TABLE OF CONTENTS
Volume 13, Issue 5 (May 2005)
News and Commentaries
Genetic Testing: From chromosomes to DNA, a revolution in prenatal diagnosis FREE
Martijn H Breuning
Eur J Hum Genet 13: 517-518; advance online publication, February 23, 2005; doi:10.1038/sj.ejhg.5201327
Gene Therapy: The 'pro-sense' approach to Duchenne muscular dystrophy FREE
Judith C T van Deutekom
Eur J Hum Genet 13: 518-519; advance online publication, February 16, 2005; doi:10.1038/sj.ejhg.5201381
Genetic Epidemiology of Cancer: Relatively risky relatives FREE
Paul Pharoah
Eur J Hum Genet 13: 519-520; advance online publication, March 2, 2005; doi:10.1038/sj.ejhg.5201395
Evolutionary Genetics: The human brain – adaptation at many levels FREE
Michael C Oldham and Daniel H Geschwind
Eur J Hum Genet 13: 520-522; advance online publication, March 9, 2005; doi:10.1038/sj.ejhg.5201401
Letters
Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males FREE
Karine Poirier, Fiona Francis, Ben Hamel, Claude Moraine, Jean Pierre Fryns, Hans H Ropers, Jamel Chelly and Thierry Bienvenu
Eur J Hum Genet 13: 523-524; advance online publication, March 16, 2005; doi:10.1038/sj.ejhg.5201399
Unclassified variants in disease-causing genes: nonuniformity of genetic testing and counselling, a proposal for guidelines FREE
Geraldine R Vink, Christi J van Asperen, Peter Devilee, Martijn H Breuning and Egbert Bakker
Eur J Hum Genet 13: 525-527; advance online publication, March 2, 2005; doi:10.1038/sj.ejhg.5201379
Articles
Clinical Genetics
Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki–Shaffer syndrome FREE
Keiko Wakui, Giuliana Gregato, Blake C Ballif, Caron D Glotzbach, Kristen A Bailey, Pao-Lin Kuo, Whui-Chen Sue, Leslie J Sheffield, Mira Irons, Enrique G Gomez, Jacqueline T Hecht, Lorraine Potocki and Lisa G Shaffer
Eur J Hum Genet 13: 528-540; doi:10.1038/sj.ejhg.5201366
Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation FREE
David Geneviève, Delphine Héron, Vincent El Ghouzzi, Catherine Prost-Squarcioni, Martine Le Merrer, Aurélia Jacquette, Damien Sanlaville, Florence Pinton, Nathalie Villeneuve, Gabriel Kalifa, Arnold Munnich and Valérie Cormier-Daire
Eur J Hum Genet 13: 541-546; advance online publication, February 23, 2005; doi:10.1038/sj.ejhg.5201339
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia FREE
Jason Kennedy, Gail Jackson, Simon Ramsden, Jacky Taylor, William Newman, Michael J Wright, Dian Donnai, Rob Elles and Michael D Briggs
Eur J Hum Genet 13: 547-555; advance online publication, March 9, 2005; doi:10.1038/sj.ejhg.5201374
Genetic professionals' reports of nondisclosure of genetic risk information within families FREE
Angus Clarke, Martin Richards, Lauren Kerzin-Storrar, Jane Halliday, Mary Anne Young, Sheila A Simpson, Katie Featherstone, Karen Forrest, Anneke Lucassen, Patrick J Morrison, Oliver W J Quarrell, Helen Stewart and collaborators
Eur J Hum Genet 13: 556-562; advance online publication, March 16, 2005; doi:10.1038/sj.ejhg.5201394
Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome FREE
Denise Horn, Magdalena Chyrek, Saskia Kleier, Sabine Lüttgen, Hanno Bolz, Georg-Klaus Hinkel, Georg Christoph Korenke, Angelika Rie
, Can Schell-Apacik, Sigrid Tinschert, Dagmar Wieczorek, Gabriele Gillessen-Kaesbach and Kerstin Kutsche
