Works matching IS 10184813 AND DT 2003 AND VI 11 AND IP 7

Results: 13

Mutational spectrum of the CTNS gene in Italy.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 7, p. 503, doi. 10.1038/sj.ejhg.5200993

By:

Mason, Silvia;
Pepe, Guglielmina;
Dall'Amico, Roberto;
Tartaglia, Sara;
Casciani, Stefania;
Greco, Marcella;
Bencivenga, Paola;
Murer, Luisa;
Rizzoni, Gianfranco;
Tenconi, Romano;
Clementi, Maurizio

Publication type:

Article

Mutations in the SPINK1 gene in idiopathic pancreatitis Italian patients.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 7, p. 543, doi. 10.1038/sj.ejhg.5200989

By:

Gomez-Lira, Macarena;
Bonamini, Deborah;
Castellani, Carlo;
Unis, Lorenza;
Cavallini, Giorgio;
Assael, Baroukh Maurice;
Pignatti, Pier Franco

Publication type:

Article

In vitro follicular growth affects oocyte imprinting establishment in mice.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 7, p. 493, doi. 10.1038/sj.ejhg.5200990

By:

Kerjean, Antoine;
Couvert, Philippe;
Heams, Thomas;
Chalas, Celine;
Poirier, Karine;
Chelly, Jamel;
Jouannet, Pierre;
Paldi, Andras;
Poirot, Catherine

Publication type:

Article

CATSPER2, a human autosomal nonsyndromic male infertility gene.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 7, p. 497, doi. 10.1038/sj.ejhg.5200991

By:

Avidan, Nili;
Tamary, Hannah;
Dgany, Orly;
Cattan, Daniel;
Pariente, Alexandre;
Thulliez, Michel;
Borot, Nicolas;
Moati, Lucien;
Barthelme, Alain;
Shalmon, Lea;
Krasnov, Tatyana;
Ben-Asher, Edna;
Olender, Tsvyia;
Khen, Miriam;
Yaniv, Issac;
Zaizov, Rina;
Shalev, Hanna;
Delaunay, Jean;
Fellous, Marc

Publication type:

Article

Y chromosomal heritage of Croatian population and its island isolates.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 7, p. 535, doi. 10.1038/sj.ejhg.5200992

By:

Barac, Lovorka;
Pericic, Marijana;
Klaric, Irena Martinovic;
Rootsi, Siiri;
Janicijevic, Branka;
Kivisild, Toomas;
Parik, Juri;
Rudan, Igor;
Villems, Richard;
Rudan, Pavao

Publication type:

Article

Identification of 11 novel and common single nucleotide polymorphisms in the interleukin-7 receptor-a gene and their associations with multiple sclerosis.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 7, p. 509, doi. 10.1038/sj.ejhg.5200994

By:

Teutsch, Suzy M;
Booth, David R;
Bennetts, Bruce H;
Heard, Robert N S;
Stewart, Graeme J

Publication type:

Article

Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 7, p. 527, doi. 10.1038/sj.ejhg.5200995

By:

Ramocki, Melissa B;
Dowling, James;
Grinberg, Inessa;
Kimonis, Virginia E;
Cardoso, Carlos;
Gross, Alyssa;
Chung, June;
Lese Martin, Christa;
Ledbetter, David H;
Dobyns, William B;
Millen, Kathleen J

Publication type:

Article

Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 7, p. 516, doi. 10.1038/sj.ejhg.5200996

By:

Burwinkel, Barbara;
Hu, Bin;
Schroers, Anja;
Clemens, Paula R;
Moses, Shimon W;
Shin, Yoon S;
Pongratz, Dieter;
Vorgerd, Matthias;
Kilimann, Manfred W

Publication type:

Article

Familial Mediterranean fever is no longer a rare disease in Italy.

Published in:

2003

By:

La Regina, Micaela;
Nucera, Gabriella;
Diaco, Marialuisa;
Procopio, Antonio;
Gasbarrini, Giovanni;
Notarnicola, Cecile;
Kone-Paut, Isabelle;
Touitou, Isabelle;
Manna, Raffaele

Publication type:

Correction Notice

Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients.

Published in:

2003

By:

Kocaefe, Y Cetin;
Erdem, Sevim;
Ozguc, Meral;
Tan, Ersin

Publication type:

Correction Notice

Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 7, p. 547, doi. 10.1038/sj.ejhg.5201002

By:

Van Goethem, Gert;
Schwartz, Marianne;
Lofgren, Ann;
Dermaut, Bart;
Van Broeckhoven, Christine;
Vissing, John

Publication type:

Article

Myotonic Dystrophy - The Facts.

Published in:

2003

By:

de Visser, Marianne

Publication type:

Book Review

Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.

Published in:

2003

By:

Musante, Luciana;
Kehl, Hans G;
Majewski, Frank;
Meinecke, Peter;
Schweiger, Susann;
Gillessen-Kaesbach, Gabriele;
Wieczorek, Dagmar;
Hinkel, Georg K;
Tinschert, Sigrid;
Hoeltzenbein, Maria;
Ropers, Hans-Hilger;
Kalscheurer, Vera M

Publication type:

Correction Notice