Works matching IS 10184813 AND DT 2000 AND VI 8 AND IP 4

Results: 15

Linkage of Marie-Unna hypotrichosis locus to chromosome 8p21 and exclusion of 10 genes including the hairless gene by mutation analysis.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 4, p. 273, doi. 10.1038/sj.ejhg.5200417

By:

Lefevre, Pascal;
Rochat, Ariane;
Bodemer, Christine;
Vabres, Pierre;
Barrandon, Yann;
de Prost, Yves;
Garner, Chad;
Hovnanian, Alain

Publication type:

Article

Identification of a novel 4.6-kb genomic deletion in presenilin-1 gene which results in exclusion of exon 9 in a Finnish early onset Alzheimer's disease family: an Alu core sequence-stimulated recombination?

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 4, p. 259, doi. 10.1038/sj.ejhg.5200423

By:

Hiltunen, Mikko;
Helisalmi, Seppo;
Mannermaa, Arto;
Alafuzoff, Irina;
Koivisto, Anne Maria;
Lehtovirta, Maarit;
Pirskanen, Mia;
Sulkava, Raimo;
Verkkoniemi, Auli;
Soininen, Hilkka

Publication type:

Article

Systematic analysis of X-inactivation in 19 XLMR families: extremely skewed profiles in carriers in three families.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 4, p. 253, doi. 10.1038/sj.ejhg.5200437

By:

Raynaud, Martine;
Moizard, Marie-Pierre;
Dessay, Benoît;
Briault, Sylvain;
Toutain, Annick;
Gendrot, Chantal;
Ronce, Nathalie;
Moraine, Claude

Publication type:

Article

A gene for ataxic cerebral palsy maps to chromosome 9p12–q12.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 4, p. 267, doi. 10.1038/sj.ejhg.5200445

By:

McHale, D P;
Jackson, A P;
Campbell, D A;
Levene, M I;
Corry, P;
Woods, C G;
Lench, N J;
Mueller, R F;
Markham, A F

Publication type:

Article

Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 4, p. 307, doi. 10.1038/sj.ejhg.5200446

By:

Stoffman, N;
Magal, N;
Shohat, T;
Lotan, R;
Koman, S;
Oron, A;
Danon, Y;
Halpern, G J;
Lifshitz, Y;
Shohat, M

Publication type:

Article

Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 4, p. 286

By:

Krämer, Franziska;
White, Karen;
Pauleikhoff, Daniel;
Gehrig, Andrea;
Passmore, Lori;
Rivera, Andrea;
Rudolph, Günther;
Kellner, Ulrich;
Andrassi, Monika;
Lorenz, Birgit;
Rohrschneider, Klaus;
Blankenagel, Anita;
Jurklies, Bernhard;
Schilling, Harald;
Schütt, Florian;
Holz, Frank G;
Weber, Bernhard HF

Publication type:

Article

Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndrome.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 4, p. 311, doi. 10.1038/sj.ejhg.5200448

By:

Hamlington, Jeanette D;
Clough, Mark V;
Dunston, Jennifer A;
McIntosh, Iain

Publication type:

Article

Identification of female carriers for Duchenne and Becker muscular dystrophies using a FISH-based approach.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 4, p. 293, doi. 10.1038/sj.ejhg.5200450

By:

Ligon, Azra H;
Kashork, Catherine D;
Richards, C Sue;
Shaffer, Lisa G

Publication type:

Article

Reproductive and menstrual history of females with fragile X expansions.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 4, p. 247, doi. 10.1038/sj.ejhg.5200451

By:

Murray, Anna;
Ennis, Sarah;
MacSwiney, Felicity;
Webb, James;
Morton, Newton E

Publication type:

Article

RNA-based mutation screening in German families with Sjögren-Larsson syndrome.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 4, p. 299, doi. 10.1038/sj.ejhg.5200453

By:

Kraus, C;
Braun-Quentin, C;
Ballhausen, W G;
Pfeiffer, R A

Publication type:

Article

Molecular analysis of the mature T cell proliferation-1 (MTCP-1) gene in Xq28-linked incontinentia pigmenti.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 4, p. 239, doi. 10.1038/sj.ejhg.5200454

By:

Woffendin, Hayley;
Esposito, Teresa;
Jakins, Tracy;
Bardaro, Tiziana;
Stern, Marc-Henri;
Kenwrick, Sue

Publication type:

Article

Frequency of mitochondrial DNA point mutations among patients with familial sensorineural hearing impairment.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 4, p. 315, doi. 10.1038/sj.ejhg.5200455

By:

Lehtonen, Mervi S;
Uimonen, Seija;
Hassinen, Ilmo E;
Majamaa, Kari

Publication type:

Article

Phenotype in patients with Angelman syndrome.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 4, p. 241, doi. 10.1038/sj.ejhg.5200456

By:

Dan, Bernard

Publication type:

Article

Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3v EGF-like repeat domains.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 4, p. 280, doi. 10.1038/sj.ejhg.5200460

By:

Dichgans, Martin;
Ludwig, Harald;
Müller-Höcker, Josef;
Messerschmidt, Albrecht;
Gasser, Thomas

Publication type:

Article

Familial Mediterranean fever in the ‘Chuetas’ of Mallorca: a question of Jewish origin or genetic heterogeneity.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 4, p. 242, doi. 10.1038/sj.ejhg.5200462

By:

Domingo, Cecile;
Touitou, Isabelle;
Bayou, Anne;
Ozen, Seza;
Notarnicola, Cecile;
Dewalle, Marie;
Demaille, Jacques;
Buades, Rene;
Sayadat, Chalom;
Levy, Micha;
Ben-Chetrit, Eldad

Publication type:

Article