Works matching IS 03406717 AND DT 2007 AND VI 122 AND IP 5

Results: 17

Genotype–phenotype correlations for SLC26A4-related deafness.

Published in:

Human Genetics, 2007, v. 122, n. 5, p. 451, doi. 10.1007/s00439-007-0415-2

By:

Azaiez, Hela;
Yang, Tao;
Prasad, Sai;
Sorensen, Jessica L.;
Nishimura, Carla J.;
Kimberling, William J.;
Smith, Richard

Publication type:

Article

Interaction between the UCP2–866G/A, mtDNA 10398G/A and PGC1α p.Thr394Thr and p.Gly482Ser polymorphisms in type 2 diabetes susceptibility in North Indian population.

Published in:

Human Genetics, 2007, v. 122, n. 5, p. 535, doi. 10.1007/s00439-007-0421-4

By:

Rai, E.;
Sharma, S.;
Koul, A.;
Bhat, A. K.;
Bhanwer, A. J. S.;
Bamezai, R. N. K.

Publication type:

Article

High-density oligonucleotide array with sub-kilobase resolution reveals breakpoint information of submicroscopic deletions in nevoid basal cell carcinoma syndrome.

Published in:

Human Genetics, 2007, v. 122, n. 5, p. 459, doi. 10.1007/s00439-007-0419-y

By:

Fujii, Katsunori;
Ishikawa, Shumpei;
Uchikawa, Hideki;
Komura, Daisuke;
Shapero, Michael H.;
Shen, Fan;
Hung, Jing;
Arai, Hiroshi;
Tanaka, Yoko;
Sasaki, Kimio;
Kohno, Yoichi;
Yamada, Masao;
Jones, Keith;
Aburatani, Hiroyuki;
Miyashita, Toshiyuki

Publication type:

Article

IL-6 gene variation is associated with IL-6 and C-reactive protein levels but not cardiovascular outcomes in the Cardiovascular Health Study.

Published in:

Human Genetics, 2007, v. 122, n. 5, p. 485, doi. 10.1007/s00439-007-0428-x

By:

Walston, Jeremy D.;
Fallin, M.;
Cushman, Mary;
Lange, Leslie;
Psaty, Bruce;
Jenny, Nancy;
Browner, Warren;
Tracy, Russell;
Durda, Peter;
Reiner, Alex

Publication type:

Article

Novel human pathological mutations.

Published in:: Human Genetics, 2007, v. 122, n. 5, p. 545, doi. 10.1007/s00439-007-0423-2
Publication type:: Article

RAAS gene polymorphisms influence progression of pediatric hypertrophic cardiomyopathy.

Published in:

Human Genetics, 2007, v. 122, n. 5, p. 515, doi. 10.1007/s00439-007-0429-9

By:

Kaufman, Beth D.;
Auerbach, Scott;
Reddy, Sushma;
Manlhiot, Cedric;
Liyong Deng;
Prakash, Ashwin;
Printz, Beth F.;
Gruber, Dorota;
Papavassiliou, Dimitrios P.;
Hsu, Daphne T.;
Sehnert, Amy J.;
Chung, Wendy K.;
Mital, Seema

Publication type:

Article

Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis.

Published in:

Human Genetics, 2007, v. 122, n. 5, p. 467, doi. 10.1007/s00439-007-0420-5

By:

Carré, Aurore;
Castanet, Mireille;
Sura-Trueba, Sylvia;
Szinnai, Gabor;
Vliet, Guy;
Trochet, Delphine;
Amiel, Jeanne;
Léger, Juliane;
Czernichow, Paul;
Scotet, Virginie;
Polak, Michel

Publication type:

Article

The first large duplication of the RSK2 gene identified in a Coffin-Lowry syndrome patient.

Published in:

Human Genetics, 2007, v. 122, n. 5, p. 541, doi. 10.1007/s00439-007-0424-1

By:

Marques Pereira, Patricia;
Heron, Delphine;
Hanauer, André

Publication type:

Article

Methods to impute missing genotypes for population data.

