European Journal of Human Genetics

Array-CGH fine mapping of minor and cryptic HR-CGH detected genomic imbalances in 80 out of 590 patients with abnormal development

Helle Lybæk — May 7, 2008

Array-CGH fine mapping of minor and cryptic HR-CGH detected genomic imbalances in 80 out of 590 patients with abnormal development

European Journal of Human Genetics advance online publication, May 7, 2008. doi:10.1038/ejhg.2008.78

Authors: Helle Lybæk, Leonardo A Meza-Zepeda, Stine H Kresse, Trude Høysæter, Vidar M Steen & Gunnar Houge

An Xp11.23 deletion containing PORCN may also cause angioma serpiginosum, a cosmetic skin disease associated with extreme skewing of X-inactivation

Gunnar Houge — May 14, 2008

An Xp11.23 deletion containing PORCN may also cause angioma serpiginosum, a cosmetic skin disease associated with extreme skewing of X-inactivation

European Journal of Human Genetics advance online publication, May 14, 2008. doi:10.1038/ejhg.2008.87

Authors: Gunnar Houge, Frank Oeffner & Karl-Heinz Grzeschik

Reconstructing the phylogeny of African mitochondrial DNA lineages in Slavs

Boris A Malyarchuk — April 9, 2008

Reconstructing the phylogeny of African mitochondrial DNA lineages in Slavs

European Journal of Human Genetics advance online publication, April 9, 2008. doi:10.1038/ejhg.2008.70

Authors: Boris A Malyarchuk, Miroslava Derenko, Maria Perkova, Tomasz Grzybowski, Tomas Vanecek & Jan Lazur

A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features

Imen Rejeb — June 4, 2008

A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features

European Journal of Human Genetics advance online publication, June 4, 2008. doi:10.1038/ejhg.2008.103

Authors: Imen Rejeb, Yoann Saillour, Laetitia Castelnau, Cédric Julien, Thierry Bienvenu, Patricia Taga, Habiba Chaabouni, Jamel Chelly, Lamia Ben Jemaa & Nadia Bahi-Buisson

Williams–Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase

Lucia Micale — April 9, 2008

Williams–Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase

European Journal of Human Genetics advance online publication, April 9, 2008. doi:10.1038/ejhg.2008.68

Authors: Lucia Micale, Carmela Fusco, Bartolomeo Augello, Luisa M R Napolitano, Emmanouil T Dermitzakis, Germana Meroni, Giuseppe Merla & Alexandre Reymond

Comprehensive association analyses of IGF1, ESR2, and CYP17 genes with adult height in Caucasians

Tie-Lin Yang — June 18, 2008

Comprehensive association analyses of IGF1, ESR2, and CYP17 genes with adult height in Caucasians

European Journal of Human Genetics advance online publication, June 18, 2008. doi:10.1038/ejhg.2008.113

Authors: Tie-Lin Yang, Dong-Hai Xiong, Yan Guo, Robert R Recker & Hong-Wen Deng

Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient

Eric Pasmant — July 23, 2008

Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient

European Journal of Human Genetics advance online publication, July 23, 2008. doi:10.1038/ejhg.2008.134

Authors: Eric Pasmant, Aurélie de Saint-Trivier, Ingrid Laurendeau, Anne Dieux-Coeslier, Béatrice Parfait, Michel Vidaud, Dominique Vidaud & Ivan Bièche

Micro-exons of the cardiac myosin binding protein C gene: flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations

Rune Frank-Hansen — March 12, 2008

Micro-exons of the cardiac myosin binding protein C gene: flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations

European Journal of Human Genetics advance online publication, March 12, 2008. doi:10.1038/ejhg.2008.52

Authors: Rune Frank-Hansen, Stephen P Page, Petros Syrris, William J McKenna, Michael Christiansen & Paal Skytt Andersen

The polymorphisms of protein-tyrosine phosphatase receptor-type delta gene and its association with pediatric asthma in the Taiwanese population

Shyh-Dar Shyur — April 16, 2008

The polymorphisms of protein-tyrosine phosphatase receptor-type delta gene and its association with pediatric asthma in the Taiwanese population

European Journal of Human Genetics advance online publication, April 16, 2008. doi:10.1038/ejhg.2008.79

