Works matching IS 03406717 AND DT 2007 AND VI 121 AND IP 3/4

Results: 26

AZFc somatic microdeletions and copy number polymorphism of the DAZ genes in human males exposed to natural background radiation.

Published in:

Human Genetics, 2007, v. 121, n. 3/4, p. 337, doi. 10.1007/s00439-006-0318-7

By:

Premi, Sanjay;
Srivastava, Jyoti;
Chandy, Sebastian;
Ali, Sher

Publication type:

Article

Cholesteryl ester transfer protein gene haplotypes, plasma high-density lipoprotein levels and the risk of coronary heart disease.

Published in:

Human Genetics, 2007, v. 121, n. 3/4, p. 401, doi. 10.1007/s00439-007-0326-2

By:

McCaskie, Pamela A.;
Beilby, John P.;
Chapman, Caroline M.L.;
Hung, Joseph;
McQuillan, Brendan M.;
Thompson, Peter L.;
Palmer, Lyle J.

Publication type:

Article

A mutation in the lipase H ( LIPH) gene underlie autosomal recessive hypotrichosis.

Published in:

Human Genetics, 2007, v. 121, n. 3/4, p. 319, doi. 10.1007/s00439-007-0344-0

By:

Ali, Ghazanfar;
Chishti, Muhammad Salman;
Raza, Syed Irfan;
John, Peter;
Ahmad, Wasim

Publication type:

Article

Baldness and the androgen receptor: the AR polyglycine repeat polymorphism does not confer susceptibility to androgenetic alopecia.

Published in:

Human Genetics, 2007, v. 121, n. 3/4, p. 451, doi. 10.1007/s00439-006-0317-8

By:

Ellis, Justine A.;
Scurrah, Katrina J.;
Cobb, Joanna E.;
Zaloumis, Sophie G.;
Duncan, Anna E.;
Harrap, Stephen B.

Publication type:

Article

An entropy-based genome-wide transmission/disequilibrium test.

Published in:

Human Genetics, 2007, v. 121, n. 3/4, p. 357, doi. 10.1007/s00439-007-0322-6

By:

Jinying Zhao;
Boerwinkle, Eric;
Momiao Xiong

Publication type:

Article

Enrichment of longevity phenotype in mtDNA haplogroups D4b2b, D4a, and D5 in the Japanese population.

Published in:

Human Genetics, 2007, v. 121, n. 3/4, p. 347, doi. 10.1007/s00439-007-0330-6

By:

Alexe, Gabriela;
Fuku, Noriyuki;
Bilal, Erhan;
Ueno, Hitomi;
Nishigaki, Yutaka;
Fujita, Yasunori;
Ito, Masafumi;
Arai, Yasumichi;
Hirose, Nobuyoshi;
Bhanot, Gyan;
Tanaka, Masashi

Publication type:

Article

Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations.

Published in:

Human Genetics, 2007, v. 121, n. 3/4, p. 389, doi. 10.1007/s00439-006-0308-9

By:

Kozlowski, Piotr;
Roberts, Penelope;
Dabora, Sandra;
Franz, David;
Bissler, John;
Northrup, Hope;
Sing Au, Kit;
Lazarus, Ross;
Domanska-Pakiela, Dorota;
Kotulska, Katarzyna;
Jozwiak, Sergiusz;
Kwiatkowski, David J.

Publication type:

Article

Common variation in KLKB1 and essential hypertension risk: tagging-SNP haplotype analysis in a case-control study.

Published in:

Human Genetics, 2007, v. 121, n. 3/4, p. 327, doi. 10.1007/s00439-007-0340-4

By:

Xiangfeng Lu;
Weiyan Zhao;
Jianfeng Huang;
Hongfan Li;
Wei Yang;
Laiyuan Wang;
Wentao Huang;
Shufeng Chen;
Dongfeng Gu

Publication type:

Article

Candidate SNPs for a universal individual identification panel.

