Works matching IS 10597794 AND DT 2002 AND VI 19 AND IP 4

Results: 26

Determining sequence length or content in zero, one, and two dimensions.

Published in:

Human Mutation, 2002, v. 19, n. 4, p. 361, doi. 10.1002/humu.10087

By:

Perlin, Mark W.;
Szabady, Beata

Publication type:

Article

New developments in high-throughput resequencing and variation detection using high density microarrays.

Published in:

Human Mutation, 2002, v. 19, n. 4, p. 402, doi. 10.1002/humu.10075

By:

Warrington, Janet A.;
Shah, Nila A.;
Chen, Xiyin;
Janis, Michael;
Liu, Chunmei;
Kondapalli, Sangeetha;
Reyes, Vivian;
Savage, Michael P.;
Zhang, Zhaomei;
Watts, Richard;
DeGuzman, Maria;
Berno, Anthony;
Snyder, Jim;
Baid, Jyoti

Publication type:

Article

Myotonia caused by mutations in the muscle chloride channel gene CLCN1.

Published in:

Human Mutation, 2002, v. 19, n. 4, p. 423, doi. 10.1002/humu.10063

By:

Pusch, Michael

Publication type:

Article

A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families.

Published in:

Human Mutation, 2002, v. 19, n. 4, p. 458, doi. 10.1002/humu.9023

By:

López-Bigas, Núria;
Melchionda, Salvatore;
Gasparini, Paolo;
Borragán, Alfonso;
Arbonés, Maria Lourdes;
Estivill, Xavier

Publication type:

Article

A surface invasive cleavage assay for highly parallel SNP analysis.

Published in:

Human Mutation, 2002, v. 19, n. 4, p. 416, doi. 10.1002/humu.10071

By:

Lu, Manchun;
Shortreed, Michael R.;
Hall, Jeff G.;
Wang, Liman;
Berggren, Travis;
Stevens, Priscilla Wilkins;
Kelso, David M.;
Lyamichev, Victor;
Neri, Bruce;
Smith, Lloyd M.

Publication type:

Article

Four novel variants in MC1R in red-haired South African individuals of European descent: S83P, Y152X, A171D, P256S.

Published in:

Human Mutation, 2002, v. 19, n. 4, p. 461, doi. 10.1002/humu.9030

By:

John, Premila R.;
Ramsay, Michele

Publication type:

Article

An update on conformation sensitive gel electrophoresis.

Published in:

Human Mutation, 2002, v. 19, n. 4, p. 334, doi. 10.1002/humu.10059

By:

Ganguly, Arupa

Publication type:

Article

Analysis of SNPs and other genomic variations using gel-based chips.

Published in:

Human Mutation, 2002, v. 19, n. 4, p. 343, doi. 10.1002/humu.10077

By:

Kolchinsky, Alexander;
Mirzabekov, Andrei

Publication type:

Article

A BRCA1 mutation in Native North American families.

Published in:

Human Mutation, 2002, v. 19, n. 4, p. 460, doi. 10.1002/humu.9027

By:

Liede, Alexander;
Jack, Elaine;
Hegele, Robert A.;
Narod, Steven A.

Publication type:

Article

Mutation detection 2001: Novel technologies, developments and applications for analysis of the human genome.

Published in:

Human Mutation, 2002, v. 19, n. 4, p. 313, doi. 10.1002/humu.10088

By:

Cotton, Richard G.H.

Publication type:

Article

Correlation of MFOLD-predicted DNA secondary structures with separation patterns obtained by capillary electrophoresis single-strand conformation polymorphism (CE-SSCP) analysis.

Published in:

Human Mutation, 2002, v. 19, n. 4, p. 384, doi. 10.1002/humu.10086

By:

Glavač, Damjan;
Potočnik, Uroš;
Podpečnik, Darja;
Žižek, Teofil;
Smerkolj, Sava;
Ravnik-Glavač, Metka

Publication type:

Article

Missense mutations of human homeoboxes: A review.

Published in:

Human Mutation, 2002, v. 19, n. 4, p. 457, doi. 10.1002/humu.10070

By:

D'Elia, Angela V.;
Tell, Gianluca;
Paron, Igor;
Pellizzari, Lucia;
Lonigro, Renata;
Damante, Giuseppe

Publication type:

Article

SNP genotyping with fluorescence polarization detection.

Published in:

Human Mutation, 2002, v. 19, n. 4, p. 315, doi. 10.1002/humu.10058

By:

Kwok, Pui-Yan

Publication type:

Article

Sequence variations in the mu-opioid receptor gene (OPRM1) associated with human addiction to heroin.

