Works matching IS 10184813 AND DT 2001 AND VI 9 AND IP 8

Results: 15

Familial Mediterranean fever: prevalence, penetrance and genetic drift.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 8, p. 634, doi. 10.1038/sj.ejhg.5200672

By:

Gershoni-Baruch, Ruth;
Shinawi, Marwan;
Leah, Kasinetz;
Badarnah, Khader;
Brik, Riva

Publication type:

Article

A genome screen for multiple sclerosis in Sardinian multiplex families.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 8, p. 621, doi. 10.1038/sj.ejhg.5200680

By:

Coraddu, Francesca;
Sawcer, Stephen;
D'Alfonso, Sandra;
Lai, Marina;
Hensiek, Anke;
Solla, Elisabetta;
Broadley, Simon;
Mancosu, Cristina;
Pugliatti, Maura;
Marrosu, Maria Giovanna;
Compston, Alastair

Publication type:

Article

N219Y, a new frequent mutation among mut° forms of methylmalonic acidemia in Caucasian patients.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 8, p. 577, doi. 10.1038/sj.ejhg.5200675

By:

Acquaviva, Cecile;
Benoist, Jean-François;
Callebaut, Isabelle;
Guffon, Nathalie;
Ogier de Baulny, Hélène;
Touati, Guy;
Aydin, Ahmet;
Porquet, Dominique;
Elion, Jacques

Publication type:

Article

Spectrum of mutations and genotype–phenotype analysis in Currarino syndrome.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 8, p. 599

By:

Köchling, Joachim;
Karbasiyan, Mohsen;
Reis, André

Publication type:

Article

Incorporation of covariates in multipoint model-free linkage analysis of binary traits: how important are unaffecteds?

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 8, p. 613

By:

Alcaïs, Alexandre;
Abel, Laurent

Publication type:

Article

Partial tetrasomy 12pter-12p12.3 in a girl with Pallister-Killian syndrome: extraordinary finding of an analphoid, inverted duplicated marker.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 8, p. 572, doi. 10.1038/sj.ejhg.5200673

By:

Dufke, Andreas;
Walczak, Claudia;
Liehr, Thomas;
Starke, Heike;
Trifonov, Vladimir;
Rubtsov, Nikolai;
Schöning, Martin;
Enders, Herbert;
Eggermann, Thomas

Publication type:

Article

Haplotype analysis of the myotonic dystrophy type 1 (DM1) locus in Taiwan: implications for low prevalence and founder mutations of Taiwanese myotonic dystrophy type 1.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 8, p. 638, doi. 10.1038/sj.ejhg.5200684

By:

Pan, Huichin;
Lin, Her-Mau;
Ku, Wei-Yao;
Li, Tung-Cheng;
Li, Shuan-Yow;
Lin, Chyi-Chyang;
Hsiao, Kuang-Ming

Publication type:

Article

TP63 gene mutation in ADULT syndrome.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 8, p. 642, doi. 10.1038/sj.ejhg.5200676

By:

Amiel, Jeanne;
Bougeard, Gaëlle;
Francannet, Christine;
Raclin, Valérie;
Munnich, Arnold;
Lyonnet, Stanislas;
Frebourg, Thierry

Publication type:

Article

Short tandem repeat (STR) haplotypes in HLA: an integrated 50-kb STR/linkage disequilibrium/gene map between the RING3 and HLA-B genes and identification of STR haplotype diversification in the class III region.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 8, p. 590, doi. 10.1038/sj.ejhg.5200688

By:

Vorechovsky, Igor;
Kralovicova, Jana;
Laycock, Michael D;
Webster, A David B;
Marsh, Steven G E;
Madrigal, Alejandro;
Hammarström, Lennart

Publication type:

Article

A 31 bp VNTR in the cystathionine β-synthase (CBS) gene is associated with reduced CBS activity and elevated post-load homocysteine levels.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 8, p. 583, doi. 10.1038/sj.ejhg.5200679

By:

Lievers, Karin J A;
Kluijtmans, Leo A J;
Heil, Sandra G;
Boers, Godfried H J;
Verhoef, Petra;
van Oppenraay-Emmerzaal, Dinny;
den Heijer, Martin;
Trijbels, Frans J M;
Blom, Henk J

Publication type:

Article

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 8, p. 561, doi. 10.1038/sj.ejhg.5200689

By:

Gerber, Sylvie;
Perrault, Isabelle;
Hanein, Sylvain;
Barbet, Fabienne;
Ducroq, Dominique;
Ghazi, Imad;
Martin-Coignard, Dominique;
Leowski, Corinne;
Homfray, Tessa;
Dufier, Jean-Louis;
Munnich, Arnold;
Kaplan, Josseline;
Rozet, Jean-Michel

Publication type:

Article

A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 8, p. 646, doi. 10.1038/sj.ejhg.5200686

By:

Ismailov, Shoukhrat M;
Fedotov, Valeriy P;
Dadali, Elena L;
Polyakov, Alexander V;
Van Broeckhoven, Christine;
Ivanov, Vladimir I;
De Jonghe, Peter;
Timmerman, Vincent;
Evgrafov, Oleg V

Publication type:

Article

Replication and extension studies of inflammatory bowel disease susceptibility regions confirm linkage to chromosome 6p (IBD3).

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 8, p. 627, doi. 10.1038/sj.ejhg.5200687

By:

Dechairo, Bryan;
Dimon, Claire;
van Heel, David;
Mackay, Ian;
Edwards, Mark;
Scambler, Peter;
Jewell, Derek;
Cardon, Lon;
Lench, Nicholas;
Carey, Alisoun

Publication type:

Article

Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 8, p. 651, doi. 10.1038/sj.ejhg.5200691

By:

Houten, Sander M;
Koster, Janet;
Romeijn, Gerrit-Jan;
Frenkel, Joost;
Di Rocco, Maja;
Caruso, Ubaldo;
Landrieu, Pierre;
Kelley, Richard I;
Kuis, Wietse;
Poll-The, Bwee Tien;
Gibson, K Michael;
Wanders, Ronald J A;
Waterham, Hans R

Publication type:

Article

Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 8, p. 606, doi. 10.1038/sj.ejhg.5200690

By:

Mortier, Geert R;
Chapman, Kathryn;
Leroy, Jules L;
Briggs, Michael D

Publication type:

Article