European Journal of Human Genetics

Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4)

Lisa J Strug — 2009-01-28

Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4)

European Journal of Human Genetics advance online publication, January 28, 2009. doi:10.1038/ejhg.2008.267

Authors: Lisa J Strug, Tara Clarke, Theodore Chiang, Minchen Chien, Zeynep Baskurt, Weili Li, Ruslan Dorfman, Bhavna Bali, Elaine Wirrell, Steven L Kugler, David E Mandelbaum, Steven M Wolf, Patricia McGoldrick, Huntley Hardison, Edward J Novotny, Jingyue Ju, David A Greenberg, James J Russo & Deb K Pal

Chromosome 13q13–q14 locus overlaps mood and psychotic disorders: the relevance for redefining phenotype

Michel Maziade — 2009-01-28

Chromosome 13q13–q14 locus overlaps mood and psychotic disorders: the relevance for redefining phenotype

European Journal of Human Genetics advance online publication, January 28, 2009. doi:10.1038/ejhg.2008.268

Authors: Michel Maziade, Yvon C Chagnon, Marc-André Roy, Alexandre Bureau, Alain Fournier & Chantal Mérette

Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development

Litu Zhang — 2009-01-28

Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development

European Journal of Human Genetics advance online publication, January 28, 2009. doi:10.1038/ejhg.2008.269

Authors: Litu Zhang, Zeynep Tümer, Kjeld Møllgård, Gotthold Barbi, Eva Rossier, Eske Bendsen, Rikke Steensbjerre Møller, Reinhard Ullmann, Jian He, Nickolas Papadopoulos, Niels Tommerup & Lars Allan Larsen

Two British women studies replicated the association between the Val66Met polymorphism in the brain-derived neurotrophic factor (BDNF) and BMI

Yin Yao Shugart — 200-02-11

Two British women studies replicated the association between the Val66Met polymorphism in the brain-derived neurotrophic factor (BDNF) and BMI

European Journal of Human Genetics advance online publication, February 11, 2009. doi:10.1038/ejhg.2008.272

Authors: Yin Yao Shugart, Lina Chen, Ian N M Day, Sarah J Lewis, Nicholas J Timpson, Wei Yuan, Mohammad Reza Abdollahi, Sue M Ring, Shah Ebrahim, Jean Golding, Debbie A Lawlor & George Davey-Smith

A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness

André Mégarbané — 200-02-04

A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness

European Journal of Human Genetics advance online publication, February 4, 2009. doi:10.1038/ejhg.2008.273

Authors: André Mégarbané, Rima Slim, Gudrun Nürnberg, Inga Ebermann, Peter Nürnberg & Hanno Jörn Bolz

Preconceptional ancestry-based carrier couple screening for cystic fibrosis and haemoglobinopathies: what determines the intention to participate or not and actual participation?

Phillis Lakeman — 200-02-18

Preconceptional ancestry-based carrier couple screening for cystic fibrosis and haemoglobinopathies: what determines the intention to participate or not and actual participation?

European Journal of Human Genetics advance online publication, February 18, 2009. doi:10.1038/ejhg.2009.1

Authors: Phillis Lakeman, Anne Marie Catharina Plass, Lidewij Henneman, Pieter Dirk Bezemer, Martina Cornelia Cornel & Leo Pieter ten Kate

Improving pharmacovigilance in Europe: TPMT genotyping and phenotyping in the UK and Spain

David Gurwitz — 200-02-18

Improving pharmacovigilance in Europe: TPMT genotyping and phenotyping in the UK and Spain

European Journal of Human Genetics advance online publication, February 18, 2009. doi:10.1038/ejhg.2009.10

Authors: David Gurwitz, Cristina Rodríguez-Antona, Katherine Payne, William Newman, Javier P Gisbert, Emma Gutiérrez de Mesa & Dolores Ibarreta

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

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

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

4q32–q35 and 6q16–q22 are valuable candidate regions for split hand/foot malformation

Dunja Niedrist — 200-02-18

4q32–q35 and 6q16–q22 are valuable candidate regions for split hand/foot malformation

European Journal of Human Genetics advance online publication, February 18, 2009. doi:10.1038/ejhg.2009.11

Authors: Dunja Niedrist, Iosif W Lurie & Albert Schinzel

A novel mutation in the mitochondrial tRNAPro gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency

