Works matching IS 10184813 AND DT 2001 AND VI 9 AND IP 7

Results: 13

No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 7, p. 556, doi. 10.1038/sj.ejhg.5200660

By:

Vourc'h, Patrick;
Bienvenu, Thierry;
Beldjord, Cherif;
Chelly, Jamel;
Barthélémy, Catherine;
Müh, Jean Pierre;
Andres, Christian

Publication type:

Article

Linear increase of diploidy in human sperm with age: A four-colour FISH study.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 7, p. 533, doi. 10.1038/sj.ejhg.5200659

By:

Bosch, Mercè;
Rajmil, Osvaldo;
Martínez-Pasarell, Olga;
Egozcue, Josep;
Templado, Cristina

Publication type:

Article

The spectrum of Familial Mediterranean Fever (FMF) mutations.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 7, p. 473, doi. 10.1038/sj.ejhg.5200658

By:

Touitou, Isabelle

Publication type:

Article

Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 7, p. 519, doi. 10.1038/sj.ejhg.5200661

By:

Runte, Maren;
Färber, Claudia;
Lich, Christina;
Zeschnigk, Michael;
Buchholz, Tina;
Smith, Arabella;
Van Maldergem, Lionel;
Bürger, Joachim;
Muscatelli, Françoise;
Gillessen-Kaesbach, Gabriele;
Horsthemke, Bernhard;
Buiting, Karin

Publication type:

Article

Physical and transcriptional map of the hereditary inclusion body myopathy locus on chromosome 9p12-p13.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 7, p. 501, doi. 10.1038/sj.ejhg.5200665

By:

Eisenberg, Iris;
Hochner, Hagit;
Shemesh, Moshe;
Levi, Tatjana;
Potikha, Tamara;
Sadeh, Menachem;
Argov, Zohar;
Jackson, Cynthia L;
Mitrani-Rosenbaum, Stella

Publication type:

Article

Best practice guidelines for molecular analysis in spinal muscular atrophy.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 7, p. 484, doi. 10.1038/sj.ejhg.5200667

By:

Scheffer, Hans;
Cobben, Jan Maarten;
Matthijs, Gert;
Wirth, Brunhilde

Publication type:

Article

Men at risk of being a mutation carrier for hereditary breast/ovarian cancer: an exploration of attitudes and psychological functioning during genetic testing.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 7, p. 492, doi. 10.1038/sj.ejhg.5200668

By:

Lodder, Litanja;
Frets, Petra G;
Trijsburg, R Willem;
Tibben, Aad;
Meijers-Heijboer, E Johanna;
Duivenvoorden, Hugo J;
Wagner, Anja;
van der Meer, Conny A;
Devilee, Peter;
Cornelisse, Cees J;
Niermeijer, Martinus F

Publication type:

Article

Cytogenetic analyses of culture failures by comparative genomic hybridisation (CGH)–Re-evaluation of chromosome aberration rates in early spontaneous abortions.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 7, p. 539, doi. 10.1038/sj.ejhg.5200669

By:

Fritz, Barbara;
Hallermann, Christian;
Olert, Jürgen;
Fuchs, Brigitte;
Bruns, Marion;
Aslan, Mücevher;
Schmidt, Stefan;
Coerdt, Wiltrud;
Müntefering, Horst;
Rehder, Helga

Publication type:

Article

Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 7, p. 527, doi. 10.1038/sj.ejhg.5200670

By:

Sismani, Carolina;
Armour, John AL;
Flint, Jonathan;
Girgalli, Christina;
Regan, Regina;
Patsalis, Philippos C

Publication type:

Article

Parental mosaicism of JAG1 mutations in families with Alagille syndrome.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 7, p. 559, doi. 10.1038/sj.ejhg.5200671

By:

Giannakudis, Joannis;
Röpke, Albrecht;
Kujat, Annegret;
Krajewska-Walasek, Malgorzata;
Hughes, Helen;
Fryns, Jean-Pierre;
Bankier, Agnes;
Amor, David;
Schlicker, Mike;
Hansmann, Ingo

Publication type:

Article

Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 7, p. 553, doi. 10.1038/sj.ejhg.5200674

By:

Yilmaz, Engin;
Ozen, Seza;
Balcı, Banu;
Duzova, Ali;
Topaloglu, Rezan;
Besbas, Nesrin;
Saatci, Umit;
Bakkaloglu, Aysin;
Ozguc, Meral

Publication type:

Article

MUC1 gene polymorphism in the gastric carcinogenesis pathway.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 7, p. 548, doi. 10.1038/sj.ejhg.5200677

By:

Silva, Filipe;
Carvalho, Filipa;
Peixoto, António;
Seixas, Mário;
Almeida, Raquel;
Carneiro, Fátima;
Mesquita, Patricia;
Figueiredo, Céu;
Nogueira, Cristina;
Swallow, Dallas M;
Amorim, António;
David, Leonor

Publication type:

Article

Functional characterization of novel mutations in the human cytochrome b gene.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 7, p. 510, doi. 10.1038/sj.ejhg.5200678

By:

Legros, Frédéric;
Chatzoglou, Evi;
Frachon, Paule;
Ogier de Baulny, Hélène;
Laforêt, Pascal;
Jardel, Claude;
Godinot, Catherine;
Lombès, Anne

Publication type:

Article