Volume 17; Issue 4

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Human Mutation
Volume 17; Issue 4

Human Mutation

Volume 17; Issue 4

1

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

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

Journal:

Year:

2001

Language:

english

File:

PDF, 78 KB

english, 2001

2

A semi-automated system for analysis and storage of SNPs

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

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Year:

2001

Language:

english

File:

PDF, 428 KB

english, 2001

3

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

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

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Year:

2001

Language:

english

File:

PDF, 264 KB

english, 2001

4

SNPs, protein structure, and disease

Zhen Wang, John Moult

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Year:

2001

Language:

english

File:

PDF, 357 KB

english, 2001

5

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

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

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Year:

2001

Language:

english

File:

PDF, 294 KB

english, 2001

6

Characterization of publicly available SNPs in the Korean population

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

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Year:

2001

Language:

english

File:

PDF, 139 KB

english, 2001

7

Statistical multilocus methods for disequilibrium analysis in complex traits

Jurg Ott, Josephine Hoh

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Year:

2001

Language:

english

File:

PDF, 134 KB

english, 2001

8

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

K. Rohde, R. Fuerst

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Year:

2001

Language:

english

File:

PDF, 178 KB

english, 2001

9

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

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

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Year:

2001

Language:

english

File:

PDF, 333 KB

english, 2001

10

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

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

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Year:

2001

Language:

english

File:

PDF, 644 KB

english, 2001

11

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

Journal:

Year:

2001

Language:

english

File:

PDF, 199 KB

english, 2001

12

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

Journal:

Year:

2001

Language:

english

File:

PDF, 343 KB

english, 2001

13

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

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

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Year:

2001

Language:

english

File:

PDF, 26 KB

english, 2001

14

Identification of novel WFS1 mutations in Italian children with Wolfram syndrome

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

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Year:

2001

Language:

english

File:

PDF, 55 KB

english, 2001

15

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

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

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Year:

2001

Language:

english

File:

PDF, 84 KB

english, 2001

16

Human GABAB receptor 1 gene: Eight novel sequence variants

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

Journal:

Year:

2001

Language:

english

File:

PDF, 29 KB

english, 2001

17

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

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

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Year:

2001

Language:

english

File:

PDF, 89 KB

english, 2001

18

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

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

Journal:

Year:

2001

Language:

english

File:

PDF, 22 KB

english, 2001

19

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

Maria Kamarinos, Jim McGill, Michael Lynch, Henrik Dahl

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Year:

2001

Language:

english

File:

PDF, 136 KB

english, 2001

20

Mutation analysis of the tyrosinase gene in oculocutaneous albinism

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

Journal:

Year:

2001

Language:

english

File:

PDF, 33 KB

english, 2001

21

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

Irene Marcos, Agustín Ruiz, Salud Borrego, Guillermo Antiñolo

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Year:

2001

Language:

english

File:

PDF, 19 KB

english, 2001

22

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

N. Preuss, J. Gärtner

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Year:

2001

Language:

english

File:

PDF, 18 KB

english, 2001

23

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

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

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Year:

2001

Language:

english

File:

PDF, 19 KB

english, 2001

24

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

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

Journal:

Year:

2001

Language:

english

File:

PDF, 15 KB

english, 2001

25

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

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

Journal:

Year:

2001

Language:

english

File:

PDF, 13 KB

english, 2001

26

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

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

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Year:

2001

Language:

english

File:

PDF, 14 KB

english, 2001

27

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

Mutsumi Iwao, Hiroko Morisaki, Hiromi Matsunaga, Takayuki Morisaki

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Year:

2001

Language:

english

File:

PDF, 17 KB

english, 2001

28

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

Mutsumi Iwao, Hiroko Morisaki, Hiromi Matsunaga, Takayuki Morisaki

Journal:

Year:

2001

Language:

english

File:

PDF, 16 KB

english, 2001

29

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

M.E. O’Brien, A.S. Weiss

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Year:

2001

Language:

english

File:

PDF, 19 KB

english, 2001

30

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

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

Journal:

Year:

2001

Language:

english

File:

PDF, 17 KB

english, 2001

31

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

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

Journal:

Year:

2001

Language:

english

File:

PDF, 18 KB

english, 2001

32

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

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

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Year:

2001

Language:

english

File:

PDF, 14 KB

english, 2001

33

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

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

Journal:

Year:

2001

Language:

english

File:

PDF, 15 KB

english, 2001