Works matching IS 10597794 AND DT 2001 AND VI 17 AND IP 4

Results: 33

Fluorescent microsphere-based readout technology for multiplexed human single nucleotide polymorphism analysis and bacterial identification.

Published in:

Human Mutation, 2001, v. 17, n. 4, p. 305, doi. 10.1002/humu.28

By:

Ye, Fei;
Li, May-Sung;
Taylor, J. David;
Nguyen, Quan;
Colton, Heidi M.;
Casey, Warren M.;
Wagner, Michael;
Weiner, Michael P.;
Chen, Jingwen

Publication type:

Article

Identification of a novel polymorphism (IVS6-33C->G) and two novel rare variants (IVS6-42delT and IVS6-43delA) in RPE65 gene.

Published in:

Human Mutation, 2001, v. 17, n. 4, p. 353, doi. 10.1002/humu.39

By:

Marcos, Irene;
Ruiz, Agustín;
Borrego, Salud;
Antiñolo, Guillermo

Publication type:

Article

SNP 2000: Third International Meeting on Single Nucleotide Polymorphism and Complex Genome Analysis.

Published in:: Human Mutation, 2001, v. 17, n. 4, p. 327, doi. 10.1002/humu.30
Publication type:: Article

Identification of a novel de novo mutation (G373D) in the α-galactosidase A gene ( GLA) in a patient affected with Fabry disease.

Published in:

Human Mutation, 2001, v. 17, n. 4, p. 353, doi. 10.1002/humu.41

By:

Germain, Dominique P.;
Salard, Dominique;
Fellmann, Florence;
Azibi, Kemal;
Caillaud, Catherine;
Bernard, Marie-Charlotte;
Poenaru, Livia

Publication type:

Article

Maori origins, Y-chromosome haplotypes and implications for human history in the Pacific.

Published in:

Human Mutation, 2001, v. 17, n. 4, p. 271, doi. 10.1002/humu.23

By:

Underhill, Peter A.;
Passarino, Giuseppe;
Lin, Alice A.;
Marzuki, Sangkot;
Oefner, Peter J.;
Cavalli-Sforza, L. Luca;
Chambers, Geoffrey K.

Publication type:

Article

Human GABA<sub>B</sub> receptor 1 gene: Eight novel sequence variants.

Published in:

Human Mutation, 2001, v. 17, n. 4, p. 349, doi. 10.1002/humu.34

By:

Hisama, Fuki M.;
Gruen, Jeffrey R.;
Choi, Jenny;
Huseinovic, Masha;
Grigorenko, Elena L.;
Pauls, David;
Mattson, Richard H.;
Gelernter, Joel;
Wood, Frank B.;
Goei, Vita L.

Publication type:

Article

Population analysis of g.2488delG and three novel polymorphisms (g.4497G>A, g.4503G>A and g.2319G>A) in the plasminogen activator inhibitor 1 (PAI-1) gene.

Published in:

Human Mutation, 2001, v. 17, n. 4, p. 354, doi. 10.1002/humu.45

By:

Iwao, Mutsumi;
Morisaki, Hiroko;
Matsunaga, Hiromi;
Morisaki, Takayuki

Publication type:

Article

High-throughput multiplex SNP genotyping with MALDI-TOF mass spectrometry: Practice, problems and promise.

Published in:

Human Mutation, 2001, v. 17, n. 4, p. 296, doi. 10.1002/humu.27

By:

Bray, Molly S.;
Boerwinkle, Eric;
Doris, Peter A.

Publication type:

Article

The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia.

Published in:

Human Mutation, 2001, v. 17, n. 4, p. 349, doi. 10.1002/humu.33

By:

Pääkkönen, Kati;
Cambiaghi, Stefano;
Novelli, Giuseppe;
Ouzts, Lizbeth V.;
Penttinen, Maila;
Kere, Juha;
Srivastava, Anand K.

Publication type:

Article

Five novel natural allelic variants-951A>C, 1042G>A (D348N), 1156A>T (I386F), 1217G>A (C406Y) and 1291C>T (C431Y)-of the human CYP1A2 gene in a French Caucasian population.

Published in:

Human Mutation, 2001, v. 17, n. 4, p. 355, doi. 10.1002/humu.49

By:

Chevalier, D.;
Cauffiez, C.;
Allorge, D.;
Lo-Guidice, J.M.;
Lhermitte, M.;
Lafitte, J.J.;
Broly, F.

