Works matching IS 10184813 AND DT 2002 AND VI 10 AND IP 6

Results: 9

Locus for susceptibility for familial capillary malformation ('port-wine stain') maps to 5q.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 6, p. 375, doi. 10.1038/sj.ejhg.5200817

By:

Eerola, Iiro;
Boon, Laurence M.;
Watanabe, Shoji;
Grynberg, Henri;
Mulliken, John B.;
Vikkula, Miikka

Publication type:

Article

USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 6, p. 339, doi. 10.1038/sj.ejhg.5200831

By:

Adato, Avital;
Vreugde, Sarah;
Joensuu, Tarja;
Avidan, Nili;
Hamalainen, Riikka;
Belenkiy, Olga;
Olender, Tsviya;
Bonne-Tamir, Batsheva;
Ben-Asher, Edna;
Espinos, Carmen;
Millan, Jose M.;
Lehesjoki, Anna-Elina;
Flannery, John G.;
Avraham, Karen B.;
Pietrokovski, Shmuel;
Sankila, Eeva-Marja;
Beckmann, Jacques S.;
Lancet, Doron

Publication type:

Article

Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 6, p. 391, doi. 10.1038/sj.ejhg.5200813

By:

Medlej-Hashim, Myrna;
Mustapha, Mirna;
Chouery, Eliane;
Weil, Dominique;
Parronaud, Joel;
Salem, Nabiha;
Delague, Valerie;
Loiselet, Jacques;
Lathrop, Mark;
Petit, Christine;
Megarbane, Andre

Publication type:

Article

A cautionary note: false homozygosity for BRCA2 6174delT mutation resulting from a single nucleotide polymorphism masking the wt allele.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 6, p. 395, doi. 10.1038/sj.ejhg.5200821

By:

Solano, Angela R.;
Dourisboure, Ricardo J.;
Weitzel, Jeffrey;
Podesta, Ernesto J.

Publication type:

Article

Segregation analysis of HDL cholesterol in the NHLBI Family Heart Study and in Utah pedigrees.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 6, p. 367, doi. 10.1038/sj.ejhg.5200818

By:

Kronenberg, Florian;
Coon, Hilary;
Ellison, R. Curtis;
Borecki, Ingrid;
Arnett, Donna K.;
Province, Michael A.;
Eckfeldt, John H.;
Hopkins, Paul N.;
Hunt, Steven C.

Publication type:

Article

Chromosome analysis of epididymal and testicular spermatozoa in patients with azoospermia.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 6, p. 362, doi. 10.1038/sj.ejhg.5200814

By:

Burrello, Nunziatina;
Calogero, Aldo E.;
De Palma, Adele;
Grazioso, Caterina;
Torrisi, Carlo;
Barone, Nunziata;
Pafumi, Carlo;
D'Agata, Rosario;
Vicari, Enzo

Publication type:

Article

C677T mutation in the 5,10-MTHFR gene and risk of Down syndrome in Italy.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 6, p. 388, doi. 10.1038/sj.ejhg.5200819

By:

Stuppia, Liborio;
Gatta, Valentina;
Gaspari, Anna Rita;
Antonucci, Ivana;
Morizio, Elisena;
Calabrese, Giuseppe;
Palka, Giandomenico

Publication type:

Article

Linkage disequilibrium and demographic history of the isolated population of the Faroe Islands.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 6, p. 381, doi. 10.1038/sj.ejhg.5200816

By:

Jorgensen, Trove H.;
Degn, Birte;
Wang, August G.;
Vang, Maria;
Gurling, Hugh;
Kalsi, Gursharan;
McQuillin, Andrew;
Kruse, Torben A.;
Mors, Ole;
Ewald, Henrik

Publication type:

Article

The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 6, p. 351, doi. 10.1038/sj.ejhg.5200812

By:

Duba, Hans-Christoph;
Doll, Andreas;
Neyer, Michael;
Erdel, Martin;
Mann, Christian;
Hammerer, Ignaz;
Utermann, Gerd;
Grzeschik, Karl-Heinz

Publication type:

Article