Works matching IS 10184813 AND DT 2000 AND VI 8 AND IP 5

Results: 14

Microdissection of chromosome 2 – between-arm intrachromosomal insertion.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 5, p. 393, doi. 10.1038/sj.ejhg.5200421

By:

Friedrich, Ursula;
Houman, Mette;
Sandgaard, Jette;
Rosgaard, Anni;
Sunde, Lone

Publication type:

Article

Positional cloning and characterisation of the human DLGAP2 gene and its exclusion in progressive epilepsy with mental retardation.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 5, p. 381, doi. 10.1038/sj.ejhg.5200440

By:

Ranta, Susanna;
Zhang, Yonghui;
Ross, Barbara;
Takkunen, Elina;
Hirvasniemi, Aune;
de la Chapelle, Albert;
Gilliam, T Conrad;
Lehesjoki, Anna-Elina

Publication type:

Article

Novel mutations in the duplicated region of PKD1 gene.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 5, p. 353, doi. 10.1038/sj.ejhg.5200459

By:

Perrichot, R;
Mercier, B;
Quere, I;
Carre, A;
Simon, P;
Whebe, B;
Cledes, J;
Ferec, C

Publication type:

Article

Narrowing the Duane syndrome critical region at chromosome 8q13 down to 40 kb.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 5, p. 319, doi. 10.1038/sj.ejhg.5200461

By:

Calabrese, G;
Telvi, L;
Capodiferro, F;
Morizio, E;
Pizzuti, A;
Stuppia, L;
Bordoni, R;
Ion, A;
Fantasia, D;
Mingarelli, R;
Palka, G

Publication type:

Article

Importance of searching for associated mitochondrial DNA alterations in patients with multiple deletions.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 5, p. 331, doi. 10.1038/sj.ejhg.5200463

By:

Paul, R;
Desnuelle, C;
Pouget, J;
Pellissier, J F;
Richelme, C;
Monfort, M F;
Butori, C;
Saunieres, A;
Paquis-Flucklinger, V

Publication type:

Article

Genetic structure of north-west Africa revealed by STR analysis.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 5, p. 360, doi. 10.1038/sj.ejhg.5200464

By:

Bosch, Elena;
Calafell, Francesc;
Pérez-Lezaun, Anna;
Clarimón, Jordi;
Comas, David;
Mateu, Eva;
Martínez-Arias, Rosa;
Morera, Bernal;
Brakez, Zahra;
Akhayat, Omar;
Sefiani, Abdelaziz;
Hariti, Ghania;
Cambon-Thomsen, Anne;
Bertranpetit, Jaume

Publication type:

Article

Haemochromatosis gene mutations and risk of coronary artery disease.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 5, p. 389, doi. 10.1038/sj.ejhg.5200465

By:

Battiloro, Eva;
Ombres, Domenico;
Pascale, Ester;
D'Ambrosio, Ettore;
Verna, Roberto;
Arca, Marcello

Publication type:

Article

Book Review.

Published in:

2000

By:

Cassiman, J-J

Publication type:

Book Review

MtDNA and Y chromosome polymorphisms in Hungary: inferences from the palaeolithic, neolithic and Uralic influences on the modern Hungarian gene pool.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 5, p. 339, doi. 10.1038/sj.ejhg.5200468

By:

Semino, Ornella;
Passarino, Giuseppe;
Quintana-Murci, Lluís;
Liu, Aiping;
Béres, Judit;
Czeizel, Andreas;
Santachiara-Benerecetti, A Silvana

Publication type:

Article

No evidence for the involvement of CAG/CTG repeats from within 18q21.33–q23 in bipolar disorder.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 5, p. 385, doi. 10.1038/sj.ejhg.5200469

By:

Goossens, Dirk;
Villafuerte, Sandra;
Tissir, Fadel;
Van Gestel, Sofie;
Claes, Stephan;
Souery, Daniel;
Massat, Isabelle;
Van den Bossche, Dirk;
Van Zand, Karel;
Mendlewicz, Julien;
Van Broeckhoven, Christine;
Del-Favero, Jurgen

Publication type:

Article

Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia).

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 5, p. 367, doi. 10.1038/sj.ejhg.5200470

By:

Schollen, Els;
Kjaergaard, Susanne;
Legius, Eric;
Schwartz, Marianne;
Matthijs, Gert

Publication type:

Article

Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 5, p. 372, doi. 10.1038/sj.ejhg.5200471

By:

Kibar, Zoha;
Dubé, Marie-Pierre;
Powell, Julie;
McCuaïg, Catherine;
Hayflick, Susan J;
Zonana, Jonathan;
Hovnanian, Alain;
Radhakrishna, Uppala;
Antonarakis, Stylianos E;
Benohanian, Antranik;
Sheeran, Amy D;
Stephan, Mark L;
Gosselin, Richard;
Kelsell, David P;
Christianson, Arnold L;
Fraser, F Clarke;
Der Kaloustian, Vazken M;
Rouleau, Guy A

Publication type:

Article

Cell type specificity in alternative splicing of the human mismatch repair gene hMSH2.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 5, p. 347, doi. 10.1038/sj.ejhg.5200472

By:

Clarke, Luka A;
Jordan, Peter;
Boavida, Maria Guida

Publication type:

Article

Preserved speech variant is allelic of classic Rett syndrome.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 5, p. 325, doi. 10.1038/sj.ejhg.5200473

By:

De Bona, Cristina;
Zappella, Michele;
Hayek, Giuseppe;
Meloni, Ilaria;
Vitelli, Francesca;
Bruttini, Mirella;
Cusano, Roberto;
Loffredo, Paola;
Longo, Ilaria;
Renieri, Alessandra

Publication type:

Article