TABLE OF CONTENTS

Volume 11, Issue 4 (April 2003)

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Articles

Disease-associated mutations in conserved residues of ALK-1 kinase domain FREE

Salma A Abdalla, Urszula Cymerman, Rachel M Johnson, Charles M Deber and Michelle Letarte

Eur J Hum Genet 11: 279-287; doi:10.1038/sj.ejhg.5200919

A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families FREE

Emanuel Yakobson, Shlomit Eisenberg, Ruth Isacson, David Halle, Efrat Levy-Lahad, Raphael Catane, Mark Safro, Vladimir Sobolev, Thomas Huot, Gordon Peters, Anna Ruiz, Josep Malvehy, Suzana Puig, Agnes Chompret, Marie-Fracoise Avril, Raphael Shafir, Hava Peretz and Brigitte Bressac-de Paillerets

Eur J Hum Genet 11: 288-296; doi:10.1038/sj.ejhg.5200961

Chromosome instability and nibrin protein variants in NBS heterozygotes FREE

Caterina Tanzarella, Antonio Antoccia, Emanuela Spadoni, Alessandra di Masi, Vanna Pecile, Eliana Demori, Raymonda Varon, Gian Luigi Marseglia, Luciano Tiepolo and Paola Maraschio

Eur J Hum Genet 11: 297-303; doi:10.1038/sj.ejhg.5200962

Apparent intrachromosomal exchange on the human Y chromosome explained by population history FREE

Ralf Kittler, Axel Erler, Silke Brauer, Mark Stoneking and Manfred Kayser

Eur J Hum Genet 11: 304-314; doi:10.1038/sj.ejhg.5200960

Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosome FREE

Deepak Kamnasaran, Patricia C O' Brien, Elaine H Zackai, Maximilian Muenke, Malcolm A Ferguson-Smith and Diane W Cox

Eur J Hum Genet 11: 315-324; doi:10.1038/sj.ejhg.5200963

Analysis of nine chromosome probes in first polar bodies and metaphase II oocytes for the detection of aneuploidies FREE

Aïda Pujol, Irene Boiso, Jordi Benet, Anna Veiga, Mercè Durban, Mercedes Campillo, Josep Egozcue and Joaquima Navarro

Eur J Hum Genet 11: 325-336; doi:10.1038/sj.ejhg.5200965

PNA on human sperm: a new approach for in situ aneuploidy estimation FREE

Franck Pellestor, Brigitte Andréo, Krihan Taneja and Brett Williams

Eur J Hum Genet 11: 337-341; doi:10.1038/sj.ejhg.5200958

Recent advances in the diagnosis of malignant hyperthermia susceptibility: How confident can we be of genetic testing? FREE

R L Robinson, M J Anetseder, V Brancadoro, C van Broekhoven, A Carsana, K Censier, G Fortunato, T Girard, L Heytens, P M Hopkins, K Jurkat-Rott, W Klinger, G Kozak-Ribbens, R Krivosic, N Monnier, Y Nivoche, D Olthoff, H Rueffert, V Sorrentino, V Tegazzin and C R Mueller

Eur J Hum Genet 11: 342-348; doi:10.1038/sj.ejhg.5200964

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Short Reports

DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 Gene FREE

Emanuela Conti, Nicoletta Grifone, Anna Sarkozy, Caterina Tandoi, Bruno Marino, Maria Cristina Digilio, Rita Mingarelli, Antonio Pizzuti and Bruno Dallapiccola

Eur J Hum Genet 11: 349-351; doi:10.1038/sj.ejhg.5200956

Skewed X chromosome inactivation in carriers is not a constant finding in FG syndrome FREE

Martine Raynaud, Sabine Dessay, Nathalie Ronce, John Opitz, Marcus Pembrey, Corrado Romano, Claude Moraine and Sylvain Briault

Eur J Hum Genet 11: 352-356; doi:10.1038/sj.ejhg.5200959

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