Works matching IS 10184813 AND DT 1998 AND VI 6 AND IP 4

Results: 18

Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 4, p. 325, doi. 10.1038/sj.ejhg.5200189

By:

Laporte, Jocelyn;
Guiraud-Chaumeil, Christophe;
Tanner, Stephan M;
Blondeau, François;
Hu, Ling-Jia;
Vicaire, Serge;
Liechti-Gallati, Sabina;
Mandel, Jean-Louis

Publication type:

Article

Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the γ-sarcoglycan gene.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 4, p. 396, doi. 10.1038/sj.ejhg.5200197

By:

Lasa, Adriana;
Piccolo, Federica;
de Diego, Carles;
Jeanpierre, Marc;
Colomer, Jaume;
Rodríguez, Maria José;
Urtizberea, Jon Andoni;
Baiget, Montserrat;
Kaplan, Jean Claude;
Gallano, Pia

Publication type:

Article

Isolation of a novel human voltage-dependent anion channel gene.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 4, p. 337, doi. 10.1038/sj.ejhg.5200198

By:

Rahmani, Zohra;
Maunoury, Catherine;
Siddiqui, Aleem

Publication type:

Article

Asynchronous replication of allelic loci in Down syndrome.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 4, p. 359, doi. 10.1038/sj.ejhg.5200199

By:

Amiel, Aliza;
Avivi, Lydia;
Gaber, Elena;
Fejgin, Moshe D

Publication type:

Article

Genetic diversity in Northern Spain (Basque Country and Cantabria): GM and KM variation related to demographic histories.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 4, p. 315, doi. 10.1038/sj.ejhg.5200186

By:

Esteban, E;
Dugoujon, J M;
Guitard, E;
Sénégas, M T;
Manzano, C;
de la Rúa, C;
Valveny, N;
Moral, P

Publication type:

Article

Crossing over analysis at pachytene in man.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 4, p. 350, doi. 10.1038/sj.ejhg.5200200

By:

Barlow, A L;
Hultén, M A

Publication type:

Article

Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 4, p. 308, doi. 10.1038/sj.ejhg.5200190

By:

Mornet, E;
Taillandier, A;
Peyramaure, S;
Kaper, F;
Muller, F;
Brenner, R;
Bussière, P;
Freisinger, P;
Godard, J;
Le Merrer, M;
Oury, J F;
Plauchu, H;
Puddu, R;
Rival, J M;
Superti-Furga, A;
Touraine, R L;
Serre, J L;
Simon-Bouy, B

Publication type:

Article

Linkage analysis in two large Italian pedigrees affected with nail patella syndrome.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 4, p. 345, doi. 10.1038/sj.ejhg.5200191

By:

Melchionda, Salvatore;
Seri, Marco;
Carella, Massimo;
Piemontese, Maria Rosaria;
Zhang, Xiao-xiao;
Zelante, Leopoldo;
Romeo, Giovanni;
Gasparini, Paolo

Publication type:

Article

Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 4, p. 331, doi. 10.1038/sj.ejhg.5200194

By:

Kjaergaard, Susanne;
Skovby, Flemming;
Schwartz, Marianne

Publication type:

Article

Refined mapping of the gene encoding the p127 kDa UV-damaged DNA-binding protein (DDB1) within 11q12-q13.1 and its exclusion in Best's vitelliform macular dystrophy.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 4, p. 400, doi. 10.1038/sj.ejhg.5200196

By:

Stöhr, Heidi;
Marquardt, Andreas;
Rivera, Andrea;
Kellner, Ulrich;
Weber, Bernhard HF

Publication type:

Article

A second Middle Eastern kindred with autosomal recessive non-syndromic hearing loss segregates DFNB9.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 4, p. 341, doi. 10.1038/sj.ejhg.5200201

By:

Leal, Suzanne M;
Apaydin, Fazil;
Barnwell, Carol;
Iber, Metin;
Kandogan, Tolga;
Pfister, Markus;
Braendle, Uwe;
Cura, Orhan;
Schwalb, Marvin;
Zenner, Hans-Peter;
Vitale, Emilia

Publication type:

Article

mtDNA analysis of the Galician population: a genetic edge of European variation.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 4, p. 365, doi. 10.1038/sj.ejhg.5200202

By:

Salas, Antonio;
Comas, David;
Lareu, María Victoria;
Bertranpetit, Jaume;
Carracedo, Angel

Publication type:

Article

A very high density microsatellite map (1 STR / 41 kb) of 1.7 Mb on Xp22 spanning the microphthalmia with linear skin defects (MLS) syndrome critical region.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 4, p. 406, doi. 10.1038/sj.ejhg.5200203

By:

Cox, Timothy C;
Cox, Liza L;
Ballabio, Andrea

Publication type:

Article

Migraine, ataxia and epilepsy: a challenging spectrum of genetically determined calcium channelopathies.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 4, p. 297

By:

Terwindt, G M;
Ophoff, R A;
Haan, Joost;
Sandkuijl, L A;
Frants, R R

Publication type:

Article

Educational material on genetics for schools: ‘The Science behind the Jeans for Genes Day’.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 4, p. 413, doi. 10.1038/sj.ejhg.5200214

By:

Pembrey, M;
Tizzard, J

Publication type:

Article

Erratum.

Published in:: 1998
Publication type:: Correction Notice

Mitochondrial DNA analysis on remains of a putative son of Louis XVI, King of France and Marie-Antoinette.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 4, p. 383, doi. 10.1038/sj.ejhg.5200227

By:

Jehaes, Els;
Decorte, Ronny;
Peneau, Alain;
Petrie, Johan H;
Boiry, Philippe A;
Gilissen, Anja;
Moisan, Jean Paul;
Van den Berghe, Herman;
Pascal, Olivier;
Cassiman, Jean-Jacques

Publication type:

Article

Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23–q24.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 4, p. 376, doi. 10.1038/sj.ejhg.5200229

By:

van der Vleuten, A J W;
van Ravenswaaij-Arts, C M A;
Frijns, C J M;
Smits, A P T;
Hageman, G;
Padberg, G W;
Kremer, H

Publication type:

Article