TABLE OF CONTENTS
Volume 17, Issue 4 (April 2009)
News and Commentary
Cystic fibrosis diagnostic testing
When good CF tests go bad FREE
Trudi Mc Devitt and David Barton
Eur J Hum Genet 17: 403-405; advance online publication, December 3, 2008; doi:10.1038/ejhg.2008.229
Practical Genetics
Nephronophthisis FREE
Roslyn J Simms, Lorraine Eley and John A Sayer
Eur J Hum Genet 17: 406-416; advance online publication, December 10, 2008; doi:10.1038/ejhg.2008.238
Letter
Testing the parents to confirm genotypes of CF patients is highly recommended: report of two cases
Manfred Stuhrmann, Kai Brakensiek, Loukas Argyriou, Ingolf Boehm, Katrin Hinderhofer, Ingrid Bauer, Britta M Rhode, Madeleine Maelzer, Christine Zuehlke, Gabriele Krueger and Joerg Schmidtke
Eur J Hum Genet 17: 417-419; advance online publication, December 3, 2008; doi:10.1038/ejhg.2008.190
Articles
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome
Thomas E Neumann, Judith Allanson, Ines Kavamura, Bronwyn Kerr, Giovanni Neri, Jacqueline Noonan, Viviana Cordeddu, Kate Gibson, Andreas Tzschach, Gabriele Krüger, Maria Hoeltzenbein, Timm O Goecke, Hans Gerd Kehl, Beate Albrecht, Klaudiusz Luczak, Maria M Sasiadek, Luciana Musante, Rohan Laurie, Hartmut Peters, Marco Tartaglia, Martin Zenker and Vera Kalscheuer
Eur J Hum Genet 17: 420-425; advance online publication, October 15, 2008; doi:10.1038/ejhg.2008.188
Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion
Maria Clara Bonaglia, Roberto Giorda, Silvana Beri, Stefania Bigoni, Alberto Sensi, Anna Baroncini, Antonella Capucci, Cristina De Agostini, Rhian Gwilliam, Panos Deloukas, Ian Dunham and Orsetta Zuffardi
Eur J Hum Genet 17: 426-433; advance online publication, October 15, 2008; doi:10.1038/ejhg.2008.195
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance
Jill Clayton-Smith, Sarah Walters, Emma Hobson, Emma Burkitt-Wright, Rupert Smith, Annick Toutain, Jeanne Amiel, Stanislas Lyonnet, Sahar Mansour, David Fitzpatrick, Roberto Ciccone, Ivana Ricca, Orsetta Zuffardi and Dian Donnai
Eur J Hum Genet 17: 434-443; advance online publication, October 15, 2008; doi:10.1038/ejhg.2008.192
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
Dorien Lugtenberg, Tjitske Kleefstra, Astrid R Oudakker, Willy M Nillesen, Helger G Yntema, Andreas Tzschach, Martine Raynaud, Dietz Rating, Hubert Journel, Jamel Chelly, Cyril Goizet, Didier Lacombe, Jean-Michel Pedespan, Bernard Echenne, Gholamali Tariverdian, Declan O'Rourke, Mary D King, Andrew Green, Margriet van Kogelenberg, Hilde Van Esch, Jozef Gecz, Ben C J Hamel, Hans van Bokhoven and Arjan P M de Brouwer
Eur J Hum Genet 17: 444-453; advance online publication, November 5, 2008; doi:10.1038/ejhg.2008.208
Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21
Robert Lyle, Frédérique Béna, Sarantis Gagos, Corinne Gehrig, Gipsy Lopez, Albert Schinzel, James Lespinasse, Armand Bottani, Sophie Dahoun, Laurence Taine, Martine Doco-Fenzy, Pascale Cornillet-Lefèbvre, Anna Pelet, Stanislas Lyonnet, Annick Toutain, Laurence Colleaux, Jürgen Horst, Ingo Kennerknecht, Nobuaki Wakamatsu, Maria Descartes, Judy C Franklin, Lina Florentin-Arar, Sophia Kitsiou, Emilie Aït Yahya-Graison, Maher Costantine, Pierre-Marie Sinet, Jean M Delabar and Stylianos E Antonarakis
Eur J Hum Genet 17: 454-466; advance online publication, November 12, 2008; doi:10.1038/ejhg.2008.214
Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis
Marielle Alders, Jet Bliek, Karin vd Lip, Ruud vd Bogaard and Marcel Mannens
Eur J Hum Genet 17: 467-473; advance online publication, October 15, 2008; doi:10.1038/ejhg.2008.197
Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family
Mounira Hmani-Aifa, Zeineb Benzina, Fareeha Zulfiqar, Houria Dhouib, Amber Shahzadi, Abdelmonem Ghorbel, Ahmed Rebaï, Peter Söderkvist, Sheikh Riazuddin, William J Kimberling and Hammadi Ayadi