Published in:

Human Genetics, 2007, v. 121, n. 3/4, p. 305, doi. 10.1007/s00439-007-0342-2

By:

Pakstis, Andrew J.;
Speed, William C.;
Kidd, Judith R.;
Kidd, Kenneth K.

Publication type:

Article

Systematic screening of lysyl oxidase-like (LOXL) family genes demonstrates that LOXL2 is a susceptibility gene to intracranial aneurysms.

Published in:

Human Genetics, 2007, v. 121, n. 3/4, p. 377, doi. 10.1007/s00439-007-0333-3

By:

Akagawa, Hiroyuki;
Narita, Akira;
Yamada, Haruhiko;
Tajima, Atsushi;
Krischek, Boris;
Kasuya, Hidetoshi;
Hori, Tomokatsu;
Kubota, Motoo;
Saeki, Naokatsu;
Hata, Akira;
Mizutani, Tohru;
Inoue, Ituro

Publication type:

Article

SP110 polymorphisms are not associated with pulmonary tuberculosis in a South African population.

Published in:

Human Genetics, 2007, v. 121, n. 3/4, p. 521, doi. 10.1007/s00439-007-0335-1

By:

Babb, C.;
Keet, E.;
van Helden, P.D.;
Hoal, E.G.

Publication type:

Article

Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome.

Published in:

Human Genetics, 2007, v. 121, n. 3/4, p. 369, doi. 10.1007/s00439-007-0336-0

By:

Wieczorek, Dagmar;
Ludwig, Michael;
Boehringer, Stefan;
Jongbloet, Piet Hein;
Gillessen-Kaesbach, Gabriele;
Horsthemke, Bernhard

Publication type:

Article

Heritability and shared environment estimates for myopia and associated ocular biometric traits: the Genes in Myopia (GEM) family study.

Published in:

Human Genetics, 2007, v. 121, n. 3/4, p. 511, doi. 10.1007/s00439-006-0312-0

By:

Chen, Christine Yi-Chin;
Scurrah, Katrina Jacqueline;
Stankovich, Jim;
Garoufalis, Pam;
Dirani, Mohamed;
Pertile, Kelly Kathleen;
Richardson, Andrea Jane;
Mitchell, Paul;
Baird, Paul Nigel

Publication type:

Article

Mutations in autism susceptibility candidate 2 ( AUTS2) in patients with mental retardation.

Published in:

Human Genetics, 2007, v. 121, n. 3/4, p. 501, doi. 10.1007/s00439-006-0284-0

By:

Kalscheuer, Vera M.;
FitzPatrick, David;
Tommerup, Niels;
Bugge, Merete;
Niebuhr, Erik;
Neumann, Luitgard M.;
Tzschach, Andreas;
Shoichet, Sarah A.;
Menzel, Corinna;
Erdogan, Fikret;
Arkesteijn, Ger;
Ropers, Hans-Hilger;
Ullmann, Reinhard

Publication type:

Article

Announcement.

Published in:: Human Genetics, 2007, v. 121, n. 3/4, p. 527, doi. 10.1007/s00439-007-0346-y
Publication type:: Article

Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.

Published in:

Human Genetics, 2007, v. 121, n. 3/4, p. 475, doi. 10.1007/s00439-006-0319-6

By:

Ramachandran, Ramya Devi;
Perumalsamy, Vijayalakshmi;
Hejtmancik, J. Fielding

Publication type:

Article

M. K. Raizada, J. F. R. Paton, S. Kasparov, M. J. Katovich (eds): Cardiovascular genomics.

Published in:

2007

By:

Loughna, Siobhan;
Rutland, Catrin

Publication type:

Book Review

The physical phenotype of girls and women with Turner syndrome is not X-imprinted.

Published in:

Human Genetics, 2007, v. 121, n. 3/4, p. 469, doi. 10.1007/s00439-007-0324-4

By:

Bondy, Carolyn A.;
Matura, Lea Ann;
Wooten, Nicole;
Troendle, James;
Zinn, Andrew R.;
Bakalov, Vladimir K.

