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

Results: 21

Gene/longevity association studies at four autosomal loci (REN, THO, PARP, SOD2).

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 6, p. 534, doi. 10.1038/sj.ejhg.5200222

By:

De Benedictis, G;
Carotenuto, L;
Carrieri, G;
De Luca, M;
Falcone, E;
Rose, G;
Cavalcanti, S;
Corsonello, F;
Feraco, E;
Baggio, G;
Bertolini, S;
Mari, D;
Mattace, R;
Yashin, A I;
Bonafè, M;
Franceschi, C

Publication type:

Article

Exon organisation of the mouse gene encoding the Adrenoleukodystrophy related protein (ALDRP).

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 6, p. 638, doi. 10.1038/sj.ejhg.5200233

By:

Broccardo, Cyril;
Troffer-Charlier, Nathalie;
Savary, Stephane;
Mandel, Jean Louis;
Chimini, Giovanna

Publication type:

Article

A benign polymorphism in the aspartoacylase gene may cause misinterpretation of Canavan gene testing.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 6, p. 635, doi. 10.1038/sj.ejhg.5200225

By:

Propheta, Oshrat;
Magal, Nurit;
Shohat, Mordechai;
Eyal, Nurit;
Navot, Nir;
Horowitz, Miri

Publication type:

Article

Endemic Tyrolean infantile cirrhosis is not an allelic variant of Wilson's disease.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 6, p. 624, doi. 10.1038/sj.ejhg.5200235

By:

Wijmenga, C;
Müller, T;
Murli, I S;
Brunt, T;
Feichtinger, H;
Schönitzer, D;
Houwen, R H J;
Müller, W;
Sandkuijl, L A;
Pearson, P L

Publication type:

Article

Genetic homogeneity of lysinuric protein intolerance.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 6, p. 612, doi. 10.1038/sj.ejhg.5200236

By:

Lauteala, Tuija;
Mykkänen, Juha;
Sperandeo, Maria Pia;
Gasparini, Paolo;
Savontaus, Marja-Liisa;
Simell, Olli;
Andria, Generoso;
Sebastio, Gianfranco;
Aula, Pentti

Publication type:

Article

Exclusion of the SCN2B gene as candidate for CMT4B.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 6, p. 629, doi. 10.1038/sj.ejhg.5200220

By:

Bolino, Alessandra;
Seri, Marco;
Caroli, Francesco;
Eubanks, James;
Srinivasan, Jayashree;
Mandich, Paola;
Schenone, Angelo;
Quattrone, Aldo;
Romeo, Giovanni;
Catterall, William A;
Devoto, Marcella

Publication type:

Article

Germline mosaicism in Coffin-Lowry syndrome.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 6, p. 578, doi. 10.1038/sj.ejhg.5200230

By:

Jacquot, Sylvie;
Merienne, Karine;
Pannetier, Solange;
Blumenfeld, Sandra;
Schinzel, Albert;
Hanauer, André

Publication type:

Article

Polymorphism at the tetranucleotide repeat locus DYS389 in 10 populations reveals strong geographic clustering.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 6, p. 583, doi. 10.1038/sj.ejhg.5200223

By:

Rolf, Burkhard;
Meyer, Eckhard;
Brinkmann, Bernd;
de Knijff, Peter

Publication type:

Article

Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 6, p. 589, doi. 10.1038/sj.ejhg.5200224

By:

Pigg, Maritta;
Gedde-Dahl, Jr., Tobias;
Cox, Diane;
Hauβer, Ingrid;
Anton-Lamprecht, Ingrun;
Dahl, Niklas

Publication type:

Article

Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 6, p. 603, doi. 10.1038/sj.ejhg.5200234

By:

Bjursell, Cecilia;
Wahlström, Jan;
Berg, Kerstin;
Stibler, Helena;
Kristiansson, Bengt;
Matthijs, Gert;
Martinsson, Tommy

Publication type:

Article

X-linked ocular albinism: prevalence and mutations – a national study.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 6, p. 570, doi. 10.1038/sj.ejhg.5200226

By:

Rosenberg, Thomas;
Schwartz, Marianne

Publication type:

Article

His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 6, p. 616, doi. 10.1038/sj.ejhg.5200237

By:

Ha-Hao, Duc;
Hefter, Harald;
Stremmel, Wolfgang;
Castañeda-Guillot, Carlos;
Hernández, Ana Hernández;
Cox, Diane W;
Auburger, Georg

Publication type:

Article

Different ancestor alleles: a reason for the bimodal fragment size distribution in the minisatellite D2S44 (YNH24).

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 6, p. 597, doi. 10.1038/sj.ejhg.5200232

By:

Holmlund, G;
Lindblom, B

Publication type:

Article

Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 6, p. 563, doi. 10.1038/sj.ejhg.5200239

By:

Abe, Satoko;
Usami, Shin-ichi;
Shinkawa, Hideichi;
Weston, Mike D;
Overbeck, Larry D;
Hoover, Denise M;
Kenyon, Judy B;
Horai, Satoshi;
Kimberling, William J

Publication type:

Article

Fibulin-2 exhibits high degree of variability, but no structural changes concordant with abdominal aortic aneurysms.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 6, p. 642, doi. 10.1038/sj.ejhg.5200245

By:

Kuivaniemi, Helena;
Marshall, Andrew;
Ganguly, Arupa;
Chu, Mon-Li;
Abbott, William M;
Tromp, Gerard

Publication type:

Article

Genetic linkage of Meleda disease to chromosome 8qter.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 6, p. 542, doi. 10.1038/sj.ejhg.5200254

By:

Fischer, Judith;
Bouadjar, Bakar;
Heilig, Roland;
Fizames, Cécile;
Prud'homme, Jean-François;
Weissenbach, Jean

Publication type:

Article

Genetic mapping of X-linked loci involved in skewing of X chromosome inactivation in the human.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 6, p. 552, doi. 10.1038/sj.ejhg.5200255

By:

Naumova, Anna K;
Olien, Leonard;
Bird, Lynne M;
Smith, Mark;
Verner, Andrei E;
Leppert, Mark;
Morgan, Kenneth;
Sapienza, Carmen

Publication type:

Article

Identification of a locus on chromosome 7q31, DFNB14, responsible for prelingual sensorineural non-syndromic deafness.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 6, p. 548, doi. 10.1038/sj.ejhg.5200261

By:

Mustapha, Mirna;
Salem, Nabiha;
Weil, Dominique;
El-Zir, Elie;
Loiselet, Jacques;
Petit, Christine

Publication type:

Article

Author index.

Published in:: European Journal of Human Genetics, 1998, v. 6, n. 6, p. 647, doi. 10.1038/sj.ejhg.5200275
Publication type:: Article

Keyword index.

Published in:: European Journal of Human Genetics, 1998, v. 6, n. 6, p. 650, doi. 10.1038/sj.ejhg.5200276
Publication type:: Article

Chinese amend policy on sterilisation for genetic reasons.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 6, p. 533, doi. 10.1038/sj.ejhg.5200282

By:

Pembrey, Marcus;
Aymé, Ségolène

Publication type:

Article