Works matching IS 03406717 AND DT 2007 AND VI 122 AND IP 3/4

Results: 22

Variation in estimated recombination rates across human populations.

Published in:

Human Genetics, 2007, v. 122, n. 3/4, p. 301, doi. 10.1007/s00439-007-0391-6

By:

Graffelman, Jan;
Balding, David J.;
Gonzalez-Neira, Anna;
Bertranpetit, Jaume

Publication type:

Article

Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene.

Published in:

Human Genetics, 2007, v. 122, n. 3/4, p. 293, doi. 10.1007/s00439-007-0395-2

By:

Qingjiong Zhang;
Zulfiqar, Fareeha;
Xueshan Xiao;
Riazuddin, S. Amer;
Ahmad, Zahoor;
Caruso, Raphael;
MacDonald, Ian;
Sieving, Paul;
Riazuddin, Sheikh;
Hejtmancik, J. Fielding

Publication type:

Article

The effects of polymorphisms in genes from the renin–angiotensin, bradykinin, and fibrinolytic systems on plasma t-PA and PAI-1 levels are dependent on environmental context.

Published in:

Human Genetics, 2007, v. 122, n. 3/4, p. 275, doi. 10.1007/s00439-007-0400-9

By:

Asselbergs, Folkert W.;
Williams, Scott M.;
Hebert, Patricia R.;
Coffey, Christopher S.;
Hillege, Hans L.;
Snieder, Harold;
Navis, Gerjan;
Vaughan, Douglas E.;
van Gilst, Wiek H.;
Moore, Jason H.

Publication type:

Article

Polymorphisms in the 3′ UTR in the neurocalcin δ gene affect mRNA stability, and confer susceptibility to diabetic nephropathy.

Published in:

Human Genetics, 2007, v. 122, n. 3/4, p. 397, doi. 10.1007/s00439-007-0414-3

By:

Kamiyama, Masumi;
Kobayashi, Masaaki;
Araki, Shin-ichi;
Iida, Aritoshi;
Tsunoda, Tatsuhiko;
Kawai, Koichi;
Imanishi, Masahito;
Nomura, Makoto;
Babazono, Tetsuya;
Iwamoto, Yasuhiko;
Kashiwagi, Atsunori;
Kaku, Kohei;
Kawamori, Ryuzou;
Ng, Daniel P. K.;
Hansen, Torben;
Gaede, Peter;
Pedersen, Oluf;
Nakamura, Yusuke;
Maeda, Shiro

Publication type:

Article

Germ-line DNA copy number variation frequencies in a large North American population.

Published in:

Human Genetics, 2007, v. 122, n. 3/4, p. 345, doi. 10.1007/s00439-007-0404-5

By:

Zogopoulos, George;
Ha, Kevin C. H.;
Naqib, Faisal;
Moore, Sara;
Kim, Hyeja;
Montpetit, Alexandre;
Robidoux, Frederick;
Laflamme, Philippe;
Cotterchio, Michelle;
Greenwood, Celia;
Scherer, Stephen W.;
Zanke, Brent;
Hudson, Thomas J.;
Bader, Gary D.;
Gallinger, Steven

Publication type:

Article

Synergistic contribution of CD14 and HLA loci in the susceptibility to Buerger disease.

Published in:

Human Genetics, 2007, v. 122, n. 3/4, p. 367, doi. 10.1007/s00439-007-0408-1

By:

Zhiyong Chen;
Takahashi, Megumi;
Naruse, Taeko;
Nakajima, Toshiaki;
Yi-Wen Chen;
Inoue, Yoshinori;
Ishikawa, Isao;
Iwai, Takehisa;
Kimura, Akinori

Publication type:

Article

Refinement of the genetic cause of ATR-16.

Published in:

Human Genetics, 2007, v. 122, n. 3/4, p. 283, doi. 10.1007/s00439-007-0399-y

By:

Harteveld, Cornelis L.;
Kriek, Marjolein;
Bijlsma, Emilia K.;
Erjavec, Zoran;
Balak, Deepak;
Phylipsen, Marion;
Voskamp, Astrid;
di Capua, Emmanora;
White, Stefan J.;
Giordano, Piero C.

Publication type:

Article

Multilocus OCA2 genotypes specify human iris colors.

Published in:

Human Genetics, 2007, v. 122, n. 3/4, p. 311, doi. 10.1007/s00439-007-0401-8

By:

Frudakis, Tony;
Terravainen, Timothy;
Thomas, Matthew

Publication type:

Article

Genetic variation in prehistoric Sardinia.