Authors: Shyh-Dar Shyur, Jiu-Yao Wang, Cherry Guan-Ju Lin, Ya-Hsin Hsiao, Ya-Huei Liou, Ying-Jye Wu & Lawrence Shih-Hsin Wu

Hypotheses in genome-wide association scans

Michael Nothnagel — May 14, 2008

Hypotheses in genome-wide association scans

European Journal of Human Genetics advance online publication, May 14, 2008. doi:10.1038/ejhg.2008.97

Authors: Michael Nothnagel, Timothy T Lu & Michael Krawczak

Family communication between children and their parents about inherited genetic conditions: a meta-synthesis of the research

Alison Metcalfe — April 23, 2008

Family communication between children and their parents about inherited genetic conditions: a meta-synthesis of the research

European Journal of Human Genetics advance online publication, April 23, 2008. doi:10.1038/ejhg.2008.84

Authors: Alison Metcalfe, Jane Coad, Gill M Plumridge, Paramjit Gill & Peter Farndon

Ischaemic stroke in hypertensive patients is associated with variations in the PDE4D genome region

Håkan Lövkvist — April 9, 2008

Ischaemic stroke in hypertensive patients is associated with variations in the PDE4D genome region

European Journal of Human Genetics advance online publication, April 9, 2008. doi:10.1038/ejhg.2008.62

Authors: Håkan Lövkvist, Jan Gustav Smith, Holger Luthman, Peter Höglund, Bo Norrving, Ulf Kristoffersson, Ann-Cathrin Jönsson & Arne G Lindgren

Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism

Dries Castermans — April 16, 2008

Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism

European Journal of Human Genetics advance online publication, April 16, 2008. doi:10.1038/ejhg.2008.71

Authors: Dries Castermans, Bernard Thienpont, Karolien Volders, An Crepel, Joris R Vermeesch, Connie T Schrander-Stumpel, Wim J M Van de Ven, Jean G Steyaert, John W M Creemers & Koen Devriendt

Health first, genetics second: exploring families' experiences of communicating genetic information

Laura E Forrest — May 21, 2008

Health first, genetics second: exploring families' experiences of communicating genetic information

European Journal of Human Genetics advance online publication, May 21, 2008. doi:10.1038/ejhg.2008.104

Authors: Laura E Forrest, Lisette Curnow, Martin B Delatycki, Loane Skene & MaryAnne Aitken

Genome-wide linkage analysis for identifying quantitative trait loci involved in the regulation of lipoprotein a (Lpa) levels

Sonia López — June 18, 2008

Genome-wide linkage analysis for identifying quantitative trait loci involved in the regulation of lipoprotein a (Lpa) levels

European Journal of Human Genetics advance online publication, June 18, 2008. doi:10.1038/ejhg.2008.114

Authors: Sonia López, Alfonso Buil, Jordi Ordoñez, Juan Carlos Souto, Laura Almasy, Mark Lathrop, John Blangero, Francisco Blanco-Vaca, Jordi Fontcuberta & José Manuel Soria

Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres

Marielle E van Gijn — July 23, 2008

Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres

European Journal of Human Genetics advance online publication, July 23, 2008. doi:10.1038/ejhg.2008.135

Authors: Marielle E van Gijn, Stéphan Soler, Claire de la Chapelle, Marcel Mulder, Cécile Ritorre, Marjolein Kriek, Laurent Philibert, Michiel van der Wielen, Joost Frenkel, Sylvie Grandemange, Egbert Bakker, Johannes K Ploos van Amstel & Isabelle Touitou

Genetic diversity patterns at the human clock gene period 2 are suggestive of population-specific positive selection

Fulvio Cruciani — June 25, 2008

Genetic diversity patterns at the human clock gene period 2 are suggestive of population-specific positive selection

European Journal of Human Genetics advance online publication, June 25, 2008. doi:10.1038/ejhg.2008.105

Authors: Fulvio Cruciani, Beniamino Trombetta, Damian Labuda, David Modiano, Antonio Torroni, Rodolfo Costa & Rosaria Scozzari

Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families

Femke A de Snoo — April 9, 2008

Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families

European Journal of Human Genetics advance online publication, April 9, 2008. doi:10.1038/ejhg.2008.72

