Works matching IS 03406717 AND DT 2005 AND VI 116 AND IP 6

Results: 13

A neutral variant involved in a complexCFTRallele contributes to a severe cystic fibrosis phenotype.

Published in:

Human Genetics, 2005, v. 116, n. 6, p. 454, doi. 10.1007/s00439-004-1246-z

By:

Clain, Jérôme;
Lehmann-Che, Jacqueline;
Girodon, Emmanuelle;
Lipecka, Joanna;
Edelman, Aleksander;
Goossens, Michel;
Fanen, Pascale

Publication type:

Article

Different population histories of the Mundari- and Mon-Khmer-speaking Austro-Asiatic tribes inferred from the mtDNA 9-bp deletion/insertion polymorphism in Indian populations.

Published in:

Human Genetics, 2005, v. 116, n. 6, p. 507, doi. 10.1007/s00439-005-1271-6

By:

Thangaraj, Kumarasamy;
Sridhar, Vempati;
Kivisild, Toomas;
Reddy, Alla G.;
Chaubey, Gyaneshwer;
Singh, Vijay Kumar;
Kaur, Suminder;
Agarawal, Pooja;
Rai, Amit;
Gupta, Jalaj;
Mallick, Chandana;
Kumar, Niraj;
Velavan, Thrimulaisamy P.;
Suganthan, Rajanbabu;
Udaykumar, Divi;
Kumar, Rashmi;
Mishra, Rachana;
Khan, Arif;
Annapurna, Chitikineni;
Singh, Lalji

Publication type:

Article

On the evolutionary mutation rate at Y-chromosome STRs: comments on paper by Di Giacomo et al. (2004).

Published in:

2005

By:

Zhivotovsky, Lev A.;
Underhill, Peter A.

Publication type:

Letter

BRCA1 variants in a family study of African-American and Latina women.

Published in:

Human Genetics, 2005, v. 116, n. 6, p. 497, doi. 10.1007/s00439-004-1240-5

By:

McKean-Cowdin, Roberta;
Feigelson, Heather Spencer;
Xia, Lucy Y.;
Pearce, Celeste Leigh;
Thomas, Duncan C.;
Stram, Daniel O.;
Henderson, Brian E.

Publication type:

Article

Homeodomain revisited: a lesson from disease-causing mutations.

Published in:

Human Genetics, 2005, v. 116, n. 6, p. 433, doi. 10.1007/s00439-004-1252-1

By:

Young-In Chi

Publication type:

Article

Matrix Gla protein and osteopontin genetic associations with coronary artery calcification and bone density: the CARDIA study.

Published in:

Human Genetics, 2005, v. 116, n. 6, p. 525, doi. 10.1007/s00439-005-1258-3

By:

Taylor, Brent C.;
Schreiner, Pamela J.;
Doherty, Terence M.;
Fornage, Myriam;
Carr, J. Jeffrey;
Sidney, Steve

Publication type:

Article

FISH analysis of hematological neoplasias with 1p36 rearrangements allows the definition of a cluster of 2.5 Mb included in the minimal region deleted in 1p36 deletion syndrome.

Published in:

Human Genetics, 2005, v. 116, n. 6, p. 476, doi. 10.1007/s00439-005-1268-1

By:

Lahortiga, Idoya;
Vázquez, Iria;
Belloni, Elena;
Román, José;
Gasparini, Patrizia;
Novo, Francisco J.;
Zudaire, Isabel;
Pelicci, Pier G.;
Hernández, Jesús;
Calasanz, María J.;
Odero, María D.

Publication type:

Article

Rapid genotyping for most commonTGFBImutations with real-time polymerase chain reaction.

Published in:

Human Genetics, 2005, v. 116, n. 6, p. 518, doi. 10.1007/s00439-005-1269-0

By:

Yoshida, Shigeo;
Yamaji, Yoko;
Yoshida, Ayako;
Noda, Yoshihiro;
Kumano, Yuji;
Ishibashi, Tatsuro

Publication type:

Article

Expression of mutantJAGGED1alleles in patients with Alagille syndrome.

Published in:

Human Genetics, 2005, v. 116, n. 6, p. 445, doi. 10.1007/s00439-005-1262-7

By:

Boyer, Julie;
Crosnier, Cécile;
Driancourt, Catherine;
Raynaud, Nicole;
Gonzales, Marie;
Hadchouel, Michelle;
Meunier-Rotival, Michèle

Publication type:

Article

Evidence for genetic anticipation in hereditary non-polyposis colorectal cancer.

Published in:

Human Genetics, 2005, v. 116, n. 6, p. 461, doi. 10.1007/s00439-005-1272-5

By:

Westphalen, Alexander A.;
Russell, Anna M.;
Buser, Mauro;
Berthod, Claudine Rey;
Hutter, Pierre;
Plasilova, Martina;
Mueller, Hansjakob;
Heinimann, Karl

Publication type:

Article

Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2.

Published in:

Human Genetics, 2005, v. 116, n. 6, p. 466, doi. 10.1007/s00439-005-1265-4

By:

Kehrer-Sawatzki, Hildegard;
Kluwe, Lan;
Fünsterer, Carsten;
Mautner, Victor-Felix

Publication type:

Article

Microarray analysis of theDf1mouse model of the 22q11 deletion syndrome.

Published in:

Human Genetics, 2005, v. 116, n. 6, p. 486, doi. 10.1007/s00439-005-1274-3

By:

Prescott, Katrina;
Ivins, Sarah;
Hubank, Mike;
Lindsay, Elizabeth;
Baldini, Antonio;
Scambler, Peter

Publication type:

Article

Human Gene Mutations.

Published in:: Human Genetics, 2005, v. 116, n. 6, p. 533, doi. 10.1007/s00439-005-1283-2
Publication type:: Article