Published in:

Human Genetics, 2007, v. 122, n. 3/4, p. 327, doi. 10.1007/s00439-007-0403-6

By:

Caramelli, David;
Vernesi, Cristiano;
Sanna, Simona;
Sampietro, Lourdes;
Lari, Martina;
Castrì, Loredana;
Vona, Giuseppe;
Floris, Rosalba;
Francalacci, Paolo;
Tykot, Robert;
Casoli, Antonella;
Bertranpetit, Jaume;
Lalueza-Fox, Carles;
Bertorelle, Giorgio;
Barbujani, Guido

Publication type:

Article

In vitro and ex vivo suppression by aminoglycosides of PCDH15 nonsense mutations underlying type 1 Usher syndrome.

Published in:

Human Genetics, 2007, v. 122, n. 3/4, p. 373, doi. 10.1007/s00439-007-0410-7

By:

Rebibo-Sabbah, Annie;
Nudelman, Igor;
Ahmed, Zubair M.;
Baasov, Timor;
Ben-Yosef, Tamar

Publication type:

Article

Evidence for a large double-cruciform DNA structure on the X chromosome of human and chimpanzee.

Published in:

Human Genetics, 2007, v. 122, n. 3/4, p. 337, doi. 10.1007/s00439-007-0405-4

By:

Losch, Florian O.;
Bredenbeck, Anne;
Hollstein, Verena M.;
Walden, Peter;
Wrede, Paul

Publication type:

Article

Variation in the selenoprotein S gene locus is associated with coronary heart disease and ischemic stroke in two independent Finnish cohorts.

Published in:

Human Genetics, 2007, v. 122, n. 3/4, p. 355, doi. 10.1007/s00439-007-0402-7

By:

Alanne, Mervi;
Kristiansson, Kati;
Auro, Kirsi;
Silander, Kaisa;
Kuulasmaa, Kari;
Peltonen, Leena;
Salomaa, Veikko;
Perola, Markus

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:

2007

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:

Correction Notice

Novel human pathological mutations.

Published in:: Human Genetics, 2007, v. 122, n. 3/4, p. 413, doi. 10.1007/s00439-007-0411-6
Publication type:: Article

Progress in defining the molecular biology of age related macular degeneration.

Published in:

Human Genetics, 2007, v. 122, n. 3/4, p. 219, doi. 10.1007/s00439-007-0406-3

By:

Lotery, Andrew;
Trump, Dorothy

Publication type:

Article

Comments on the paper by D. Li and L. He: Meta-analysis shows association between the tryptophan hydroxylase ( TPH) gene and schizophrenia.

Published in:

2007

By:

Sand, P. G.

Publication type:

Letter

Tagging SNPs in the kallikrein genes 3 and 2 on 19q13 and their associations with prostate cancer in men of European origin.

Published in:

Human Genetics, 2007, v. 122, n. 3/4, p. 251, doi. 10.1007/s00439-007-0394-3

By:

Pal, Prodipto;
Huifeng Xi;
Guangyun Sun;
Kaushal, Ritesh;
Meeks, Joshua J.;
Thaxton, C. Shad;
Guha, Saurav;
Jin, Carol H.;
Suarez, Brian K.;
Catalona, William J.;
Deka, Ranjan

Publication type:

Article

Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum.

Published in:

Human Genetics, 2007, v. 122, n. 3/4, p. 389, doi. 10.1007/s00439-007-0409-0

By:

Ali, Bassam R.;
Jeffery, Steve;
Patel, Neha;
Tinworth, Lorna E.;
Meguid, Nagwa;
Patton, Michael A.;
Afzal, Ali R.

Publication type:

Article

Editorial.

Published in:

2007

By:

Cooper, David N.;
Hudson, Thomas J.

Publication type:

Editorial

A novel locus for autosomal dominant “uncomplicated” hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3.

Published in:

Human Genetics, 2007, v. 122, n. 3/4, p. 261, doi. 10.1007/s00439-007-0396-1

By:

Hanein, Sylvain;
Dürr, Alexandra;
Ribai, Pascale;
Forlani, Sylvie;
Leutenegger, Anne-Louise;
Nelson, Isabelle;
Babron, Marie-Claude;
Elleuch, Nizar;
Depienne, Christel;
Charon, Céline;
Brice, Alexis;
Stevanin, Giovanni

Publication type:

Article

Molecular characterization of a polymorphic 3-Mb deletion at chromosome Yp11.2 containing the AMELY locus in Singapore and Malaysia populations.

Published in:

Human Genetics, 2007, v. 122, n. 3/4, p. 237, doi. 10.1007/s00439-007-0389-0

By:

Yong, Rita Y. Y.;
Gan, Linda S. H.;
Yuet Meng Chang;
Yap, Eric P. H.

Publication type:

Article

Y chromosomes of prehistoric people along the Yangtze River.

Published in:

Human Genetics, 2007, v. 122, n. 3/4, p. 383, doi. 10.1007/s00439-007-0407-2

By:

Hui Li;
Ying Huang;
Mustavich, Laura F.;
Fan Zhang;
Jing-Ze Tan;
Wang, Ling-E.;
Ji Qian;
Meng-He Gao;
Li Jin

Publication type:

Article