TABLE OF CONTENTS
Volume 17, Issue 5 (May 2009)
News and Commentary
Apo E and hyperlipidemia type III
Unraveling hyperlipidemia type III (dysbetalipoproteinemia), slowly FREE
Juergen R Schaefer
Eur J Hum Genet 17: 541-542; advance online publication, November 26, 2008; doi:10.1038/ejhg.2008.222
Viewpoint
Dystrophia myotonia: why focus on foci?
R P Junghans
Eur J Hum Genet 17: 543-553; advance online publication, January 28, 2009; doi:10.1038/ejhg.2008.227
Articles
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15
Lance Doucette, Nancy D Merner, Sandra Cooke, Elizabeth Ives, Dante Galutira, Vanessa Walsh, Tom Walsh, Linda MacLaren, Tracey Cater, Bridget Fernandez, Jane S Green, Edward R Wilcox, Larry Shotland, X C Li, Ming Lee, Mary-Claire King and Terry-Lynn Young
Eur J Hum Genet 17: 554-564; advance online publication, December 24, 2008; doi:10.1038/ejhg.2008.231
A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects
Beyhan Tuysuz, Rebecca Mosig, Gürkan Altun, Selim Sancak, Marc J Glucksman and John A Martignetti
Eur J Hum Genet 17: 565-572; advance online publication, November 5, 2008; doi:10.1038/ejhg.2008.204
Interstitial deletion of 6q25.2–q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss
Sandesh Chakravarthy Sreenath Nagamani, Ayelet Erez, Christine Eng, Zhishuo Ou, Craig Chinault, Laura Workman, James Coldwell, Pawel Stankiewicz, Ankita Patel, James R Lupski and Sau Wai Cheung
Eur J Hum Genet 17: 573-581; advance online publication, November 26, 2008; doi:10.1038/ejhg.2008.220
A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome
Deniz Kanber, Jacques Giltay, Dagmar Wieczorek, Corinna Zogel, Ron Hochstenbach, Almuth Caliebe, Alma Kuechler, Bernhard Horsthemke and Karin Buiting
Eur J Hum Genet 17: 582-590; advance online publication, December 10, 2008; doi:10.1038/ejhg.2008.232
A targeted population carrier screening program for severe and frequent genetic diseases in Israel
Joël Zlotogora, Rivka Carmi, Boaz Lev and Stavit A Shalev
Eur J Hum Genet 17: 591-597; advance online publication, December 24, 2008; doi:10.1038/ejhg.2008.241
How to tackle the diagnosis of limb-girdle muscular dystrophy 2A
Marina Fanin, Anna Chiara Nascimbeni, Elisabetta Tasca and Corrado Angelini
Eur J Hum Genet 17: 598-603; advance online publication, October 15, 2008; doi:10.1038/ejhg.2008.193
Mutation analysis of a large Chinese pedigree with congenital preaxial polydactyly
Hui Li, Cheng-Ye Wang, Jia-Xin Wang, Gui-Sheng Wu, Ping Yu, Xiao-Yi Yan, Yong-Gang Chen, Lu-Hang Zhao and Ya-Ping Zhang
Eur J Hum Genet 17: 604-610; advance online publication, December 10, 2008; doi:10.1038/ejhg.2008.240
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome
Jet Bliek, Gaetano Verde, Jonathan Callaway, Saskia M Maas, Agostina De Crescenzo, Angela Sparago, Flavia Cerrato, Silvia Russo, Serena Ferraiuolo, Maria Michela Rinaldi, Rita Fischetto, Faustina Lalatta, Lucio Giordano, Paola Ferrari, Maria Vittoria Cubellis, Lidia Larizza, I Karen Temple, Marcel M A M Mannens, Deborah J G Mackay and Andrea Riccio
Eur J Hum Genet 17: 611-619; advance online publication, December 17, 2008; doi:10.1038/ejhg.2008.233
The expression of type III hyperlipoproteinemia: involvement of lipolysis genes
Peter Henneman, Femke van der Sman-de Beer, Payman Hanifi Moghaddam, Petra Huijts, Anton FH Stalenhoef, John JP Kastelein, Cornelia M van Duijn, Louis M Havekes, Rune R Frants, Ko Willems van Dijk and Augustinus HM Smelt
Eur J Hum Genet 17: 620-628; advance online publication, November 26, 2008; doi:10.1038/ejhg.2008.202
MTHFR 677 C>T and 1298 A>C polymorphisms and the age of onset of colorectal cancer in hereditary nonpolyposis colorectal cancer
