Works matching IS 10597794 AND DT 2002 AND VI 20 AND IP 5

Results: 23

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

Published in:

Human Mutation, 2002, v. 20, n. 5, p. 405, doi. 10.1002/humu.9072

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2002, v. 20, n. 5, p. 358, doi. 10.1002/humu.10132

By:

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

Publication type:

Article

The human SHOX mutation database.

Published in:

Human Mutation, 2002, v. 20, n. 5, p. 338, doi. 10.1002/humu.10125

By:

Niesler, Beate;
Fischer, Christine;
Rappold, Gudrun A.

Publication type:

Article

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

Published in:

Human Mutation, 2002, v. 20, n. 5, p. 407, doi. 10.1002/humu.9076

By:

Climent, Consuelo;
Rubio, Vicente

Publication type:

Article

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

Published in:

Human Mutation, 2002, v. 20, n. 5, p. 382, doi. 10.1002/humu.10131

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2002, v. 20, n. 5, p. 402, doi. 10.1002/humu.10135

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2002, v. 20, n. 5, p. 342, doi. 10.1002/humu.10128

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2002, v. 20, n. 5, p. 404, doi. 10.1002/humu.9071

By:

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

Publication type:

Article

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.

Published in:

Human Mutation, 2002, v. 20, n. 5, p. 406, doi. 10.1002/humu.9075

By:

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

Publication type:

Article

A collection of 33 novel human mtDNA homoplasmic variants.

Published in:

Human Mutation, 2002, v. 20, n. 5, p. 409, doi. 10.1002/humu.9079

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2002, v. 20, n. 5, p. 403, doi. 10.1002/humu.10152

By:

Dunnen, Johan T. den;
Antonarakis, Stylianos E.

Publication type:

Article

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

Published in:

Human Mutation, 2002, v. 20, n. 5, p. 408, doi. 10.1002/humu.9078

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2002, v. 20, n. 5, p. 392, doi. 10.1002/humu.10134

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2002, v. 20, n. 5, p. 404, doi. 10.1002/humu.9070

By:

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

Publication type:

Article

Different molecular mechanisms underlie genomic deletions in the MLH1 Gene.

Published in:

Human Mutation, 2002, v. 20, n. 5, p. 368, doi. 10.1002/humu.10138

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2002, v. 20, n. 5, p. 406, doi. 10.1002/humu.9074

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2002, v. 20, n. 5, p. 352, doi. 10.1002/humu.10123

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2002, v. 20, n. 5, p. 375, doi. 10.1002/humu.10140

By:

Shoji, Yutaka;
Noguchi, Atsuko;
Shoji, Yasuko;
Matsumori, Mika;
Takasago, Yuhei;
Takayanagi, Masaki;
Yoshida, Yoshihiro;
Ihara, Kenji;
Hara, Toshiro;
Yamaguchi, Shuichi;
Yoshino, Makoto;
Kaji, Masayuki;
Yamamoto, Shigenori;
Nakai, Akio;
Koizumi, Akio;
Hokezu, Youichi;
Nagamatsu, Keiji;
Mikami, Hitoshi;
Kitajima, Isao;
Takada, Goro

Publication type:

Article

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

Published in:

Human Mutation, 2002, v. 20, n. 5, p. 399, doi. 10.1002/humu.10122

By:

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

Publication type:

Article

The detection of large deletions or duplications in genomic DNA.

Published in:

Human Mutation, 2002, v. 20, n. 5, p. 325, doi. 10.1002/humu.10133

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2002, v. 20, n. 5, p. 409, doi. 10.1002/humu.9080

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2002, v. 20, n. 5, p. 405, doi. 10.1002/humu.9073

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2002, v. 20, n. 5, p. 408, doi. 10.1002/humu.9077

By:

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

Publication type:

Article

Works matching IS 10597794 AND DT 2002 AND VI 20 AND IP 5

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

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

The human SHOX mutation database.

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

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

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

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

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

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.

A collection of 33 novel human mtDNA homoplasmic variants.

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

Novel O<sup>6</sup>-methylguanine-DNA methyltransferase SNPs: A frequency comparison of patients with familial melanoma and healthy individuals in Sweden.

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

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

Different molecular mechanisms underlie genomic deletions in the MLH1 Gene.

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

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

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

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

The detection of large deletions or duplications in genomic DNA.

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

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

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