Volume 20; Issue 5

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Human Mutation
Volume 20; Issue 5

Human Mutation

Volume 20; Issue 5

1

Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome

Philippe Labrune, Anne Myara, Jacqueline Chalas, Béatrice Le Bihan, Liliane Capel, Jeanne Francoual

Journal:

Year:

2002

Language:

english

File:

PDF, 132 KB

english, 2002

2

A low frequency of non-founder BRCA1 mutations in Ashkenazi Jewish breast–ovarian cancer families

Catherine M. Phelan, Elaine Kwan, Elaine Jack, Song Li, Cindy Morgan, Jennifer Aubé, Danielle Hanna, Steven A. Narod

Journal:

Year:

2002

Language:

english

File:

PDF, 122 KB

english, 2002

3

The human SHOX mutation database

Beate Niesler, Christine Fischer, Gudrun A. Rappold

Journal:

Year:

2002

Language:

english

File:

PDF, 342 KB

english, 2002

4

Novel PEX1 mutations and genotype–phenotype correlations in Australasian peroxisome biogenesis disorder patients

Megan A. Maxwell, Tamara Allen, Pamela B. Solly, Terje Svingen, Barbara C. Paton, Denis I. Crane

Journal:

Year:

2002

Language:

english

File:

PDF, 183 KB

english, 2002

5

DHPLC analysis of potassium ion channel genes in congenital long QT syndrome

Roselie Jongbloed, Carlo Marcelis, Crool Velter, Pieter Doevendans, Joep Geraedts, Hubert Smeets

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Year:

2002

Language:

english

File:

PDF, 175 KB

english, 2002

6

Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features

Maria De Angioletti, Giuseppina Lacerra, Carlo Gaudiano, Gabriella Mastrolonardo, Leonilde Pagano, Lucia Mastrullo, Santa Masciandaro, Clementina Carestia

Journal:

Year:

2002

Language:

english

File:

PDF, 302 KB

english, 2002

7

The detection of large deletions or duplications in genomic DNA

J.A.L. Armour, D.E. Barton, D.J. Cockburn, G.R. Taylor

Journal:

Year:

2002

Language:

english

File:

PDF, 342 KB

english, 2002

8

Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations

Chikahiko Numakura, Changqing Lin, Tohru Ikegami, Per Guldberg, Kiyoshi Hayasaka

Journal:

Year:

2002

Language:

english

File:

PDF, 169 KB

english, 2002

9

Novel mutations of APOB cause apoB truncations undetectable in plasma and familial hypobetalipoproteinemia

Pin Yue, Bo Yuan, Daniela S. Gerhard, Rosalind J. Neuman, William L. Isley, William S. Harris, Gustav Schonfeld

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Year:

2002

Language:

english

File:

PDF, 50 KB

english, 2002

10

Different molecular mechanisms underlie genomic deletions in the MLH1 Gene

Alessandra Viel, Fiorella Petronzelli, Lara Della Puppa, Emanuela Lucci-Cordisco, Mara Fornasarig, Salvatore Pucciarelli, Valentina Rovella, Michele Quaia, Maurizio Ponz de Leon, Mauro Boiocchi, Mauri

Journal:

Year:

2002

Language:

english

File:

PDF, 188 KB

english, 2002

11

Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance

Yutaka Shoji, Atsuko Noguchi, Yasuko Shoji, Mika Matsumori, Yuhei Takasago, Masaki Takayanagi, Yoshihiro Yoshida, Kenji Ihara, Toshiro Hara, Shuichi Yamaguchi, Makoto Yoshino, Masayuki Kaji, Shigenori

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Year:

2002

Language:

english

File:

PDF, 154 KB

english, 2002

12

Corrigendum: Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

Johan T. den Dunnen, Stylianos E. Antonarakis

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Year:

2002

File:

PDF, 46 KB

2002

13

The LDL receptor-related protein (LRP1/A2MR) and coronary atherosclerosis – novel genomic variants and functional consequences

