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

Results: 9

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
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
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
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
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
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
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