Works matching IS 03406717 AND DT 2005 AND VI 117 AND IP 6

Results: 9

Structural and functional analysis of a novel mutation of CYP21B in a heterozygote carrier of 21-hydroxylase deficiency.

Published in:

Human Genetics, 2005, v. 117, n. 6, p. 558, doi. 10.1007/s00439-005-1339-3

By:

Bojunga, Jörg;
Welsch, Christoph;
Antes, Iris;
Albrecht, Mario;
Lengauer, Thomas;
Zeuzem, Stefan

Publication type:

Article

A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein.

Published in:

Human Genetics, 2005, v. 117, n. 6, p. 528, doi. 10.1007/s00439-005-1332-x

By:

Wattenhofer, Marie;
Sahin-Calapoglu, Nilüfer;
Andreasen, Ditte;
Kalay, Ersan;
Caylan, Refik;
Braillard, Bastien;
Fowler-Jaeger, Nicole;
Reymond, Alexandre;
Rossier, Bernard C.;
Karaguzel, Ahmet;
Antonarakis, Stylianos E.

Publication type:

Article

Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase.

Published in:

Human Genetics, 2005, v. 117, n. 6, p. 565, doi. 10.1007/s00439-005-1341-9

By:

Leimkühler, Silke;
Charcosset, Mathilde;
Latour, Philippe;
Dorche, Claude;
Kleppe, Soledad;
Scaglia, Fernando;
Szymczak, Irmina;
Schupp, Petra;
Hahnewald, Rita;
Reiss, Jochen

Publication type:

Article

Michael Schmid, Indrajit Nanda (eds): Chromosomes Today, Vol 14, Kluwer, 2004, ISBN 1-4020-0091-X, hardcover, £76.

Published in:

2005

By:

Howell, Rod

Publication type:

Book Review

Use of autosomal loci for clustering individuals and populations of East Asian origin.

Published in:

Human Genetics, 2005, v. 117, n. 6, p. 511, doi. 10.1007/s00439-005-1334-8

By:

Jong-Jin Kim;
Verdu, Paul;
Pakstis, Andrew J.;
Speed, William C.;
Kidd, Judith R.;
Kidd, Kenneth K.

Publication type:

Article

Complex HTR2C linkage disequilibrium and promoter associations with body mass index and serum leptin.

Published in:

Human Genetics, 2005, v. 117, n. 6, p. 545, doi. 10.1007/s00439-005-1328-6

By:

McCarthy, Shane;
Mottagui-Tabar, Salim;
Mizuno, Yumi;
Sennblad, Bengt;
Hoffstedt, Johan;
Arner, Peter;
Wahlestedt, Claes;
Andersson, Björn

Publication type:

Article

Reciprocal translocations: a trap for cytogenetists?

Published in:

Human Genetics, 2005, v. 117, n. 6, p. 571, doi. 10.1007/s00439-005-1324-x

By:

Ciccone, Roberto;
Giorda, Roberto;
Gregato, Giuliana;
Guerrini, Renzo;
Giglio, Sabrina;
Carrozzo, Romeo;
Bonaglia, Maria Clara;
Priolo, Emanuela;
Laganà, Carmelo;
Tenconi, Romano;
Rocchi, Mariano;
Pramparo, Tiziano;
Zuffardi, Orsetta;
Rossi, Elena

Publication type:

Article

Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly.

Published in:

Human Genetics, 2005, v. 117, n. 6, p. 536, doi. 10.1007/s00439-005-1310-3

By:

Shoichet, Sarah A.;
Kunde, Stella-Amrei;
Viertel, Petra;
Schell-Apacik, Can;
von Voss, Hubertus;
Tommerup, Niels;
Ropers, Hans-Hilger;
Kalscheuer, Vera M.

Publication type:

Article

Genetic association analyses of PHOX2B and ASCL1 in neuropsychiatric disorders: evidence for association of ASCL1 with Parkinson’s disease.

Published in:

Human Genetics, 2005, v. 117, n. 6, p. 520, doi. 10.1007/s00439-005-1342-8

By:

Ide, Masayuki;
Yamada, Kazuo;
Toyota, Tomoko;
Iwayama, Yoshimi;
Ishitsuka, Yuichi;
Minabe, Yoshio;
Nakamura, Kazuhiko;
Hattori, Nobutaka;
Asada, Takashi;
Mizuno, Yoshikuni;
Mori, Norio;
Yoshikawa, Takeo

Publication type:

Article