Works matching IS 10184813 AND DT 2000 AND VI 8 AND IP 7

Results: 14

Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 7, p. 557, doi. 10.1038/sj.ejhg.5200477

By:

Sistermans, Erik A;
de Coo, René FM;
van Beerendonk, Hetty M;
Poll-The, Bwee Tien;
Kleijer, Wim J;
van Oost, Bernard A

Publication type:

Article

Maternal and paternal lineages in Albania and the genetic structure of Indo-European populations.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 7, p. 480, doi. 10.1038/sj.ejhg.5200443

By:

Belledi, Michele;
Poloni, Estella S;
Casalotti, Rosa;
Conterio, Franco;
Mikerezi, Ilia;
Tagliavini, James;
Excoffier, Laurent

Publication type:

Article

Giant axonal neuropathy locus refinement to a < 590 kb critical interval.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 7, p. 527, doi. 10.1038/sj.ejhg.5200476

By:

Cavalier, Laurent;
BenHamida, Christiane;
Amouri, Rim;
Belal, Samir;
Bomont, Pascale;
Lagarde, Nadège;
Gressin, Laëtitia;
Callen, David;
Demir, Ercan;
Topaloglu, Haluk;
Landrieu, Pierre;
Ioos, Catherine;
Hamida, Mongi Ben;
Kœnig, Michel;
Hentati, Fayçal

Publication type:

Article

An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA).

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 7, p. 493, doi. 10.1038/sj.ejhg.5200479

By:

Helmken, C;
Wetter, A;
Rudnik-Schöneborn, S;
Liehr, T;
Zerres, K;
Wirth, B

Publication type:

Article

Loss of heterozygosity in renal and hepatic epithelial cystic cells from ADPKD1 patients.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 7, p. 487, doi. 10.1038/sj.ejhg.5200484

By:

Badenas, Celia;
Torra, Roser;
Pérez-Oller, Laureano;
Mallolas, Judith;
Talbot-Wright, Roberto;
Torregrosa, Vicenç;
Darnell, Alejandro

Publication type:

Article

An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12–q12.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 7, p. 535, doi. 10.1038/sj.ejhg.5200485

By:

Yamada, Koki;
Tomita, Hiro-aki;
Yoshiura, Koh-ichiro;
Kondo, Shinji;
Wakui, Keiko;
Fukushima, Yoshimitsu;
Ikegawa, Shiro;
Nakamura, Yusuke;
Amemiya, Tsugio;
Niikawa, Norio

Publication type:

Article

Extended structural variation of a pentanucleotide repeat in the GSTP1 gene: characterisation in a normal population and in thyroid and gastric tumours.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 7, p. 540, doi. 10.1038/sj.ejhg.5200486

By:

Alves, Cíntia;
Silva, Filipe;
Gusmão, Leonor;
Seruca, Raquel;
Soares, Paula;
Reis, Rui M;
Amorim, António

Publication type:

Article

Myotonic dystrophy (DM) protein kinase levels in congenital and adult DM patients.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 7, p. 507, doi. 10.1038/sj.ejhg.5200490

By:

Narang, Monica A;
Waring, James D;
Sabourin, Luc A;
Korneluk, Robert G

Publication type:

Article

Identification of novel USH2A mutations: implications for the structure of USH2A protein.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 7, p. 500, doi. 10.1038/sj.ejhg.5200491

By:

Dreyer, Bo;
Tranebjærg, Lisbeth;
Rosenberg, Thomas;
Weston, Michael D;
Kimberling, William J;
Nilssen, Øivind

Publication type:

Article

Pedigree tests of transmission disequilibrium.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 7, p. 545, doi. 10.1038/sj.ejhg.5200494

By:

Abecasis, Gonçalo R;
Cookson, William OC;
Cardon, Lon R

Publication type:

Article

Severe cognitive impairment in DMD: obvious clinical evidence for Dp71 isoform point mutations screening.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 7, p. 552, doi. 10.1038/sj.ejhg.5200488

By:

Moizard, Marie-Pierre;
Toutain, Annick;
Fournier, Delphine;
Berret, Françoise;
Raynaud, Martine;
Billard, Catherine;
Andres, Christian;
Moraine, Claude

Publication type:

Article

Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 7, p. 513, doi. 10.1038/sj.ejhg.5200496

By:

van den Bogaard, Ruud;
Fijen, Cees AP;
Schipper, Mariëtte GJ;
de Galan, Louis;
Kuijper, Ed J;
Mannens, Marcel MAM

Publication type:

Article

Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 7, p. 519, doi. 10.1038/sj.ejhg.5200498

By:

Wieczorek, Dagmar;
Krause, Mario;
Majewski, Frank;
Albrecht, Beate;
Horn, Denise;
Riess, Olaf;
Gillessen-Kaesbach, Gabriele

Publication type:

Article

Molecular basis of hereditary pancreatitis.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 7, p. 473, doi. 10.1038/sj.ejhg.5200492

By:

Chen, Jian-Min;
Ferec, Claude

Publication type:

Article