TABLE OF CONTENTS
Volume 17, Issue 1 (January 2009)
News and Commentary
Imprinting, Small Babies and Assisted Reproduction: Genomic imprinting, small babies and assisted reproduction FREE
David J Amor
Eur J Hum Genet 17: 1-2; advance online publication, October 22, 2008; doi:10.1038/ejhg.2008.199
Practical Genetics
Prader–Willi syndrome FREE
Suzanne B Cassidy and Daniel J Driscoll
Eur J Hum Genet 17: 3-13; advance online publication, September 10, 2008; doi:10.1038/ejhg.2008.165
Articles
Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3) FREE
Osama Alsmadi, Brian F Meyer, Fowzan Alkuraya, Salma Wakil, Fadi Alkayal, Haya Al-Saud, Khushnooda Ramzan and MoeenAldeen Al-Sayed
Eur J Hum Genet 17: 14-21; advance online publication, August 13, 2008; doi:10.1038/ejhg.2008.141
Low frequency of imprinting defects in ICSI children born small for gestational age FREE
Deniz Kanber, Karin Buiting, Michael Zeschnigk, Michael Ludwig and Bernhard Horsthemke
Eur J Hum Genet 17: 22-29; advance online publication, October 22, 2008; doi:10.1038/ejhg.2008.177
Identification of ectodysplasin-A receptor gene deletion at 2q12.2 and a potential autosomal MR locus FREE
Bradley L Griggs, Sydney Ladd, Amy Decker, Barbara R DuPont, Alexander Asamoah and Anand K Srivastava
Eur J Hum Genet 17: 30-36; advance online publication, October 15, 2008; doi:10.1038/ejhg.2008.183
Transmitted duplication of 8p23.1–8p23.2 associated with speech delay, autism and learning difficulties FREE
Mary Glancy, Angela Barnicoat, Rajan Vijeratnam, Sharon de Souza, Joanne Gilmore, Shuwen Huang, Viv K Maloney, N Simon Thomas, David J Bunyan, Ann Jackson and John C K Barber
Eur J Hum Genet 17: 37-43; advance online publication, August 20, 2008; doi:10.1038/ejhg.2008.133
Breakpoint mapping and complete analysis of meiotic segregation patterns in three men heterozygous for paracentric inversions FREE
Samarth Bhatt, Kamran Moradkhani, Kristin Mrasek, Jacques Puechberty, Marina Manvelyan, Friederike Hunstig, Genevieve Lefort, Anja Weise, James Lespinasse, Pierre Sarda, Thomas Liehr, Samir Hamamah and Franck Pellestor
Eur J Hum Genet 17: 44-50; advance online publication, August 6, 2008; doi:10.1038/ejhg.2008.144
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations FREE
Els Dequeker, Manfred Stuhrmann, Michael A Morris, Teresa Casals, Carlo Castellani, Mireille Claustres, Harry Cuppens, Marie des Georges, Claude Ferec, Milan Macek, Pier-Franco Pignatti, Hans Scheffer, Marianne Schwartz, Michal Witt, Martin Schwarz and Emmanuelle Girodon
Eur J Hum Genet 17: 51-65; advance online publication, August 6, 2008; doi:10.1038/ejhg.2008.136
Problems assessing uptake of Huntington disease predictive testing and a proposed solution FREE
Roslyn J Tassicker, Betty Teltscher, M Kaye Trembath, Veronica Collins, Leslie J Sheffield, Edmond Chiu, Lyle Gurrin and Martin B Delatycki
Eur J Hum Genet 17: 66-70; advance online publication, July 30, 2008; doi:10.1038/ejhg.2008.142
Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat FREE
Mariona Font-Llitjós, Benjamín Rodríguez-Santiago, Meritxell Espino, Ruth Sillué, Sandra Mañas, Laia Gómez, Luis A Pérez-Jurado, Manuel Palacín and Virginia Nunes
