Works matching IS 03406717 AND DT 2000 AND VI 106 AND IP 2

Results: 13

Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation.

Published in:

Human Genetics, 2000, v. 106, n. 2, p. 179, doi. 10.1007/s004390051026

By:

Saleem, Quasar;
Choudhry, Shweta;
Mukerji, Mitali;
Bashyam, Leena;
Padma, Madakasira V.;
Chakravarthy, Ambar;
Maheshwari, Mool Chand;
Jain, Satish;
Brahmachari, Samir K.

Publication type:

Article

Molecular analysis of the genotype-phenotype relationship in factor X deficiency.

Published in:

Human Genetics, 2000, v. 106, n. 2, p. 249, doi. 10.1007/s004390051035

By:

Millar, David S.;
Elliston, Lyn;
Deex, Pippa;
Krawczak, Michael;
Wacey, Adam I.;
Reynaud, Jacqueline;
Nieuwenhuis, H. Karel;
Bolton-Maggs, Paula;
Mannucci, Pier M.;
Reverter, Joan Carlos;
Cachia, Phillip;
Pasi, K. John;
Layton, D. Mark;
Cooper, David N.

Publication type:

Article

SEL1L, the human homolog of C. elegans sel-1: refined physical mapping, gene structure and identification of polymorphic markers.

Published in:

Human Genetics, 2000, v. 106, n. 2, p. 227, doi. 10.1007/s004390051032

By:

Biunno, Ida;
Bernard, Loris;
Dear, Paul;
Cattaneo, Monica;
Volorio, Sara;
Zannini, Laura;
Bankier, Alan;
Zollo, Massimo

Publication type:

Article

Genetics of molybdenum cofactor deficiency.

Published in:

Human Genetics, 2000, v. 106, n. 2, p. 157, doi. 10.1007/s004390051023

By:

Reiss, Jochen

Publication type:

Article

Chromosome analysis of blastomeres from human embryos by using comparative genomic hybridization.

Published in:

Human Genetics, 2000, v. 106, n. 2, p. 210, doi. 10.1007/s004390051030

By:

Voullaire, Lucille;
Slater, Howard;
Williamson, Robert;
Wilton, Leeanda

Publication type:

Article

Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients.

Published in:

Human Genetics, 2000, v. 106, n. 2, p. 194, doi. 10.1007/s004390051028

By:

Poyau, Alain;
Buchet, Karine;
Fouad Bouzidi, Mohamed;
Zabot, Marie-Thérèse;
Echenne, Bernard;
Jianbo Yao;
Shoubridge, Eric A.;
Godinot, Catherine

Publication type:

Article

Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance.

Published in:

Human Genetics, 2000, v. 106, n. 2, p. 244, doi. 10.1007/s004390051034

By:

Shroyer, Noah F.;
Lewis, Richard Alan;
Lupski, James R.

Publication type:

Article

Meiotic segregation analysis of a 14;21 Robertsonian translocation carrier by fluorescence in situ hybridization.

Published in:

Human Genetics, 2000, v. 106, n. 2, p. 188, doi. 10.1007/s004390051027

By:

Honda, Hiroshi;
Miharu, Norio;
Samura, Osamu;
Hu He;
Ohama, Koso

Publication type:

Article

Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome.

Published in:

Human Genetics, 2000, v. 106, n. 2, p. 236, doi. 10.1007/s004390051033

By:

Parfait, Béatrice;
Chretien, Dominique;
Rötig, Agnès;
Marsac, Cécile;
Munnich, Arnold;
Rustin, Peirre

Publication type:

Article

A simple and accurate method for determination of microsatellite total allele content differences between DNA pools.

Published in:

Human Genetics, 2000, v. 106, n. 2, p. 218, doi. 10.1007/s004390051031

By:

Collins, Heather E.;
Hongzhei Li;
Inda, Sven E.;
Anderson, Joshua;
Laiho, Kari;
Tuomilehto, Jaakko;
Seldin, Michael F.

Publication type:

Article

A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals.

Published in:

Human Genetics, 2000, v. 106, n. 2, p. 172, doi. 10.1007/s004390051025

By:

Bombieri, Cristina;
Giorgi, Silvia;
Carles, Soukeyna;
de Cid, Rafael;
Belpinati, Francesca;
Tandoi, Caterina;
Pallares-Ruiz, Nathalie;
Lazaro, Conxi;
Ciminelli, Bianca Maria;
Romey, Marie-Catherine;
Casals, Teresa;
Pompei, Fiorenza;
Gandini, Giorgio;
Claustres, Mireille;
Estivill, Xavier;
Pignatti, Pier Franco;
Modiano, Guido

Publication type:

Article

Gene organization and rearrangements at the human Rhesus blood group locus revealed by fiber-FISH analysis.

Published in:

Human Genetics, 2000, v. 106, n. 2, p. 164, doi. 10.1007/s004390051024

By:

Suto, Yumiko;
Ishikawa, Yoshihide;
Hyodo, Hironobu;
Uchikawa, Makoto;
Juji, Takeo

Publication type:

Article

Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA<sub>3</sub>).

Published in:

Human Genetics, 2000, v. 106, n. 2, p. 206, doi. 10.1007/s004390051029

By:

Rees, Mark I.;
Watts, Patrick;
Fenton, Iain;
Clarke, Angus;
Snell, Russell G.;
Owen, Michael J.;
Gray, Jonathan

Publication type:

Article