Eur J Hum Genet 17: 474-482; advance online publication, October 15, 2008; doi:10.1038/ejhg.2008.167
Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11)
Paola Griseri, Yvonne Vos, Roberto Giorda, Stefania Gimelli, Silvana Beri, Giuseppe Santamaria, Guendalina Mognato, Robert M W Hofstra, Giorgio Gimelli and Isabella Ceccherini
Eur J Hum Genet 17: 483-490; advance online publication, October 29, 2008; doi:10.1038/ejhg.2008.191
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation
L Faivre, G Collod-Beroud, B Callewaert, A Child, C Binquet, E Gautier, B L Loeys, E Arbustini, K Mayer, M Arslan-Kirchner, C Stheneur, A Kiotsekoglou, P Comeglio, N Marziliano, J E Wolf, O Bouchot, P Khau-Van-Kien, C Beroud, M Claustres, C Bonithon-Kopp, P N Robinson, L Adès, J De Backer, P Coucke, U Francke, A De Paepe, G Jondeau and C Boileau
Eur J Hum Genet 17: 491-501; advance online publication, November 12, 2008; doi:10.1038/ejhg.2008.207
Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss
Ram Shankar Mani, Aparna Ganapathy, Rajeev Jalvi, C R Srikumari Srisailapathy, Vikas Malhotra, Shelly Chadha, Arun Agarwal, Arabandi Ramesh, Raghunath Rao Rangasayee and Anuranjan Anand
Eur J Hum Genet 17: 502-509; advance online publication, October 22, 2008; doi:10.1038/ejhg.2008.179
Noncanonical and canonical splice sites: a novel mutation at the rare noncanonical splice-donor cut site (IVS4+1A>G) of SEDL causes variable splicing isoforms in X-linked spondyloepiphyseal dysplasia tarda
Feng Xiong, Jianjun Gao, Jun Li, Yun Liu, Guoyin Feng, Wenli Fang, Hongfen Chang, Jiang Xie, Haitao Zheng, Tingyu Li and Lin He
Eur J Hum Genet 17: 510-516; advance online publication, November 12, 2008; doi:10.1038/ejhg.2008.219
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene
Nele Hilgert, Matthew J Huentelman, Ashley Q Thorburn, Erik Fransen, Nele Dieltjens, Malgorzata Mueller-Malesinska, Agnieszka Pollak, Agata Skorka, Jaroslaw Waligora, Rafal Ploski, Pierangela Castorina, Paola Primignani, Umberto Ambrosetti, Alessandra Murgia, Eva Orzan, Arti Pandya, Kathleen Arnos, Virginia Norris, Pavel Seeman, Petr Janousek, Delphine Feldmann, Sandrine Marlin, Françoise Denoyelle, Carla J Nishimura, Andreas Janecke, Doris Nekahm-Heis, Alessandro Martini, Elena Mennucci, Timea Tóth, Istvan Sziklai, Ignacio del Castillo, Felipe Moreno, Michael B Petersen, Vasiliki Iliadou, Mustafa Tekin, Armagan Incesulu, Ewa Nowakowska, Jerzy Bal, Paul Van de Heyning, Anne-Françoise Roux, Catherine Blanchet, Cyril Goizet, Guenaëlle Lancelot, Graça Fialho, Helena Caria, Xue Zhong Liu, Ouyang Xiaomei, Paul Govaerts, Karen Grønskov, Karianne Hostmark, Klemens Frei, Ingeborg Dhooge, Stephen Vlaeminck, Erdmute Kunstmann, Lut Van Laer, Richard JH Smith and Guy Van Camp
Eur J Hum Genet 17: 517-524; advance online publication, November 5, 2008; doi:10.1038/ejhg.2008.201
Promoter polymorphism of matrilin-1 gene predisposes to adolescent idiopathic scoliosis in a Chinese population
Zhijun Chen, Nelson L S Tang, Xingbin Cao, Di Qiao, Long Yi, Jack C Y Cheng and Yong Qiu
Eur J Hum Genet 17: 525-532; advance online publication, November 5, 2008; doi:10.1038/ejhg.2008.203
Short Reports
GENESTAT: an information portal for design and analysis of genetic association studies
Samuli Ripatti, Tim Becker, Heike Bickeböller, Annica Dominicus, Christine Fischer, Keith Humphreys, Gudrun Jonasdottir, Yves Moreau, Marita Olsson, Alexander Ploner, Nuala Sheehan, Kristel Van Steen, Max Baur, Cornelia van Duijn and Juni Palmgren
Eur J Hum Genet 17: 533-536; advance online publication, November 12, 2008; doi:10.1038/ejhg.2008.216
Variability in the use of CE-marked assays for in vitro diagnostics of CFTR gene mutations in European genetic testing laboratories
Jana Camajova, Sarah Berwouts, Gert Matthijs, Milan Macek Jr and Elisabeth Dequeker
Eur J Hum Genet 17: 537-540; advance online publication, December 3, 2008; doi:10.1038/ejhg.2008.209
