Works matching IS 03406717 AND DT 2005 AND VI 118 AND IP 2

Results: 19

Major histocompatibility complex and alveolar epithelial apoptosis in idiopathic pulmonary fibrosis.

Published in:

Human Genetics, 2005, v. 118, n. 2, p. 235, doi. 10.1007/s00439-005-0035-7

By:

Falfán-Valencia, Ramcés;
Camarena, Angel;
Juárez, Armida;
Becerril, Carina;
Montaño, Martha;
Cisneros, José;
Mendoza, Felipe;
Granados, Julio;
Pardo, Annie;
Selman, Moisés

Publication type:

Article

Mitochondrial polymorphisms and susceptibility to type 2 diabetes-related traits in Finns.

Published in:

Human Genetics, 2005, v. 118, n. 2, p. 245, doi. 10.1007/s00439-005-0046-4

By:

Mohlke, Karen L.;
Jackson, Anne U.;
Scott, Laura J.;
Peck, Erin C.;
Suh, Yong D.;
Chines, Peter S.;
Watanabe, Richard M.;
Buchanan, Thomas A.;
Conneely, Karen N.;
Erdos, Michael R.;
Narisu, Narisu;
Enloe, Sareena;
Valle, Timo T.;
Tuomilehto, Jaakko;
Bergman, Richard N.;
Boehnke, Michael;
Collins, Francis S.

Publication type:

Article

Independent methods for evolutionary genetic dating provide insights into Y-chromosomal STR mutation rates confirming data from direct father–son transmissions.

Published in:

Human Genetics, 2005, v. 118, n. 2, p. 153, doi. 10.1007/s00439-005-0028-6

By:

Luca, Francesca;
Basile, M.;
Di Giacomo, F.;
Novelletto, A.

Publication type:

Article

Familial aggregation in lone atrial fibrillation.

Published in:

Human Genetics, 2005, v. 118, n. 2, p. 179, doi. 10.1007/s00439-005-0034-8

By:

Ellinor, Patrick T.;
Yoerger, Danita M.;
Ruskin, Jeremy N.;
MacRae, Calum A.

Publication type:

Article

Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD).

Published in:

Human Genetics, 2005, v. 118, n. 2, p. 185, doi. 10.1007/s00439-005-0027-7

By:

Losekoot, Monique;
Haarloo, Cathleen;
Ruivenkamp, Claudia;
White, Stefan J.;
Breuning, Martijn H.;
Peters, Dorien J. M.

Publication type:

Article

Direct duplication 12p11.21–p13.31 mediated by segmental duplications: a new recurrent rearrangement?

Published in:

Human Genetics, 2005, v. 118, n. 2, p. 207, doi. 10.1007/s00439-005-0008-x

By:

De Gregori, Manuela;
Pramparo, Tiziano;
Memo, Luigi;
Gimelli, Giorgio;
Messa, Jole;
Rocchi, Mariano;
Patricelli, Maria Grazia;
Ciccone, Roberto;
Giorda, Roberto;
Zuffardi, Orsetta

Publication type:

Article

The position of premature termination codons in the hepatocyte nuclear factor −1 beta gene determines susceptibility to nonsense-mediated decay.

Published in:

Human Genetics, 2005, v. 118, n. 2, p. 214, doi. 10.1007/s00439-005-0023-y

By:

Harries, L. W.;
Bingham, Coralie;
Bellanne-Chantelot, Christine;
Hattersley, A. T.;
Ellard, Sian

Publication type:

Article

DNA Methylation and Replication: Implications for the “Deletion Hotspot” Region of FMR1.

Published in:

Human Genetics, 2005, v. 118, n. 2, p. 301, doi. 10.1007/s00439-005-0037-5

By:

Edamura, K. Nichol;
Pearson, C. E.

Publication type:

Article

Polymorphisms of complement receptor 1 and interleukin-10 genes and systemic lupus erythematosus: a meta-analysis.

Published in:

Human Genetics, 2005, v. 118, n. 2, p. 225, doi. 10.1007/s00439-005-0044-6

By:

Nath, Swapan K.;
Harley, John B.;
Young Ho Lee

Publication type:

Article

A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification.