Eur J Hum Genet 13: 563-569; advance online publication, March 16, 2005; doi:10.1038/sj.ejhg.5201391
Cytogenetics
About the origin and development of hereditary conventional renal cell carcinoma in a four-generation t(3;8)(p14.1;q24.23) family FREE
Laura Valle, Alberto Cascón, Lorenzo Melchor, Ignacio Otero, Sandra Rodríguez-Perales, Lydia Sánchez, Juan Cruz Cigudosa, Mercedes Robledo, Barbara Weber, Miguel Urioste and Javier Benítez
Eur J Hum Genet 13: 570-578; advance online publication, March 9, 2005; doi:10.1038/sj.ejhg.5201371
Functional disomy of the Xq28 chromosome region FREE
Damien Sanlaville, Marguerite Prieur, Marie-Christine de Blois, David Genevieve, Jean-Michel Lapierre, Catherine Ozilou, Monique Picq, Philippe Gosset, Nicole Morichon-Delvallez, Arnold Munnich, Valerie Cormier-Daire, Genevieve Baujat, Serge Romana, Michel Vekemans and Catherine Turleau
Eur J Hum Genet 13: 579-585; advance online publication, March 2, 2005; doi:10.1038/sj.ejhg.5201384
A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype FREE
Maria Clara Bonaglia, Roberto Giorda, Romano Tenconi, Marco Pessina, Tiziano Pramparo, Renato Borgatti and Orsetta Zuffardi
Eur J Hum Genet 13: 586-591; advance online publication, January 19, 2005; doi:10.1038/sj.ejhg.5201369
FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited SMC(22) FREE
Oliver Bartsch, Sasan Rasi, Kristina Hoffmann and Nikolaus Blin
Eur J Hum Genet 13: 592-598; advance online publication, March 9, 2005; doi:10.1038/sj.ejhg.5201378
Twin study of genetic and aging effects on X chromosome inactivation FREE
Marianne Kristiansen, Gun P S Knudsen, Lise Bathum, Anna K Naumova, Thorkild I A Sørensen, Thomas H Brix, Anders J Svendsen, Kaare Christensen, Kirsten O Kyvik and Karen H Ørstavik
Eur J Hum Genet 13: 599-606; advance online publication, March 9, 2005; doi:10.1038/sj.ejhg.5201398
Molecular Genetics
Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort FREE
Haifa Hichri, Corinne Stoetzel, Virginie Laurier, Solenne Caron, Sabine Sigaudy, Pierre Sarda, Christian Hamel, Dominique Martin-Coignard, Morin Gilles, Bruno Leheup, Mureille Holder, Josseline Kaplan, Pierre Bitoun, Didier Lacombe, Alain Verloes, Dominique Bonneau, Fabienne Perrin-Schmitt, Christian Brandt, Anne-Françoise Besancon, Jean-Louis Mandel, Mireille Cossée and Hélène Dollfus
Eur J Hum Genet 13: 607-616; advance online publication, March 16, 2005; doi:10.1038/sj.ejhg.5201372
Mutations and sequence variation in the human myosin heavy chain IIa gene (MYH2) FREE
Homa Tajsharghi, Niklas Darin, Elham Rekabdar, Mårten Kyllerman, Jan Wahlström, Tommy Martinsson and Anders Oldfors
Eur J Hum Genet 13: 617-622; advance online publication, March 2, 2005; doi:10.1038/sj.ejhg.5201375
LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation FREE
Emma L Blakely, Rajith de Silva, Andrew King, Verena Schwarzer, Tim Harrower, Gervase Dawidek, Douglass M Turnbull and Robert W Taylor
Eur J Hum Genet 13: 623-627; advance online publication, January 12, 2005; doi:10.1038/sj.ejhg.5201363
A y+LAT-1 mutant protein interferes with y+LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance FREE
Maria P Sperandeo, Simona Paladino, Luigi Maiuri, George D Maroupulos, Chiara Zurzolo, Maurizio Taglialatela, Generoso Andria and Gianfranco Sebastio
