Works matching IS 10184813 AND DT 1999 AND VI 7 AND IP 1

Results: 14

Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS).

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 1, p. 20, doi. 10.1038/sj.ejhg.5200231

By:

Abidi, Fatima;
Jacquot, Sylvie;
Lassiter, Christopher;
Trivier, Elizabeth;
Hanauer, André;
Schwartz, Charles E

Publication type:

Article

Mutations within or upstream of the basic helix–loop–helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 1, p. 27, doi. 10.1038/sj.ejhg.5200240

By:

El Ghouzzi, Vincent;
Lajeunie, Elisabeth;
Le Merrer, Martine;
Cormier-Daire, Valérie;
Renier, Dominique;
Munnich, Arnold;
Bonaventure, Jacky

Publication type:

Article

Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 1, p. 68, doi. 10.1038/sj.ejhg.5200260

By:

Silahtaroglu, Asli;
Hol, Frans A;
Jensen, Peter KA;
Erdel, Martin;
Duba, Hans-Christoph;
Geurds, Monique PA;
Knoers, Nine VAM;
Mariman, Edwin CM;
Tümer, Zeynep;
Utermann, Gerd;
Wirth, Jutta;
Bugge, Merete;
Tommerup, Niels

Publication type:

Article

Full results of the genome-wide scan which localises a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31–q33.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 1, p. 88, doi. 10.1038/sj.ejhg.5200243

By:

Marquet, Sandrine;
Abel, Laurent;
Hillaire, Dominique;
Dessein, Alain

Publication type:

Article

An integrated map of chromosome 18 CAG trinucleotide repeat loci.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 1, p. 12, doi. 10.1038/sj.ejhg.5200246

By:

Grierson, Andy J;
van Groenigen, Marjon;
Groot, Nancy PB;
Lindblad, Kerstin;
Hoovers, Jan MN;
Schalling, Martin;
de Belleroche, Jackie;
Baas, Frank

Publication type:

Article

Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNA<sup>Ser(UCN)</sup> gene.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 1, p. 45, doi. 10.1038/sj.ejhg.5200247

By:

Verhoeven, Kristien;
Ensink, Robbert JH;
Tiranti, Valeria;
Huygen, Patrick LM;
Johnson, David F;
Schatteman, Isabelle;
Van Laer, Lut;
Verstreken, Margriet;
Van de Heyning, Paul;
Fischel-Ghodsian, Nathan;
Zeviani, Massimo;
Cremers, Cor WRJ;
Willems, Patrick J;
Van Camp, Guy

Publication type:

Article

Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 1, p. 52, doi. 10.1038/sj.ejhg.5200248

By:

Wijker, M;
Morgan, N V;
Herterich, S;
van Berkel, C G M;
Tipping, A J;
Gross, H J;
Gille, J J P;
Pals, G;
Savino, M;
Altay, C;
Mohan, S;
Dokal, I;
Cavenagh, J;
Marsh, J;
Van Weel, M;
Ortega, J J;
Schuler, D;
Samochatova, E;
Karwacki, M

Publication type:

Article

Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 1, p. 34, doi. 10.1038/sj.ejhg.5200242

By:

Weber, Birgit;
Guo, Xiao-Hui;
Kleijer, Wim J;
van de Kamp, Jacques JP;
Poorthuis, Ben JHM;
Hopwood, John J

Publication type:

Article

New strategy for multi-colour fluorescence in situ hybridisation: COBRA: COmbined Binary RAtio labelling.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 1, p. 2, doi. 10.1038/sj.ejhg.5200265

By:

Tanke, H J;
Wiegant, J;
van Gijlswijk, R P M;
Bezrookove, V;
Pattenier, H;
Heetebrij, R J;
Talman, E G;
Raap, A K;
Vrolijk, J

Publication type:

Article

Lamellar Ichthyosis: further narrowing, physical and expression mapping of the chromosome 2 candidate locus.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 1, p. 77, doi. 10.1038/sj.ejhg.5200271

By:

Parmentier, L;
Clepet, C;
Boughdene-Stambouli, O;
Lakhdar, H;
Blanchet-Bardon, C;
Dubertret, L;
Wunderle, E;
Pulcini, F;
Fizames, C;
Weissenbach, J

Publication type:

Article

Spectrum of mutations in fucosidosis.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 1, p. 60, doi. 10.1038/sj.ejhg.5200272

By:

Willems, Patrick J;
Seo, Hee-Chan;
Coucke, Paul;
Tonlorenzi, Rossana;
O'Brien, John S

Publication type:

Article

First International SNP Meeting at Skokloster, Sweden, August 1998. Enthusiasm mixed with scepticism about single-nucleotide polymorphism markers for dissecting complex disorders.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 1, p. 98, doi. 10.1038/sj.ejhg.5200291

By:

Syvånen, Ann-Christine;
Landegren, Ulf;
Isaksson, Anders;
Gyllensten, Ulf;
Brookes, Anthony

Publication type:

Article

Errata.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 1, p. 102

By:

Hum, Eur J.

Publication type:

Article

Further growth in 1999.

Published in:

1999

By:

Ommen, G.J.B.

Publication type:

Editorial