Publication type:

Article

Two polymorphic mutations (c2331A>C and IVS11+142insAGAAATTTTAAGTCTT) in the human peroxin 1 gene ( PEX1).

Published in:

Human Mutation, 2001, v. 17, n. 4, p. 353, doi. 10.1002/humu.40

By:

Preuss, N.;
Gärtner, J.

Publication type:

Article

A new polymorphism (c28C>A) of EXT2 gene identified in a Taiwan Chinese family.

Published in:

Human Mutation, 2001, v. 17, n. 4, p. 356, doi. 10.1002/humu.51

By:

Shi, Yi-Ru;
Wu, Jer-Yuarn;
Tsai, Fuu-Jen;
Lee, Cheng-Chun;
Tsai, Chang-Hai

Publication type:

Article

Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families.

Published in:

Human Mutation, 2001, v. 17, n. 4, p. 351, doi. 10.1002/humu.37

By:

Kamarinos, Maria;
McGill, Jim;
Lynch, Michael;
Dahl, Henrik

Publication type:

Article

Mutation analysis of the tyrosinase gene in oculocutaneous albinism.

Published in:

Human Mutation, 2001, v. 17, n. 4, p. 352, doi. 10.1002/humu.38

By:

Camand, Olivier;
Marchant, Dominique;
Boutboul, Sandrine;
Péquignot, Marie;
Odent, Sylvie;
Dollfus, Hélène;
Sutherland, Joanne;
Levin, Alex;
Menasche, Maurice;
Marsac, Cécile;
Dufier, Jean-Louis;
Heon, Elise;
Abitbol, Marc

Publication type:

Article

SNPs, protein structure, and disease.

Published in:

Human Mutation, 2001, v. 17, n. 4, p. 263, doi. 10.1002/humu.22

By:

Wang, Zhen;
Moult, John

Publication type:

Article

Haplotyping and estimation of haplotype frequencies for closely linked biallelic multilocus genetic phenotypes including nuclear family information.

Published in:

Human Mutation, 2001, v. 17, n. 4, p. 289, doi. 10.1002/humu.26

By:

Rohde, K.;
Fuerst, R.

Publication type:

Article

Detection of known and two novel (M331I and R464S) missense mutations in the human CYP1A1 gene in a French Caucasian population.

Published in:

Human Mutation, 2001, v. 17, n. 4, p. 355, doi. 10.1002/humu.48

By:

Chevalier, D.;
Allorge, D.;
Lo-Guidice, J.M.;
Cauffiez, C.;
Lhermitte, M.;
Lafitte, J.J.;
Broly, F.

Publication type:

Article

Two novel LDL receptor mutations in familial hypercholesterolemia: C122Y and E296X.

Published in:

Human Mutation, 2001, v. 17, n. 4, p. 354, doi. 10.1002/humu.44

By:

Genschel, Janine;
Thomas, Hans-Peter;
Kassner, Ursula;
Lochs, Herbert;
Steinhagen-Thiessen, Elisabeth;
Schmidt, Hartmut H-J.

Publication type:

Article

SNiPpets from the Third International Meeting on Single Nucleotide Polymorphism and Complex Genome Analysis, September 8-11, 2000, Taos, New Mexico, USA.

Published in:

Human Mutation, 2001, v. 17, n. 4, p. 241, doi. 10.1002/humu.19

By:

Brookes, Anthony J.;
Kwok, Pui-Yan;
White, P. Scott;
Oefner, Peter J.

Publication type:

Article

A novel nonsense mutation (Q1291X) in exon 20 of CFTR (ABCC7) gene.

Published in:

Human Mutation, 2001, v. 17, n. 4, p. 356, doi. 10.1002/humu.50

By:

Feldmann, D.;
Laroze, F.;
Troadec, C.;
Clement, A.;
Tournier, G.;
Couderc, R.

Publication type:

Article

A semi-automated system for analysis and storage of SNPs.

Published in:

Human Mutation, 2001, v. 17, n. 4, p. 243, doi. 10.1002/humu.20

By:

Lehnert, Valerie;
Holzwarth, James;
Ott, Michael;
Thompson, Annick;
Demmak, Sabine;
Foernzler, Dorothee

Publication type:

Article

Identification of novel WFS1 mutations in Italian children with Wolfram syndrome.