Authors: Femke A de Snoo, Jouke-Jan Hottenga, Elizabeth M Gillanders, Loudewijk A Sandkuijl, Mary Pat Jones, Wilma Bergman, Clasine van der Drift, Inge van Leeuwen, Lenny van Mourik, Jeanet A C ter Huurne, Rune R Frants, Rein Willemze, Martijn H Breuning, Jeffrey M Trent & Nelleke A Gruis

Quantifying the increase in average human heterozygosity due to urbanisation

Igor Rudan — March 5, 2008

Quantifying the increase in average human heterozygosity due to urbanisation

European Journal of Human Genetics advance online publication, March 5, 2008. doi:10.1038/ejhg.2008.48

Authors: Igor Rudan, Andrew D Carothers, Ozren Polasek, Caroline Hayward, Veronique Vitart, Zrinka Biloglav, Ivana Kolcic, Lina Zgaga, Davor Ivankovic, Ariana Vorko-Jovic, James F Wilson, James L Weber, Nick Hastie, Alan Wright & Harry Campbell

Uptake of genetic counselling and predictive DNA testing in hypertrophic cardiomyopathy

Imke Christiaans — May 14, 2008

Uptake of genetic counselling and predictive DNA testing in hypertrophic cardiomyopathy

European Journal of Human Genetics advance online publication, May 14, 2008. doi:10.1038/ejhg.2008.92

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

A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex

Anelia Horvath — April 23, 2008

A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex

European Journal of Human Genetics advance online publication, April 23, 2008. doi:10.1038/ejhg.2008.85

Authors: Anelia Horvath, Christoforos Giatzakis, Kitman Tsang, Elizabeth Greene, Paulo Osorio, Sosipatros Boikos, Rossella Libè, Yianna Patronas, Audrey Robinson-White, Elaine Remmers, Jerôme Bertherat, Maria Nesterova & Constantine A Stratakis

Genome-wide search for QTLs for apolipoprotein A-I level in elderly Swedish DZ twins: evidence of female-specific locus on 15q11–13

Patrik K E Magnusson — March 5, 2008

Genome-wide search for QTLs for apolipoprotein A-I level in elderly Swedish DZ twins: evidence of female-specific locus on 15q11–13

European Journal of Human Genetics advance online publication, March 5, 2008. doi:10.1038/ejhg.2008.50

Authors: Patrik K E Magnusson, Marcus Boman, Ulf de Faire, Markus Perola, Leena Peltonen & Nancy L Pedersen

A novel genomic disorder: a deletion of the SACS gene leading to Spastic Ataxia of Charlevoix–Saguenay

Jeroen Breckpot — April 9, 2008

A novel genomic disorder: a deletion of the SACS gene leading to Spastic Ataxia of Charlevoix–Saguenay

European Journal of Human Genetics advance online publication, April 9, 2008. doi:10.1038/ejhg.2008.58

Authors: Jeroen Breckpot, Yoshihisa Takiyama, Bernard Thienpont, Steven Van Vooren, Joris Robert Vermeesch, Els Ortibus & Koenraad Devriendt

Gene–environment interactions for complex traits: definitions, methodological requirements and challenges

Astrid Dempfle — June 4, 2008

Gene–environment interactions for complex traits: definitions, methodological requirements and challenges

European Journal of Human Genetics advance online publication, June 4, 2008. doi:10.1038/ejhg.2008.106

Authors: Astrid Dempfle, André Scherag, Rebecca Hein, Lars Beckmann, Jenny Chang-Claude & Helmut Schäfer

Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin

Vilma-Lotta Lehtokari — April 2, 2008

Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin

European Journal of Human Genetics advance online publication, April 2, 2008. doi:10.1038/ejhg.2008.60

Authors: Vilma-Lotta Lehtokari, Katarina Pelin, Kati Donner, Thomas Voit, Sabine Rudnik-Schöneborn, Mechthild Stoetter, Beril Talim, Haluk Topaloglu, Nigel G Laing & Carina Wallgren-Pettersson

HuGE Watch: tracking trends and patterns of published studies of genetic association and human genome epidemiology in near-real time

Wei Yu — May 14, 2008

HuGE Watch: tracking trends and patterns of published studies of genetic association and human genome epidemiology in near-real time

European Journal of Human Genetics advance online publication, May 14, 2008. doi:10.1038/ejhg.2008.95

