Works matching IS 03406717 AND DT 2001 AND VI 108 AND IP 5

Results: 12

Evidence for a prostate cancer linkage to chromosome 20 in 159 hereditary prostate cancer families.

Published in:

Human Genetics, 2001, v. 108, n. 5, p. 430, doi. 10.1007/s004390100513

By:

Zheng, Siqun L.;
Jianfeng Xu;
Isaacs, Sarah D.;
Wiley, Kathy;
Bao-li Chang;
Bleecker, Eugene R.;
Walsh, Patrick C.;
Trent, Jeffrey M.;
Meyers, Deborah A.;
Isaacs, William B.

Publication type:

Article

DHPLC-based germline mutation screening in the analysis of the VHL tumor suppressor gene: usefulness and limitations.

Published in:

Human Genetics, 2001, v. 108, n. 5, p. 376, doi. 10.1007/s004390100500

By:

Klein, Bettina;
Weirich, Gregor;
Brauch, Hiltrud

Publication type:

Article

Topoisomerase-I- and Alu-mediated genomic deletions of the APC gene in familial adenomatous polyposis.

Published in:

Human Genetics, 2001, v. 108, n. 5, p. 436, doi. 10.1007/s004390100492

By:

Xia Cao;
Kong Weng Eu;
Seow-Choen, Francis;
Yi Zhao;
Peh Yean Cheah

Publication type:

Article

Cloning and characterization of the human GFRA2 locus and investigation of the gene in Hirschsprung disease.

Published in:

Human Genetics, 2001, v. 108, n. 5, p. 409, doi. 10.1007/s004390100506

By:

Vanhorne, Judith B.;
Gimm, Oliver;
Myers, Shirley M.;
Kaushik, Aneel;
von Deimling, Andreas;
Eng, Charis;
Mulligan, Lois M.

Publication type:

Article

Molecular and functional characterisation of mild MCAD deficiency.

Published in:

Human Genetics, 2001, v. 108, n. 5, p. 404, doi. 10.1007/s004390100501

By:

Zschocke, Johannes;
Schulze, Andreas;
Lindner, Martin;
Fiesel, Sonja;
Olgemöller, Katharina;
Hoffmann, Georg F.;
Penzien, Johannes;
Ruiter, Jos P. N.;
Wanders, Ronald J. A.;
Mayatepek, Ertan

Publication type:

Article

Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations.

Published in:

Human Genetics, 2001, v. 108, n. 5, p. 359, doi. 10.1007/s004390100489

By:

Erlandson, Anna;
Bjursell, Cecilia;
Stibler, Helena;
Kristiansson, Bengt;
Wahlström, Jan;
Martinsson, Tommy

Publication type:

Article

Delineation of the critical interval for the familial exudative vitreoretinopathy gene by linkage and haplotype analysis.

Published in:

Human Genetics, 2001, v. 108, n. 5, p. 368, doi. 10.1007/s004390100503

By:

Kondo, Hiroyuki;
Ohno, Ken;
Tahira, Tomoko;
Hayashi, Hideyuki;
Oshima, Kenji;
Hayashi, Kenshi

Publication type:

Article

Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations.

Published in:

Human Genetics, 2001, v. 108, n. 5, p. 416, doi. 10.1007/s004390100514

By:

Serra, E.;
Ars, E.;
Ravella, A.;
Sánchez, A.;
Puig, S.;
Rosenbaum, T.;
Estivill, X.;
Lázaro, C.

Publication type:

Article

Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians.

Published in:

Human Genetics, 2001, v. 108, n. 5, p. 385, doi. 10.1007/s004390100507

By:

Tekin, Mustafa;
Akar, Nejat;
Cin, Şükrü;
Blanton, Susan H.;
Xia Juan Xia;
Xue Zhong Liu;
Nance, Walter E.;
Pandya, Arti

Publication type:

Article

Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM.

Published in:

Human Genetics, 2001, v. 108, n. 5, p. 398, doi. 10.1007/s004390100495

By:

Rickard, Sarah;
Parker, Michael;
van't Hoff, William;
Barnicoat, Angela;
Russell-Eggitt, Isabelle;
Winter, Robin M.;
Bitner-Glindzicz, Maria

Publication type:

Article

Mutation analysis of 4 candidate genes for hereditary neuralgic amyotrophy (HNA).

Published in:

Human Genetics, 2001, v. 108, n. 5, p. 390, doi. 10.1007/s004390100510

By:

Meuleman, J.;
Kuhlenbäumer, G.;
Audenaert, D.;
Hünermund, G.;
Hor, H.;
Young, P.;
Stögbauer, F.;
Ringelstein, E. B.;
Van Broeckhoven, C.;
De Jonghe, P.;
Timmerman, V.

Publication type:

Article

Refinement of the chromosome 5p locus for craniometaphyseal dysplasia.

Published in:

Human Genetics, 2001, v. 108, n. 5, p. 394, doi. 10.1007/s004390100515

By:

Chandler, D.;
Tinschert, S.;
Lohan, K.;
Harrop, K.;
Goldblatt, J.;
Nagy, M.;
Hummel, S.;
Braun, H.-S.;
Laing, N.;
Nürnberg, P.

Publication type:

Article