Eur J Hum Genet 17: 71-79; advance online publication, August 20, 2008; doi:10.1038/ejhg.2008.145
An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians FREE
Inga Ebermann, Robert K Koenekoop, Irma Lopez, Lara Bou-Khzam, Renée Pigeon and Hanno J Bolz
Eur J Hum Genet 17: 80-84; advance online publication, July 30, 2008; doi:10.1038/ejhg.2008.143
LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance FREE
Christine LH Snozek, Susan A Lagerstedt, Teck K Khoo, Melvyn Rubenfire, William L Isley, Laura J Train and Linnea M Baudhuin
Eur J Hum Genet 17: 85-90; advance online publication, July 23, 2008; doi:10.1038/ejhg.2008.138
Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome FREE
Cornelia Di Gaetano, Nicoletta Cerutti, Francesca Crobu, Carlo Robino, Serena Inturri, Sarah Gino, Simonetta Guarrera, Peter A Underhill, Roy J King, Valentino Romano, Francesco Cali, Mauro Gasparini, Giuseppe Matullo, Alfredo Salerno, Carlo Torre and Alberto Piazza
Eur J Hum Genet 17: 91-99; advance online publication, August 6, 2008; doi:10.1038/ejhg.2008.120
Variation near complement factor I is associated with risk of advanced AMD FREE
Jesen A Fagerness, Julian B Maller, Benjamin M Neale, Robyn C Reynolds, Mark J Daly and Johanna M Seddon
Eur J Hum Genet 17: 100-104; advance online publication, August 6, 2008; doi:10.1038/ejhg.2008.140
Dual-allele dipstick assay for genotyping single nucleotide polymorphisms by primer extension reaction FREE
Jessica K Konstantou, Penelope C Ioannou and Theodore K Christopoulos
Eur J Hum Genet 17: 105-111; advance online publication, August 6, 2008; doi:10.1038/ejhg.2008.139
Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples FREE
Diane Van Opstal, Marjan Boter, Danielle de Jong, Cardi van den Berg, Hennie T Brüggenwirth, Hajo I J Wildschut, Annelies de Klein and Robert-Jan H Galjaard
Eur J Hum Genet 17: 112-121; advance online publication, September 10, 2008; doi:10.1038/ejhg.2008.161
Short Reports
Re-assigning the DFNB33 locus to chromosome 10p11.23–q21.1 FREE
Hanen Belguith, Saber Masmoudi, Myrna Medlej-Hashim, Eliane Chouery, Dominique Weil, Hammadi Ayadi, Christine Petit and André Mégarbané
Eur J Hum Genet 17: 122-124; advance online publication, September 10, 2008; doi:10.1038/ejhg.2008.155
An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4 FREE
Kimia Kahrizi, Hossein Najmabadi, Roxana Kariminejad, Payman Jamali, Mahdi Malekpour, Masoud Garshasbi, Hans Hilger Ropers, Andreas Walter Kuss and Andreas Tzschach
Eur J Hum Genet 17: 125-128; advance online publication, September 10, 2008; doi:10.1038/ejhg.2008.159
Wolf–Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions FREE
Hannelie Engbers, Jasper J van der Smagt, Ruben van 't Slot, Joris R Vermeesch, Ron Hochstenbach and Martin Poot
Eur J Hum Genet 17: 129-132; advance online publication, October 1, 2008; doi:10.1038/ejhg.2008.168
Misleading behavioural phenotype with adenylosuccinate lyase deficiency FREE
Cyril Gitiaux, Irène Ceballos-Picot, Sandrine Marie, Vassili Valayannopoulos, Marlène Rio, Séverine Verrieres, Jean François Benoist, Marie Françoise Vincent, Isabelle Desguerre and Nadia Bahi-Buisson
Eur J Hum Genet 17: 133-136; advance online publication, October 1, 2008; doi:10.1038/ejhg.2008.174
