Works matching IS 10184813 AND DT 1998 AND VI 6 AND IP 2

Results: 14

Germline mutational analysis of presenilin 1 and APP genes in Jewish-Israeli individuals with familial or early-onset Alzheimer disease using denaturing gradient gel electrophoresis (DGGE).

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 2, p. 176, doi. 10.1038/sj.ejhg.5200160

By:

Reznik-Wolf, Haike;
Treves, Therese A;
Shabtai, Herzel;
Aharon-Peretz, Judith;
Chapman, Joab;
Davidson, Michael;
Barkai, Gad;
St George Hyslop, Peter H;
Goldman, Boleslaw;
Korczyn, Amos D;
Friedman, Eitan

Publication type:

Article

Prenatal diagnosis in CDG1 families: beware of heterogeneity.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 2, p. 99, doi. 10.1038/sj.ejhg.5200161

By:

Matthijs, Gert;
Schollen, Els;
Cassiman, Jean-Jacques;
Cormier-Daire, Valérie;
Jaeken, Jaak;
van Schaftingen, Emile

Publication type:

Article

Generation of a transcription map of a 1 Mbase region containing the HFE gene (6p22).

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 2, p. 105, doi. 10.1038/sj.ejhg.5200162

By:

Totaro, Angela;
Roetto, Antonella;
Rommens, Johanna M;
Grifa, Anna;
Carella, Massimo;
d'Agruma, Leonardo;
Valentino, Maria Assunta;
D'Ambrosio, Lucrezia;
Cicilano, Matteo;
Camaschella, Clara;
Franco, Brunella;
Gasparini, Paolo

Publication type:

Article

Evidence against a major role of PEG1/MEST in Silver–Russell syndrome.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 2, p. 114, doi. 10.1038/sj.ejhg.5200164

By:

Riesewijk, Anne M;
Blagitko, Nadya;
Schinzel, Albert A;
Hu, Landian;
Schulz, Ute;
Hamel, Ben CJ;
Ropers, Hans-Hilger;
Kalscheuer, Vera M

Publication type:

Article

Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 2, p. 129, doi. 10.1038/sj.ejhg.5200165

By:

Neyroud, Nathalie;
Denjoy, Isabelle;
Donger, Claire;
Gary, Françoise;
Villain, Elisabeth;
Leenhardt, Antoine;
Benali, Karim;
Schwartz, Ketty;
Coumel, Philippe;
Guicheney, Pascale

Publication type:

Article

A novel 25 bp tandem repeat within the human trefoil peptide gene TFF2 in 21q22.3: polymorphism and mammalian evolution.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 2, p. 121, doi. 10.1038/sj.ejhg.5200166

By:

Kayademir, Tuncay;
dos Santos Silva, Elisabeth;
Pusch, Carsten;
Beck, Stefanie;
Machado, Jose-Carlos;
Gött, Peter

Publication type:

Article

BRCA2 germline mutations in Swedish breast cancer families.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 2, p. 134, doi. 10.1038/sj.ejhg.5200167

By:

Chen, Jindong;
Hedman, Moraima Zelada;
Arver, Brita Wasteson;
Sigurdsson, Stefan;
Eyfjörd, Jorunn Erla;
Lindblom, Annika

Publication type:

Article

Isochromosomes 12p and 9p: parental origin and possible mechanisms of formation.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 2, p. 140, doi. 10.1038/sj.ejhg.5200168

By:

Dutly, Fabrizio;
Balmer, Damina;
Baumer, Alessandra;
Binkert, Franz;
Schinzel, Albert

Publication type:

Article

First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p and 4q.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 2, p. 151, doi. 10.1038/sj.ejhg.5200169

By:

Devoto, M;
Shimoya, K;
Caminis, J;
Ott, J;
Tenenhouse, A;
Whyte, M P;
Sereda, L;
Hall, S;
Considine, E;
Williams, C J;
Tromp, G;
Kuivaniemi, H;
Ala-Kokko, L;
Prockop, D J;
Spotila, L D

Publication type:

Article

Comparison of conformation-sensitive gel electrophoresis and single-strand conformation polymorphism analysis for detection of mutations in the BRCA1 gene using optimized conformation analysis protocols.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 2, p. 145, doi. 10.1038/sj.ejhg.5200171

By:

Markoff, Arseni;
Sormbroen, Helene;
Bogdanova, Nadia;
Preisler-Adams, Sabine;
Ganev, Varban;
Dworniczak, Bernd;
Horst, Jürgen

Publication type:

Article

Screening of CFTR mutations in an isolated population: identification of carriers and patients.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 2, p. 181, doi. 10.1038/sj.ejhg.5200174

By:

Chiba-Falek, Ornit;
Nissim-Rafinia, Malka;
Argaman, Zvi;
Genem, Adnan;
Moran, Ilana;
Kerem, Eitan;
Kerem, Batsheva

Publication type:

Article

Lower frequency of Gaucher disease carriers among Tay-Sachs disease carriers.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 2, p. 185, doi. 10.1038/sj.ejhg.5200176

By:

Peleg, L;
Frisch, A;
Goldman, B;
Karpaty, M;
Narinsky, R;
Bronstein, S;
Frydman, M

Publication type:

Article

Human EGFR, a candidate gene for the Silver-Russell syndrome, is biallelically expressed in a wide range of fetal tissues.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 2, p. 158, doi. 10.1038/sj.ejhg.5200179

By:

Wakeling, Emma L;
Abu-Amero, Sayeda N;
Stanier, Philip;
Preece, Michael A;
Moore, Gudrun E

Publication type:

Article

Evaluation of CFTR gene mutation testing methods in 136 diagnostic laboratories: report of a large European external quality assessment.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 2, p. 165, doi. 10.1038/sj.ejhg.5200195

By:

Dequeker, E;
Cassiman, J-J

Publication type:

Article