Goodloe, Robert;
Brown-Gentry, Kristin;
Mayo, Ping;
Allen, Melissa;
Jin, Hailing;
Gillani, Niloufar;
Schnetz-Boutaud, Nathalie;
Dilks, Holli;
Crawford, Dana

Publication type:

Article

Genetic markers of ovarian follicle number and menopause in women of multiple ethnicities.

Published in:

Human Genetics, 2012, v. 131, n. 11, p. 1709, doi. 10.1007/s00439-012-1184-0

By:

Schuh-Huerta, Sonya;
Johnson, Nicholas;
Rosen, Mitchell;
Sternfeld, Barbara;
Cedars, Marcelle;
Reijo Pera, Renee

Publication type:

Article

Genetic variation in MDR1, LPL and eNOS genes and the response to atorvastatin treatment in ischemic stroke.

Published in:

Human Genetics, 2012, v. 131, n. 11, p. 1775, doi. 10.1007/s00439-012-1202-2

By:

Munshi, Anjana

Publication type:

Article

Genome-wide analysis of copy number variations reveals that aging processes influence body fat distribution in Korea Associated Resource (KARE) cohorts.

Published in:

Human Genetics, 2012, v. 131, n. 11, p. 1795, doi. 10.1007/s00439-012-1203-1

By:

Lee, Bo-Young;
Shin, Dong;
Cho, Seoae;
Seo, Kang-Seok;
Kim, Heebal

Publication type:

Article

Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia.

Published in:

Human Genetics, 2012, v. 131, n. 11, p. 1805, doi. 10.1007/s00439-012-1207-x

By:

Bar-joseph, Ifat;
Pras, Elon;
Reznik-Wolf, Haike;
Marek-Yagel, Dina;
Abu-Horvitz, Almogit;
Dushnitzky, Maya;
Goldstein, Nurit;
Rienstein, Shlomit;
Dekel, Michal;
Pode-Shakked, Ben;
Zlotnik, Joseph;
Benarrosh, Anelia;
Gillery, Philippe;
Hofliger, Niklaus;
Auray-Blais, Christiane;
Garnotel, Roselyne;
Anikster, Yair

Publication type:

Article

Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness.

Published in:

Human Genetics, 2012, v. 131, n. 11, p. 1783, doi. 10.1007/s00439-012-1201-3

By:

Hoehn, René;
Zeller, Tanja;
Verhoeven, Virginie;
Grus, Franz;
Adler, Max;
Wolfs, Roger;
Uitterlinden, André;
Castagne, Raphaële;
Schillert, Arne;
Klaver, Caroline;
Pfeiffer, Norbert;
Mirshahi, Alireza

Publication type:

Article