Works matching IS 10597794 AND DT 2001 AND VI 18 AND IP 4

Results: 19

Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.

Published in:

Human Mutation, 2001, v. 18, n. 4, p. 264, doi. 10.1002/humu.1189

By:

Yogalingam, Gouri;
Hopwood, John J.

Publication type:

Article

Low density lipoprotein receptor ( LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.

Published in:

Human Mutation, 2001, v. 18, n. 4, p. 359, doi. 10.1002/humu.1205

By:

Wang, Jian;
Huff, Erin;
Janecka, Lenny;
Hegele, Robert A.

Publication type:

Article

Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta.

Published in:

Human Mutation, 2001, v. 18, n. 4, p. 319, doi. 10.1002/humu.1193

By:

Pace, James M.;
Atkinson, Mary;
Willing, Marcia C.;
Wallis, Gillian;
Byers, Peter H.

Publication type:

Article

10th International HUGO Mutation Database Initiative Meeting, 19 April 2001, Edinburgh, Scotland.

Published in:

Human Mutation, 2001, v. 18, n. 4, p. 352, doi. 10.1002/humu.1197

By:

Teebi, Saeed A.;
Cuticchia, A. Jamie;
Cotton, Richard G.H.

Publication type:

Article

Determination of Lewis FUT3 gene mutations by PCR using sequence-specific primers enables efficient genotyping of clinical samples.

Published in:

Human Mutation, 2001, v. 18, n. 4, p. 358, doi. 10.1002/humu.1204

By:

Grahn, Ammi;
Elmgren, Anders;
Åberg, Lena;
Svensson, Lola;
Jansson, Per-Anders;
Lönnroth, Peter;
Larson, Göran

Publication type:

Article

Congenital insensitivity to pain with anhidrosis (CIPA): Novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency.

Published in:

Human Mutation, 2001, v. 18, n. 4, p. 308, doi. 10.1002/humu.1192

By:

Indo, Yasuhiro;
Mardy, Sek;
Miura, Yuichi;
Moosa, Allie;
Ismail, Essam A.R.;
Toscano, Ennio;
Andria, Generoso;
Pavone, Vito;
Brown, Deborah L.;
Brooks, Alice;
Endo, Fumio;
Matsuda, Ichiro

Publication type:

Article

Analysis of a non-functional HNF-1α (TCF1) mutation in Japanese subjects with familial type 1 diabetes.

Published in:

Human Mutation, 2001, v. 18, n. 4, p. 345, doi. 10.1002/humu.1196

By:

Yoshiuchi, Issei;
Yamagata, Kazuya;
Yoshimoto, Masaaki;
Zhu, Qian;
Yang, Qin;
Nammo, Takao;
Uenaka, Rikako;
Kinoshita, Ei-ichi;
Hanafusa, Toshiaki;
Miyagawa, Jun-ichiro;
Matsuzawa, Yuji

Publication type:

Article

Genotype-phenotype comparison of the Swiss malignant hyperthermia population.

Published in:

Human Mutation, 2001, v. 18, n. 4, p. 357, doi. 10.1002/humu.1203

By:

Girard, Thierry;
Urwyler, Albert;
Censier, Kathrin;
Mueller, Clemens R.;
Zorzato, Francesco;
Treves, Susan

Publication type:

Article

Bruton tyrosine kinase gene mutations in Turkish patients with presumed X-linked agammaglobulinemia.

Published in:

Human Mutation, 2001, v. 18, n. 4, p. 356, doi. 10.1002/humu.1200

By:

Wang, Yue;
Kanegane, Hirokazu;
Sanal, Ozden;
Ersoy, Fügen;
Tezcan, Ilhan;
Futatani, Takeshi;
Tsukada, Satoshi;
Miyawaki, Toshio

Publication type:

Article

Improved detection of CFTR mutations in Southern California Hispanic CF patients.

Published in:

Human Mutation, 2001, v. 18, n. 4, p. 296, doi. 10.1002/humu.1191

By:

Wong, Lee-Jun C.;
Wang, Jianjun;
Zhang, Ying-Hua;
Hsu, Evelyn;
Heim, Ruth A.;
Bowman, C. Michael;
Woo, Marlyn S.

