Works matching IS 03406717 AND DT 2000 AND VI 107 AND IP 5

Results: 15

Differential somatic CAG repeat instability in variable brain cell lineage in dentatorubral pallidoluysian atrophy (DRPLA): a laser-captured microdissection (LCM)-based analysis.

Published in:

Human Genetics, 2000, v. 107, n. 5, p. 452, doi. 10.1007/s004390000400

By:

Watanabe, Hidetaka;
Tanaka, Fumiaki;
Doyu, Manabu;
Riku, Shigeo;
Yoshida, Mari;
Hashizume, Yoshio;
Sobue, Gen

Publication type:

Article

Identification of an intronic regulatory element in the human protein C (PROC) gene.

Published in:

Human Genetics, 2000, v. 107, n. 5, p. 458, doi. 10.1007/s004390000391

By:

Shamsher, Monee K.;
Chuzhanova, Nadia A.;
Friedman, Brad;
Scopes, Deborah A.;
Alhaq, Anwar;
Millar, David S.;
Cooper, David N.;
Berg, Lutz-Peter

Publication type:

Article

Characterization of the human nebulette gene: a polymorphism in an actin-binding motif is associated with nonfamilial idiopathic dilated cardiomyopathy.

Published in:

Human Genetics, 2000, v. 107, n. 5, p. 440, doi. 10.1007/s004390000389

By:

Arimura, Takuro;
Nakamura, Takeyuki;
Hiroi, Shitoshi;
Satoh, Manatsu;
Takahashi, Megumi;
Ohbuchi, Nobuhisa;
Ueda, Kazuo;
Nouchi, Tatsuhito;
Yamaguchi, Noriko;
Akai, Jun;
Matsumori, Akira;
Sasayama, Sigetake;
Kimura, Akinori

Publication type:

Article

High-throughput SNP detection by using DNA pooling and denaturing high performance liquid chromatography (DHPLC).

Published in:

Human Genetics, 2000, v. 107, n. 5, p. 483, doi. 10.1007/s004390000396

By:

Wolford, Johanna K.;
Blunt, Dalia;
Ballecer, Conrad;
Prochazka, Michal

Publication type:

Article

Refined localization of a gene for pediatric gastroesophageal reflux makes HTR2A an unlikely candidate gene.

Published in:

Human Genetics, 2000, v. 107, n. 5, p. 519, doi. 10.1007/s004390000405

By:

Fen Ze Hu;
Post, J. Christopher;
Johnson, Sandra;
Ehrlich, Garth D.;
Preston, Robert A.

Publication type:

Article

Association analysis of GABA<sub>A</sub> β2 and γ2 gene polymorphisms with event-related prefrontal activity in man.

Published in:

Human Genetics, 2000, v. 107, n. 5, p. 513, doi. 10.1007/s004390000401

By:

Winterer, Georg;
Smolka, Michael;
Samochowiec, Jerzy;
Mulert, Christoph;
Ziller, Mario;
Mahlberg, Richard;
Wuebben, Yvonne;
Gallinat, Jürgen;
Rommelspacher, Hans;
Herrmann, Werner;
Sander, Thomas

Publication type:

Article

Cheap, accurate and rapid allele frequency estimation of single nucleotide polymorphisms by primer extension and DHPLC in DNA pools.

Published in:

Human Genetics, 2000, v. 107, n. 5, p. 488, doi. 10.1007/s004390000397

By:

Hoogendoorn, Bastiaan;
Norton, Nadine;
Kirov, George;
Williams, Nigel;
Hamshere, Marian L.;
Spurlock, Gillian;
Austin, Jehannine;
Stephens, Mark K.;
Buckland, Paul R.;
Owen, Michael J.;
O'Donovan, Michael C.

Publication type:

Article

Evolutionary history of the mtDNA 9-bp deletion in Chinese populations and its relevance to the peopling of east and southeast Asia.

Published in:

Human Genetics, 2000, v. 107, n. 5, p. 504, doi. 10.1007/s004390000403

By:

Yong-Gang Yao;
Watkins, W. S.;
Ya-Ping Zhang

Publication type:

Article

Real-time quantitative polymerase chain reaction: A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies

Published in:

Human Genetics, 2000, v. 107, n. 5, p. 494, doi. 10.1007/s004390000399

By:

Aarskog, Nina K.;
Vedeler, Christian A.

Publication type:

Article

Interchromosomal insertions: Identification of five cases and a review.

Published in:

Human Genetics, 2000, v. 107, n. 5, p. 415, doi. 10.1007/s004390000398

By:

Van Hemel, J. O.;
Eussen, H. J.

Publication type:

Article

Human variant glucose-6-phosphate transporter is active in microsomal transport.

Published in:

Human Genetics, 2000, v. 107, n. 5, p. 526, doi. 10.1007/s004390000404

By:

Baochuan Lin;
Chi-Jiunn Pan;
Janice Chou

Publication type:

Article

Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen.

Published in:

Human Genetics, 2000, v. 107, n. 5, p. 499, doi. 10.1007/s004390000402

By:

Tyson, Jessica;
Tranebjærg, Lisbeth;
McEntagart, Meriel;
Larsen, Lars A.;
Christiansen, Michael;
Whiteford, Margo L.;
Bathen, Jørn;
Aslaksen, Bjørn;
Sørland, Svein Jan;
Lund, Ole;
Pembrey, Marcus E.;
Malcolm, Sue;
Bitner-Glindzicz, Maria

Publication type:

Article

Complex adaptive systems and human health: the influence of common genotypes of the apolipoprotein E (ApoE) gene polymorphism and age on the relational order within a field of lipid metabolism traits.

Published in:

Human Genetics, 2000, v. 107, n. 5, p. 466, doi. 10.1007/s004390000394

By:

Zerba, Kim E.;
Ferrell, Robert E.;
Sing, Charles F.

Publication type:

Article

Heterotrisomy, a significant contributing factor to ventricular septal defect associated with Down syndrome?

Published in:

Human Genetics, 2000, v. 107, n. 5, p. 476, doi. 10.1007/s004390000395

By:

Baptista, Melisa J.;
Fairbrother, Una L.;
Howard, Catherine M.;
Farrer, Matthew J.;
Davies, Gail E.;
Trikka, Dimitra;
Maratou, Klio;
Redington, Andrew;
Greve, Gottfried;
Njølstad, Pål;
Kessling, Anna M.

Publication type:

Article

Clinical and molecular studies in 15 females with ring X chromosomes: implications for r(X) formation and mental development.

Published in:

Human Genetics, 2000, v. 107, n. 5, p. 433, doi. 10.1007/s004390000377

By:

Matsuo, Mari;
Muroya, Koji;
Adachi, Masanori;
Tachibana, Katsuhiko;
Asakura, Yumi;
Nakagomi, Yoshiko;
Hanaki, Keiichi;
Yokoya, Susumu;
Yoshizawa, Atsuko;
Igarashi, Yutaka;
Hanew, Kunihiko;
Matsuo, Nobutake;
Ogata, Tsutomu

Publication type:

Article