European Journal of Human Genetics - AOP - nature.com science feeds

On the origin of Y-chromosome haplogroup N1b

Boris Malyarchuk — 2009-06-17

On the origin of Y-chromosome haplogroup N1b

European Journal of Human Genetics advance online publication, June 17, 2009. doi:10.1038/ejhg.2009.100

Authors: Boris Malyarchuk & Miroslava Derenko

Reply to B Malyarchuk and M Derenko: a need for further investigation of Uralic and Siberian populations in the search for haplogroup N1b's origins

Sheyla Mirabal — 2009-06-17

Reply to B Malyarchuk and M Derenko: a need for further investigation of Uralic and Siberian populations in the search for haplogroup N1b's origins

European Journal of Human Genetics advance online publication, June 17, 2009. doi:10.1038/ejhg.2009.101

Authors: Sheyla Mirabal, Peter A Underhill & Rene J Herrera

Cell proliferation-related genetic polymorphisms and gastric cancer risk: systematic review and meta-analysis

Lei Gao — 2009-06-17

Cell proliferation-related genetic polymorphisms and gastric cancer risk: systematic review and meta-analysis

European Journal of Human Genetics advance online publication, June 17, 2009. doi:10.1038/ejhg.2009.102

Authors: Lei Gao, Alexandra Nieters & Hermann Brenner

Caveolinopathies: from the biology of caveolin-3 to human diseases

Elisabetta Gazzerro — 2009-07-08

Caveolinopathies: from the biology of caveolin-3 to human diseases

European Journal of Human Genetics advance online publication, July 8, 2009. doi:10.1038/ejhg.2009.103

Authors: Elisabetta Gazzerro, Federica Sotgia, Claudio Bruno, Michael P Lisanti & Carlo Minetti

HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing

Wenke Seifert — 2009-07-01

HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing

European Journal of Human Genetics advance online publication, July 1, 2009. doi:10.1038/ejhg.2009.104

Authors: Wenke Seifert, Julia Beninde, Katrin Hoffmann, Tom H Lindner, Christian Bassir, Fuat Aksu, Christoph Hübner, Nienke E Verbeek, Stefan Mundlos & Denise Horn

Beckwith–Wiedemann syndrome

Rosanna Weksberg — 2009-06-24

Beckwith–Wiedemann syndrome

European Journal of Human Genetics advance online publication, June 24, 2009. doi:10.1038/ejhg.2009.106

Authors: Rosanna Weksberg, Cheryl Shuman & J Bruce Beckwith

Association of FTO variants with BMI and fat mass in the self-contained population of Sorbs in Germany

Anke Tönjes — 2009-07-08

Association of FTO variants with BMI and fat mass in the self-contained population of Sorbs in Germany

European Journal of Human Genetics advance online publication, July 8, 2009. doi:10.1038/ejhg.2009.107

Authors: Anke Tönjes, Eleftheria Zeggini, Peter Kovacs, Yvonne Böttcher, Dorit Schleinitz, Kerstin Dietrich, Andrew P Morris, Beate Enigk, Nigel W Rayner, Moritz Koriath, Markus Eszlinger, Anu Kemppinen, Inga Prokopenko, Katrin Hoffmann, Daniel Teupser, Joachim Thiery, Knut Krohn, Mark I McCarthy & Michael Stumvoll

An atypical 7q11.23 deletion in a normal IQ Williams–Beuren syndrome patient

Giovanni Battista Ferrero — 2009-07-01

An atypical 7q11.23 deletion in a normal IQ Williams–Beuren syndrome patient

European Journal of Human Genetics advance online publication, July 1, 2009. doi:10.1038/ejhg.2009.108

Authors: Giovanni Battista Ferrero, Cédric Howald, Lucia Micale, Elisa Biamino, Bartolomeo Augello, Carmela Fusco, Maria Giuseppina Turturo, Serena Forzano, Alexandre Reymond & Giuseppe Merla

Triple X syndrome: a review of the literature

Maarten Otter — 2009-07-01

Triple X syndrome: a review of the literature

European Journal of Human Genetics advance online publication, July 1, 2009. doi:10.1038/ejhg.2009.109

Authors: Maarten Otter, Constance TRM Schrander-Stumpel & Leopold MG Curfs

Legacy of mutiny on the Bounty: founder effect and admixture on Norfolk Island

Stuart Macgregor — 2009-07-08

Legacy of mutiny on the Bounty: founder effect and admixture on Norfolk Island

European Journal of Human Genetics advance online publication, July 8, 2009. doi:10.1038/ejhg.2009.111

Authors: Stuart Macgregor, Claire Bellis, Rod A Lea, Hannah Cox, Tom Dyer, John Blangero, Peter M Visscher & Lyn R Griffiths

The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family

Erik F Hensen — 2009-07-08

The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family

European Journal of Human Genetics advance online publication, July 8, 2009. doi:10.1038/ejhg.2009.112

Authors: Erik F Hensen, Jeroen C Jansen, Maaike D Siemers, Jan C Oosterwijk, Annette HJT Vriends, Eleonora PM Corssmit, Jean-Pierre Bayley, Andel GL van der Mey, Cees J Cornelisse & Peter Devilee

Support for the involvement of complement factor I in age-related macular degeneration

Sarah Ennis — 2009-07-15

Support for the involvement of complement factor I in age-related macular degeneration

European Journal of Human Genetics advance online publication, July 15, 2009. doi:10.1038/ejhg.2009.113

Authors: Sarah Ennis, Jane Gibson, Angela J Cree, Andrew Collins & Andrew J Lotery

Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects

Esther Pomares — 2009-07-08

Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects

European Journal of Human Genetics advance online publication, July 8, 2009. doi:10.1038/ejhg.2009.114

Authors: Esther Pomares, Marina Riera, Jon Permanyer, Pilar Méndez, Joaquín Castro-Navarro, Ángeles Andrés-Gutiérrez, Gemma Marfany & Roser Gonzàlez-Duarte

Gene and pathway-based second-wave analysis of genome-wide association studies

Gang Peng — 2009-07-08

Gene and pathway-based second-wave analysis of genome-wide association studies

European Journal of Human Genetics advance online publication, July 8, 2009. doi:10.1038/ejhg.2009.115

Authors: Gang Peng, Li Luo, Hoicheong Siu, Yun Zhu, Pengfei Hu, Shengjun Hong, Jinying Zhao, Xiaodong Zhou, John D Reveille, Li Jin, Christopher I Amos & Momiao Xiong

SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR

Francesco Danilo Tiziano — 2009-07-15

SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR

European Journal of Human Genetics advance online publication, July 15, 2009. doi:10.1038/ejhg.2009.116

Authors: Francesco Danilo Tiziano, Anna Maria Pinto, Stefania Fiori, Rosa Lomastro, Sonia Messina, Claudio Bruno, Antonella Pini, Marika Pane, Adele D'Amico, Alessandro Ghezzo, Enrico Bertini, Eugenio Mercuri, Giovanni Neri & Christina Brahe

Specific epigenetic alterations of IGF2-H19 locus in spermatozoa from infertile men

Céline Chalas Boissonnas — 2009-07-08

Specific epigenetic alterations of IGF2-H19 locus in spermatozoa from infertile men

European Journal of Human Genetics advance online publication, July 8, 2009. doi:10.1038/ejhg.2009.117

Authors: Céline Chalas Boissonnas, Hafida El Abdalaoui, Virginie Haelewyn, Patricia Fauque, Jean Michel Dupont, Ivo Gut, Daniel Vaiman, Pierre Jouannet, Jörg Tost & Hélène Jammes

A comprehensive approach to haplotype-specific analysis by penalized likelihood

Jung-Ying Tzeng — 2009-07-08

A comprehensive approach to haplotype-specific analysis by penalized likelihood

European Journal of Human Genetics advance online publication, July 8, 2009. doi:10.1038/ejhg.2009.118

Authors: Jung-Ying Tzeng & Howard D Bondell

On the use of sibling recurrence risks to select environmental factors liable to interact with genetic risk factors

Rémi Kazma — 2009-07-08

On the use of sibling recurrence risks to select environmental factors liable to interact with genetic risk factors

European Journal of Human Genetics advance online publication, July 8, 2009. doi:10.1038/ejhg.2009.119

Authors: Rémi Kazma, Catherine Bonaïti-Pellié, Jill M Norris & Emmanuelle Génin

Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex

Martin Poot — 2009-07-22

Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex

European Journal of Human Genetics advance online publication, July 22, 2009. doi:10.1038/ejhg.2009.120

Authors: Martin Poot, Marc J Eleveld, Ruben van 't Slot, Hans Kristian Ploos van Amstel & Ron Hochstenbach

DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3

Shahid Yar Khan — 2009-07-15

DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3

European Journal of Human Genetics advance online publication, July 15, 2009. doi:10.1038/ejhg.2009.121

Authors: Shahid Yar Khan, Saima Riazuddin, Mohsin Shahzad, Nazir Ahmed, Ahmad Usman Zafar, Atteeq Ur Rehman, Robert J Morell, Andrew J Griffith, Zubair M Ahmed, Sheikh Riazuddin & Thomas B Friedman

In vitro readthrough of termination codons by gentamycin in the Stüve–Wiedemann Syndrome

Samuel Bellais — 2009-07-15

In vitro readthrough of termination codons by gentamycin in the Stüve–Wiedemann Syndrome

European Journal of Human Genetics advance online publication, July 15, 2009. doi:10.1038/ejhg.2009.122

Authors: Samuel Bellais, Carine Le Goff, Nathalie Dagoneau, Arnold Munnich & Valérie Cormier-Daire

Septo-optic dysplasia

Emma A Webb — 2009-07-22

Septo-optic dysplasia

European Journal of Human Genetics advance online publication, July 22, 2009. doi:10.1038/ejhg.2009.125

Authors: Emma A Webb & Mehul T Dattani

APOC3 deficiency: from mice to man

Marten H Hofker — 2009-07-22

APOC3 deficiency: from mice to man

European Journal of Human Genetics advance online publication, July 22, 2009. doi:10.1038/ejhg.2009.126

Author: Marten H Hofker

Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis

Gabriele Mues — 2009-07-22

Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis

European Journal of Human Genetics advance online publication, July 22, 2009. doi:10.1038/ejhg.2009.127

Authors: Gabriele Mues, Aubry Tardivel, Laure Willen, Hitesh Kapadia, Robyn Seaman, Sylvia Frazier-Bowers, Pascal Schneider & Rena N D'Souza

The candidate gene approach in asthma: what happens with the neighbours?

Naomi E Reijmerink — 2009-07-05

The candidate gene approach in asthma: what happens with the neighbours?

European Journal of Human Genetics advance online publication, August 5, 2009. doi:10.1038/ejhg.2009.128

Authors: Naomi E Reijmerink, Dirkje S Postma & Gerard H Koppelman

Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients

Sabrina Titze — 2009-07-29

Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients

European Journal of Human Genetics advance online publication, July 29, 2009. doi:10.1038/ejhg.2009.129

Authors: Sabrina Titze, Hartmut Peters, Sandra Währisch, Thomas Harder, Katrin Guse, Annegret Buske, Sigrid Tinschert & Anja Harder

Reply to Reijmerink et al

Sreekumar G Pillai — 2009-07-05

Reply to Reijmerink et al

European Journal of Human Genetics advance online publication, August 5, 2009. doi:10.1038/ejhg.2009.130

Author: Sreekumar G Pillai

Methionine synthase A2756G polymorphism and cancer risk: a meta-analysis

Ke Yu — 2009-10-14

Methionine synthase A2756G polymorphism and cancer risk: a meta-analysis

European Journal of Human Genetics advance online publication, October 14, 2009. doi:10.1038/ejhg.2009.131

Authors: Ke Yu, Jing Zhang, Jiyuan Zhang, Chao Dou, Shaohua Gu, Yi Xie, Yumin Mao & Chaoneng Ji

An integrated phenomic approach to multivariate allelic association

Sarah Elizabeth Medland — 2009-07-26

An integrated phenomic approach to multivariate allelic association

European Journal of Human Genetics advance online publication, August 26, 2009. doi:10.1038/ejhg.2009.133

Authors: Sarah Elizabeth Medland & Michael Churton Neale

The common biological basis for common complex diseases: evidence from lipoprotein lipase gene

Cui Xie — 2009-07-29

The common biological basis for common complex diseases: evidence from lipoprotein lipase gene

European Journal of Human Genetics advance online publication, July 29, 2009. doi:10.1038/ejhg.2009.134

