Works matching IS 03406717 AND DT 2008 AND VI 123 AND IP 2

Results: 11

Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression.

Published in:

Human Genetics, 2008, v. 123, n. 2, p. 177, doi. 10.1007/s00439-007-0460-x

By:

Eiberg, Hans;
Troelsen, Jesper;
Nielsen, Mette;
Mikkelsen, Annemette;
Mengel-From, Jonas;
Kjaer, Klaus W.;
Hansen, Lars

Publication type:

Article

Michael H. Crawford (ed): Anthropological genetics.

Published in:

2008

By:

Jobling, Mark A.

Publication type:

Book Review

Genetic variation in CYP17 and endometrial cancer risk.

Published in:

Human Genetics, 2008, v. 123, n. 2, p. 155, doi. 10.1007/s00439-007-0454-8

By:

Gaudet, Mia M.;
Lacey Jr, James V.;
Lissowska, Jolanta;
Peplonska, Beata;
Brinton, Louise A.;
Chanock, Stephen;
Garcia-Closas, Montserrat

Publication type:

Article

The MTHFR gene polymorphism is associated with lean body mass but not fat body mass.

Published in:

Human Genetics, 2008, v. 123, n. 2, p. 189, doi. 10.1007/s00439-007-0463-7

By:

Xiaogang Liu;
Lan-Juan Z hao;
Yong-Jun Liu;
Dong-Hai Xiong;
Recker, Robert R.;
Hong-Wen Deng

Publication type:

Article

The Environmental Polymorphisms Registry: a DNA resource to study genetic susceptibility loci.

Published in:

Human Genetics, 2008, v. 123, n. 2, p. 207, doi. 10.1007/s00439-007-0457-5

By:

Chulada, Patricia C.;
Vahdat, Heather L.;
Sharp, Richard R.;
DeLozier, Tracy C.;
Watkins, Paul B.;
Pusek, Susan N.;
Blackshear, Perry J.

Publication type:

Article

Congenital, low penetrance lymphedema of lower limbs maps to chromosome 6q16.2–q22.1 in an inbred Pakistani family.

Published in:

Human Genetics, 2008, v. 123, n. 2, p. 197, doi. 10.1007/s00439-007-0458-4

By:

Malik, Sajid;
Grzeschik, Karl-Heinz

Publication type:

Article

Mortality risks in patients with constitutional autosomal chromosome deletions in Britain: a cohort study.

Published in:

Human Genetics, 2008, v. 123, n. 2, p. 215, doi. 10.1007/s00439-008-0465-0

By:

Swerdlow, Anthony J.;
Schoemaker, Minouk J.;
Higgins, Craig D.;
Wright, Alan F.;
Jacobs, Patricia A.

Publication type:

Article

Identifying susceptibility loci for nicotine dependence: 2008 update based on recent genome-wide linkage analyses.

Published in:

Human Genetics, 2008, v. 123, n. 2, p. 119, doi. 10.1007/s00439-008-0473-0

By:

Li, Ming D.

Publication type:

Article

Significant association of DRD1 with nicotine dependence.

Published in:

Human Genetics, 2008, v. 123, n. 2, p. 133, doi. 10.1007/s00439-007-0453-9

By:

Weihua Huang;
Ma, Jennie Z.;
Payne, Thomas J.;
Beuten, Joke;
Dupont, Randolph T.;
Li, Ming D.

Publication type:

Article

Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy.

Published in:

Human Genetics, 2008, v. 123, n. 2, p. 141, doi. 10.1007/s00439-007-0455-7

By:

Brichta, Lars;
Garbes, Lutz;
Jedrzejowska, Maria;
Grellscheid, Sushma-Nagaraja;
Holker, Irmgard;
Zimmermann, Katharina;
Wirth, Brunhilde

Publication type:

Article

The Opitz syndrome gene product MID1 assembles a microtubule-associated ribonucleoprotein complex.

Published in:

Human Genetics, 2008, v. 123, n. 2, p. 163, doi. 10.1007/s00439-007-0456-6

By:

Aranda-Orgillés, Beatriz;
Trockenbacher, Alexander;
Winter, Jennifer;
Aigner, Johanna;
Köhler, Andrea;
Jastrzebska, Ewa;
Stahl, Joachim;
Müller, Eva-Christina;
Otto, Albrecht;
Wanker, Erich F.;
Schneider, Rainer;
Schweiger, Susann

Publication type:

Article