Published in:

Human Mutation, 2001, v. 17, n. 4, p. 348, doi. 10.1002/humu.32

By:

Tessa, A.;
Carbone, I.;
Matteoli, M.C.;
Bruno, C.;
Patrono, C.;
Patera, I.P.;
De Luca, F.;
Lorini, R.;
Santorelli, F.M.

Publication type:

Article

Allelic association with SNPs: Metrics, populations, and the linkage disequilibrium map.

Published in:

Human Mutation, 2001, v. 17, n. 4, p. 255, doi. 10.1002/humu.21

By:

Collins, A.;
Ennis, S.;
Taillon-Miller, P.;
Kwok, P-Y.;
Morton, N.E.

Publication type:

Article

Identification of a polymorphism (D168N) in the XRP2 gene in Chinese.

Published in:

Human Mutation, 2001, v. 17, n. 4, p. 354, doi. 10.1002/humu.43

By:

Lin, Wei-De;
Shi, Yi-Ru;
Tsai, Fuu-Jen;
Lee, Cheng-Chun;
Lin, Hui-Ju;
Wu, Jer-Yuarn

Publication type:

Article

A rare variant, I852M, of the RET proto-oncogene in a patient with medullary thyroid carcinoma at age 20 years.

Published in:

Human Mutation, 2001, v. 17, n. 4, p. 354, doi. 10.1002/humu.42

By:

Demeester, Rémy;
Parma, Jasmine;
Cochaux, Pascale;
Vassart, Gilbert;
Abramowicz, Marc J.

Publication type:

Article

Haplotyping of wild type and I278T alleles of the human cystathionine β-synthase gene based on a cluster of novel SNPs in IVS12.

Published in:

Human Mutation, 2001, v. 17, n. 4, p. 350, doi. 10.1002/humu.36

By:

Linnebank, Michael;
Homberger, Anja;
Kraus, Jan Peter;
Harms, Erik;
Kozich, Viktor;
Koch, Hans Georg

Publication type:

Article

Statistical multilocus methods for disequilibrium analysis in complex traits.

Published in:

Human Mutation, 2001, v. 17, n. 4, p. 285, doi. 10.1002/humu.25

By:

Ott, Jurg;
Hoh, Josephine

Publication type:

Article

A novel b(1-4)galactosyltransferase gene silent mutation (594C>T) associated with Hutchinson-Gilford progeria.

Published in:

Human Mutation, 2001, v. 17, n. 4, p. 355, doi. 10.1002/humu.47

By:

O'Brien, M.E.;
Weiss, A.S.

Publication type:

Article

Molecular basis of recessive congenital methemoglobinemia, types I and II: Exon skipping and three novel missense mutations in the NADH-cytochrome b5 reductase (diaphorase 1) gene.

Published in:

Human Mutation, 2001, v. 17, n. 4, p. 348, doi. 10.1002/humu.31

By:

Kugler, Wilfried;
Pekrun, Arnulf;
Laspe, Petra;
Erdlenbruch, Bernhard;
Lakomek, Max

Publication type:

Article

SNP 2000: Third International Meeting on Single Nucleotide Polymorphism and Complex Genome Analysis.

Published in:: Human Mutation, 2001, v. 17, n. 4, p. 317, doi. 10.1002/humu.29
Publication type:: Article

Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT).

Published in:

Human Mutation, 2001, v. 17, n. 4, p. 350, doi. 10.1002/humu.35

By:

Cappellini, M.D.;
Martinez di Montemuros, F.;
Tavazzi, D.;
Fargion, S.;
Pizzuti, A.;
Comino, A.;
Cainelli, T.;
Fiorelli, G.

Publication type:

Article

Characterization of publicly available SNPs in the Korean population.

Published in:

Human Mutation, 2001, v. 17, n. 4, p. 281, doi. 10.1002/humu.24

By:

Lee, Seong-Gene;
Hong, Sunghee;
Yoon, Yongsook;
Yang, Insil;
Song, Kyuyoung

Publication type:

Article

Two novel polymorphisms g.1715G>A (A496T) and g.1838G>A (3′UTR), and the g.1548G>A (E469K) variant in the intercellular adhesion molecule 1 (ICAM1) gene: Distribution in the Japanese and European American populations.

Published in:

Human Mutation, 2001, v. 17, n. 4, p. 355, doi. 10.1002/humu.46

By:

Iwao, Mutsumi;
Morisaki, Hiroko;
Matsunaga, Hiromi;
Morisaki, Takayuki

Publication type:

Article