Publication type:

Article

Ovarian cancer BRCA1 mutation detection: Protein truncation test (PTT) outperforms single strand conformation polymorphism analysis (SSCP).

Published in:

Human Mutation, 2001, v. 18, n. 4, p. 337, doi. 10.1002/humu.1195

By:

Geisler, J.P.;
Hatterman-Zogg, M.A.;
Rathe, J.A.;
Lallas, T.A.;
Kirby, P.;
Buller, R.E.

Publication type:

Article

Oncogenic levels of mitogen-activated protein kinase (MAPK) signaling of the dinucleotide KRAS2 mutations G12F and GG12-13VC.

Published in:

Human Mutation, 2001, v. 18, n. 4, p. 357, doi. 10.1002/humu.1202

By:

Feldser, David M.;
Kern, Scott E.

Publication type:

Article

Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency.

Published in:

Human Mutation, 2001, v. 18, n. 4, p. 255, doi. 10.1002/humu.1188

By:

Notarangelo, Luigi D.;
Mella, Patrizia;
Jones, Alison;
de Saint Basile, Genevieve;
Savoldi, Gianfranco;
Cranston, Treena;
Vihinen, Mauno;
Schumacher, Richard Fabian

Publication type:

Article

Eleven novel JAK3 mutations in patients with severe combined immunodeficiency-including the first patients with mutations in the kinase domain.

Published in:

Human Mutation, 2001, v. 18, n. 4, p. 355, doi. 10.1002/humu.1199

By:

Mella, Patrizia;
Schumacher, Richard Fabian;
Cranston, Treena;
de Saint Basile, Genevieve;
Savoldi, Gianfranco;
Notarangelo, Luigi D.

Publication type:

Article

Fine mapping and single nucleotide polymorphism association results of candidate genes for asthma and related phenotypes.

Published in:

Human Mutation, 2001, v. 18, n. 4, p. 327, doi. 10.1002/humu.1194

By:

Immervoll, Thomas;
Loesgen, Sabine;
Dütsch, Gabriele;
Gohlke, Henning;
Herbon, Nicole;
Klugbauer, Sabine;
Dempfle, Astrid;
Bickeböller, Heike;
Becker-Follmann, Johannes;
Rüschendorf, Franz;
Saar, Kathrin;
Reis, Andre;
Wichmann, H.-Erich;
Wjst, Matthias

Publication type:

Article

Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase.

Published in:

Human Mutation, 2001, v. 18, n. 4, p. 282, doi. 10.1002/humu.1190

By:

Litjens, Tom;
Hopwood, John J.

Publication type:

Article

Mutations in ATP-cassette binding proteins G5 ( ABCG5) and G8 ( ABCG8) causing sitosterolemia.

Published in:

Human Mutation, 2001, v. 18, n. 4, p. 359, doi. 10.1002/humu.1206

By:

Hubacek, Jaroslav A.;
Berge, Knut E.;
Cohen, Jonathan C.;
Hobbs, Helen H.

Publication type:

Article

Studies of the variability of the hepatocyte nuclear factor-1β (HNF-1β / TCF2) and the dimerization cofactor of HNF-1 (DcoH / PCBD) genes in relation to type 2 diabetes mellitus and β-cell function.

Published in:

Human Mutation, 2001, v. 18, n. 4, p. 356, doi. 10.1002/humu.1201

By:

Ek, Jakob;
Grarup, Niels;
Urhammer, Søren A.;
Gæde, Peter H.;
Drivsholm, Thomas;
Borch-Johnsen, Knut;
Hansen, Torben;
Pedersen, Oluf

Publication type:

Article

Mutation analysis of the adenomatous polyposis coli ( APC) gene in northwest Spanish patients with familial adenomatous polyposis (FAP) and sporadic colorectal cancer.

Published in:

Human Mutation, 2001, v. 18, n. 4, p. 355, doi. 10.1002/humu.1198

By:

Ruiz-Ponte, Clara;
Vega, Ana;
Carracedo, Angel;
Barros, Francisco

Publication type:

Article