Authors: Wei Yu, Anja Wulf, Ajay Yesupriya, Melinda Clyne, Muin Joseph Khoury & Marta Gwinn

Array-based comparative genomic hybridization of mapped BAC DNA clones to screen for chromosome 14 copy number abnormalities in meningiomas

Ana Belén Espinosa — July 16, 2008

Array-based comparative genomic hybridization of mapped BAC DNA clones to screen for chromosome 14 copy number abnormalities in meningiomas

European Journal of Human Genetics advance online publication, July 16, 2008. doi:10.1038/ejhg.2008.128

Authors: Ana Belén Espinosa, Carlos Mackintosh, Angel Maíllo, Laura Gutierrez, Pablo Sousa, Marta Merino, Javier Ortiz, Enrique de Alava, Alberto Orfao & María Dolores Tabernero

Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene

S Türkmen — March 26, 2008

Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene

European Journal of Human Genetics advance online publication, March 26, 2008. doi:10.1038/ejhg.2008.73

Authors: S Türkmen, K Hoffmann, Osman Demirhan, Defne Aruoba, N Humphrey & S Mundlos

An Internet-based external quality assessment in cytogenetics that audits a laboratory's analytical and interpretative performance

Rosalind J Hastings — May 21, 2008

An Internet-based external quality assessment in cytogenetics that audits a laboratory's analytical and interpretative performance

European Journal of Human Genetics advance online publication, May 21, 2008. doi:10.1038/ejhg.2008.82

Authors: Rosalind J Hastings, Eddy J Maher, Bettina Quellhorst-Pawley & Rodney T Howell

Predicting the number and sizes of IBD regions among family members and evaluating the family size requirement for linkage studies

Wanling Yang — June 25, 2008

Predicting the number and sizes of IBD regions among family members and evaluating the family size requirement for linkage studies

European Journal of Human Genetics advance online publication, June 25, 2008. doi:10.1038/ejhg.2008.116

Authors: Wanling Yang, Zhanyong Wang, Lusheng Wang, Pak-Chung Sham, Peng Huang & Yu Lung Lau

Haplotypic analysis of tag SNPs of the interleukin-18 gene in relation to cardiovascular disease events: the MORGAM Project

Marie-Lise Grisoni — July 16, 2008

Haplotypic analysis of tag SNPs of the interleukin-18 gene in relation to cardiovascular disease events: the MORGAM Project

European Journal of Human Genetics advance online publication, July 16, 2008. doi:10.1038/ejhg.2008.127

Authors: Marie-Lise Grisoni, Carole Proust, Mervi Alanne, Maylis DeSuremain, Veikko Salomaa, Kari Kuulasmaa, François Cambien, Viviane Nicaud, Birgitta Stegmayr, Jarmo Virtamo, Denis Shields, Frank Kee, Laurence Tiret, Alun Evans & David-Alexandre Tregouet

LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance

Christine LH Snozek — July 23, 2008

LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance

European Journal of Human Genetics advance online publication, July 23, 2008. doi:10.1038/ejhg.2008.138

Authors: Christine LH Snozek, Susan A Lagerstedt, Teck K Khoo, Melvyn Rubenfire, William L Isley, Laura J Train & Linnea M Baudhuin

Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development

Heather L Wilson — June 4, 2008

Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development

European Journal of Human Genetics advance online publication, June 4, 2008. doi:10.1038/ejhg.2008.107

Authors: Heather L Wilson, John A Crolla, Dena Walker, Lina Artifoni, Bruno Dallapiccola, Takako Takano, Pradeep Vasudevan, Shuwen Huang, Vivienne Maloney, Twila Yobb, Oliver Quarrell & Heather E McDermid

Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man

Ernie M H F Bongers — April 16, 2008

Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man

European Journal of Human Genetics advance online publication, April 16, 2008. doi:10.1038/ejhg.2008.83

Authors: Ernie M H F Bongers, Ilse J de Wijs, Carlo Marcelis, Lies H Hoefsloot & Nine V A M Knoers

Reply to Nothnagel et al

Gert Jan B van Ommen — May 14, 2008

Reply to Nothnagel et al

European Journal of Human Genetics advance online publication, May 14, 2008. doi:10.1038/ejhg.2008.98