Authors: Cui Xie, Zeng Chan Wang, Xiao Feng Liu & Mao Sheng Yang

Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis

Ming-Wei Lin — 2009-07-19

Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis

European Journal of Human Genetics advance online publication, August 19, 2009. doi:10.1038/ejhg.2009.135

Authors: Ming-Wei Lin, Ding-Dar Lee, Tze-Tze Liu, Yong-Feng Lin, Shang-Yi Chen, Chih-Cheng Huang, Hui-Ying Weng, Yu-Fen Liu, Akio Tanaka, Ken Arita, Joey Lai-Cheong, Francis Palisson, Yun-Ting Chang, Chu-Kwan Wong, Isao Matsuura, John A McGrath & Shih-Feng Tsai

Depletion of potential A2M risk haplotype for Alzheimer's disease in long-lived individuals

Friederike Flachsbart — 2009-07-29

Depletion of potential A2M risk haplotype for Alzheimer's disease in long-lived individuals

European Journal of Human Genetics advance online publication, July 29, 2009. doi:10.1038/ejhg.2009.136

Authors: Friederike Flachsbart, Amke Caliebe, Michael Nothnagel, Rabea Kleindorp, Susanna Nikolaus, Stefan Schreiber & Almut Nebel

Public interest in predictive genetic testing, including direct-to-consumer testing, for susceptibility to major depression: preliminary findings

Alex Wilde — 2009-07-19

Public interest in predictive genetic testing, including direct-to-consumer testing, for susceptibility to major depression: preliminary findings

European Journal of Human Genetics advance online publication, August 19, 2009. doi:10.1038/ejhg.2009.138

Authors: Alex Wilde, Bettina Meiser, Philip B Mitchell & Peter R Schofield

Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X)

Tod Fullston — 2009-07-09

Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X)

European Journal of Human Genetics advance online publication, September 9, 2009. doi:10.1038/ejhg.2009.139

Authors: Tod Fullston, Louise Brueton, Tracey Willis, Sunny Philip, Lesley MacPherson, Merran Finnis, Jozef Gecz & Jenny Morton

The CFTR frameshift mutation 3905insT and its effect at transcript and protein level

Javier Sanz — 2009-07-02

The CFTR frameshift mutation 3905insT and its effect at transcript and protein level

European Journal of Human Genetics advance online publication, September 2, 2009. doi:10.1038/ejhg.2009.140

Authors: Javier Sanz, Thomas von Känel, Mircea Schneider, Bernhard Steiner, André Schaller & Sabina Gallati

Association of the TGF-β receptor genes with abdominal aortic aneurysm

A F Baas — 2009-07-12

Association of the TGF-β receptor genes with abdominal aortic aneurysm

European Journal of Human Genetics advance online publication, August 12, 2009. doi:10.1038/ejhg.2009.141

Authors: A F Baas, J Medic, R van 't Slot, C G de Kovel, A Zhernakova, R H Geelkerken, S E Kranendonk, S M van Sterkenburg, D E Grobbee, A P Boll, C Wijmenga, J D Blankensteijn & Y M Ruigrok

A genome scan in affected sib-pairs with familial vesicoureteral reflux identifies a locus on chromosome 5

Christine E Briggs — 2009-07-19

A genome scan in affected sib-pairs with familial vesicoureteral reflux identifies a locus on chromosome 5

European Journal of Human Genetics advance online publication, August 19, 2009. doi:10.1038/ejhg.2009.142

Authors: Christine E Briggs, Chao-Yu Guo, Cynthia Schoettler, Ilina Rosoklija, Andres Silva, Stuart B Bauer, Alan B Retik, Louis Kunkel & Hiep T Nguyen

Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses

Xenia Kaidonis — 2009-07-19

Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses

European Journal of Human Genetics advance online publication, August 19, 2009. doi:10.1038/ejhg.2009.143

Authors: Xenia Kaidonis, Wan Chin Liaw, Ainslie Derrick Roberts, Marleesa Ly, Donald Anson & Sharon Byers

Impairment of glycosaminoglycan synthesis in mucopolysaccharidosis type IIIA cells by using siRNA: a potential therapeutic approach for Sanfilippo disease

Dariusz Dziedzic — 2009-07-19

Impairment of glycosaminoglycan synthesis in mucopolysaccharidosis type IIIA cells by using siRNA: a potential therapeutic approach for Sanfilippo disease

European Journal of Human Genetics advance online publication, August 19, 2009. doi:10.1038/ejhg.2009.144

Authors: Dariusz Dziedzic, Grzegorz Węgrzyn & Joanna Jakóbkiewicz-Banecka

Obtaining insurance after DNA diagnostics: a survey among hypertrophic cardiomyopathy mutation carriers

Imke Christiaans — 2009-07-12

Obtaining insurance after DNA diagnostics: a survey among hypertrophic cardiomyopathy mutation carriers

European Journal of Human Genetics advance online publication, August 12, 2009. doi:10.1038/ejhg.2009.145

Authors: Imke Christiaans, Tjitske M Kok, Irene M van Langen, Erwin Birnie, Gouke J Bonsel, Arthur A M Wilde & Ellen M A Smets

Genome-wide linkage analysis in a Dutch multigenerational family with attention deficit hyperactivity disorder

Rinus Vegt — 2009-07-26

Genome-wide linkage analysis in a Dutch multigenerational family with attention deficit hyperactivity disorder

European Journal of Human Genetics advance online publication, August 26, 2009. doi:10.1038/ejhg.2009.148

Authors: Rinus Vegt, Aida M Bertoli-Avella, Joke H M Tulen, Bianca de Graaf, Annemieke J M H Verkerk, Jeroen Vervoort, Carla M Twigt, Anneke Maat-Kievit, Ruud van Tuijl, Marieke van der Lijn, Michiel W Hengeveld & Ben A Oostra

Attitudes toward genetic testing in childhood and reproductive decision-making for familial adenomatous polyposis

Kirsten F L Douma — 2009-10-07

Attitudes toward genetic testing in childhood and reproductive decision-making for familial adenomatous polyposis

European Journal of Human Genetics advance online publication, October 7, 2009. doi:10.1038/ejhg.2009.151

Authors: Kirsten F L Douma, Neil K Aaronson, Hans F A Vasen, Senno Verhoef, Chad M Gundy & Eveline M A Bleiker

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

Bregje WM van Bon — 2009-10-07

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

European Journal of Human Genetics advance online publication, October 7, 2009. doi:10.1038/ejhg.2009.152