Paola Da Pozzo — 200-02-18

A novel mutation in the mitochondrial tRNAPro gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency

European Journal of Human Genetics advance online publication, February 18, 2009. doi:10.1038/ejhg.2009.12

Authors: Paola Da Pozzo, Elena Cardaioli, Edoardo Malfatti, Gian Nicola Gallus, Alessandro Malandrini, Carmen Gaudiano, Gianna Berti, Federica Invernizzi, Massimo Zeviani & Antonio Federico

Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis

Anne-Sophie Lebre

Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis

European Journal of Human Genetics advance online publication, March 4, 2009. doi:10.1038/ejhg.2009.13

Authors: Anne-Sophie Lebre, Vincent Morinière, Olivier Dunand, Albert Bensman, Nicole Morichon-Delvallez & Corinne Antignac

16p subtelomeric duplication: a clinically recognizable syndrome

Maria Cristina Digilio — 2009-03-18

16p subtelomeric duplication: a clinically recognizable syndrome

European Journal of Human Genetics advance online publication, March 18, 2009. doi:10.1038/ejhg.2009.14

Authors: Maria Cristina Digilio, Laura Bernardini, Anna Capalbo, Rossella Capolino, Maria Giulia Gagliardi, Bruno Marino, Antonio Novelli & Bruno Dallapiccola

Using biological networks to search for interacting loci in genome-wide association studies

Mathieu Emily — 2009-03-11

Using biological networks to search for interacting loci in genome-wide association studies

European Journal of Human Genetics advance online publication, March 11, 2009. doi:10.1038/ejhg.2009.15

Authors: Mathieu Emily, Thomas Mailund, Jotun Hein, Leif Schauser & Mikkel Heide Schierup

Assessment of transmission distortion on chromosome 6p in healthy individuals using tagSNPs

Pablo Sandro Carvalho Santos

Assessment of transmission distortion on chromosome 6p in healthy individuals using tagSNPs

European Journal of Human Genetics advance online publication, March 4, 2009. doi:10.1038/ejhg.2009.16

Authors: Pablo Sandro Carvalho Santos, Johannes Höhne, Peter Schlattmann, Inke R König, Andreas Ziegler, Barbara Uchanska-Ziegler & Andreas Ziegler

Does δ-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?

Ralf Bauer

Does δ-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?

European Journal of Human Genetics advance online publication, March 4, 2009. doi:10.1038/ejhg.2009.17

Authors: Ralf Bauer, Judith Hudson, Harald D Müller, Clemens Sommer, Gabriele Dekomien, John Bourke, Daniel Routledge, Kate Bushby, Jörg Klepper & Volker Straub

Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog

Ashley M Byrnes — 2009-03-11

Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog

European Journal of Human Genetics advance online publication, March 11, 2009. doi:10.1038/ejhg.2009.18

Authors: Ashley M Byrnes, Lemuel Racacho, Allison Grimsey, Louanne Hudgins, Andrea C Kwan, Michel Sangalli, Alexa Kidd, Yuval Yaron, Yu-Lung Lau, Sarah M Nikkel & Dennis E Bulman

Segregation analysis in a family at risk for the Maroteaux–Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism

Alessandra Zanetti

Segregation analysis in a family at risk for the Maroteaux–Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism

European Journal of Human Genetics advance online publication, March 4, 2009. doi:10.1038/ejhg.2009.19

Authors: Alessandra Zanetti, Elena Ferraresi, Luigi Picci, Mirella Filocamo, Rossella Parini, Camillo Rosano, Rosella Tomanin & Maurizio Scarpa

Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1–q14.2

Dezső David — 200-02-18

Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1–q14.2

European Journal of Human Genetics advance online publication, February 18, 2009. doi:10.1038/ejhg.2009.2

Authors: Dezső David, Bárbara Marques, Cristina Ferreira, Paula Vieira, Alfredo Corona-Rivera, José Carlos Ferreira & Hans van Bokhoven

Autosomal recessive cutis laxa syndrome revisited

Éva Morava — 2009-04-29

Autosomal recessive cutis laxa syndrome revisited

European Journal of Human Genetics advance online publication, April 29, 2009. doi:10.1038/ejhg.2009.22

