TABLE OF CONTENTS

Volume 17, Issue 11 (November 2009)

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Obituary

JEAN B DAUSSET, 19 OCTOBER 1916–6 JUNE 2009

Jean-Louis Mandel, Mark Lathrop and Howard M Cann

Eur J Hum Genet 17: 1365-1366; doi:10.1038/ejhg.2009.150

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Practical Genetics

Angelman syndrome (AS, MIM 105830) FREE

Griet Van Buggenhout and Jean-Pierre Fryns

Eur J Hum Genet 17: 1367-1373; advance online publication, May 20, 2009; doi:10.1038/ejhg.2009.67

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Policy

Council of Europe adopts protocol on genetic testing for health purposes

Laurence Lwoff

Eur J Hum Genet 17: 1374-1377; advance online publication, July 1, 2009; doi:10.1038/ejhg.2009.84

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Letter

Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome

Yann Fichou, Nadia Bahi-Buisson, Juliette Nectoux, Jamel Chelly, Delphine Héron, Laurence Cuisset and Thierry Bienvenu

Eur J Hum Genet 17: 1378-1380; advance online publication, May 27, 2009; doi:10.1038/ejhg.2009.82

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Articles

Risk-reducing surgery for ovarian cancer: outcomes in 300 surgeries suggest a low peritoneal primary risk

D Gareth R Evans, Richard Clayton, Paul Donnai, Andrew Shenton and Fiona Lalloo

Eur J Hum Genet 17: 1381-1385; advance online publication, April 15, 2009; doi:10.1038/ejhg.2009.60

Diagnostic value of post-heparin lipase testing in detecting common genetic variants in the LPL and LIPC genes

Mandy van Hoek, Geesje M Dallinga-Thie, Ewout W Steyerberg and Eric J G Sijbrands

Eur J Hum Genet 17: 1386-1393; advance online publication, April 15, 2009; doi:10.1038/ejhg.2009.61

A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first

Antoinet CJ Gijsbers, Janet YK Lew, Cathy AJ Bosch, Janneke HM Schuurs-Hoeijmakers, Arie van Haeringen, Nicolette S den Hollander, Sarina G Kant, Emilia K Bijlsma, Martijn H Breuning, Egbert Bakker and Claudia AL Ruivenkamp

Eur J Hum Genet 17: 1394-1402; advance online publication, May 13, 2009; doi:10.1038/ejhg.2009.74

Preimplantation genetic diagnosis for myotonic dystrophy type 1: upon request to child

Marjan De Rademaeker, Willem Verpoest, Martine De Rycke, Sara Seneca, Karen Sermon, Sonja Desmyttere, Maryse Bonduelle, Josianne Van der Elst, Paul Devroey and Inge Liebaers

Eur J Hum Genet 17: 1403-1410; advance online publication, April 15, 2009; doi:10.1038/ejhg.2009.56

Homozygosity for a null allele of COL3A1 results in recessive Ehlers–Danlos syndrome

Aurélie Plancke, Muriel Holder-Espinasse, Valérie Rigau, Sylvie Manouvrier, Mireille Claustres and Philippe Khau Van Kien

Eur J Hum Genet 17: 1411-1416; advance online publication, May 20, 2009; doi:10.1038/ejhg.2009.76

Novel SOX2 partner-factor domain mutation in a four-generation family

Marija Mihelec, Peter Abraham, Kate Gibson, Renata Krowka, Rachel Susman, Rebecca Storen, Yongjuan Chen, Jenny Donald, Patrick PL Tam, John R Grigg, Maree Flaherty, Glen A Gole and Robyn V Jamieson

Eur J Hum Genet 17: 1417-1422; advance online publication, May 27, 2009; doi:10.1038/ejhg.2009.79

Separation of the PROX1 gene from upstream conserved elements in a complex inversion/translocation patient with hypoplastic left heart

Harinder K Gill, Sian R Parsons, Cosma Spalluto, Angela F Davies, Victoria J Knorz, Clare EG Burlinson, Bee Ling Ng, Nigel P Carter, Caroline Mackie Ogilvie, David I Wilson and Roland G Roberts

Eur J Hum Genet 17: 1423-1431; advance online publication, May 27, 2009; doi:10.1038/ejhg.2009.91

Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism

Anneke T van Silfhout, Peter C van den Akker, Trijnie Dijkhuizen, Joke B G M Verheij, Maran J W Olderode-Berends, Klaas Kok, Birgit Sikkema-Raddatz and Conny M A van Ravenswaaij-Arts

Eur J Hum Genet 17: 1432-1438; advance online publication, April 29, 2009; doi:10.1038/ejhg.2009.72

Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA

Michela Barbaro, Antonio Balsamo, Britt Marie Anderlid, Anne Grethe Myhre, Monia Gennari, Annalisa Nicoletti, Maria Carla Pittalis, Mikael Oscarson and Anna Wedell

Eur J Hum Genet 17: 1439-1447; advance online publication, May 6, 2009; doi:10.1038/ejhg.2009.70

Phosphodiesterase 4D and 5-lipoxygenase activating protein genes and risk of ischemic stroke in Sardinians

