Thursday, July 21, 2011

European Journal of Human Genetics - Table of Contents alert Volume 19 Issue 8


TABLE OF CONTENTS

Volume 19, Issue 8 (August 2011)

In this issue
Policy
Review
Articles
Short Reports
Clinical Utility Gene Cards
Book Review

Also new
AOP

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Policy

Top

Strengthening the reporting of genetic risk prediction studies: the GRIPS statement

A Cecile JW Janssens, John PA Ioannidis, Cornelia M van Duijn, Julian Little and Muin J Khoury for the GRIPS Group

Eur J Hum Genet 2011 19: 833-836; advance online publication, March 16, 2011; 10.1038/ejhg.2011.25

Abstract | Full Text

Review

Top

Gene set analysis of SNP data: benefits, challenges, and future directions

Brooke L Fridley and Joanna M Biernacka

Eur J Hum Genet 2011 19: 837-843; advance online publication, April 13, 2011; 10.1038/ejhg.2011.57

Abstract | Full Text

Articles

Top

Clinical and functional data implicate the Arg(151)Ser variant of MSX1 in familial hypodontia

Munefumi Kamamoto, Junichiro Machida, Seishi Yamaguchi, Masashi Kimura, Takao Ono, Peter A Jezewski, Yujiro Higashi, Atsuo Nakayama, Kazuo Shimozato and Yoshihito Tokita

Eur J Hum Genet 2011 19: 844-850; advance online publication, March 30, 2011; 10.1038/ejhg.2011.47

Abstract | Full Text

The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly

Manèl Chograni, Imen Rejeb, Lamia Ben Jemaa, Myriam Châabouni and Habiba Chaabouni Bouhamed

Eur J Hum Genet 2011 19: 851-856; advance online publication, May 11, 2011; 10.1038/ejhg.2011.52

Abstract | Full Text

Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes

Jennifer Boyle, Malcolm Hawkins, David E Barton, Karen Meaney, Miriam Guitart, Anna O'Grady, Simon Tobi, Simon C Ramsden, Rob Elles, Elaine Gray, Paul Metcalfe and J Ross Hawkins

Eur J Hum Genet 2011 19: 857-864; advance online publication, May 18, 2011; 10.1038/ejhg.2011.59

Abstract | Full Text

New disease gene location and high genetic heterogeneity in idiopathic scoliosis

Patrick Edery, Patricia Margaritte-Jeannin, Bernard Biot, Audrey Labalme, Jean-Claude Bernard, Joëlle Chastang, Behrouz Kassai, Marie-Helene Plais, Florina Moldovan and Francoise Clerget-Darpoux

Eur J Hum Genet 2011 19: 865-869; advance online publication, March 16, 2011; 10.1038/ejhg.2011.31

Abstract | Full Text

Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation

Marjolijn C J Jongmans, Ineke van der Burgt, Peter M Hoogerbrugge, Kees Noordam, Helger G Yntema, Willy M Nillesen, Roland P Kuiper, Marjolijn JL Ligtenberg, Ad Geurts van Kessel, J Han JM van Krieken, Lambertus ALM Kiemeney and Nicoline Hoogerbrugge

Eur J Hum Genet 2011 19: 870-874; advance online publication, March 16, 2011; 10.1038/ejhg.2011.37

Abstract | Full Text

Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG)

C M Laine, B D Chung, M Susic, T Prescott, O Semler, T Fiskerstrand, P D'Eufemia, M Castori, M Pekkinen, E Sochett, W G Cole, C Netzer and O Mäkitie

Eur J Hum Genet 2011 19: 875-881; advance online publication, March 16, 2011; 10.1038/ejhg.2011.42

Abstract | Full Text

The genetic component of human longevity: analysis of the survival advantage of parents and siblings of Italian nonagenarians

Alberto Montesanto, Valeria Latorre, Marco Giordano, Cinzia Martino, Filippo Domma and Giuseppe Passarino

Eur J Hum Genet 2011 19: 882-886; advance online publication, March 16, 2011; 10.1038/ejhg.2011.40

Abstract | Full Text

Evaluation of Lynch syndrome modifier genes in 748 MMR mutation carriers

Solene Houlle, Françoise Charbonnier, Estelle Houivet, Julie Tinat, Marie-Pierre Buisine, Olivier Caron, Jacques Benichou, Stéphanie Baert-Desurmont and Thierry Frebourg

Eur J Hum Genet 2011 19: 887-892; advance online publication, March 16, 2011; 10.1038/ejhg.2011.44

Abstract | Full Text

Variable set enrichment analysis in genome-wide association studies

Wei Yang, Lisa de las Fuentes, Victor G Dávila-Román and C Charles Gu

Eur J Hum Genet 2011 19: 893-900; advance online publication, March 23, 2011; 10.1038/ejhg.2011.46

Abstract | Full Text

Meta-analysis of genome-wide association for migraine in six population-based European cohorts