Authors: Éva Morava, Maïlys Guillard, Dirk J Lefeber & Ron A Wevers

Multilocus analysis of age-related macular degeneration

Julie Bergeron-Sawitzke

Multilocus analysis of age-related macular degeneration

European Journal of Human Genetics advance online publication, March 4, 2009. doi:10.1038/ejhg.2009.23

Authors: Julie Bergeron-Sawitzke, Bert Gold, Adam Olsh, Sarah Schlotterbeck, Kendal Lemon, Kala Visvanathan, Rando Allikmets & Michael Dean

Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews

Ronen Spiegel

Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews

European Journal of Human Genetics advance online publication, March 4, 2009. doi:10.1038/ejhg.2009.24

Authors: Ronen Spiegel, Avraham Shaag, Hanna Mandel, Dan Reich, Marina Penyakov, Yasir Hujeirat, Ann Saada, Orly Elpeleg & Stavit A Shalev

Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis

Francesca Mari — 2009-03-11

Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis

European Journal of Human Genetics advance online publication, March 11, 2009. doi:10.1038/ejhg.2009.27

Authors: Francesca Mari, Pia Hermanns, Maria L Giovannucci-Uzielli, Fiorella Galluzzi, Daryl Scott, Brendan Lee, Alessandra Renieri, Sheila Unger, Bernhard Zabel & Andrea Superti-Furga

Three independent mutations in the TSC2 gene in a family with tuberous sclerosis

Cédric Le Caignec

Three independent mutations in the TSC2 gene in a family with tuberous sclerosis

European Journal of Human Genetics advance online publication, March 4, 2009. doi:10.1038/ejhg.2009.28

Authors: Cédric Le Caignec, David J Kwiatkowski, Sébastien Küry, Jean-Benoit Hardouin, Judith Melki & Albert David

Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations

Gabriel Miltenberger-Miltenyi

Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations

European Journal of Human Genetics advance online publication, March 4, 2009. doi:10.1038/ejhg.2009.29

Authors: Gabriel Miltenberger-Miltenyi, Thomas Schwarzbraun, Wolfgang N Löscher, Julia Wanschitz, Christian Windpassinger, Hans-Christoph Duba, Rainer Seidl, Gerhard Albrecht, Helga Weirich-Schwaiger, Heinz Zoller, Gerd Utermann, Michaela Auer-Grumbach & Andreas R Janecke

Novel promoter and exon mutations of the BMPR2 gene in Chinese patients with pulmonary arterial hypertension

Hu Wang — 200-02-18

Novel promoter and exon mutations of the BMPR2 gene in Chinese patients with pulmonary arterial hypertension

European Journal of Human Genetics advance online publication, February 18, 2009. doi:10.1038/ejhg.2009.3

Authors: Hu Wang, Wen Li, Weili Zhang, Kai Sun, Xiaodong Song, Shuo Gao, Channa Zhang, Rutai Hui & Hong Hu

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

Svend Rand-Hendriksen — 2009-03-18

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

European Journal of Human Genetics advance online publication, March 18, 2009. doi:10.1038/ejhg.2009.30

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

Integrative genomics, personal-genome tests and personalized healthcare: the future is being built today

Angela Brand

Integrative genomics, personal-genome tests and personalized healthcare: the future is being built today

European Journal of Human Genetics advance online publication, March 4, 2009. doi:10.1038/ejhg.2009.32

Author: Angela Brand

The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy

Daniel Vega Møller — 2009-03-18

The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy

European Journal of Human Genetics advance online publication, March 18, 2009. doi:10.1038/ejhg.2009.34

Authors: Daniel Vega Møller, Paal Skytt Andersen, Paula Hedley, Mads Kristian Ersbøll, Henning Bundgaard, Johanna Moolman-Smook, Michael Christiansen & Lars Køber

Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene

Chantal Stheneur — 2009-03-18

Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene

European Journal of Human Genetics advance online publication, March 18, 2009. doi:10.1038/ejhg.2009.36

Authors: Chantal Stheneur, Gwenaëlle Collod-Béroud, Laurence Faivre, Jean François Buyck, Laurent Gouya, Jean-Marie Le Parc, Bertrand Moura, Christine Muti, Bernard Grandchamp, Gilles Sultan, Mireille Claustres, Philippe Aegerter, Bertrand Chevallier, Guillaume Jondeau & Catherine Boileau

Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies

Paola Mandich — 2009-03-18

Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies

European Journal of Human Genetics advance online publication, March 18, 2009. doi:10.1038/ejhg.2009.37