Published in:

Human Mutation, 2002, v. 19, n. 4, p. 459, doi. 10.1002/humu.9026

By:

Shi, Jinxiu;
Hui, Lijian;
Xu, Yonghai;
Wang, Feng;
Huang, Wei;
Hu, Gengxi

Publication type:

Article

Molecular basis of familial hypercholesterolemia in Brazil: Identification of seven novel LDLR gene mutations.

Published in:

Human Mutation, 2002, v. 19, n. 4, p. 462, doi. 10.1002/humu.9032

By:

Salazar, Luis A.;
Hirata, Mario H.;
Cavalli, Selma A.;
Nakandakare, Edna R.;
Forti, Neusa;
Diament, Jaime;
Giannini, Sérgio D.;
Bertolami, Marcelo C.;
Hirata, Rosario D. C.

Publication type:

Article

Large-scale genotyping of single nucleotide polymorphisms by Pyrosequencing™ and validation against the 5′nuclease (Taqman<sup>®</sup>) assay.

Published in:

Human Mutation, 2002, v. 19, n. 4, p. 395, doi. 10.1002/humu.10062

By:

Nordfors, Louise;
Jansson, Mårten;
Sandberg, Gunnar;
Lavebratt, Catharina;
Sengul, Selim;
Schalling, Martin;
Arner, Peter

Publication type:

Article

An osteopontin (SPP1) polymorphism is associated with systemic lupus erythematosus.

Published in:

Human Mutation, 2002, v. 19, n. 4, p. 459, doi. 10.1002/humu.9025

By:

Forton, A.C.;
Petri, M.A.;
Goldman, D.;
Sullivan, K.E.

Publication type:

Article

Making ends meet in genetic analysis using padlock probes.

Published in:

Human Mutation, 2002, v. 19, n. 4, p. 410, doi. 10.1002/humu.10073

By:

Nilsson, Mats;
Banér, Johan;
Mendel-Hartvig, Maritha;
Dahl, Fredrik;
Antson, Dan-Oscar;
Gullberg, Mats;
Landegren, Ulf

Publication type:

Article

Germline BRCA1 promoter deletions in UK and Australian familial breast cancer patients: Identification of a novel deletion consistent with BRCA1:ψ BRCA1 recombination.

Published in:

Human Mutation, 2002, v. 19, n. 4, p. 435, doi. 10.1002/humu.10055

By:

Brown, Melissa A.;
Lo, Li-Jan;
Catteau, Aurélie;
Xu, Chun-Fang;
Lindeman, Geoffrey J.;
Hodgson, Shirley;
Solomon, Ellen

Publication type:

Article

Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema.

Published in:

Human Mutation, 2002, v. 19, n. 4, p. 461, doi. 10.1002/humu.9029

By:

Freiberger, Tomáš;
Kolárová, Lenka;
Mejstrík, Pavel;
Vyskocilová, Martina;
Kuklínek, Pavel;
Litzman, Jirí

Publication type:

Article

A review of the phenotypic variation due to the Denys-Drash syndrome-associated germline WT1 mutation R362X.

Published in:

Human Mutation, 2002, v. 19, n. 4, p. 462, doi. 10.1002/humu.9031

By:

Heathcott, Rosemary W.;
Morison, Ian M.;
Gubler, Marie Claire;
Corbett, Robin;
Reeve, Anthony E.

Publication type:

Article

The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.

Published in:

Human Mutation, 2002, v. 19, n. 4, p. 458, doi. 10.1002/humu.9024

By:

Orvisky, E.;
Park, J.K.;
Parker, A.;
Walker, J.M.;
Martin, B.M.;
Stubblefield, B.K.;
Uyama, E.;
Tayebi, N.;
Sidransky, E.

Publication type:

Article

Commercial molecular diagnostics in the U.S.: The Human Genome Project to the clinical laboratory.

Published in:

Human Mutation, 2002, v. 19, n. 4, p. 324, doi. 10.1002/humu.10061

By:

Amos, Jean;
Patnaik, Meeta

Publication type:

Article

Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene.

Published in:

Human Mutation, 2002, v. 19, n. 4, p. 443, doi. 10.1002/humu.10054

By:

Mátyás, Gábor;
De Paepe, Anne;
Halliday, Dorothy;
Boileau, Catherine;
Pals, Gerard;
Steinmann, Beat

Publication type:

Article

DHPLC screening of cystic fibrosis gene mutations.

Published in:

Human Mutation, 2002, v. 19, n. 4, p. 374, doi. 10.1002/humu.10065

By:

Ravnik-Glavač, Metka;
Atkinson, Andrew;
Glavač, Damjan;
Dean, Michael

Publication type:

Article

APC germline mutations identified in Czech patients with familial adenomatous polyposis.

Published in:

Human Mutation, 2002, v. 19, n. 4, p. 460, doi. 10.1002/humu.9028

By:

Kohoutová, Milada;
Štekrová, Jitka;
Jirásek, Václav;
Kapras, Jan

Publication type:

Article