Volume 11; Issue 7

European Journal of Human Genetics

Volume 11; Issue 7

1

Mutations in the SPINK1 gene in idiopathic pancreatitis Italian patients

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

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 71 KB

english, 2003

2

In vitro follicular growth affects oocyte imprinting establishment in mice

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

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 192 KB

english, 2003

3

CATSPER2, a human autosomal nonsyndromic male infertility gene

Avidan, Nili, Tamary, Hannah, Dgany, Orly, Cattan, Daniel, Pariente, Alexandre, Thulliez, Michel, Borot, Nicolas, Moati, Lucien, Barthelme, Alain, Shalmon, Lea

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 185 KB

english, 2003

4

Y chromosomal heritage of Croatian population and its island isolates

Barać, Lovorka, Peričić, Marijana, Klarić, Irena Martinović, Rootsi, Siiri, Janićijević, Branka, Kivisild, Toomas, Parik, Jüri, Rudan, Igor, Villems, Richard, Rudan, Pavao

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 173 KB

english, 2003

5

Mutational spectrum of the CTNS gene in Italy

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

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 86 KB

english, 2003

6

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

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

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 104 KB

english, 2003

7

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

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

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 210 KB

english, 2003

8

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

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

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 240 KB

english, 2003

9

Familial Mediterranean fever is no longer a rare disease in Italy

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

Journal:

European Journal of Human Genetics

Year:

2003

File:

PDF, 31 KB

2003

10

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

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

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 32 KB

english, 2003

11

Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy

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

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 98 KB

english, 2003

12

Myotonic Dystrophy – The Facts

de Visser, Marianne

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 28 KB

english, 2003

13

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

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

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 32 KB

english, 2003