Works matching IS 10184813 AND DT 2000 AND VI 8 AND IP 11

Results: 12

Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 11, p. 869, doi. 10.1038/sj.ejhg.5200553

By:

Schwartz, C E;
Gillessen-Kaesbach, G;
May, M;
Cappa, M;
Gorski, J;
Steindl, K;
Neri, G

Publication type:

Article

PAX2 mutations in renal–coloboma syndrome: mutational hotspot and germline mosaicism.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 11, p. 820, doi. 10.1038/sj.ejhg.5200539

By:

Amiel, Jeanne;
Audollent, Sophie;
Joly, Dominique;
Dureau, Pascal;
Salomon, Rémi;
Tellier, Anne-Lorraine;
Augé, Joelle;
Bouissou, François;
Antignac, Corinne;
Gubler, Marie-Claire;
Eccles, Michel R;
Munnich, Arnold;
Vekemans, Michel;
Lyonnet, Stanislas;
Attié-Bitach, Tania

Publication type:

Article

Combined segregation and linkage analysis of inflammatory bowel disease in the IBD1 region using severity to characterise Crohn's disease and ulcerative colitis.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 11, p. 846

By:

Forabosco, Paola;
Collins, Andrew;
Latiano, Anna;
Annese, Vito;
Clementi, Maurizio;
Andriulli, Angelo;
Fortina, Paolo;
Devoto, Marcella;
Morton, Newton E

Publication type:

Article

Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 11, p. 900, doi. 10.1038/sj.ejhg.5200554

By:

Varon, Raymonda;
Seemanova, Eva;
Chrzanowska, Krystyna;
Hnateyko, Oleg;
Piekutowska-Abramczuk, Dorota;
Krajewska-Walasek, Malgorzata;
Sykut-Cegielska, Jolanta;
Sperling, Karl;
Reis, André

Publication type:

Article

Localisation of the gene responsible for Fechtner syndrome in a region <600 Kb on 22q11–q13.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 11, p. 895, doi. 10.1038/sj.ejhg.5200533

By:

Cusano, R;
Gangarossa, S;
Forabosco, P;
Caridi, G;
Ghiggeri, G M;
Russo, G;
Iolascon, A;
Ravazzolo, R;
Seri, M

Publication type:

Article

Simple two-color array-based approach for mutation detection.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 11, p. 884, doi. 10.1038/sj.ejhg.5200558

By:

Fortina, Paolo;
Delgrosso, Kathleen;
Sakazume, Taku;
Santacroce, Rosa;
Moutereau, Stephane;
Su, Hung-Ju;
Graves, David;
McKenzie, Steven;
Surrey, Saul

Publication type:

Article

Genotype–phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 11, p. 837

By:

Cailloux, Fabrice;
Gauthier-Barichard, Fernande;
Mimault, Corinne;
Isabelle, Valerie;
Courtois, Virginie;
Giraud, Geneviève;
Dastugue, Bernard;
Boespflug-Tanguy, Odile;
Disease, Clinical European Network on Brain Dysmyelinating

Publication type:

Article

CYP21 and CYP21P variability in steroid 21-hydroxylase deficiency patients and in the general population in the Netherlands.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 11, p. 827, doi. 10.1038/sj.ejhg.5200543

By:

Koppens, Paul FJ;
Hoogenboezem, Theo;
Degenhart, Herman J

Publication type:

Article

Familial Robertsonian translocation 15;21 and rare paracentric inv(21): unexpected re-inversion in a child with translocation trisomy 21.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 11, p. 815, doi. 10.1038/sj.ejhg.5200544

By:

Mau, Ulrike A;
Petruch, Uwe R;
Kaiser, Peter;
Eggermann, Thomas

Publication type:

Article

Breakpoint sequences of an 1;8 translocation in a family with Gilles de la Tourette syndrome.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 11, p. 875, doi. 10.1038/sj.ejhg.5200549

By:

Matsumoto, Naomichi;
David, Donna E;
Johnson, Eric W;
Konecki, David;
Burmester, James K;
Ledbetter, David H;
Weber, James L

Publication type:

Article

Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 11, p. 861, doi. 10.1038/sj.ejhg.5200552

By:

Demuth, Ilja;
Wlodarski, Marcin;
Tipping, Alex J;
Morgan, Neil V;
de Winter, Johan P;
Thiel, Michaela;
Gräsl, Sonja;
Schindler, Detlev;
D'Andrea, Alan D;
Altay, Cigdem;
Kayserili, Hülya;
Zatterale, Adriana;
Kunze, Jürgen;
Ebell, Wolfram;
Mathew, Christopher G;
Joenje, Hans;
Sperling, Karl;
Digweed, Martin

Publication type:

Article

Familial aggregation and heritability of asthma-associated quantitative traits in a population-based sample of nuclear families.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 11, p. 853, doi. 10.1038/sj.ejhg.5200551

By:

Palmer, Lyle J;
Burton, Paul R;
James, Alan L;
Musk, A William;
Cookson, William OCM

Publication type:

Article