Authors: Bregje WM van Bon, David A Koolen, Louise Brueton, Dominic McMullan, Klaske D Lichtenbelt, Lesley C Adès, Gregory Peters, Kate Gibson, Francesca Novara, Tiziano Pramparo, Bernardo Dalla Bernardina, Leonardo Zoccante, Umberto Balottin, Fausta Piazza, Vanna Pecile, Paolo Gasparini, Veronica Guerci, Marleen Kets, Rolph Pfundt, Arjan P de Brouwer, Joris A Veltman, Nicole de Leeuw, Meredith Wilson, Jayne Antony, Santina Reitano, Daniela Luciano, Marco Fichera, Corrado Romano, Han G Brunner, Orsetta Zuffardi & Bert BA de Vries

Reply to Camprubí et al

Suzanne B Cassidy — 2009-10-07

Reply to Camprubí et al

European Journal of Human Genetics advance online publication, October 7, 2009. doi:10.1038/ejhg.2009.153

Authors: Suzanne B Cassidy & Daniel J Driscoll

High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?

Laura Bernardini — 2009-10-07

High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?

European Journal of Human Genetics advance online publication, October 7, 2009. doi:10.1038/ejhg.2009.154

Authors: Laura Bernardini, Viola Alesi, Sara Loddo, Antonio Novelli, Irene Bottillo, Agatino Battaglia, Maria Cristina Digilio, Giuseppe Zampino, Adam Ertel, Paolo Fortina, Saul Surrey & Bruno Dallapiccola

Comparison of participant information and informed consent forms of five European studies in genetic isolated populations

Deborah Mascalzoni — 2009-10-14

Comparison of participant information and informed consent forms of five European studies in genetic isolated populations

European Journal of Human Genetics advance online publication, October 14, 2009. doi:10.1038/ejhg.2009.155

Authors: Deborah Mascalzoni, A Cecile JW Janssens, Alison Stewart, Peter Pramstaller, Ulf Gyllensten, Igor Rudan, Cornelia M van Duijn, James F Wilson, Harry Campbell & Ruth Mc Quillan

Preliminary evidence of a noncausal association between the X-chromosome inactivation pattern and thyroid autoimmunity: a twin study

Thomas Heiberg Brix — 2009-07-30

Preliminary evidence of a noncausal association between the X-chromosome inactivation pattern and thyroid autoimmunity: a twin study

European Journal of Human Genetics advance online publication, September 30, 2009. doi:10.1038/ejhg.2009.156

Authors: Thomas Heiberg Brix, Pia Skov Hansen, Kirsten Ohm kyvik & Laszlo Hegedüs

Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects

Zari Dastani — 2009-10-21

Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects

European Journal of Human Genetics advance online publication, October 21, 2009. doi:10.1038/ejhg.2009.157

Authors: Zari Dastani, Päivi Pajukanta, Michel Marcil, Nicholas Rudzicz, Isabelle Ruel, Swneke D Bailey, Jenny C Lee, Mathieu Lemire, Janet Faith, Jill Platko, John Rioux, Thomas J Hudson, Daniel Gaudet, James C Engert & Jacques Genest

Study of smell and reproductive organs in a mouse model for CHARGE syndrome

Jorieke EH Bergman — 2009-10-07

Study of smell and reproductive organs in a mouse model for CHARGE syndrome

European Journal of Human Genetics advance online publication, October 7, 2009. doi:10.1038/ejhg.2009.158

Authors: Jorieke EH Bergman, Erika A Bosman, Conny MA van Ravenswaaij-Arts & Karen P Steel

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

Marlène Rio — 2009-10-21

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

European Journal of Human Genetics advance online publication, October 21, 2009. doi:10.1038/ejhg.2009.159

Authors: Marlène Rio, Valérie Malan, Sarah Boissel, Annick Toutain, Ghislaine Royer, Stéphanie Gobin, Nicole Morichon-Delvallez, Catherine Turleau, Jean-Paul Bonnefont, Arnold Munnich, Michel Vekemans & Laurence Colleaux

Progress in therapeutic antisense applications for neuromuscular disorders

Annemieke Aartsma-Rus — 2009-10-07

Progress in therapeutic antisense applications for neuromuscular disorders

European Journal of Human Genetics advance online publication, October 7, 2009. doi:10.1038/ejhg.2009.160

Authors: Annemieke Aartsma-Rus & Gert-Jan B van Ommen

Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3

Fadil M Hannan — 2009-10-07

Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3

European Journal of Human Genetics advance online publication, October 7, 2009. doi:10.1038/ejhg.2009.161

Authors: Fadil M Hannan, M Andrew Nesbit, Jeremy J O Turner, Joanna M Stacey, Luisella Cianferotti, Paul T Christie, Arthur D Conigrave, Michael P Whyte & Rajesh V Thakker

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

Valérie Malan — 2009-10-21

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

European Journal of Human Genetics advance online publication, October 21, 2009. doi:10.1038/ejhg.2009.162

Authors: Valérie Malan, Suzanne Chevallier, Gwendoline Soler, Christine Coubes, Didier Lacombe, Laurent Pasquier, Jean Soulier, Nicole Morichon-Delvallez, Catherine Turleau, Arnold Munnich, Serge Romana, Michel Vekemans, Valérie Cormier-Daire & Laurence Colleaux

Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11

Andreas Tzschach — 2009-10-21

Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11

European Journal of Human Genetics advance online publication, October 21, 2009. doi:10.1038/ejhg.2009.163

Authors: Andreas Tzschach, Anne-Marie Bisgaard, Maria Kirchhoff, Luitgard M Graul-Neumann, Heidemarie Neitzel, Stephanie Page, Alischo Ahmed, Ines Müller, Fikret Erdogan, Hans-Hilger Ropers, Vera M Kalscheuer & Reinhard Ullmann

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

Luis M Franco — 2009-10-21

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

European Journal of Human Genetics advance online publication, October 21, 2009. doi:10.1038/ejhg.2009.164

Authors: Luis M Franco, Thomy de Ravel, Brett H Graham, Stephanie M Frenkel, Jozef Van Driessche, Pawel Stankiewicz, James R Lupski, Joris R Vermeesch & Sau Wai Cheung

Design and evaluation of a panel of single-nucleotide polymorphisms in microRNA genomic regions for association studies in human disease

