TABLE OF CONTENTS
Volume 17, Issue 6 (June 2009)
Practical Genetics |
Policy |
Review |
Letter |
Articles |
Short Reports |
Erratum
News and Commentary
Confirmation of MET gene association with austism
When linkage signal for autism MET candidate gene FREE
Daniel B Campbell
Eur J Hum Genet 17: 699-700; advance online publication, November 12, 2008; doi:10.1038/ejhg.2008.217
LIS1 and DCX MLPA
Listen carefully: LIS1 and DCX MLPA in lissencephaly and subcortical band heterotopia FREE
Martin B Delatycki and Richard J Leventer
Eur J Hum Genet 17: 701-702; advance online publication, December 3, 2008; doi:10.1038/ejhg.2008.230
Practical Genetics
Charcot–Marie–Tooth disease FREE
Kinga Szigeti and James R Lupski
Eur J Hum Genet 17: 703-710; advance online publication, March 11, 2009; doi:10.1038/ejhg.2009.31
Policy
Genetic testing in asymptomatic minors
Background considerations towards ESHG Recommendations FREE
Pascal Borry, Gerry Evers-Kiebooms, Martina C Cornel, Angus Clarke and Kris Dierickx on behalf of the Public and Professional Policy Committee (PPPC) of the European Society of Human Genetics (ESHG)
Eur J Hum Genet 17: 711-719; advance online publication, March 11, 2009; doi:10.1038/ejhg.2009.25
Genetic testing in asymptomatic minors: recommendations of the European Society of Human Genetics FREE
Eur J Hum Genet 17: 720-721; advance online publication, March 11, 2009; doi:10.1038/ejhg.2009.26
Review
Breast cancer susceptibility: current knowledge and implications for genetic counselling
Tim Ripperger, Dorothea Gadzicki, Alfons Meindl and Brigitte Schlegelberger
Eur J Hum Genet 17: 722-731; advance online publication, December 17, 2008; doi:10.1038/ejhg.2008.212
Letter
EuroGentest patient information leaflets: a free resource available in over 20 languages
Celine Lewis, Alastair Kent, Heather Skirton and Domenico Coviello
Eur J Hum Genet 17: 732; advance online publication, March 4, 2009; doi:10.1038/ejhg.2009.20
Articles
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations
Maria Lisa Dentici, Anna Sarkozy, Francesca Pantaleoni, Claudio Carta, Francesca Lepri, Rosangela Ferese, Viviana Cordeddu, Simone Martinelli, Silvana Briuglia, Maria Cristina Digilio, Giuseppe Zampino, Marco Tartaglia and Bruno Dallapiccola
Eur J Hum Genet 17: 733-740; advance online publication, January 21, 2009; doi:10.1038/ejhg.2008.256
Rational diagnostic strategy for Zellweger syndrome spectrum patients
Cindy Krause, Hendrik Rosewich and Jutta Gärtner
Eur J Hum Genet 17: 741-748; advance online publication, January 14, 2009; doi:10.1038/ejhg.2008.252
MET and autism susceptibility: family and case–control studies
Inês Sousa, Taane G Clark, Claudio Toma, Kazuhiro Kobayashi, Maja Choma, Richard Holt, Nuala H Sykes, Janine A Lamb, Anthony J Bailey, Agatino Battaglia, Elena Maestrini and Anthony P Monaco International Molecular Genetic Study of Autism Consortium (IMGSAC)
Eur J Hum Genet 17: 749-758; advance online publication, November 12, 2008; doi:10.1038/ejhg.2008.215
Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping
Petr Divina, Andrea Kvitkovicova, Emanuele Buratti and Igor Vorechovsky
Eur J Hum Genet 17: 759-765; advance online publication, January 14, 2009; doi:10.1038/ejhg.2008.257
Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients
Delia Lorenz, Stephan Klebe, Giovanni Stevanin, Sandra Thier, Almut Nebel, Josué Feingold, Henrik Frederiksen, Elodie Denis, Kaare Christensen, Stefan Schreiber, Alexis Brice, Günther Deuschl and Alexandra Dürr
Eur J Hum Genet 17: 766-773; advance online publication, December 17, 2008; doi:10.1038/ejhg.2008.243
The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P
Sun J Choi, Mary L Marazita, P Suzanne Hart, Pawel P Sulima, L Leigh Field, Toby Goldstein McHenry, Manika Govil, Margaret E Cooper, Ariadne Letra, Renato Menezes, Somnya Narayanan, Maria Adela Mansilla, José M Granjeiro, Alexandre R Vieira, Andrew C Lidral, Jeffrey C Murray and Thomas C Hart
Eur J Hum Genet 17: 774-784; advance online publication, December 17, 2008; doi:10.1038/ejhg.2008.245
Gains in power for exhaustive analyses of haplotypes using variable-sized sliding window strategy: a comparison of association-mapping strategies