Eur J Hum Genet 13: 628-634; advance online publication, March 9, 2005; doi:10.1038/sj.ejhg.5201376
Cytogenetics
Familial nonrandom inactivation linked to the X inactivation centre in heterozygotes manifesting haemophilia A FREE
Maria Patrizia Bicocchi, Barbara R Migeon, Mirella Pasino, Tiziana Lanza, Federico Bottini, Elio Boeri, Angelo C Molinari, Fabio Corsolini, Cristina Morerio and Maura Acquila
Eur J Hum Genet 13: 635-640; advance online publication, March 2, 2005; doi:10.1038/sj.ejhg.5201386
Molecular Genetics
Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments FREE
Elisabetta Tabolacci, Roberta Pietrobono, Umberto Moscato, Ben A Oostra, Pietro Chiurazzi and Giovanni Neri
Eur J Hum Genet 13: 641-648; advance online publication, March 2, 2005; doi:10.1038/sj.ejhg.5201393
Common regulatory elements in the polycystic kidney disease 1 and 2 promoter regions FREE
Irma S Lantinga-van Leeuwen, Wouter N Leonhard, Hans Dauwerse, Hans J Baelde, Bernard A van Oost, Martijn H Breuning and Dorien J M Peters
Eur J Hum Genet 13: 649-659; advance online publication, March 16, 2005; doi:10.1038/sj.ejhg.5201392
Statistical and Population Genetics
Schistosomal hepatic fibrosis and the interferon gamma receptor: a linkage analysis using single-nucleotide polymorphic markers FREE
Ronald E Blanton, Ekram Abdel Salam, Amgad Ehsan, Charles H King and Katrina AB Goddard
Eur J Hum Genet 13: 660-668; advance online publication, March 9, 2005; doi:10.1038/sj.ejhg.5201388
Haplotype structure of TNFRSF5-TNFSF5 (CD40–CD40L) and association analysis in systemic lupus erythematosus FREE
Sapna Chadha, Katie Miller, Lisa Farwell, Liz B Lightstone, Mark J Daly, John D Rioux and Timothy J Vyse
Eur J Hum Genet 13: 669-676; advance online publication, January 12, 2005; doi:10.1038/sj.ejhg.5201367
Linkage disequilibrium patterns vary substantially among populations FREE
Sarah L Sawyer, Namita Mukherjee, Andrew J Pakstis, Lars Feuk, Judith R Kidd, Anthony J Brookes and Kenneth K Kidd
Eur J Hum Genet 13: 677-686; advance online publication, January 19, 2005; doi:10.1038/sj.ejhg.5201368
Short Reports
Frequency of large CFTR gene rearrangements in Italian CF patients FREE
Cristina Bombieri, Alberto Bonizzato, Carlo Castellani, Baroukh M Assael and Pier Franco Pignatti
Eur J Hum Genet 13: 687-689; advance online publication, March 2, 2005; doi:10.1038/sj.ejhg.5201387
Failure to detect an 8p22–8p23.1 duplication in patients with Kabuki (Niikawa–Kuroki) syndrome FREE
Damien Sanlaville, David Genevieve, Céline Bernardin, Jeanne Amiel, Clarisse Baumann, Marie-Christine de Blois, Valérie Cormier-Daire, Bénédicte Gerard, Marion Gerard, Martine Le Merrer, Philippe Parent, Fabienne Prieur, Marguerite Prieur, Odile Raoul, Annick Toutain, Alain Verloes, Géraldine Viot, Serge Romana, Arnold Munnich, Stanislas Lyonnet, Michel Vekemans and Catherine Turleau
Eur J Hum Genet 13: 690-693; advance online publication, March 16, 2005; doi:10.1038/sj.ejhg.5201383
Corrigendum
One-third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations in rod region FREE
Lotte Hougs, Ole Havndrup, Henning Bundgaard, Lars Køber, Jens Vuust, Lars Allan Larsen, Michael Christiansen and Paal Skytt Andersen
Eur J Hum Genet 13: 694; doi:10.1038/sj.ejhg.5201385