Author: Gert Jan B van Ommen

Interleukin 18 receptor 1 gene polymorphisms are associated with asthma

Guohua Zhu — April 2, 2008

Interleukin 18 receptor 1 gene polymorphisms are associated with asthma

European Journal of Human Genetics advance online publication, April 2, 2008. doi:10.1038/ejhg.2008.67

Authors: Guohua Zhu, Moira K B Whyte, Jorgen Vestbo, Karin Carlsen, Kai-Håkon Carlsen, Warren Lenney, Michael Silverman, Peter Helms & Sreekumar G Pillai

Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe

Corien C Verschuuren-Bemelmans — June 4, 2008

Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe

European Journal of Human Genetics advance online publication, June 4, 2008. doi:10.1038/ejhg.2008.108

Authors: Corien C Verschuuren-Bemelmans, Pia Winter, Deborah A Sival, Jan-Willem Elting, Oebele F Brouwer & Ulrich Müller

The use of common mitochondrial variants to detect and characterise population structure in the Australian population: implications for genome-wide association studies

Enda M Byrne — July 9, 2008

The use of common mitochondrial variants to detect and characterise population structure in the Australian population: implications for genome-wide association studies

European Journal of Human Genetics advance online publication, July 9, 2008. doi:10.1038/ejhg.2008.117

Authors: Enda M Byrne, Allan F McRae, Zhen-Zhen Zhao, Nicholas G Martin, Grant W Montgomery & Peter M Visscher

Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations

Elisabetta Tabolacci — July 16, 2008

Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations

European Journal of Human Genetics advance online publication, July 16, 2008. doi:10.1038/ejhg.2008.130

Authors: Elisabetta Tabolacci, Umberto Moscato, Francesca Zalfa, Claudia Bagni, Pietro Chiurazzi & Giovanni Neri

Testing replication of a 5-SNP set for general cognitive ability in six population samples

Michelle Luciano — May 21, 2008

Testing replication of a 5-SNP set for general cognitive ability in six population samples

European Journal of Human Genetics advance online publication, May 21, 2008. doi:10.1038/ejhg.2008.100

Authors: Michelle Luciano, Penelope A Lind, Ian J Deary, Antony Payton, Danielle Posthuma, Lee M Butcher, Zoltan Bochdanovits, Lawrence J Whalley, Peter M Visscher, Sarah E Harris, Tinca J C Polderman, Oliver S P Davis, Margaret J Wright, John M Starr, Eco J C de Geus, Timothy C Bates, Grant W Montgomery, Dorret I Boomsma, Nicholas G Martin & Robert Plomin

The effect of pedigree structure on detection of deletions and other null alleles

Anna M Johansson — April 16, 2008

The effect of pedigree structure on detection of deletions and other null alleles

European Journal of Human Genetics advance online publication, April 16, 2008. doi:10.1038/ejhg.2008.75

Authors: Anna M Johansson & Torbjörn Säll

Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives

Elina Rantanen — May 14, 2008

Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives

European Journal of Human Genetics advance online publication, May 14, 2008. doi:10.1038/ejhg.2008.93

Authors: Elina Rantanen, Marja Hietala, Ulf Kristoffersson, Irmgard Nippert, Jörg Schmidtke, Jorge Sequeiros & Helena Kääriäinen

MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression

Suzanna Gerarda Maria Frints — April 9, 2008

MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression

European Journal of Human Genetics advance online publication, April 9, 2008. doi:10.1038/ejhg.2008.66

Authors: Suzanna Gerarda Maria Frints, Steffen Lenzner, Mareike Bauters, Lars Riff Jensen, Hilde Van Esch, Vincent des Portes, Ute Moog, Merryn Victor Erik Macville, Kees van Roozendaal, Constance Theresia Rimbertha Maria Schrander-Stumpel, Andreas Tzschach, Peter Marynen, Jean-Pierre Fryns, Ben Hamel, Hans van Bokhoven, Jamel Chelly, Chérif Beldjord, Gillian Turner, Jozef Gecz, Claude Moraine, Martine Raynaud, Hans Hilger Ropers, Guy Froyen & Andreas Walter Kuss

Familial aggregation of preeclampsia and intrauterine growth restriction in a genetically isolated population in The Netherlands