Lannie Ligthart, Boukje de Vries, Albert V Smith, M Arfan Ikram, Najaf Amin, Jouke-Jan Hottenga, Stephany C Koelewijn, V Mathijs Kattenberg, Marleen HM de Moor, A Cecile JW Janssens, Yurii S Aulchenko, Ben A Oostra, Eco JC de Geus, Johannes H Smit, Frans G Zitman, André G Uitterlinden, Albert Hofman, Gonneke Willemsen, Dale R Nyholt, Grant W Montgomery, Gisela M Terwindt, Vilmundur Gudnason, Brenda WJH Penninx, Monique Breteler, Michel D Ferrari, Lenore J Launer, Cornelia M van Duijn, Arn MJM van den Maagdenberg and Dorret I Boomsma for the Dutch Icelandic migraine genetics consortium (DICE)

Eur J Hum Genet 2011 19: 901-907; advance online publication, March 30, 2011; 10.1038/ejhg.2011.48

Abstract | Full Text

Variants of gene for microsomal prostaglandin E2 synthase show association with disease and severe inflammation in rheumatoid arthritis

Marina Korotkova, Nina A Daha, Maria Seddighzadeh, Bo Ding, Anca I Catrina, Staffan Lindblad, Tom W J Huizinga, Rene E M Toes, Lars Alfredsson, Lars Klareskog, Per-Johan Jakobsson and Leonid Padyukov

Eur J Hum Genet 2011 19: 908-914; advance online publication, March 30, 2011; 10.1038/ejhg.2011.50

Abstract | Full Text

A novel approach for small sample size family-based association studies: sequential tests

Ozlem Ilk, Farid Rajabli, Dilay Ciglidag Dungul, Hilal Ozdag and Hakki Gokhan Ilk

Eur J Hum Genet 2011 19: 915-920; advance online publication, March 23, 2011; 10.1038/ejhg.2011.51

Abstract | Full Text

Short Reports

Top

Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes

Irene Madrigal, Mar Xunclà, Maria Isabel Tejada, Francisco Martínez, Isabel Fernández-Carvajal, Luís Alberto Pérez-Jurado, Laia Rodriguez-Revenga and Montserrat Milà

Eur J Hum Genet 2011 19: 921-923; advance online publication, March 23, 2011; 10.1038/ejhg.2011.41

Abstract | Full Text

Association of TH01 with human longevity revisited

Nicole von Wurmb-Schwark, Amke Caliebe, Thorsten Schwark, Rabea Kleindorp, Micaela Poetsch, Stefan Schreiber and Almut Nebel

Eur J Hum Genet 2011 19: 924-927; advance online publication, March 16, 2011; 10.1038/ejhg.2011.43

Abstract | Full Text

Cancer GAMAdb: database of cancer genetic associations from meta-analyses and genome-wide association studies

Sheri D Schully, Wei Yu, Victoria McCallum, Camilla B Benedicto, Linda M Dong, Anja Wulf, Melinda Clyne and Muin J Khoury

Eur J Hum Genet 2011 19: 928-930; advance online publication, April 13, 2011; 10.1038/ejhg.2011.53

Abstract | Full Text

Clinical Utility Gene Cards

Top

Clinical utility gene card for: hypertrophic cardiomyopathy (type 1–14)

Yigal M Pinto, Arthur AAM Wilde, Ingrid AW van Rijsingen, Imke Christiaans, Ronald H Lekanne Deprez and Perry M Elliott

Eur J Hum Genet 2011 19: ; advance online publication, January 26, 2011; 10.1038/ejhg.2010.243

Abstract | Full Text

Clinical utility gene card for: Gorlin syndrome

Lorenzo Lo Muzio, Lorenza Pastorino, Sonja Levanat, Vesna Musani, Mima Situm and Giovanna Bianchi Scarra

Eur J Hum Genet 2011 19: ; advance online publication, February 9, 2011; 10.1038/ejhg.2011.9

Abstract | Full Text

Clinical utility gene card for: Mowat–Wilson syndrome

Marcella Zollino, Livia Garavelli and Anita Rauch

Eur J Hum Genet 2011 19: ; advance online publication, February 23, 2011; 10.1038/ejhg.2011.12

Abstract | Full Text

Clinical utility gene card for: Gitelman syndrome

Nine VAM Knoers, Olivier Devuyst and Erik-Jan Kamsteeg

Eur J Hum Genet 2011 19: ; advance online publication, February 23, 2011; 10.1038/ejhg.2011.14

Abstract | Full Text

Clinical utility gene card for: Usher syndrome

Hanno J Bolz and Anne-Françoise Roux

Eur J Hum Genet 2011 19: ; advance online publication, March 9, 2011; 10.1038/ejhg.2011.15

Abstract | Full Text

Book Review

Top

Everything a health professional needs to know about genetics

Helga Toriello

Eur J Hum Genet 2011 19: 934; advance online publication, April 13, 2011; 10.1038/ejhg.2011.54

Abstract | Full Text

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