Publication type:

Article

The advantages of dense marker sets for linkage analysis with very large families.

Published in:

Human Genetics, 2007, v. 121, n. 3/4, p. 459, doi. 10.1007/s00439-007-0323-5

By:

Thomson, Russell;
Quinn, Stephen;
McKay, James;
Silver, Jeremy;
Bahlo, Melanie;
FitzGerald, Liesel;
Foote, Simon;
Dickinson, Jo;
Stankovicha, Jim

Publication type:

Article

Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis.

Published in:

Human Genetics, 2007, v. 121, n. 3/4, p. 441, doi. 10.1007/s00439-007-0329-z

By:

Rizzolio, Flavio;
Sala, Cinzia;
Alboresi, Simone;
Bione, Silvia;
Gilli, Serena;
Goegan, Mara;
Pramparo, Tiziano;
Zuffardi, Orsetta;
Toniolo, Daniela

Publication type:

Article

Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.

Published in:

Human Genetics, 2007, v. 121, n. 3/4, p. 433, doi. 10.1007/s00439-006-0314-y

By:

Wiszniewski, Wojciech;
Lewis, Richard Alan;
Lupski, James R.

Publication type:

Article

Quantitative effects of common genetic variations in the 3′UTR of the human LDL-receptor gene and their associations with plasma lipid levels in the Atherosclerosis Risk in Communities study.

Published in:

Human Genetics, 2007, v. 121, n. 3/4, p. 421, doi. 10.1007/s00439-007-0327-1

By:

Muallem, Hind;
North, Kari E.;
Kakoki, Masao;
Wojczynski, Mary K.;
Xia Li;
Grove, Megan;
Boerwinkle, Eric;
Wilhelmsen, Kirk C.;
Heiss, Gerardo;
Maeda, Nobuyo

Publication type:

Article

A novel locus for autosomal recessive spastic ataxia on chromosome 17p.

Published in:

Human Genetics, 2007, v. 121, n. 3/4, p. 413, doi. 10.1007/s00439-007-0328-0

By:

Bouslam, Naima;
Bouhouche, Ahmed;
Benomar, Ali;
Hanein, Sylvain;
Klebe, Stephan;
Azzedine, Hamid;
Di Giandomenico, Silvia;
Boland-Augé, Anne;
Santorelli, Filippo M.;
Durr, Alexandra;
Brice, Alexis;
Yahyaoui, Mohamed;
Stevanin, Giovanni

Publication type:

Article

CYP19A1 polymorphisms are associated with bone mineral density in Chinese men.

Published in:

Human Genetics, 2007, v. 121, n. 3/4, p. 491, doi. 10.1007/s00439-006-0303-1

By:

Xiumei Hong;
Yi-Hsiang Hsu;
Terwedow, Henry;
Arguelles, Lester M.;
Genfu Tang;
Xue Liu;
Shanchun Zhang;
Xin Xu;
Xiping Xu

Publication type:

Article

Genetic variation in tumor necrosis factor and lymphotoxin-alpha ( TNF–LTA) and breast cancer risk.

Published in:

Human Genetics, 2007, v. 121, n. 3/4, p. 483, doi. 10.1007/s00439-006-0315-x

By:

Gaudet, Mia M.;
Egan, Kathleen M.;
Lissowska, Jolanta;
Newcomb, Polly A.;
Brinton, Louise A.;
Titus-Ernstoff, Linda;
Yeager, Meredith;
Chanock, Stephen;
Welch, Robert;
Peplonska, Beata;
Trentham-Dietz, Amy;
Garcia-Closas, Montserrat

Publication type:

Article

Edwin K. Silverman, Steven D. Shapiro, David A. Lomas, Scott T. Weiss: Respiratory Genetics.

Published in:

2007

By:

Hall, Ian P.

Publication type:

Book Review