Margarita Muiños-Gimeno — 2009-10-07

Design and evaluation of a panel of single-nucleotide polymorphisms in microRNA genomic regions for association studies in human disease

European Journal of Human Genetics advance online publication, October 7, 2009. doi:10.1038/ejhg.2009.165

Authors: Margarita Muiños-Gimeno, Magda Montfort, Mònica Bayés, Xavier Estivill & Yolanda Espinosa-Parrilla

The emergence of Y-chromosome haplogroup J1e among Arabic-speaking populations

Jacques Chiaroni — 2009-10-14

The emergence of Y-chromosome haplogroup J1e among Arabic-speaking populations

European Journal of Human Genetics advance online publication, October 14, 2009. doi:10.1038/ejhg.2009.166

Authors: Jacques Chiaroni, Roy J King, Natalie M Myres, Brenna M Henn, Axel Ducourneau, Michael J Mitchell, Gilles Boetsch, Issa Sheikha, Alice A Lin, Mahnoosh Nik-Ahd, Jabeen Ahmad, Francesca Lattanzi, Rene J Herrera, Muntaser E Ibrahim, Aaron Brody, Ornella Semino, Toomas Kivisild & Peter A Underhill

A powerful genome-wide feasible approach to detect parent-of-origin effects in studies of quantitative traits

Nadezhda M Belonogova — 2009-10-07

A powerful genome-wide feasible approach to detect parent-of-origin effects in studies of quantitative traits

European Journal of Human Genetics advance online publication, October 7, 2009. doi:10.1038/ejhg.2009.167

Authors: Nadezhda M Belonogova, Tatiana I Axenovich & Yurii S Aulchenko

Traces of sub-Saharan and Middle Eastern lineages in Indian Muslim populations

Muthukrishnan Eaaswarkhanth — 2009-10-07

Traces of sub-Saharan and Middle Eastern lineages in Indian Muslim populations

European Journal of Human Genetics advance online publication, October 7, 2009. doi:10.1038/ejhg.2009.168

Authors: Muthukrishnan Eaaswarkhanth, Ikramul Haque, Zeinab Ravesh, Irene Gallego Romero, Poorlin Ramakodi Meganathan, Bhawna Dubey, Faizan Ahmed Khan, Gyaneshwer Chaubey, Toomas Kivisild, Chris Tyler-Smith, Lalji Singh & Kumarasamy Thangaraj

Functional consequences of mitochondrial tRNATrp and tRNAArg mutations causing combined OXPHOS defects

Paulien Smits — 2009-10-07

Functional consequences of mitochondrial tRNATrp and tRNAArg mutations causing combined OXPHOS defects

European Journal of Human Genetics advance online publication, October 7, 2009. doi:10.1038/ejhg.2009.169

Authors: Paulien Smits, Sandy Mattijssen, Eva Morava, Mariël van den Brand, Frans van den Brandt, Frits Wijburg, Ger Pruijn, Jan Smeitink, Leo Nijtmans, Richard Rodenburg & Lambert van den Heuvel

Prader–Willi and Angelman syndromes: genetic counseling

Cristina Camprubí — 2009-10-07

Prader–Willi and Angelman syndromes: genetic counseling

European Journal of Human Genetics advance online publication, October 7, 2009. doi:10.1038/ejhg.2009.170

Authors: Cristina Camprubí, Maria Dolors Coll, Elisabeth Gabau & Míriam Guitart

Long time no see: the Type and Contre-type concept

Giovanni Neri — 2009-10-21

Long time no see: the Type and Contre-type concept

European Journal of Human Genetics advance online publication, October 21, 2009. doi:10.1038/ejhg.2009.171

Authors: Giovanni Neri & Francesca Romana Di Raimo

Drawing the history of the Hutterite population on a genetic landscape: inference from Y-chromosome and mtDNA genotypes

Irene Pichler — 2009-10-21

Drawing the history of the Hutterite population on a genetic landscape: inference from Y-chromosome and mtDNA genotypes

European Journal of Human Genetics advance online publication, October 21, 2009. doi:10.1038/ejhg.2009.172

Authors: Irene Pichler, Christian Fuchsberger, Christa Platzer, Minal Çalişkan, Fabio Marroni, Peter P Pramstaller & Carole Ober

Understanding sickle cell carrier status identified through newborn screening: a qualitative study

Fiona A Miller — 2009-10-07

Understanding sickle cell carrier status identified through newborn screening: a qualitative study

European Journal of Human Genetics advance online publication, October 7, 2009. doi:10.1038/ejhg.2009.173

Authors: Fiona A Miller, Martha Paynter, Robin Z Hayeems, Julian Little, June C Carroll, Brenda J Wilson, Judith Allanson, Jessica P Bytautas & Pranesh Chakraborty

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

Sandesh Chakravarthy Sreenath Nagamani — 2009-10-21

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

European Journal of Human Genetics advance online publication, October 21, 2009. doi:10.1038/ejhg.2009.174

Authors: Sandesh Chakravarthy Sreenath Nagamani, Ayelet Erez, Joseph Shen, Chumei Li, Elizabeth Roeder, Sarah Cox, Lefkothea Karaviti, Margret Pearson, Sung-Hae L Kang, Trilochan Sahoo, Seema R Lalani, Pawel Stankiewicz, V Reid Sutton & Sau Wai Cheung

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation

Sinitdhorn Rujirabanjerd — 2009-10-14

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation

European Journal of Human Genetics advance online publication, October 14, 2009. doi:10.1038/ejhg.2009.175

Authors: Sinitdhorn Rujirabanjerd, John Nelson, Patrick S Tarpey, Anna Hackett, Sarah Edkins, F Lucy Raymond, Charles E Schwartz, Gillian Turner, Shigeki Iwase, Yang Shi, P Andrew Futreal, Michael R Stratton & Jozef Gecz

Genetic variants in human CLOCK associate with total energy intake and cytokine sleep factors in overweight subjects (GOLDN population)

Marta Garaulet — 200-11-04

Genetic variants in human CLOCK associate with total energy intake and cytokine sleep factors in overweight subjects (GOLDN population)

European Journal of Human Genetics advance online publication, November 4, 2009. doi:10.1038/ejhg.2009.176

Authors: Marta Garaulet, Yu-Chi Lee, Jian Shen, Laurence D Parnell, Donna K Arnett, Michael Y Tsai, Chao-Qiang Lai & Jose M Ordovas