Yanfang Guo, Jian Li, Aaron J Bonham, Yuping Wang and Hongwen Deng
Eur J Hum Genet 17: 785-792; advance online publication, December 17, 2008; doi:10.1038/ejhg.2008.244
Variable number of tandem repeat polymorphisms of DRD4: re-evaluation of selection hypothesis and analysis of association with schizophrenia
Eiji Hattori, Mizuho Nakajima, Kazuo Yamada, Yoshimi Iwayama, Tomoko Toyota, Naruya Saitou and Takeo Yoshikawa
Eur J Hum Genet 17: 793-801; advance online publication, December 17, 2008; doi:10.1038/ejhg.2008.247
Global similarity with local differences in linkage disequilibrium between the Dutch and HapMap–CEU populations
Luba Pardo, Zoltán Bochdanovits, Eco de Geus, Jouke J Hottenga, Patrick Sullivan, Danielle Posthuma, Brenda W J H Penninx, Dorret Boomsma and Peter Heutink
Eur J Hum Genet 17: 802-810; advance online publication, January 7, 2009; doi:10.1038/ejhg.2008.248
Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome)
Kim L McBride, Gloria A Zender, Sara M Fitzgerald-Butt, Daniel Koehler, Andres Menesses-Diaz, Susan Fernbach, Kwanghyuk Lee, Jeffrey A Towbin, Suzanne Leal and John W Belmont
Eur J Hum Genet 17: 811-819; advance online publication, January 14, 2009; doi:10.1038/ejhg.2008.255
Y-chromosomal evidence of the cultural diffusion of agriculture in southeast Europe
Vincenza Battaglia, Simona Fornarino, Nadia Al-Zahery, Anna Olivieri, Maria Pala, Natalie M Myres, Roy J King, Siiri Rootsi, Damir Marjanovic, Dragan Primorac, Rifat Hadziselimovic, Stojko Vidovic, Katia Drobnic, Naser Durmishi, Antonio Torroni, A Silvana Santachiara-Benerecetti, Peter A Underhill and Ornella Semino
Eur J Hum Genet 17: 820-830; advance online publication, December 24, 2008; doi:10.1038/ejhg.2008.249
Maternal transmission effects of the PAX genes among cleft case–parent trios from four populations
Jae Woong Sull, Kung-Yee Liang, Jacqueline B Hetmanski, Margaret Daniele Fallin, Roxanne G Ingersoll, Jiwan Park, Yah-Huei Wu-Chou, Philip K Chen, Samuel S Chong, Felicia Cheah, Vincent Yeow, Beyoung Yun Park, Sun Ha Jee, Ethylin W Jabs, Richard Redett, Alan F Scott and Terri H Beaty
Eur J Hum Genet 17: 831-839; advance online publication, January 14, 2009; doi:10.1038/ejhg.2008.250
Short Reports
MYO9B polymorphisms in multiple sclerosis
Anu Kemppinen, Minna Suvela, Pentti J Tienari, Irina Elovaara, Keijo Koivisto, Tuula Pirttilä, Mauri Reunanen, Ilkka Rautakorpi, Jan Hillert, Frida Lundmark, Annette Oturai, Lars Ryder, Hanne F Harbo, Elisabeth G Celius, Aarno Palotie, Mark Daly, Leena Peltonen and Janna Saarela
Eur J Hum Genet 17: 840-843; advance online publication, January 14, 2009; doi:10.1038/ejhg.2008.251
IFIH1-GCA-KCNH7 locus is not associated with genetic susceptibility to multiple sclerosis in French patients
Nicolas Couturier, Pierre-Antoine Gourraud, Isabelle Cournu-Rebeix, Claire Gout, Florence Bucciarelli, Gilles Edan, Marie-Claude Babron, Françoise Clerget-Darpoux, Michel Clanet, Bertrand Fontaine and David Brassat
Eur J Hum Genet 17: 844-847; advance online publication, January 21, 2009; doi:10.1038/ejhg.2008.259
Moors and Saracens in Europe: estimating the medieval North African male legacy in southern Europe
Cristian Capelli, Valerio Onofri, Francesca Brisighelli, Ilaria Boschi, Francesca Scarnicci, Mara Masullo, Gianmarco Ferri, Sergio Tofanelli, Adriano Tagliabracci, Leonor Gusmao, Antonio Amorim, Francesco Gatto, Mirna Kirin, Davide Merlitti, Maria Brion, Alejandro Blanco Verea, Valentino Romano, Francesco Cali and Vincenzo Pascali
Eur J Hum Genet 17: 848-852; advance online publication, January 21, 2009; doi:10.1038/ejhg.2008.258
Erratum
Y-chromosomal evidence of the cultural diffusion of agriculture in southeast Europe FREE
Vincenza Battaglia, Simona Fornarino, Nadia Al-Zahery, Anna Olivieri, Maria Pala, Natalie M Myres, Roy J King, Siiri Rootsi, Damir Marjanovic, Dragan Primorac, Rifat Hadziselimovic, Stojko Vidovic, Katia Drobnic, Naser Durmishi, Antonio Torroni, A Silvana Santachiara-Benerecetti, Peter A Underhill and Ornella Semino
Eur J Hum Genet 17: 853; doi:10.1038/ejhg.2009.21