Anne L Berends — July 9, 2008

Familial aggregation of preeclampsia and intrauterine growth restriction in a genetically isolated population in The Netherlands

European Journal of Human Genetics advance online publication, July 9, 2008. doi:10.1038/ejhg.2008.118

Authors: Anne L Berends, Eric A Steegers, Aaron Isaacs, Y S Aulchenko, Fan Liu, Christianne J de Groot, Ben A Oostra & Cornelia M van Duijn

Genetic origin of the Swedish Sami inferred from HLA class I and class II allele frequencies

Åsa Johansson — May 14, 2008

Genetic origin of the Swedish Sami inferred from HLA class I and class II allele frequencies

European Journal of Human Genetics advance online publication, May 14, 2008. doi:10.1038/ejhg.2008.88

Authors: Åsa Johansson, Max Ingman, Steven J Mack, Henry Erlich & Ulf Gyllensten

Influence of MUC1 genetic variation on prostate cancer risk and survival

Rona J Strawbridge — July 16, 2008

Influence of MUC1 genetic variation on prostate cancer risk and survival

European Journal of Human Genetics advance online publication, July 16, 2008. doi:10.1038/ejhg.2008.131

Authors: Rona J Strawbridge, Monica Nister, Kerstin Brismar, Chunde Li & Sara Lindström

Deciphering the genetics of hereditary non-syndromic colorectal cancer

Eli Papaemmanuil — July 16, 2008

Deciphering the genetics of hereditary non-syndromic colorectal cancer

European Journal of Human Genetics advance online publication, July 16, 2008. doi:10.1038/ejhg.2008.129

Authors: Eli Papaemmanuil, Luis Carvajal-Carmona, Gabrielle S Sellick, Zoe Kemp, Emily Webb, Sarah Spain, Kate Sullivan, Ella Barclay, Steven Lubbe, Emma Jaeger, Jayaram Vijayakrishnan, Peter Broderick, Maggie Gorman, Lynn Martin, Anneke Lucassen, D Timothy Bishop, D Gareth Evans, Eamonn R Maher, Verena Steinke, Nils Rahner, Hans K Schackert, Timm O Goecke, Elke Holinski-Feder, Peter Propping, Tom Van Wezel, Juul Wijnen, Jean-Baptiste Cazier, Huw Thomas, Richard S Houlston & Ian Tomlinson

Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer

Rob W J Collin — June 25, 2008

Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer

European Journal of Human Genetics advance online publication, June 25, 2008. doi:10.1038/ejhg.2008.110

Authors: Rob W J Collin, Anne-Martine R de Heer, Jaap Oostrik, Robert-Jan Pauw, Rutger F Plantinga, Patrick L Huygen, Ronald Admiraal, Arjan P M de Brouwer, Tim M Strom, Cor W R J Cremers & Hannie Kremer

Cox proportional hazards models have more statistical power than logistic regression models in cross-sectional genetic association studies

Jeroen B van der Net — April 2, 2008

Cox proportional hazards models have more statistical power than logistic regression models in cross-sectional genetic association studies

European Journal of Human Genetics advance online publication, April 2, 2008. doi:10.1038/ejhg.2008.59

Authors: Jeroen B van der Net, A Cecile J W Janssens, Marinus J C Eijkemans, John J P Kastelein, Eric J G Sijbrands & Ewout W Steyerberg

What process attributes of clinical genetics services could maximise patient benefits?

Marion McAllister — July 2, 2008

What process attributes of clinical genetics services could maximise patient benefits?

European Journal of Human Genetics advance online publication, July 2, 2008. doi:10.1038/ejhg.2008.121

Authors: Marion McAllister, Katherine Payne, Rhona MacLeod, Stuart Nicholls, Dian Donnai & Linda Davies

Is paternal age playing a role in the changing prevalence of Klinefelter syndrome?

Amy S Herlihy — May 21, 2008

Is paternal age playing a role in the changing prevalence of Klinefelter syndrome?