Sporadic cases are the norm for complex disease

Jian Yang — 2009-10-14

Sporadic cases are the norm for complex disease

European Journal of Human Genetics advance online publication, October 14, 2009. doi:10.1038/ejhg.2009.177

Authors: Jian Yang, Peter M Visscher & Naomi R Wray

Large-scale parent–child comparison confirms a strong paternal influence on telomere length

Katarina Nordfjäll — 2009-10-14

Large-scale parent–child comparison confirms a strong paternal influence on telomere length

European Journal of Human Genetics advance online publication, October 14, 2009. doi:10.1038/ejhg.2009.178

Authors: Katarina Nordfjäll, Ulrika Svenson, Karl-Fredrik Norrback, Rolf Adolfsson & Göran Roos

Gain-of-function variant in GLUD2 glutamate dehydrogenase modifies Parkinson's disease onset

Andreas Plaitakis — 2009-10-14

Gain-of-function variant in GLUD2 glutamate dehydrogenase modifies Parkinson's disease onset

European Journal of Human Genetics advance online publication, October 14, 2009. doi:10.1038/ejhg.2009.179

Authors: Andreas Plaitakis, Helen Latsoudis, Konstantinos Kanavouras, Beate Ritz, Jeff M Bronstein, Irene Skoula, Vasileios Mastorodemos, Spyridon Papapetropoulos, Nikolas Borompokas, Ioannis Zaganas, Georgia Xiromerisiou, George M Hadjigeorgiou & Cleanthe Spanaki

European admixture on the Micronesian island of Kosrae: lessons from complete genetic information

Penelope E Bonnen — 2009-10-21

European admixture on the Micronesian island of Kosrae: lessons from complete genetic information

European Journal of Human Genetics advance online publication, October 21, 2009. doi:10.1038/ejhg.2009.180

Authors: Penelope E Bonnen, Jennifer K Lowe, David M Altshuler, Jan L Breslow, Markus Stoffel, Jeffrey M Friedman & Itsik Pe'er

Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis

Lucia Micale — 2009-10-21

Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis

European Journal of Human Genetics advance online publication, October 21, 2009. doi:10.1038/ejhg.2009.181

Authors: Lucia Micale, Maria Giuseppina Turturo, Carmela Fusco, Bartolomeo Augello, Luis A Pérez Jurado, Claudia Izzi, Maria Cristina Digilio, Donatella Milani, Elisabetta Lapi, Leopoldo Zelante & Giuseppe Merla

Polymorphisms in TLR4 and TLR2 genes, cytokine production and survival in rural Ghana

Linda May — 2009-10-21

Polymorphisms in TLR4 and TLR2 genes, cytokine production and survival in rural Ghana

European Journal of Human Genetics advance online publication, October 21, 2009. doi:10.1038/ejhg.2009.182

Authors: Linda May, David van Bodegom, Marijke Frölich, Lisette van Lieshout, P Eline Slagboom, Rudi GJ Westendorp & Maris Kuningas

Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei

Peter S Masny — 200-11-04

Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei

European Journal of Human Genetics advance online publication, November 4, 2009. doi:10.1038/ejhg.2009.183

Authors: Peter S Masny, On Ying A Chan, Jessica C de Greef, Ulla Bengtsson, Melanie Ehrlich, Rabi Tawil, Leslie F Lock, Jane E Hewitt, Jennifer Stocksdale, Jorge H Martin, Silvere M van der Maarel & Sara T Winokur

Genomic landscape of positive natural selection in Northern European populations

Tuuli Lappalainen — 2009-10-21

Genomic landscape of positive natural selection in Northern European populations

European Journal of Human Genetics advance online publication, October 21, 2009. doi:10.1038/ejhg.2009.184

Authors: Tuuli Lappalainen, Elina Salmela, Peter M Andersen, Karin Dahlman-Wright, Pertti Sistonen, Marja-Liisa Savontaus, Stefan Schreiber, Päivi Lahermo & Juha Kere

Genetic profile for five common variants associated with age-related macular degeneration in densely affected families: a novel analytic approach

Lucia Sobrin — 2009-10-21

Genetic profile for five common variants associated with age-related macular degeneration in densely affected families: a novel analytic approach

European Journal of Human Genetics advance online publication, October 21, 2009. doi:10.1038/ejhg.2009.185

Authors: Lucia Sobrin, Julian B Maller, Benjamin M Neale, Robyn C Reynolds, Jesen A Fagerness, Mark J Daly & Johanna M Seddon

Copy number variation upstream of PMP22 in Charcot–Marie–Tooth disease

Marian AJ Weterman — 200-11-04

Copy number variation upstream of PMP22 in Charcot–Marie–Tooth disease

European Journal of Human Genetics advance online publication, November 4, 2009. doi:10.1038/ejhg.2009.186

Authors: Marian AJ Weterman, Fred van Ruissen, Marit de Wissel, Lou Bordewijk, Johnny PA Samijn, W Ludo van der Pol, Farid Meggouh & Frank Baas

Menkes disease

Zeynep Tümer — 200-11-04

Menkes disease

European Journal of Human Genetics advance online publication, November 4, 2009. doi:10.1038/ejhg.2009.187

Authors: Zeynep Tümer & Lisbeth B Møller

Hereditary haemorrhagic telangiectasia: From symptomatic management to pathogenesis based treatment

Francisco José Fernández-Fernández — 200-11-04

Hereditary haemorrhagic telangiectasia: From symptomatic management to pathogenesis based treatment

European Journal of Human Genetics advance online publication, November 4, 2009. doi:10.1038/ejhg.2009.188

Author: Francisco José Fernández-Fernández

Coffin–Lowry syndrome

Patricia Marques Pereira — 200-11-04

Coffin–Lowry syndrome

European Journal of Human Genetics advance online publication, November 4, 2009. doi:10.1038/ejhg.2009.189

Authors: Patricia Marques Pereira, Anne Schneider, Solange Pannetier, Delphine Heron & André Hanauer

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families

Hashem Shahin — 200-11-04

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families

European Journal of Human Genetics advance online publication, November 4, 2009. doi:10.1038/ejhg.2009.190

Authors: Hashem Shahin, Tom Walsh, Amal Abu Rayyan, Ming K Lee, Jake Higgins, Diane Dickel, Kristen Lewis, James Thompson, Carl Baker, Alex S Nord, Sunday Stray, David Gurwitz, Karen B Avraham, Mary-Claire King & Moien Kanaan

