Works matching IS 03406717 AND DT 2010 AND VI 128 AND IP 4

Results: 14

Evidence of gene–environment interaction for the IRF6 gene and maternal multivitamin supplementation in controlling the risk of cleft lip with/without cleft palate.

Published in:

Human Genetics, 2010, v. 128, n. 4, p. 401, doi. 10.1007/s00439-010-0863-y

By:

Tao Wu;
Kung Yee Liang;
Hetmanski, Jacqueline B.;
Ruczinski, Ingo;
Fallin, Margaret Daniele;
Ingersoll, Roxann G.;
Hong Wang;
Shangzhi Huang;
Xiaoqian Ye;
Yah-Huei Wu-Chou;
Chen, Philip K.;
Jabs, Ethylin W.;
Bing Shi;
Redett, Richard;
Scott, Alan F.;
Beaty, Terri H.

Publication type:

Article

S.J.L. Knight: Monographs in Human Genetics, Vol. 18, Genetics of Mental Retardation.

Published in:

2010

By:

Philip, Nicole

Publication type:

Book Review

Walther W., Stein U.S. (eds): Gene therapy of cancer: methods and protocols, 2nd ed.

Published in:

2010

By:

Han Hsi Wong;
Yaohe Wang

Publication type:

Book Review

A homozygous mutation in LTBP2 causes isolated microspherophakia.

Published in:

Human Genetics, 2010, v. 128, n. 4, p. 365, doi. 10.1007/s00439-010-0858-8

By:

Kumar, Arun;
Duvvari, Maheswara R.;
Prabhakaran, Venkatesh C.;
Shetty, Jyoti S.;
Murthy, Gowri J.;
Blanton, Susan H.

Publication type:

Article

Breakpoint determination of 15 large deletions in Peutz–Jeghers subjects.

Published in:

Human Genetics, 2010, v. 128, n. 4, p. 373, doi. 10.1007/s00439-010-0859-7

By:

Resta, Nicoletta;
Giorda, Roberto;
Bagnulo, Rosanna;
Beri, Silvana;
Mina, Erika Della;
Stella, Alessandro;
Piglionica, Marilidia;
Susca, Francesco Claudio;
Guanti, Ginevra;
Zuffardi, Orsetta;
Ciccone, Roberto

Publication type:

Article

Susceptibility to chronic thromboembolic pulmonary hypertension may be conferred by miR- 759 via its targeted interaction with polymorphic fibrinogen alpha gene.

Published in:

Human Genetics, 2010, v. 128, n. 4, p. 443, doi. 10.1007/s00439-010-0866-8

By:

Chen, Zhiyong;
Nakajima, Toshiaki;
Tanabe, Nobuhiro;
Hinohara, Kunihiko;
Sakao, Seiichiro;
Kasahara, Yasunori;
Tatsumi, Koichiro;
Inoue, Yoshinori;
Kimura, Akinori

Publication type:

Article

Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing.

Published in:

Human Genetics, 2010, v. 128, n. 4, p. 411, doi. 10.1007/s00439-010-0864-x

By:

Naranjo, Silvia;
Voesenek, Krysta;
de la Calle-Mustienes, Elisa;
Robert-Moreno, Alex;
Kokotas, Haris;
Grigoriadou, Maria;
Economides, John;
Van Camp, Guy;
Hilgert, Nele;
Moreno, Felipe;
Alsina, Berta;
Petersen, Michael B.;
Kremer, Hannie;
Gómez-Skarmeta, José Luis

Publication type:

Article

An approach based on a genome-wide association study reveals candidate loci for narcolepsy.

Published in:

Human Genetics, 2010, v. 128, n. 4, p. 433, doi. 10.1007/s00439-010-0862-z

By:

Shimada, Mihoko;
Miyagawa, Taku;
Kawashima, Minae;
Tanaka, Susumu;
Honda, Yutaka;
Honda, Makoto;
Tokunaga, Katsushi

Publication type:

Article

Allele-specific recognition of the 3′ splice site of INS intron 1.

Published in:

Human Genetics, 2010, v. 128, n. 4, p. 383, doi. 10.1007/s00439-010-0860-1

By:

Kralovicova, Jana;
Vorechovsky, Igor

Publication type:

Article

A biopsy sample reduction approach to identify significant alterations of the testicular transcriptome in the presence of Y-chromosomal microdeletions that are independent of germ cell composition.

Published in:

Human Genetics, 2010, v. 128, n. 4, p. 421, doi. 10.1007/s00439-010-0865-9

By:

Cappallo-Obermann, Heike;
von Kopylow, Kathrein;
Schulze, Wolfgang;
Spiess, Andrej-Nikolai

Publication type:

Article

Age at onset in Huntington’s disease is modified by the autophagy pathway: implication of the V471A polymorphism in Atg7.

Published in:

Human Genetics, 2010, v. 128, n. 4, p. 453, doi. 10.1007/s00439-010-0873-9

By:

Metzger, Silke;
Saukko, Meiju;
Hong Van Che;
Liang Tong;
Puder, Yvonne;
Riess, Olaf;
Nguyen, Huu Phuc

Publication type:

Article

Achalasia: will genetic studies provide insights?

Published in:

Human Genetics, 2010, v. 128, n. 4, p. 353, doi. 10.1007/s00439-010-0874-8

By:

Gockel, Henning R.;
Schumacher, Johannes;
Gockel, Ines;
Lang, Hauke;
Haaf, Thomas;
Nöthen, Markus M.

Publication type:

Article

Identification of an autosomal recessive stuttering locus on chromosome 3q13.2–3q13.33.

Published in:

2010

By:

Raza, Muhammad Hashim;
Riazuddin, Sheikh;
Drayna, Dennis

Publication type:

Report

No association between the SNPs (rs3749446 and rs1402000) in the PARL gene and LHON in Chinese patients with m.11778G>A.

Published in:

Human Genetics, 2010, v. 128, n. 4, p. 465, doi. 10.1007/s00439-010-0875-7

By:

Zhang, A-Mei;
Xiaoyun Jia;
Qingjiong Zhang;
Yong-Gang Yao

Publication type:

Article