European Journal of Human Genetics advance online publication, May 21, 2008. doi:10.1038/ejhg.2008.96

Authors: Amy S Herlihy & Jane Halliday

Frequent mutations in the 3′-untranslated region of IFNGR1 lack functional impairment in microsatellite-unstable colorectal tumours

Jan Willem F Dierssen — April 16, 2008

Frequent mutations in the 3′-untranslated region of IFNGR1 lack functional impairment in microsatellite-unstable colorectal tumours

European Journal of Human Genetics advance online publication, April 16, 2008. doi:10.1038/ejhg.2008.81

Authors: Jan Willem F Dierssen, Marjo van Puijenbroek, David A Dezentjé, Gert Jan Fleuren, Cees J Cornelisse, Tom van Wezel, Rienk Offringa & Hans Morreau

Confirmation of the genetic association between the U2AF homology motif (UHM) kinase 1 (UHMK1) gene and schizophrenia on chromosome 1q23.3

Vinay Puri — April 16, 2008

Confirmation of the genetic association between the U2AF homology motif (UHM) kinase 1 (UHMK1) gene and schizophrenia on chromosome 1q23.3

European Journal of Human Genetics advance online publication, April 16, 2008. doi:10.1038/ejhg.2008.76

Authors: Vinay Puri, Andrew McQuillin, Susmita Datta, Khalid Choudhury, Jonathan Pimm, Srinivasa Thirumalai, Robert Krasucki, Jacob Lawrence, Digby Quested, Nicholas Bass, Caroline Crombie, Gillian Fraser, Nicholas Walker, Helen Moorey, Manaan Kar Ray, Akeem Sule, David Curtis, David St Clair & Hugh Gurling

A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?

Helen Swalwell — April 9, 2008

A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?

European Journal of Human Genetics advance online publication, April 9, 2008. doi:10.1038/ejhg.2008.65

Authors: Helen Swalwell, Emma L Blakely, Ruth Sutton, Kasia Tonska, Matthias Elstner, Langping He, Tanja Taivassalo, Dennis K Burns, Douglass M Turnbull, Ronald G Haller, Mercy M Davidson & Robert W Taylor

Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease

Camilla Filoni — June 18, 2008

Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease

European Journal of Human Genetics advance online publication, June 18, 2008. doi:10.1038/ejhg.2008.109

Authors: Camilla Filoni, Anna Caciotti, Laura Carraresi, Maria Alice Donati, Renzo Mignani, Rossella Parini, Mirella Filocamo, Fausto Soliani, Lisa Simi, Renzo Guerrini, Enrico Zammarchi & Amelia Morrone

Northwest Siberian Khanty and Mansi in the junction of West and East Eurasian gene pools as revealed by uniparental markers

Ville N Pimenoff — May 28, 2008

Northwest Siberian Khanty and Mansi in the junction of West and East Eurasian gene pools as revealed by uniparental markers

European Journal of Human Genetics advance online publication, May 28, 2008. doi:10.1038/ejhg.2008.101

Authors: Ville N Pimenoff, David Comas, Jukka U Palo, Galina Vershubsky, Andrew Kozlov & Antti Sajantila

Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe

Katrin Koehler — July 16, 2008

Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe

European Journal of Human Genetics advance online publication, July 16, 2008. doi:10.1038/ejhg.2008.132

Authors: Katrin Koehler, Knut Brockmann, Manuela Krumbholz, Barbara Kind, Carsten Bönnemann, Jutta Gärtner & Angela Huebner

Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype

Maria Clara Bonaglia — July 23, 2008

Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype

European Journal of Human Genetics advance online publication, July 23, 2008. doi:10.1038/ejhg.2008.119

Authors: Maria Clara Bonaglia, Roberto Ciccone, Giorgio Gimelli, Stefania Gimelli, Susan Marelli, Joke Verheij, Roberto Giorda, Rita Grasso, Renato Borgatti, Filomena Pagone, Laura Rodrìguez, Maria-Luisa Martinez-Frias, Conny van Ravenswaaij & Orsetta Zuffardi

Identification of human haploinsufficient genes and their genomic proximity to segmental duplications

Vinh T Dang — June 4, 2008

Identification of human haploinsufficient genes and their genomic proximity to segmental duplications

European Journal of Human Genetics advance online publication, June 4, 2008. doi:10.1038/ejhg.2008.111

Authors: Vinh T Dang, Karin S Kassahn, Andrés Esteban Marcos & Mark A Ragan

Twenty-year trends in prevalence and survival of Down syndrome

Claire Irving — July 2, 2008

Twenty-year trends in prevalence and survival of Down syndrome

European Journal of Human Genetics advance online publication, July 2, 2008. doi:10.1038/ejhg.2008.122