Ethical implications of the use of whole genome methods in medical research

Jane Kaye — 200-11-04

Ethical implications of the use of whole genome methods in medical research

European Journal of Human Genetics advance online publication, November 4, 2009. doi:10.1038/ejhg.2009.191

Authors: Jane Kaye, Paula Boddington, Jantina de Vries, Naomi Hawkins & Karen Melham

Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects

Vinciane Wouters — 200-11-04

Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects

European Journal of Human Genetics advance online publication, November 4, 2009. doi:10.1038/ejhg.2009.193

Authors: Vinciane Wouters, Nisha Limaye, Melanie Uebelhoer, Alexandre Irrthum, Laurence M Boon, John B Mulliken, Odile Enjolras, Eulalia Baselga, Jonathan Berg, Anne Dompmartin, Sten A Ivarsson, Loshan Kangesu, Yves Lacassie, Jill Murphy, Ahmad S Teebi, Anthony Penington, Paul Rieu & Miikka Vikkula

Separating the post-Glacial coancestry of European and Asian Y chromosomes within haplogroup R1a

Peter A Underhill — 200-11-04

Separating the post-Glacial coancestry of European and Asian Y chromosomes within haplogroup R1a

European Journal of Human Genetics advance online publication, November 4, 2009. doi:10.1038/ejhg.2009.194

Authors: Peter A Underhill, Natalie M Myres, Siiri Rootsi, Mait Metspalu, Lev A Zhivotovsky, Roy J King, Alice A Lin, Cheryl-Emiliane T Chow, Ornella Semino, Vincenza Battaglia, Ildus Kutuev, Mari Järve, Gyaneshwer Chaubey, Qasim Ayub, Aisha Mohyuddin, S Qasim Mehdi, Sanghamitra Sengupta, Evgeny I Rogaev, Elza K Khusnutdinova, Andrey Pshenichnov, Oleg Balanovsky, Elena Balanovska, Nina Jeran, Dubravka Havas Augustin, Marian Baldovic, Rene J Herrera, Kumarasamy Thangaraj, Vijay Singh, Lalji Singh, Partha Majumder, Pavao Rudan, Dragan Primorac, Richard Villems & Toomas Kivisild

A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis

Inger-Lise Mero — 200-11-04

A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis

European Journal of Human Genetics advance online publication, November 4, 2009. doi:10.1038/ejhg.2009.195

Authors: Inger-Lise Mero, Åslaug R Lorentzen, Maria Ban, Cathrine Smestad, Elisabeth G Celius, Jan H Aarseth, Kjell-Morten Myhr, Jenny Link, Jan Hillert, Tomas Olsson, Ingrid Kockum, Thomas Masterman, Annette Bang Oturai, Helle Bach Søndergaard, Finn Sellebjerg, Janna Saarela, Anu Kemppinen, Irina Elovaara, Anne Spurkland, Frank Dudbridge, Benedicte A Lie & Hanne F Harbo

High-throughput sequencing of microdissected chromosomal regions

Anja Weise — 200-11-04

High-throughput sequencing of microdissected chromosomal regions

European Journal of Human Genetics advance online publication, November 4, 2009. doi:10.1038/ejhg.2009.196

Authors: Anja Weise, Bernd Timmermann, Manfred Grabherr, Martin Werber, Patricia Heyn, Nadezda Kosyakova, Thomas Liehr, Heidemarie Neitzel, Kateryna Konrat, Christiane Bommer, Carola Dietrich, Anna Rajab, Richard Reinhardt, Stefan Mundlos, Tom H Lindner & Katrin Hoffmann

Reply to Fernandez-Fernandez

Claire L Shovlin — 200-11-04

Reply to Fernandez-Fernandez

European Journal of Human Genetics advance online publication, November 4, 2009. doi:10.1038/ejhg.2009.197

Authors: Claire L Shovlin & Fatima S Govani

Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level

Rinse Klooster — 2009-10-07

Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level

European Journal of Human Genetics advance online publication, October 7, 2009. doi:10.1038/ejhg.2009.62

Authors: Rinse Klooster, Kirsten Straasheijm, Bharati Shah, Janet Sowden, Rune Frants, Charles Thornton, Rabi Tawil & Silvère van der Maarel

DNA methylation errors at imprinted loci after assisted conception originate in the parental sperm

Hisato Kobayashi — 2009-05-27

DNA methylation errors at imprinted loci after assisted conception originate in the parental sperm

European Journal of Human Genetics advance online publication, May 27, 2009. doi:10.1038/ejhg.2009.68

Authors: Hisato Kobayashi, Hitoshi Hiura, Rosalind M John, Akiko Sato, Eiko Otsu, Naoko Kobayashi, Rei Suzuki, Fumihiko Suzuki, Chika Hayashi, Takafumi Utsunomiya, Nobuo Yaegashi & Takahiro Arima

A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements

Magali Taulan — 2009-05-13

A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements

European Journal of Human Genetics advance online publication, May 13, 2009. doi:10.1038/ejhg.2009.73

Authors: Magali Taulan, Caroline Guittard, Corinne Theze, Mireille Claustres & Marie des Georges

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

Fleur S Van Dijk — 2009-06-24

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

European Journal of Human Genetics advance online publication, June 24, 2009. doi:10.1038/ejhg.2009.75

Authors: Fleur S Van Dijk, Isabel M Nesbitt, Peter G J Nikkels, Ann Dalton, Ernie M H F Bongers, Jiddeke M van de Kamp, Yvonne Hilhorst-Hofstee, Nicolette S Den Hollander, Augusta M A Lachmeijer, Carlo L Marcelis, Gita M B Tan-Sindhunata, Rick R van Rijn, Hanne Meijers-Heijboer, Jan M Cobben & Gerard Pals

Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells

Jet Bliek — 2009-06-10

Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells

European Journal of Human Genetics advance online publication, June 10, 2009. doi:10.1038/ejhg.2009.77

Authors: Jet Bliek, Marielle Alders, Saskia M Maas, Roelof-Jan Oostra, Deborah M Mackay, Karin van der Lip, Johnatan L Callaway, Alice Brooks, Sandra van 't Padje, Andries Westerveld, Nico J Leschot & Marcel MAM Mannens