Authors: Paola Mandich, Paola Fossa, Simona Capponi, Alessandro Geroldi, Massimo Acquaviva, Rossella Gulli, Paola Ciotti, Fiore Manganelli, Marina Grandis & Emilia Bellone

The interaction index, a novel information-theoretic metric for prioritizing interacting genetic variations and environmental factors

Pritam Chanda — 2009-03-18

The interaction index, a novel information-theoretic metric for prioritizing interacting genetic variations and environmental factors

European Journal of Human Genetics advance online publication, March 18, 2009. doi:10.1038/ejhg.2009.38

Authors: Pritam Chanda, Lara Sucheston, Aidong Zhang & Murali Ramanathan

From genotypes to genometypes: putting the genome back in genome-wide association studies

J H Moore — 2009-03-11

From genotypes to genometypes: putting the genome back in genome-wide association studies

European Journal of Human Genetics advance online publication, March 11, 2009. doi:10.1038/ejhg.2009.39

Author: J H Moore

Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study

Erwin Reiling — 200-02-11

Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study

European Journal of Human Genetics advance online publication, February 11, 2009. doi:10.1038/ejhg.2009.4

Authors: Erwin Reiling, Jana V van Vliet-Ostaptchouk, Esther van 't Riet, Timon W van Haeften, Pascal A Arp, Torben Hansen, Dennis Kremer, Marlous J Groenewoud, Els C van Hove, Johannes A Romijn, Jan W A Smit, Giel Nijpels, Robert J Heine, André G Uitterlinden, Oluf Pedersen, P Eline Slagboom, Johannes A Maassen, Marten H Hofker, Leen M 't Hart & Jacqueline M Dekker

Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap

May-Britt Harmsen — 2009-03-11

Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap

European Journal of Human Genetics advance online publication, March 11, 2009. doi:10.1038/ejhg.2009.40

Authors: May-Britt Harmsen, Silvia Azzarello-Burri, M Mar García González, Gabriele Gillessen-Kaesbach, Peter Meinecke, Dietmar Müller, Anita Rauch, Eva Rossier, Eva Seemanova, Christiane Spaich, Bernhard Steiner, Dagmar Wieczorek, Martin Zenker & Kerstin Kutsche

Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor

Maria Ban — 2009-03-18

Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor

European Journal of Human Genetics advance online publication, March 18, 2009. doi:10.1038/ejhg.2009.41

Authors: Maria Ban, An Goris, Åslaug R Lorentzen, Amie Baker, Tania Mihalova, Gillian Ingram, David R Booth, Robert N Heard, Graeme J Stewart, Elke Bogaert, Bénédicte Dubois, Hanne F Harbo, Elisabeth G Celius, Anne Spurkland, Richard Strange, Clive Hawkins, Neil P Robertson, Frank Dudbridge, James Wason, Philip L De Jager, David Hafler, John D Rioux, Adrian J Ivinson, Jacob L McCauley, Margaret Pericak-Vance, Jorge R Oksenberg, Stephen L Hauser, David Sexton, Jonathan Haines & Stephen Sawcer

Variant on 9p21 strongly associates with coronary heart disease, but lacks association with common stroke

Robin Lemmens — 2009-03-25

Variant on 9p21 strongly associates with coronary heart disease, but lacks association with common stroke

European Journal of Human Genetics advance online publication, March 25, 2009. doi:10.1038/ejhg.2009.42

Authors: Robin Lemmens, Shérine Abboud, Wim Robberecht, Luc Vanhees, Massimo Pandolfo, Vincent Thijs & An Goris

Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia

Sonja C Vernes

Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia

European Journal of Human Genetics advance online publication, April 8, 2009. doi:10.1038/ejhg.2009.43

Authors: Sonja C Vernes, Kay D MacDermot, Anthony P Monaco & Simon E Fisher

SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions

Claire Beneteau

SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions

European Journal of Human Genetics advance online publication, April 8, 2009. doi:10.1038/ejhg.2009.44

Authors: Claire Beneteau, Hélène Cavé, Anne Moncla, Nathalie Dorison, Arnold Munnich, Alain Verloes & Bruno Leheup

The FAS ligand promoter polymorphism, rs763110 (−844C>T), contributes to cancer susceptibility: evidence from 19 case–control studies