Authors: Claire Irving, Anna Basu, Sam Richmond, John Burn & Christopher Wren

Evaluation of HapMap data in six populations of European descent

Per E Lundmark — April 9, 2008

Evaluation of HapMap data in six populations of European descent

European Journal of Human Genetics advance online publication, April 9, 2008. doi:10.1038/ejhg.2008.77

Authors: Per E Lundmark, Ulrika Liljedahl, Dorret I Boomsma, Heikki Mannila, Nicholas G Martin, Aarno Palotie, Leena Peltonen, Markus Perola, Tim D Spector & Ann-Christine Syvänen

Reply to Herlihy and Halliday

Joan Morris — May 21, 2008

Reply to Herlihy and Halliday

European Journal of Human Genetics advance online publication, May 21, 2008. doi:10.1038/ejhg.2008.99

Author: Joan Morris

Preferential reciprocal transfer of paternal/maternal DLK1 alleles to obese children: first evidence of polar overdominance in humans

Anne-Kathrin Wermter — April 9, 2008

Preferential reciprocal transfer of paternal/maternal DLK1 alleles to obese children: first evidence of polar overdominance in humans

European Journal of Human Genetics advance online publication, April 9, 2008. doi:10.1038/ejhg.2008.64

Authors: Anne-Kathrin Wermter, André Scherag, David Meyre, Kathrin Reichwald, Emmanuelle Durand, Thuy Trang Nguyen, Kerstin Koberwitz, Peter Lichtner, Thomas Meitinger, Helmut Schäfer, Anke Hinney, Philippe Froguel, Johannes Hebebrand & Günter Brönner

A missense mutation in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome

Louise S Bicknell — May 14, 2008

A missense mutation in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome

European Journal of Human Genetics advance online publication, May 14, 2008. doi:10.1038/ejhg.2008.91

Authors: Louise S Bicknell, James Pitt, Salim Aftimos, Ram Ramadas, Marion A Maw & Stephen P Robertson

Replication of the Wellcome Trust genome-wide association study of essential hypertension: the Family Blood Pressure Program

Georg B Ehret — June 4, 2008

Replication of the Wellcome Trust genome-wide association study of essential hypertension: the Family Blood Pressure Program

European Journal of Human Genetics advance online publication, June 4, 2008. doi:10.1038/ejhg.2008.102

Authors: Georg B Ehret, Alanna C Morrison, Ashley A O'Connor, Megan L Grove, Lisa Baird, Karen Schwander, Alan Weder, Richard S Cooper, D C Rao, Steven C Hunt, Eric Boerwinkle & Aravinda Chakravarti

Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24

Kate V Everett — May 14, 2008

Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24

European Journal of Human Genetics advance online publication, May 14, 2008. doi:10.1038/ejhg.2008.86

Authors: Kate V Everett, Francesca Capon, Christina Georgoula, Barry A Chioza, Ashley Reece, Mervyn Jaswon, Agostino Pierro, Prem Puri, R Mark Gardiner & Eddie MK Chung

The copy number variant involving part of the α7 nicotinic receptor gene contains a polymorphic inversion

Rachel H Flomen — June 11, 2008

The copy number variant involving part of the α7 nicotinic receptor gene contains a polymorphic inversion

European Journal of Human Genetics advance online publication, June 11, 2008. doi:10.1038/ejhg.2008.112

Authors: Rachel H Flomen, Angela F Davies, Marta Di Forti, Caterina La Cascia, Caroline Mackie-Ogilvie, Robin Murray & Andrew J Makoff

Catechol O-methyl transferase and dopamine D2 receptor gene polymorphisms: evidence of positive heterosis and gene–gene interaction on working memory functioning

M Florencia Gosso — April 2, 2008

Catechol O-methyl transferase and dopamine D2 receptor gene polymorphisms: evidence of positive heterosis and gene–gene interaction on working memory functioning

European Journal of Human Genetics advance online publication, April 2, 2008. doi:10.1038/ejhg.2008.57

Authors: M Florencia Gosso, Eco J C de Geus, Tinca J C Polderman, Dorret I Boomsma, Peter Heutink & Danielle Posthuma