Volume 131; Issue 11

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Human Genetics
Volume 131; Issue 11

Human Genetics

Volume 131; Issue 11

1

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

Chatterjee, Rajshekhar, Ramos, Enrique, Hoffman, Mary, VanWinkle, Jessica, Martin, Daniel R., Davis, Thomas K., Hoshi, Masato, Hmiel, Stanley P., Beck, Anne, Hruska, Keith, Coplen, Doug, Liapis, Helen

Journal:

Year:

2012

Language:

english

File:

PDF, 1.29 MB

english, 2012

2

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

Schuh-Huerta, Sonya M., Johnson, Nicholas A., Rosen, Mitchell P., Sternfeld, Barbara, Cedars, Marcelle I., Reijo Pera, Renee A.

Journal:

Year:

2012

Language:

english

File:

PDF, 946 KB

english, 2012

3

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

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

Journal:

Year:

2012

Language:

english

File:

PDF, 248 KB

english, 2012

4

The distinct and overlapping phenotypic spectra ofFOXP1andFOXP2in cognitive disorders

Bacon, Claire, Rappold, Gudrun A.

Journal:

Year:

2012

Language:

english

File:

PDF, 342 KB

english, 2012

5

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

Hui, Lisa, Slonim, Donna K., Wick, Heather C., Johnson, Kirby L., Koide, Keiko, Bianchi, Diana W.

Journal:

Year:

2012

Language:

english

File:

PDF, 265 KB

english, 2012

6

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

Petronella, Nicholas, Drouin, Guy

Journal:

Year:

2012

Language:

english

File:

PDF, 905 KB

english, 2012

7

Further characterization ofATP6V0A2-related autosomal recessive cutis laxa

Fischer, Björn, Dimopoulou, Aikaterini, Egerer, Johannes, Gardeitchik, Thatjana, Kidd, Alexa, Jost, Dominik, Kayserili, Hülya, Alanay, Yasemin, Tantcheva-Poor, Iliana, Mangold, Elisabeth, Daumer-Haas,

Journal:

Year:

2012

Language:

english

File:

PDF, 1010 KB

english, 2012

8

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

Hoehn, René, Zeller, Tanja, Verhoeven, Virginie J. M., Grus, Franz, Adler, Max, Wolfs, Roger C., Uitterlinden, André G., Castagne, Raphaële, Schillert, Arne, Klaver, Caroline C. W., Pfeiffer, Norbert,

Journal:

Year:

2012

Language:

english

File:

PDF, 466 KB

english, 2012

9

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

Journal:

Year:

2012

Language:

english

File:

PDF, 176 KB

english, 2012

10

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

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

Journal:

Year:

2012

Language:

english

File:

PDF, 534 KB

english, 2012

11

Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia

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, Be

Journal:

Year:

2012

Language:

english

File:

PDF, 458 KB

english, 2012