Zhizhong Zhang

The FAS ligand promoter polymorphism, rs763110 (−844C>T), contributes to cancer susceptibility: evidence from 19 case–control studies

European Journal of Human Genetics advance online publication, April 1, 2009. doi:10.1038/ejhg.2009.45

Authors: Zhizhong Zhang, Lixin Qiu, Meilin Wang, Na Tong, Jin Li & Zhengdong Zhang

The maternal aborigine colonization of La Palma (Canary Islands)

Rosa Fregel

The maternal aborigine colonization of La Palma (Canary Islands)

European Journal of Human Genetics advance online publication, April 1, 2009. doi:10.1038/ejhg.2009.46

Authors: Rosa Fregel, Jose Pestano, Matilde Arnay, Vicente M Cabrera, Jose M Larruga & Ana M González

Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection

Nuala H Sykes — 2009-04-22

Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection

European Journal of Human Genetics advance online publication, April 22, 2009. doi:10.1038/ejhg.2009.47

Authors: Nuala H Sykes, Claudio Toma, Natalie Wilson, Emanuela V Volpi, Inês Sousa, Alistair T Pagnamenta, Raffaella Tancredi, Agatino Battaglia, Elena Maestrini, Anthony J Bailey & Anthony P Monaco

Evidence for association with hepatocellular carcinoma at the PAPSS1 locus on chromosome 4q25 in a family-based study

Wei-Liang Shih

Evidence for association with hepatocellular carcinoma at the PAPSS1 locus on chromosome 4q25 in a family-based study

European Journal of Human Genetics advance online publication, April 1, 2009. doi:10.1038/ejhg.2009.48

Authors: Wei-Liang Shih, Ming-Whei Yu, Pei-Jer Chen, Tai-Wei Wu, Chih-Lin Lin, Chun-Jen Liu, Shi-Ming Lin, Dar-In Tai, Shou-Dong Lee & Yun-Fan Liaw

Predicting human height by Victorian and genomic methods

Yurii S Aulchenko — 200-02-18

Predicting human height by Victorian and genomic methods

European Journal of Human Genetics advance online publication, February 18, 2009. doi:10.1038/ejhg.2009.5

Authors: Yurii S Aulchenko, Maksim V Struchalin, Nadezhda M Belonogova, Tatiana I Axenovich, Michael N Weedon, Albert Hofman, Andre G Uitterlinden, Manfred Kayser, Ben A Oostra, Cornelia M van Duijn, A Cecile J W Janssens & Pavel M Borodin

Specific association of a CLEC16A/KIAA0350 polymorphism with NOD2/CARD15− Crohn's disease patients

Ana Márquez

Specific association of a CLEC16A/KIAA0350 polymorphism with NOD2/CARD15− Crohn's disease patients

European Journal of Human Genetics advance online publication, April 1, 2009. doi:10.1038/ejhg.2009.50

Authors: Ana Márquez, Jezabel Varadé, Gema Robledo, Alfonso Martínez, Juan Luis Mendoza, Carlos Taxonera, Miguel Fernández-Arquero, Manuel Díaz-Rubio, María Gómez-García, Miguel Angel López-Nevot, Emilio G de la Concha, Javier Martín & Elena Urcelay

Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families

Laia Rodriguez-Revenga — 2009-04-15

Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families

European Journal of Human Genetics advance online publication, April 15, 2009. doi:10.1038/ejhg.2009.51

Authors: Laia Rodriguez-Revenga, Irene Madrigal, Javier Pagonabarraga, Mar Xunclà, Celia Badenas, Jaime Kulisevsky, Beatriz Gomez & Montserrat Milà

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

Emma Hilton — 2009-04-15

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

European Journal of Human Genetics advance online publication, April 15, 2009. doi:10.1038/ejhg.2009.52

Authors: Emma Hilton, Jennifer Johnston, Sandra Whalen, Nobuhiko Okamoto, Yoshikazu Hatsukawa, Juntaro Nishio, Hiroshi Kohara, Yoshiko Hirano, Seiji Mizuno, Chiharu Torii, Kenjiro Kosaki, Sylvie Manouvrier, Odile Boute, Rahat Perveen, Caroline Law, Anthony Moore, David Fitzpatrick, Johannes Lemke, Florence Fellmann, François-Guillaume Debray, Florence Dastot-Le-Moal, Marion Gerard, Josiane Martin, Pierre Bitoun, Michel Goossens, Alain Verloes, Albert Schinzel, Deborah Bartholdi, Tanya Bardakjian, Beverly Hay, Kim Jenny, Kathreen Johnston, Michael Lyons, John W Belmont, Leslie G Biesecker, Irina Giurgea & Graeme Black

