Works matching IS 03406717 AND DT 2005 AND VI 117 AND IP 1

Results: 13

Ancestral origins of the prion protein gene D178N mutation in the Basque Country.

Published in:

Human Genetics, 2005, v. 117, n. 1, p. 61, doi. 10.1007/s00439-005-1277-0

By:

Rodríguez-Martínez, Ana B.;
Barreau, Christian;
Coupry, Isabelle;
Yagüe, Jordi;
Sánchez-Valle, Raquel;
Galdós-Alcelay, Luis;
x00ed;n#Ibáñez, Agust&;
x00f3;n#Digón, Ant&;
Fernández-Manchola, Ignacio;
Goizet, Cyril;
Castro, Azucena;
Cuevas, Nerea;
Alvarez-Alvarez, Maite;
Pancorbo, Marian;
x00ee;t#Arveiler, Beno&;
Zarranz, Juan J.

Publication type:

Article

Genetic evidence in support of a shared Eurasian-North African dairying origin.

Published in:

Human Genetics, 2005, v. 117, n. 1, p. 34, doi. 10.1007/s00439-005-1266-3

By:

Myles, Sean;
Bouzekri, Nourdine;
Haverfield, Eden;
Cherkaoui, Mohamed;
Dugoujon, Jean-Michel;
Ward, Ryk

Publication type:

Article

Functional promoter polymorphism in theTBX21gene associated with aspirin-induced asthma.

Published in:

Human Genetics, 2005, v. 117, n. 1, p. 16, doi. 10.1007/s00439-005-1285-0

By:

Akahoshi, Mitsuteru;
Obara, Kazuhiko;
Hirota, Tomomitsu;
Matsuda, Akira;
Hasegawa, Koichi;
Takahashi, Naomi;
Shimizu, Makiko;
Nakashima, Kazuko;
Lei Cheng;
Doi, Satoru;
Fujiwara, Hiroshi;
Miyatake, Akihiko;
Fujita, Kimie;
Higashi, Noritaka;
Taniguchi, Masami;
Enomoto, Tadao;
Xiao-Quan Mao;
Nakashima, Hitoshi;
Adra, Chaker;
Nakamura, Yusuke

Publication type:

Article

A homozygous nonsense mutation inSOX9in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion.

Published in:

Human Genetics, 2005, v. 117, n. 1, p. 43, doi. 10.1007/s00439-005-1295-y

By:

Pop, Ramona;
Zaragoza, Michael V.;
Gaudette, Mara;
Dohrmann, Ulrike;
Scherer, Gerd

Publication type:

Article

AHSGgene variant is associated with leanness among Swedish men.

Published in:

Human Genetics, 2005, v. 117, n. 1, p. 54, doi. 10.1007/s00439-005-1286-z

By:

Lavebratt, Catharina;
Wahlqvist, Sofia;
Nordfors, Louise;
Hoffstedt, Johan;
Arner, Peter

Publication type:

Article

Biochemical characterisation of the proteins encoded by the DiGeorge critical region 6 (DGCR6) genes.

Published in:

Human Genetics, 2005, v. 117, n. 1, p. 70, doi. 10.1007/s00439-005-1267-2

By:

Pfuhl, Thorsten;
Dürr, Matthias;
Spurk, Andreas;
x00f6;rn#Schwalbert, Bj&;
Nord, Ruth;
Mysliwietz, Josef;
Kremmer, Elisabeth;
Grässer, Friedrich A.

Publication type:

Article

Association between the neuron-specific RNA-binding protein ELAVL4 and Parkinson disease.

Published in:

Human Genetics, 2005, v. 117, n. 1, p. 27, doi. 10.1007/s00439-005-1259-2

By:

Noureddine, Maher A.;
Xue-Jun Qin;
Oliveira, Sofia A.;
Skelly, Tara J.;
van der Walt, Joelle;
Hauser, Michael A.;
Pericak-Vance, Margaret A.;
Vance, Jeffery M.;
Yi-Ju Li

Publication type:

Article

Dorian J. Pritchard, Bruce R. Korf (Eds): Medical Genetics at a Glance. Blackwell (2003) ISBN 0632063736, paperback, 120 pages, 48 illustrations, £15.95.

Published in:

2005

By:

Taylor, Clare

Publication type:

Book Review

Variation inITGB3has sex-specific associations with plasma lipoprotein(a) and whole blood serotonin levels in a population-based sample.

Published in:

Human Genetics, 2005, v. 117, n. 1, p. 81, doi. 10.1007/s00439-004-1250-3

By:

Weiss, Lauren A.;
Abney, Mark;
Parry, Rodney;
Scanu, Angelo M.;
Cook Jr., Edwin H.;
Ober, Carole

Publication type:

Article

De novo t(7;10)(q33;q23) translocation and closely juxtaposed microdeletion in a patient with macrocephaly and developmental delay.

Published in:

Human Genetics, 2005, v. 117, n. 1, p. 1, doi. 10.1007/s00439-005-1273-4

By:

Ying Yue;
Grossmann, Baerbel;
Holder, Susan E.;
Haaf, Thomas

Publication type:

Article

Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA).

Published in:

Human Genetics, 2005, v. 117, n. 1, p. 92, doi. 10.1007/s00439-005-1270-7

By:

Gatta, Valentina;
Scarciolla, Oronzo;
Gaspari, Anna Rita;
Palka, Chiara;
De Angelis, Maria Vittoria;
Di Muzio, Antonio;
Guanciali-Franchi, Paolo;
Calabrese, Giuseppe;
Uncini, Antonino;
Stuppia, Liborio

Publication type:

Article

Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss.

Published in:

Human Genetics, 2005, v. 117, n. 1, p. 9, doi. 10.1007/s00439-005-1276-1

By:

Zhiyuan#Li;
Ronghua#Li;
Jianfu#Chen;
Zhisu#Liao;
Yi Zhu;
Yaping#Qian;
Sudao Xiong;
Heman-Ackah, Selena;
Jianbo Wu;
Choo, Daniel;
Min-Xin Guan

Publication type:

Article

Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population.

Published in:

Human Genetics, 2005, v. 117, n. 1, p. 88, doi. 10.1007/s00439-005-1278-z

By:

Verbeek, Dineke S.;
van de Warrenburg, Bart P.C.;
Hennekam, F.A.M.;
Dooijes, Dennis;
Ippel, P. F.;
Verschuuren-Bemelmans, Corien C.;
Kremer, H. P. H.;
Sinke, Richard J.

Publication type:

Article