Works matching IS 03406717 AND DT 2005 AND VI 116 AND IP 4

Results: 11

Aubrey Milunsky (Ed): Genetic disorders and the fetus. Diagnosis, prevention and treatment (fifth edition). The Johns Hopkins University Press (2004), ISBN 0-8018-7928-0, hardcover, £160.50.

Published in:

2005

By:

Tolmie, John

Publication type:

Book Review

Methylenetetrahydrofolate reductase (MTHFR) and susceptibility for (pre)neoplastic cervical disease.

Published in:

Human Genetics, 2005, v. 116, n. 4, p. 247, doi. 10.1007/s00439-004-1233-4

By:

Zoodsma, Margreet;
Nolte, Ilja M.;
Schipper, Martin;
Oosterom, Elvira;
van der Steege, Gerrit;
de Vries, Elisabeth G. E.;
te Meerman, Gerard J.;
van der Zee, Ate G. J.

Publication type:

Article

Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology.

Published in:

Human Genetics, 2005, v. 116, n. 4, p. 255, doi. 10.1007/s00439-004-1236-1

By:

Mackay, Deborah J. G.;
Temple, I. Karen;
Shield, Julian P. H.;
Robinson, David O.

Publication type:

Article

Oculopharyngeal muscular dystrophy (OPMD): analysis of thePABPN1gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism.

Published in:

Human Genetics, 2005, v. 116, n. 4, p. 267, doi. 10.1007/s00439-004-1235-2

By:

Robinson, David O.;
Hammans, Simon R.;
Read, Steven P.;
Sillibourne, Julie

Publication type:

Article

Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangments.

Published in:

Human Genetics, 2005, v. 116, n. 4, p. 262, doi. 10.1007/s00439-004-1237-0

By:

Buzhov, Borian T.;
Lemmers, Richard J. L. F.;
Tournev, Ivailo;
Dikova, Chayka;
Kremensky, Ivo;
Petrova, Julia;
Frants, Rune R.;
van derMaarel, Silvère M.

Publication type:

Article

Association of Ala72Ser polymorphism with COMT enzyme activity and the risk of schizophrenia in Koreans.

Published in:

Human Genetics, 2005, v. 116, n. 4, p. 319, doi. 10.1007/s00439-004-1239-y

By:

Lee, Seong-Gene;
Joo, Yeonho;
Kim, Byungsu;
Chung, Seockhoon;
Kim, Hie-Lim;
Lee, Inchul;
Choi, Boyoul;
Kim, Changyoon;
Song, Kyuyoung

Publication type:

Article

A genomewide scan of male sexual orientation.

Published in:

Human Genetics, 2005, v. 116, n. 4, p. 272, doi. 10.1007/s00439-004-1241-4

By:

Mustanski, Brian S.;
DuPree, Michael G.;
Nievergelt, Caroline M.;
Bocklandt, Sven;
Schork, Nicholas J.;
Hamer, Dean H.

Publication type:

Article

Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.

Published in:

Human Genetics, 2005, v. 116, n. 4, p. 292, doi. 10.1007/s00439-004-1227-2

By:

Ouyang, Xiao Mei;
Yan, Denise;
Du, Li Lin;
Hejtmancik, J. Fielding;
Jacobson, Samuel G.;
Nance, Walter E.;
Li, An Ren;
Angeli, Simon;
Kaiser, Muriel;
Newton, Valerie;
Brown, Steve D. M.;
Balkany, Thomas;
Liu, Xue Zhong

Publication type:

Article

Signature of recent historical events in the European Y-chromosomal STR haplotype distribution.

Published in:

Human Genetics, 2005, v. 116, n. 4, p. 279, doi. 10.1007/s00439-004-1201-z

By:

Roewer, Lutz;
Croucher, Peter J. P.;
Willuweit, Sascha;
Lu, Tim T.;
Kayser, Manfred;
Lessig, Rüdiger;
de Knijff, Peter;
Jobling, Mark A.;
Tyler-Smith, Chris;
Krawczak, Michael

Publication type:

Article

Molecular distinction between true centric fission and pericentric duplication-fission.

Published in:

Human Genetics, 2005, v. 116, n. 4, p. 300, doi. 10.1007/s00439-004-1209-4

By:

Perry, Jo;
Nouri, Sara;
La, Phung;
Daniel, Art;
Wu, Zhanhe;
Purvis-Smith, Stuart;
Northrop, Emma;
Choo, K. H. Andy;
Slater, Howard R.

Publication type:

Article

Non-recombining chromosome Y haplogroups and centromericHindIII RFLP in relation to blood pressure in 2,743 middle-aged Caucasian men from the UK.

Published in:

Human Genetics, 2005, v. 116, n. 4, p. 311, doi. 10.1007/s00439-004-1221-8

By:

Rodríguez, Santiago;
Chen, Xiao-he;
Miller, George J.;
Day, Ian N. M.

Publication type:

Article