Genetic markers and population history: Finland revisited

Jukka U Palo — 2009-04-15

Genetic markers and population history: Finland revisited

European Journal of Human Genetics advance online publication, April 15, 2009. doi:10.1038/ejhg.2009.53

Authors: Jukka U Palo, Ismo Ulmanen, Matti Lukka, Pekka Ellonen & Antti Sajantila

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

Francesco Lescai — 2009-04-15

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

European Journal of Human Genetics advance online publication, April 15, 2009. doi:10.1038/ejhg.2009.54

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

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

Marjan De Rademaeker — 2009-04-15

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

European Journal of Human Genetics advance online publication, April 15, 2009. doi:10.1038/ejhg.2009.56

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

A heterozygote–homozygote test of Hardy–Weinberg equilibrium

Jin J Zhou — 2009-04-15

A heterozygote–homozygote test of Hardy–Weinberg equilibrium

European Journal of Human Genetics advance online publication, April 15, 2009. doi:10.1038/ejhg.2009.57

Authors: Jin J Zhou, Kenneth Lange, Jeanette C Papp & Janet S Sinsheimer

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

Sergio Tofanelli — 2009-04-15

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

European Journal of Human Genetics advance online publication, April 15, 2009. doi:10.1038/ejhg.2009.58

Authors: 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 & Cristian Capelli

Lessons from cutis laxa syndromes: wrinkles due to improper reloading of the extracellular matrix?

Uwe Kornak — 2009-04-29

Lessons from cutis laxa syndromes: wrinkles due to improper reloading of the extracellular matrix?

European Journal of Human Genetics advance online publication, April 29, 2009. doi:10.1038/ejhg.2009.59

Author: Uwe Kornak

Y-Chromosome distribution within the geo-linguistic landscape of northwestern Russia

Sheyla Mirabal

Y-Chromosome distribution within the geo-linguistic landscape of northwestern Russia

European Journal of Human Genetics advance online publication, March 4, 2009. doi:10.1038/ejhg.2009.6

Authors: Sheyla Mirabal, Maria Regueiro, Alicia M Cadenas, L Luca Cavalli-Sforza, Peter A Underhill, Dmitry A Verbenko, Svetlana A Limborska & Rene J Herrera

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

D Gareth R Evans — 2009-04-15

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

European Journal of Human Genetics advance online publication, April 15, 2009. doi:10.1038/ejhg.2009.60

Authors: D Gareth R Evans, Richard Clayton, Paul Donnai, Andrew Shenton & Fiona Lalloo

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

Mandy van Hoek — 2009-04-15

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

European Journal of Human Genetics advance online publication, April 15, 2009. doi:10.1038/ejhg.2009.61

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

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

Hai-Yan Zhu — 2009-04-29

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

European Journal of Human Genetics advance online publication, April 29, 2009. doi:10.1038/ejhg.2009.63

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

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

Adrian M Stütz — 2009-04-22

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

European Journal of Human Genetics advance online publication, April 22, 2009. doi:10.1038/ejhg.2009.64

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

Direct to consumer genetic tests

Christine Patch — 2009-04-29

Direct to consumer genetic tests

European Journal of Human Genetics advance online publication, April 29, 2009. doi:10.1038/ejhg.2009.66

Authors: Christine Patch, Jorge Sequeiros & Martina C Cornel

Angelman syndrome (AS, MIM 105830)

Griet Van Buggenhout — 2009-05-20

Angelman syndrome (AS, MIM 105830)

European Journal of Human Genetics advance online publication, May 20, 2009. doi:10.1038/ejhg.2009.67

Authors: Griet Van Buggenhout & Jean-Pierre Fryns

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

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

Paolo Garagnani — 2009-05-06

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

European Journal of Human Genetics advance online publication, May 6, 2009. doi:10.1038/ejhg.2009.69

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

Joint analysis of tightly linked SNPs in screening step of genome-wide association studies leads to increased power

Tim Becker — 200-02-18

Joint analysis of tightly linked SNPs in screening step of genome-wide association studies leads to increased power