Stuart G Reeves, Cliff Meldrum, Claire Groombridge, Allan D Spigelman, Janina Suchy, Grzegorz Kurzawski, Jan Lubinski, Patrick McElduff and Rodney J Scott
Eur J Hum Genet 17: 629-635; advance online publication, January 21, 2009; doi:10.1038/ejhg.2008.239
Significant evidence for linkage to chromosome 5q13 in a genome-wide scan for asthma in an extended pedigree resource
Craig C Teerlink, Nicola J Camp, Aruna Bansal, Robert Crapo, Dana Hughes, Edward Kort, Kerry Rowe and Lisa A Cannon-Albright
Eur J Hum Genet 17: 636-643; advance online publication, December 17, 2008; doi:10.1038/ejhg.2008.236
A composite-likelihood approach for identifying polymorphisms that are potentially directly associated with disease
Joanna M Biernacka and Heather J Cordell
Eur J Hum Genet 17: 644-650; advance online publication, December 17, 2008; doi:10.1038/ejhg.2008.242
Breakpoint characterization of a novel 
59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance
Linda Köhn, Sara J Bowne, Lori S Sullivan, Stephen P Daiger, Marie SI Burstedt, Konstantin Kadzhaev, Ola Sandgren and Irina Golovleva
Eur J Hum Genet 17: 651-655; advance online publication, December 3, 2008; doi:10.1038/ejhg.2008.223
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy
Alexey Shatunov, Montse Olivé, Zagaa Odgerel, Christine Stadelmann-Nessler, Kerstin Irlbacher, Frank van Landeghem, Munkhuu Bayarsaikhan, Hee-Suk Lee, Bertrand Goudeau, Patrick F Chinnery, Volker Straub, David Hilton-Jones, Maxwell S Damian, Anna Kaminska, Patrick Vicart, Kate Bushby, Marinos C Dalakas, Nyamkhishig Sambuughin, Isidro Ferrer, Hans H Goebel and Lev G Goldfarb
Eur J Hum Genet 17: 656-663; advance online publication, December 3, 2008; doi:10.1038/ejhg.2008.226
Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect
Elena A Bliznetz, Svetlana M Tverskaya, Rena A Zinchenko, Anna V Abrukova, Ekaterina N Savaskina, Maxim V Nikulin, Alexander G Kirillov, Evgeny K Ginter and Alexander V Polyakov
Eur J Hum Genet 17: 664-672; advance online publication, January 28, 2009; doi:10.1038/ejhg.2008.234
Impact of inbreeding on fertility in a pre-industrial population
Alexandre Robert, Bruno Toupance, Marc Tremblay and Evelyne Heyer
Eur J Hum Genet 17: 673-681; advance online publication, December 17, 2008; doi:10.1038/ejhg.2008.237
Short Reports
GAB2 is not associated with late-onset Alzheimer's disease in Japanese
Akinori Miyashita, Hiroyuki Arai, Takashi Asada, Masaki Imagawa, Mikio Shoji, Susumu Higuchi, Katsuya Urakami, Shinichi Toyabe, Kohei Akazawa, Ichiro Kanazawa, Yasuo Ihara and Ryozo Kuwano
Eur J Hum Genet 17: 682-686; advance online publication, October 15, 2008; doi:10.1038/ejhg.2008.181
A 15q13.3 microdeletion segregating with autism
Alistair T Pagnamenta, Kirsty Wing, Elham Sadighi Akha, Samantha JL Knight, Sven Bölte, Gabriele Schmötzer, Eftichia Duketis, Fritz Poustka, Sabine M Klauck, Annemarie Poustka, Jiannis Ragoussis, Anthony J Bailey and Anthony P Monaco and the International Molecular Genetic Study of Autism Consortium (IMGSAC)
Eur J Hum Genet 17: 687-692; advance online publication, December 3, 2008; doi:10.1038/ejhg.2008.228
The Etruscan timeline: a recent Anatolian connection
Francesca Brisighelli, Cristian Capelli, Vanesa Álvarez-Iglesias, Valerio Onofri, Giorgio Paoli, Sergio Tofanelli, Ángel Carracedo, Vincenzo L Pascali and Antonio Salas
Eur J Hum Genet 17: 693-696; advance online publication, December 3, 2008; doi:10.1038/ejhg.2008.224
Corrigendum
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy FREE
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 CJ Hamel, Hans van Bokhoven and Arjan PM de Brouwer
Eur J Hum Genet 17: 697; doi:10.1038/ejhg.2008.262
