Works matching IS 03406717 AND DT 2000 AND VI 106 AND IP 4

Results: 12

Structure and mutation analysis of the gene encoding DNA fragmentation factor 40 (caspase-activated nuclease), a candidate neuroblastoma tumour suppressor gene.

Published in:

Human Genetics, 2000, v. 106, n. 4, p. 406, doi. 10.1007/s004390000257

By:

Judson, Hannah;
van Roy, Nadine;
Strain, Lisa;
Vandesompele, Jo;
Van Gele, Mireille;
Speleman, Frank;
Bonthron, David T.

Publication type:

Article

Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH.

Published in:

Human Genetics, 2000, v. 106, n. 4, p. 392, doi. 10.1007/s004390000268

By:

Bezrookove, Vladimir;
Hansson, Kerstin;
van der Burg, Marja;
van der Smagt, Jasper J.;
Hilhorst-Hofstee, Yvonne;
Wiegant, Joop;
Beverstock, Geoff C.;
Raap, Anton K.;
Tanke, Hans;
Breuning, Martijn H.;
Rosenberg, Carla

Publication type:

Article

Age of the intronic GAA triplet repeat expansion mutation in Friedreich ataxia.

Published in:

Human Genetics, 2000, v. 106, n. 4, p. 455, doi. 10.1007/s004390000261

By:

Colombo, Roberto;
Carobene, Anna

Publication type:

Article

Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene.

Published in:

Human Genetics, 2000, v. 106, n. 4, p. 425, doi. 10.1007/s004390000265

By:

Hes, Frederik;
Zewald, Richard;
Peeters, Ton;
Sijmons, Rolf;
Links, Thera;
Verheij, Joke;
Matthijs, Gert;
Legius, Eric;
Mortier, Geert;
van der Torren, Kors;
Rosman, Malou;
Lips, Cornelis;
Pearson, Peter;
van der Luijt, Rob

Publication type:

Article

Multiple origins of Tibetan Y chromosomes.

Published in:

Human Genetics, 2000, v. 106, n. 4, p. 453, doi. 10.1007/s004390000259

By:

Yaping Qian;
Binzhi Qian;
Bing Su;
Jiankun Yu;
Yuehai Ke;
Zhengtao Chu;
Lei Shi;
Daru Lu;
Jiayou Chu;
Li Jin

Publication type:

Article

Lipoprotein lipase gene variation is associated with adipose tissue lipoprotein lipase activity, and lipoprotein lipid and glucose concentrations in overweight postmenopausal women.

Published in:

Human Genetics, 2000, v. 106, n. 4, p. 420, doi. 10.1007/s004390000292

By:

Nicklas, Barbara J.;
Ferrell, Robert E.;
Rogus, Ellen M.;
Berman, Dora M.;
Ryan, Alice S.;
Dennis, Karen E.;
Goldberg, Andrew P.

Publication type:

Article

Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases.

Published in:

Human Genetics, 2000, v. 106, n. 4, p. 432, doi. 10.1007/s004390000266

By:

Hargrave, Murray;
James, Kristy;
Nield, Kerry;
Toomes, Carmel;
Georgas, Kylie;
Sullivan, Timothy;
Verzijl, Harriet T. F. M.;
Oley, Christine A.;
Little, Melissa;
De Jonghe, Peter;
Kwon, Jennifer M.;
Kremer, Hannie;
Dixon, Michael J.;
Timmerman, Vincent;
Yamada, Toshiya;
Koopman, Peter

Publication type:

Article

Association of butyrylcholinesterase K variant with cholinesterase-positive neuritic plaques in the temporal cortex in late-onset Alzheimer's disease.

Published in:

Human Genetics, 2000, v. 106, n. 4, p. 447, doi. 10.1007/s004390000277

By:

Lehmann, Donald J.;
Nagy, Zsuzsanna;
Litchfield, Suzanne;
Cortina Borja, Mario;
Smith, A. David

Publication type:

Article

Association studies of 33 single nucleotide polymorphisms (SNPs) in 29 candidate genes for bronchial asthma: positive association of a T924C polymorphism in the thromboxane A2 receptor gene.

Published in:

Human Genetics, 2000, v. 106, n. 4, p. 440, doi. 10.1007/s004390000267

By:

Unoki, Motoko;
Furuta, Sachiyo;
Onouchi, Yoshihiro;
Watanabe, Otsu;
Doi, Satoru;
Fujiwara, Hiroshi;
Miyatake, Akihiko;
Fujita, Kimie;
Tamari, Mayumi;
Nakamura, Yusuke

Publication type:

Article

CYP21 mutations in Brazilian patients with 21-hydroxylase deficiency.

Published in:

Human Genetics, 2000, v. 106, n. 4, p. 414, doi. 10.1007/s004390000276

By:

Witchel, Selma F.;
Smith, Rhonda;
Crivellaro, Carlo Enrico;
Manna, Thais Della;
Dichtchekenian, Vaê;
Setian, Nuvarte;
Damiani, Durval

Publication type:

Article

High frequency hearing loss correlated with mutations in the GJB2 gene.

Published in:

Human Genetics, 2000, v. 106, n. 4, p. 399, doi. 10.1007/s004390000273

By:

Wilcox, Stephen A.;
Saunders, Kerryn;
Osborn, Amelia H.;
Arnold, Angela;
Wunderlich, Julia;
Kelly, Therese;
Collins, Veronica;
Wilcox, Leah J.;
Gardner, R. J. McKinlay;
Kamarinos, Maria;
Cone-Wesson, Barbara;
Williamson, Robert;
Dahl, Hans-Henrik M.

Publication type:

Article

Characterization of the human complex I NDUFB7 and 17.2-kDa cDNAs and mutational analysis of 19 genes of the HP fraction in complex I-deficient-patients.

Published in:

Human Genetics, 2000, v. 106, n. 4, p. 385, doi. 10.1007/s004390000278

By:

Triepels, Ralf;
Smeitink, Jan;
Loeffen, Jan;
Smeets, Roel;
Trijbels, Frans;
van den Heuvel, Lambert

Publication type:

Article