European Journal of Human Genetics advance online publication, February 18, 2009. doi:10.1038/ejhg.2009.7

Authors: Tim Becker & Christine Herold

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

Michela Barbaro — 2009-05-06

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

European Journal of Human Genetics advance online publication, May 6, 2009. doi:10.1038/ejhg.2009.70

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

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

Giovanni Quarta — 2009-05-06

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

European Journal of Human Genetics advance online publication, May 6, 2009. doi:10.1038/ejhg.2009.71

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

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

Anneke T van Silfhout — 2009-04-29

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

European Journal of Human Genetics advance online publication, April 29, 2009. doi:10.1038/ejhg.2009.72

Authors: 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 & Conny M A van Ravenswaaij-Arts

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

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

Antoinet CJ Gijsbers — 2009-05-13

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

European Journal of Human Genetics advance online publication, May 13, 2009. doi:10.1038/ejhg.2009.74

Authors: 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 & Claudia AL Ruivenkamp

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

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

Aurélie Plancke — 2009-05-20

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

European Journal of Human Genetics advance online publication, May 20, 2009. doi:10.1038/ejhg.2009.76

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

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

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

Marija Mihelec — 2009-05-27

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

European Journal of Human Genetics advance online publication, May 27, 2009. doi:10.1038/ejhg.2009.79

Authors: 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 & Robyn V Jamieson

Allelic heterogeneity of G6PD deficiency in West Africa and severe malaria susceptibility

Taane G Clark — 200-02-18

Allelic heterogeneity of G6PD deficiency in West Africa and severe malaria susceptibility

European Journal of Human Genetics advance online publication, February 18, 2009. doi:10.1038/ejhg.2009.8

Authors: Taane G Clark, Andrew E Fry, Sarah Auburn, Susana Campino, Mahamadou Diakite, Angela Green, Anna Richardson, Yik Y Teo, Kerrin Small, Jonathan Wilson, Muminatou Jallow, Fatou Sisay-Joof, Margaret Pinder, Pardis Sabeti, Dominic P Kwiatkowski & Kirk A Rockett

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 — 2009-05-27

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

European Journal of Human Genetics advance online publication, May 27, 2009. doi:10.1038/ejhg.2009.80

Authors: Mahdad Karimi, Lauren C Goldie, Mark N Cruickshank, Eric K Moses & Lawrence J Abraham

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

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

Yann Fichou — 2009-05-27

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

European Journal of Human Genetics advance online publication, May 27, 2009. doi:10.1038/ejhg.2009.82

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

Expression of SNURF–SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesis

Michaela Wawrzik — 2009-05-27

Expression of SNURF–SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesis

European Journal of Human Genetics advance online publication, May 27, 2009. doi:10.1038/ejhg.2009.83

Authors: Michaela Wawrzik, Andrej-Nikolai Spiess, Ralf Herrmann, Karin Buiting & Bernhard Horsthemke

Council of Europe adopts protocol on genetic testing for health purposes

Laurence Lwoff — 2009-07-01

Council of Europe adopts protocol on genetic testing for health purposes

European Journal of Human Genetics advance online publication, July 1, 2009. doi:10.1038/ejhg.2009.84

Author: Laurence Lwoff

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

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

Virginie Caux-Moncoutier — 2009-05-27

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

European Journal of Human Genetics advance online publication, May 27, 2009. doi:10.1038/ejhg.2009.89

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

Biological sample collections from minors for genetic research: a systematic review of guidelines and position papers

Kristien Hens — 200-02-18

Biological sample collections from minors for genetic research: a systematic review of guidelines and position papers

European Journal of Human Genetics advance online publication, February 18, 2009. doi:10.1038/ejhg.2009.9

Authors: Kristien Hens, Herman Nys, Jean-Jacques Cassiman & Kris Dierickx

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

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

Harinder K Gill — 2009-05-27

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

European Journal of Human Genetics advance online publication, May 27, 2009. doi:10.1038/ejhg.2009.91

Authors: 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 & Roland G Roberts

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

Emily Webb — 2009-05-27

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

European Journal of Human Genetics advance online publication, May 27, 2009. doi:10.1038/ejhg.2009.92

Authors: Emily Webb, Peter Broderick, Steven Lubbe, Ian Chandler, Ian Tomlinson & Richard S Houlston

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

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