Published in:

Human Genetics, 2005, v. 118, n. 2, p. 261, doi. 10.1007/s00439-005-0026-8

By:

Chefetz, Ilana;
Heller, Raoul;
Galli-Tsinopoulou, Assimina;
Richard, Gabriele;
Wollnik, Bernd;
Indelman, Margarita;
Koerber, Friederike;
Topaz, Orit;
Bergman, Reuven;
Sprecher, Eli;
Schoenau, Eckhard

Publication type:

Article

Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a ∼0.5-Mb submicroscopic deletion in a patient with mild mental retardation.

Published in:

Human Genetics, 2005, v. 118, n. 2, p. 267, doi. 10.1007/s00439-005-0021-0

By:

Borg, Katarzyna;
Stankiewicz, Paweł;
Bocian, Ewa;
Kruczek, Anna;
Obersztyn, Ewa;
Lupski, James;
Mazurczak, Tadeusz

Publication type:

Article

Mortality and cancer incidence in women with extra X chromosomes: a cohort study in Britain.

Published in:

Human Genetics, 2005, v. 118, n. 2, p. 255, doi. 10.1007/s00439-005-0043-7

By:

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

Publication type:

Article

IL-10 promoter single nucleotide polymorphisms are significantly associated with resistance to leprosy.

Published in:

Human Genetics, 2005, v. 118, n. 2, p. 295, doi. 10.1007/s00439-005-0042-8

By:

Malhotra, Dheeraj;
Darvishi, Katayoon;
Sood, Soni;
Sharma, Swarkar;
Grover, Chander;
Relhan, Vineet;
Reddy, B. S. N.;
Bamezai, R. N. K.

Publication type:

Article

Genetic prion disease: the EUROCJD experience.

Published in:

Human Genetics, 2005, v. 118, n. 2, p. 166, doi. 10.1007/s00439-005-0020-1

By:

Kovács, Gábor;
Puopolo, Maria;
Ladogana, Anna;
Pocchiari, Maurizio;
Budka, Herbert;
van Duijn, Cornelia;
Collins, Steven J.;
Boyd, Alison;
Giulivi, Antonio;
Coulthart, Mike;
Delasnerie-Laupretre, Nicole;
Brandel, Jean Philippe;
Zerr, Inga;
Kretzschmar, Hans A.;
de Pedro-Cuesta, Jesus;
Calero-Lara, Miguel;
Glatzel, Markus;
Aguzzi, Adriano;
Bishop, Matthew;
Knight, Richard

Publication type:

Article

Genetic variability in a genomic region with long-range linkage disequilibrium reveals traces of a bottleneck in the history of the European population.

Published in:

Human Genetics, 2005, v. 118, n. 2, p. 276, doi. 10.1007/s00439-005-0056-2

By:

Schmegner, Claudia;
Hoegel, Josef;
Vogel, Walther;
Assum, Günter

Publication type:

Article

Interaction between inflammation-related gene polymorphisms and cigarette smoking on the risk of myocardial infarction in the Physician’s Health Study.

Published in:

Human Genetics, 2005, v. 118, n. 2, p. 287, doi. 10.1007/s00439-005-0052-6

By:

Rosner, Sarah A.;
Ridker, Paul M.;
Zee, Robert Y. L.;
Cook, Nancy R.

Publication type:

Article

A major locus for hereditary prostate cancer in Finland: localization by linkage disequilibrium of a haplotype in the HPCX region.

Published in:

2005

By:

Baffoe-Bonnie, Agnes B.;
Smith, Jeffrey R.;
Stephan, Dietrich A.;
Schleutker, Johanna;
Carpten, John D.;
Kainu, Tommi;
Gillanders, Elizabeth M.;
Matikainen, Mika;
Teslovich, Tanya M.;
Tammela, Teuvo;
Sood, Raman;
Balshem, Andrew M.;
Scarborough, Sheehan D.;
Jianfeng Xu;
Isaacs, William B.;
Trent, Jeffrey M.;
Kallioniemi, Olli-P.;
Bailey-Wilson, Joan E.

Publication type:

Correction Notice

A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia.

Published in:

Human Genetics, 2005, v. 118, n. 2, p. 175, doi. 10.1007/s00439-005-0058-0

By:

Miyamoto, Yoshinari;
Nakashima, Eiji;
Hiraoka, Hisatada;
Ohashi, Hirofumi;
Ikegawa, Shiro

Publication type:

Article

A genetic and cultural odyssey. The life and work of L. Luca Cavalli-Sforza (2005). By Linda Stone, Columbia University Press, 248 pages, 40,50 Euro, ISBN 0-231-13396-0.

Published in:

2005

By:

Harper, Peter S.

Publication type:

Book Review