Giovanni Quarta, Rosita Stanzione, Anna Evangelista, Bastianina Zanda, Emanuele Di Angelantonio, Simona Marchitti, Sara Di Castro, Marta Di Vavo, Massimo Volpe and Speranza Rubattu

Eur J Hum Genet 17: 1448-1453; advance online publication, May 6, 2009; doi:10.1038/ejhg.2009.71

A critical assessment of the factors affecting reporter gene assays for promoter SNP function: a reassessment of -308 TNF polymorphism function using a novel integrated reporter system

Mahdad Karimi, Lauren C Goldie, Mark N Cruickshank, Eric K Moses and Lawrence J Abraham

Eur J Hum Genet 17: 1454-1462; advance online publication, May 27, 2009; doi:10.1038/ejhg.2009.80

Expression of SNURFSNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesis

Michaela Wawrzik, Andrej-Nikolai Spiess, Ralf Herrmann, Karin Buiting and Bernhard Horsthemke

Eur J Hum Genet 17: 1463-1470; advance online publication, May 27, 2009; doi:10.1038/ejhg.2009.83

Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study

Virginie Caux-Moncoutier, Sabine Pagès-Berhouet, Dorothée Michaux, Bernard Asselain, Laurent Castéra, Antoine De Pauw, Bruno Buecher, Marion Gauthier-Villars, Dominique Stoppa-Lyonnet and Claude Houdayer

Eur J Hum Genet 17: 1471-1480; advance online publication, May 27, 2009; doi:10.1038/ejhg.2009.89

Functional identification of the promoter of SLC4A5, a gene associated with cardiovascular and metabolic phenotypes in the HERITAGE Family Study

Adrian M Stütz, Margarita Teran-Garcia, D C Rao, Treva Rice, Claude Bouchard and Tuomo Rankinen

Eur J Hum Genet 17: 1481-1489; advance online publication, April 22, 2009; doi:10.1038/ejhg.2009.64

Isolated populations as treasure troves in genetic epidemiology: the case of the Basques

Paolo Garagnani, Hafid Laayouni, Anna González-Neira, Martin Sikora, Donata Luiselli, Jaume Bertranpetit and Francesc Calafell

Eur J Hum Genet 17: 1490-1494; advance online publication, May 6, 2009; doi:10.1038/ejhg.2009.69

A heterozygote–homozygote test of Hardy–Weinberg equilibrium

Jin J Zhou, Kenneth Lange, Jeanette C Papp and Janet S Sinsheimer

Eur J Hum Genet 17: 1495-1500; advance online publication, April 15, 2009; doi:10.1038/ejhg.2009.57

The role of mitochondrial genome in essential hypertension in a Chinese Han population

Hai-Yan Zhu, Shi-Wen Wang, Lisa J Martin, Li Liu, Yan-Hua Li, Rui Chen, Lin Wang, Min-Lu Zhang and D Woodrow Benson

Eur J Hum Genet 17: 1501-1506; advance online publication, April 29, 2009; doi:10.1038/ejhg.2009.63

A genome-wide scan of 10 000 gene-centric variants and colorectal cancer risk

Emily Webb, Peter Broderick, Steven Lubbe, Ian Chandler, Ian Tomlinson and Richard S Houlston

Eur J Hum Genet 17: 1507-1514; advance online publication, May 27, 2009; doi:10.1038/ejhg.2009.92

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Short Reports

Human longevity and 11p15.5: a study in 1321 centenarians

Francesco Lescai, Helene Blanché, Almut Nebel, Marian Beekman, Mourad Sahbatou, Friederike Flachsbart, Eline Slagboom, Stefan Schreiber, Sandro Sorbi, Giuseppe Passarino and Claudio Franceschi

Eur J Hum Genet 17: 1515-1519; advance online publication, April 15, 2009; doi:10.1038/ejhg.2009.54

J1-M267 Y lineage marks climate-driven pre-historical human displacements

Sergio Tofanelli, Gianmarco Ferri, Kazima Bulayeva, Laura Caciagli, Valerio Onofri, Luca Taglioli, Oleg Bulayev, Ilaria Boschi, Milena Alù, Andrea Berti, Cesare Rapone, Giovanni Beduschi, Donata Luiselli, Alicia M Cadenas, Khalid Dafaallah Awadelkarim, Renato Mariani-Costantini, Nasr Eldin Elwali, Fabio Verginelli, Elena Pilli, Rene J Herrera, Leonor Gusmão, Giorgio Paoli and Cristian Capelli

Eur J Hum Genet 17: 1520-1524; advance online publication, April 15, 2009; doi:10.1038/ejhg.2009.58

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Book Review

Syndrome diagnosis on the ward

The difficulty to classify complex dysmorphic syndromes on the ward

Albert Schinzel

Eur J Hum Genet 17: 1525; doi:10.1038/ejhg.2009.105

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Erratum

Prevalence data on all Ghent features in a cross-sectional study of 87 adults with proven Marfan syndrome FREE

Svend Rand-Hendriksen, Rigmor Lundby, Lena Tjeldhorn, Kai Andersen, Jon Offstad, Svein Ove Semb, Hans-Jørgen Smith, Benedicte Paus and Odd Geiran

Eur J Hum Genet 17: 1526; doi:10.1038/ejhg.2009.65

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