WNT10A missense mutation associated with a complete Odonto-Onycho-Dermal Dysplasia syndrome

Sadia Nawaz — 2009-05-27

WNT10A missense mutation associated with a complete Odonto-Onycho-Dermal Dysplasia syndrome

European Journal of Human Genetics advance online publication, May 27, 2009. doi:10.1038/ejhg.2009.81

Authors: Sadia Nawaz, Joakim Klar, Muhammad Wajid, Muhammad Aslam, Muhammad Tariq, Jens Schuster, Shahid Mahmood Baig & Niklas Dahl

Recovering unused information in genome-wide association studies: the benefit of analyzing SNPs out of Hardy–Weinberg equilibrium

David W Fardo — 2009-06-03

Recovering unused information in genome-wide association studies: the benefit of analyzing SNPs out of Hardy–Weinberg equilibrium

European Journal of Human Genetics advance online publication, June 3, 2009. doi:10.1038/ejhg.2009.85

Authors: David W Fardo, K David Becker, Lars Bertram, Rudolph E Tanzi & Christoph Lange

Phenotypes and genotypes of insulin-like growth factor 1, IGF-binding protein-3 and cancer risk: evidence from 96 studies

Wensen Chen — 2009-06-03

Phenotypes and genotypes of insulin-like growth factor 1, IGF-binding protein-3 and cancer risk: evidence from 96 studies

European Journal of Human Genetics advance online publication, June 3, 2009. doi:10.1038/ejhg.2009.86

Authors: Wensen Chen, Sumin Wang, Tian Tian, Jianling Bai, Zhibin Hu, Yan Xu, Jing Dong, Feng Chen, Xinru Wang & Hongbing Shen

Changing perspectives in biobank research: from individual rights to concerns about public health regarding the return of results

Joanna Stjernschantz Forsberg — 2009-05-27

Changing perspectives in biobank research: from individual rights to concerns about public health regarding the return of results

European Journal of Human Genetics advance online publication, May 27, 2009. doi:10.1038/ejhg.2009.87

Authors: Joanna Stjernschantz Forsberg, Mats G Hansson & Stefan Eriksson

Preimplantation genetic diagnosis for mitochondrial DNA disorders: ethical guidance for clinical practice

Annelien Bredenoord — 2009-05-27

Preimplantation genetic diagnosis for mitochondrial DNA disorders: ethical guidance for clinical practice

European Journal of Human Genetics advance online publication, May 27, 2009. doi:10.1038/ejhg.2009.88

Authors: Annelien Bredenoord, Wybo Dondorp, Guido Pennings, Christine de Die-Smulders, Bert Smeets & Guido de Wert

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

Hartmut Engels — 2009-05-27

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

European Journal of Human Genetics advance online publication, May 27, 2009. doi:10.1038/ejhg.2009.90

Authors: Hartmut Engels, Eva Wohlleber, Alexander Zink, Juliane Hoyer, Kerstin U Ludwig, Felix F Brockschmidt, Dagmar Wieczorek, Ute Moog, Birgit Hellmann-Mersch, Ruthild G Weber, Lionel Willatt, Martina Kreiß-Nachtsheim, Helen V Firth & Anita Rauch

Axenfeld–Rieger syndrome and spectrum of PITX2 and FOXC1 mutations

Zeynep Tümer — 2009-06-10

Axenfeld–Rieger syndrome and spectrum of PITX2 and FOXC1 mutations

European Journal of Human Genetics advance online publication, June 10, 2009. doi:10.1038/ejhg.2009.93

Authors: Zeynep Tümer & Daniella Bach-Holm

Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study

Georg B Ehret — 2009-06-17

Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study

European Journal of Human Genetics advance online publication, June 17, 2009. doi:10.1038/ejhg.2009.94

Authors: Georg B Ehret, Ashley A O'Connor, Alan Weder, Richard S Cooper & Aravinda Chakravarti

Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature

Francois Dominique Jacob — 2009-07-22

Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature

European Journal of Human Genetics advance online publication, July 22, 2009. doi:10.1038/ejhg.2009.95

Authors: Francois Dominique Jacob, Vijay Ramaswamy, John Andersen & Francois V Bolduc

A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma

Remko Hersmus — 2009-06-10

A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma

European Journal of Human Genetics advance online publication, June 10, 2009. doi:10.1038/ejhg.2009.96

Authors: Remko Hersmus, Bertie HCGM de Leeuw, Hans Stoop, Pascal Bernard, Helena C van Doorn, Hennie T Brüggenwirth, Stenvert LS Drop, J Wolter Oosterhuis, Vincent R Harley & Leendert HJ Looijenga

Comparing population structure as inferred from genealogical versus genetic information

Vincenza Colonna — 2009-06-24

Comparing population structure as inferred from genealogical versus genetic information

European Journal of Human Genetics advance online publication, June 24, 2009. doi:10.1038/ejhg.2009.97

Authors: Vincenza Colonna, Teresa Nutile, Ronald R Ferrucci, Giulio Fardella, Mario Aversano, Guido Barbujani & Marina Ciullo

Association of FGFR2 gene polymorphisms with the risk of breast cancer in population of West Siberia

Uljana A Boyarskikh — 2009-06-17

Association of FGFR2 gene polymorphisms with the risk of breast cancer in population of West Siberia

European Journal of Human Genetics advance online publication, June 17, 2009. doi:10.1038/ejhg.2009.98

Authors: Uljana A Boyarskikh, Natalja A Zarubina, Julia A Biltueva, Tatjana V Sinkina, Elena N Voronina, Aleksander F Lazarev, Valentina D Petrova, Yurii S Aulchenko & Maxim L Filipenko

A mutation in an alternative untranslated exon of hexokinase 1 associated with Hereditary Motor and Sensory Neuropathy – Russe (HMSNR)

Janina Hantke — 2009-06-17

A mutation in an alternative untranslated exon of hexokinase 1 associated with Hereditary Motor and Sensory Neuropathy – Russe (HMSNR)

European Journal of Human Genetics advance online publication, June 17, 2009. doi:10.1038/ejhg.2009.99

Authors: Janina Hantke, David Chandler, Rosalind King, Ronald JA Wanders, Dora Angelicheva, Ivailo Tournev, Elyshia McNamara, Marcel Kwa, Velina Guergueltcheva, Radka Kaneva, Frank Baas & Luba Kalaydjieva