Published in:

Human Genetics, 2007, v. 122, n. 5, p. 495, doi. 10.1007/s00439-007-0427-y

By:

Yu, Zhaoxia;
Schaid, Daniel J.

Publication type:

Article

One-carbon metabolism gene polymorphisms and risk of non-Hodgkin lymphoma in Australia.

Published in:

Human Genetics, 2007, v. 122, n. 5, p. 525, doi. 10.1007/s00439-007-0431-2

By:

Kyoung-Mu Lee;
Qing Lan;
Kricker, Anne;
Purdue, Mark;
Grulich, Andrew;
Vajdic, Claire;
Turner, Jennifer;
Whitby, Denise;
Kang, Daehee;
Chanock, Stephen;
Rothman, Nathaniel;
Armstrong, Bruce

Publication type:

Article

Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16.

Published in:

Human Genetics, 2007, v. 122, n. 5, p. 423, doi. 10.1007/s00439-007-0412-5

By:

Zollino, Marcella;
Lecce, Rosetta;
Murdolo, Marina;
Orteschi, Daniela;
Marangi, Giuseppe;
Selicorni, Angelo;
Midro, Alina;
Sorge, Giovanni;
Zampino, Giuseppe;
Memo, Luigi;
Battaglia, Domenica;
Petersen, Michael;
Pandelia, Effie;
Gyftodimou, Yolanda;
Faravelli, Francesca;
Tenconi, Romano;
Garavelli, Livia;
Mazzanti, Laura;
Fischetto, Rita;
Cavalli, Pietro

Publication type:

Article

Tracing genetic history of modern humans using X-chromosome lineages.

Published in:

Human Genetics, 2007, v. 122, n. 5, p. 431, doi. 10.1007/s00439-007-0413-4

By:

Yotova, Vania;
Lefebvre, Jean-François;
Kohany, Oleksiy;
Jurka, Jerzy;
Michalski, Roman;
Modiano, David;
Utermann, Gerd;
Williams, Scott;
Labuda, Damian

Publication type:

Article

Barbara Migeon: Females are mosaics: X inactivation and sex differences in disease.

Published in:

2007

By:

Reardon, William

Publication type:

Book Review

The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.

Published in:

Human Genetics, 2007, v. 122, n. 5, p. 445, doi. 10.1007/s00439-007-0418-z

By:

Ain, Quratul;
Nazli, Sabiha;
Riazuddin, Saima;
Jaleel, Ateeq-ul;
Riazuddin, S. Amer;
Zafar, Ahmad U.;
Khan, Shaheen N.;
Husnain, Tayyab;
Griffith, Andrew J.;
Ahmed, Zubair M.;
Friedman, Thomas B.;
Riazuddin, Sheikh

Publication type:

Article

A most distant intergeneric hybrid offspring (Larcon) of lesser apes, Nomascus leucogenys and Hylobates lar.

Published in:

Human Genetics, 2007, v. 122, n. 5, p. 477, doi. 10.1007/s00439-007-0425-0

By:

Hirai, Hirohisa;
Hirai, Yuriko;
Domae, Hiroshi;
Kirihara, Yoko

Publication type:

Article

Gender specific differences in levels of DNA methylation at selected loci from human total blood: a tendency toward higher methylation levels in males.

Published in:

Human Genetics, 2007, v. 122, n. 5, p. 505, doi. 10.1007/s00439-007-0430-3

By:

El-Maarri, Osman;
Becker, Tim;
Junen, Judith;
Manzoor, Syed;
Diaz-Lacava, Amalia;
Schwaab, Rainer;
Wienker, Thomas;
Oldenburg, Johannes

Publication type:

Article

Imprinting detection by extending a regression-based QTL analysis method.

Published in:

2007

By:

Gorlova, Olga Y.;
Lei Lei;
Dakai Zhu;
Shih-Feng Weng;
Shete, Sanjay;
Yiqun Zhang;
Wei-Dong Li;
Price, R.;
Amos, Christopher

Publication type:

Correction Notice