Susanne Schulz, Undraga Schagdarsurengin, Petra Greiser, Gerd Birkenmeier, Ursula Müller-Werdan, Monika Hagemann, Dagmar Riemann, Karl Werdan, Christiane Gläser

Journal:

Year:

2002

Language:

english

File:

PDF, 57 KB

english, 2002

14

Clustering of variations and haplotype analysis in the highly variable region of exon 11 of BRCA1 in Chinese women with sporadic breast cancer

Yunqing Li, Sizhong Zhang, Cuiying Xiao, Zhiguang Su, YangBing Zhao, Wei Chen, Ge Zhang

Journal:

Year:

2002

Language:

english

File:

PDF, 29 KB

english, 2002

15

Ten novel ORF15 mutations confirm mutational hot spot in the RPGR gene in European patients with X-linked retinitis pigmentosa

Carsten M. Pusch, Martina Broghammer, Bernhard Jurklies, Dorothea Besch, Felix K. Jacobi

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Year:

2002

Language:

english

File:

PDF, 96 KB

english, 2002

16

Detection of C1 inhibitor (SERPING1/C1NH) mutations in exon 8 in patients with hereditary angioedema: evidence for 10 novel mutations

Alvaro Blanch, Olga Roche, Eduardo López-Granados, Gumersindo Fontán, Margarita López-Trascasa

Journal:

Year:

2002

Language:

english

File:

PDF, 35 KB

english, 2002

17

Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations

Heidi L. Peters, Mikhael Nefedov, Lai Wah Lee, Jose E. Abdenur, Nestor A. Chamoles, Stephen G. Kahler, Panayiotis A. Ioannou

Journal:

Year:

2002

Language:

english

File:

PDF, 31 KB

english, 2002

18

Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations

Kathrin Rommel, Matthias Karck, Axel Haverich, Jörg Schmidtke, Mine Arslan-Kirchner

Journal:

Year:

2002

Language:

english

File:

PDF, 38 KB

english, 2002

19

H intragenic polymorphisms and haplotype analysis in the ornithine transcarbamylase (OTC) gene and their relevance for tracking the inheritance of OTC deficiency

Consuelo Climent, Vicente Rubio

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Year:

2002

Language:

english

File:

PDF, 30 KB

english, 2002

20

Loss of heterozygosity and mutations are the major mechanisms of RB1 gene inactivation in Chinese with sporadic retinoblastoma

Kwong Wai Choy, Chi Pui Pang, Christopher B.O. Yu, Hing Lok Wong, Joan S.K. Ng, Dorothy S.P. Fan, Kwok Wai Lo, Joshua T.Y. Chai, Jianhua Wang, Weiling Fu, Dennis S.C. Lam

Journal:

Year:

2002

Language:

english

File:

PDF, 80 KB

english, 2002

21

Novel O6-methylguanine-DNA methyltransferase SNPs: A frequency comparison of patients with familial melanoma and healthy individuals in Sweden

S. Egyházi, S. Ma, K. Smoczynski, J. Hansson, A. Platz, U. Ringborg

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Year:

2002

Language:

english

File:

PDF, 113 KB

english, 2002

22

A collection of 33 novel human mtDNA homoplasmic variants

Marco Crimi, Monica Sciacco, Sara Galbiati, Andreina Bordoni, Giulia Malferrari, Roberto Del Bo, Ida Biunno, Nereo Bresolin, Giacomo P. Comi

Journal:

Year:

2002

Language:

english

File:

PDF, 31 KB

english, 2002

23

Cyclooxygenase 1 (COX1) polymorphisms in African-American and caucasian populations

Cornelia M Ulrich, Jeannette Bigler, Justin Sibert, Elizabeth A Greene, Rachel Sparks, Christopher S Carlson, John D Potter

Journal:

Year:

2002

Language:

english

File:

PDF, 50 KB

english, 2002

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