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Clinical Pharmacology & Therapeutics, the most cited journal publishing primary investigation in pharmacology and pharmacy, is the authoritative, cross-disciplinary journal in experimental and clinical medicine devoted to publishing advances in the nature, action, efficacy and evaluation of therapeutics.

Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias 24 Feb 2010

Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias

European Journal of Human Genetics advance online publication, February 24, 2010. doi:10.1038/ejhg.2010.10

Authors: Jorge Sequeiros, Sara Seneca & Joanne Martindale

The medical geneticist as expert in the transgenerational and developmental aspects of diseases 30 Jun 2010

The medical geneticist as expert in the transgenerational and developmental aspects of diseases

European Journal of Human Genetics advance online publication, June 30, 2010. doi:10.1038/ejhg.2010.100

Authors: György Kosztolányi & Jean-Jacques Cassiman

A standardized framework for the validation and verification of clinical molecular genetic tests 28 Jul 2010

A standardized framework for the validation and verification of clinical molecular genetic tests

European Journal of Human Genetics advance online publication, July 28, 2010. doi:10.1038/ejhg.2010.101

Authors: Christopher J Mattocks, Michael A Morris, Gert Matthijs, Elfriede Swinnen, Anniek Corveleyn, Els Dequeker, Clemens R Müller, Victoria Pratt & Andrew Wallace

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader--Willi syndrome 30 Jun 2010

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome

European Journal of Human Genetics advance online publication, June 30, 2010. doi:10.1038/ejhg.2010.102

Authors: Angela L Duker, Blake C Ballif, Erawati V Bawle, Richard E Person, Sangeetha Mahadevan, Sarah Alliman, Regina Thompson, Ryan Traylor, Bassem A Bejjani, Lisa G Shaffer, Jill A Rosenfeld, Allen N Lamb & Trilochan Sahoo

Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency 21 Jul 2010

Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency

European Journal of Human Genetics advance online publication, July 21, 2010. doi:10.1038/ejhg.2010.105

Authors: Janine Meienberg, Marianne Rohrbach, Stefan Neuenschwander, Katharina Spanaus, Cecilia Giunta, Sira Alonso, Eliane Arnold, Caroline Henggeler, Stephan Regenass, Andrea Patrignani, Silvia Azzarello-Burri, Bernhard Steiner, Anders OH Nygren, Thierry Carrel, Beat Steinmann & Gábor Mátyás

Hypothetical and factual willingness to participate in biobank research 21 Jul 2010

Hypothetical and factual willingness to participate in biobank research

European Journal of Human Genetics advance online publication, July 21, 2010. doi:10.1038/ejhg.2010.106

Authors: Linus Johnsson, Gert Helgesson, Thorunn Rafnar, Ingibjorg Halldorsdottir, Kee-Seng Chia, Stefan Eriksson & Mats G Hansson

The PSEN1 I143T mutation in a Swedish family with Alzheimer's disease: clinical report and quantification of Aβ in different brain regions 14 Jul 2010

The PSEN1 I143T mutation in a Swedish family with Alzheimer's disease: clinical report and quantification of Aβ in different brain regions

European Journal of Human Genetics advance online publication, July 14, 2010. doi:10.1038/ejhg.2010.107

Authors: Lina Keller, Hedvig Welander, Huei-Hsin Chiang, Lars O Tjernberg, Inger Nennesmo, Åsa K Wallin & Caroline Graff

Genetic male infertility and mutation of CATSPER ion channels 21 Jul 2010

Genetic male infertility and mutation of CATSPER ion channels

European Journal of Human Genetics advance online publication, July 21, 2010. doi:10.1038/ejhg.2010.108

Authors: Michael S Hildebrand, Matthew R Avenarius, Marc Fellous, Yuzhou Zhang, Nicole C Meyer, Jana Auer, Catherine Serres, Kimia Kahrizi, Hossein Najmabadi, Jacques S Beckmann & Richard J H Smith

Clinical utility gene card for: Lesch--Nyhan syndrome 21 Jul 2010

Clinical utility gene card for: Lesch–Nyhan syndrome

European Journal of Human Genetics advance online publication, July 21, 2010. doi:10.1038/ejhg.2010.109

Authors: Rosa J Torres, Juan G Puig & Irène Ceballos-Picot

Clinical utility gene card for: Holoprosencephaly 21 Jul 2010

Clinical utility gene card for: Holoprosencephaly

European Journal of Human Genetics advance online publication, July 21, 2010. doi:10.1038/ejhg.2010.110

Authors: Christèle Dubourg, Véronique David, Andrea Gropman, Sandra Mercier, Maximilian Muenke, Sylvie Odent, Daniel E Pineda-Alvarez & Erich Roessler

Gene expression associated with the onset of hearing detected by differential display in rat organ of Corti 21 Jul 2010

Gene expression associated with the onset of hearing detected by differential display in rat organ of Corti

European Journal of Human Genetics advance online publication, July 21, 2010. doi:10.1038/ejhg.2010.111

Authors: Ellen Reisinger, David Meintrup, Dominik Oliver & Bernd Fakler

NordicDB: a Nordic pool and portal for genome-wide control data 28 Jul 2010

NordicDB: a Nordic pool and portal for genome-wide control data

European Journal of Human Genetics advance online publication, July 28, 2010. doi:10.1038/ejhg.2010.112

Authors: Monica Leu, Keith Humphreys, Ida Surakka, Emil Rehnberg, Juha Muilu, Päivi Rosenström, Peter Almgren, Juha Jääskeläinen, Richard P Lifton, Kirsten Ohm Kyvik, Jaakko Kaprio, Nancy L Pedersen, Aarno Palotie, Per Hall, Henrik Grönberg, Leif Groop, Leena Peltonen, Juni Palmgren & Samuli Ripatti

Confirmation of association between multiple sclerosis and CYP27B1 21 Jul 2010

Confirmation of association between multiple sclerosis and CYP27B1

European Journal of Human Genetics advance online publication, July 21, 2010. doi:10.1038/ejhg.2010.113

Authors: Emilie Sundqvist, Maria Bäärnhielm, Lars Alfredsson, Jan Hillert, Tomas Olsson & Ingrid Kockum

Comparing family members' motivations and attitudes towards genetic testing for hereditary breast and ovarian cancer: a qualitative analysis 21 Jul 2010

Comparing family members’ motivations and attitudes towards genetic testing for hereditary breast and ovarian cancer: a qualitative analysis

European Journal of Human Genetics advance online publication, July 21, 2010. doi:10.1038/ejhg.2010.114

Authors: Caroline Dancyger, Jonathan A Smith, Chris Jacobs, Melissa Wallace & Susan Michie

Genotype--phenotype relationship in three cases with overlapping 19p13.12 microdeletions 21 Jul 2010

Genotype–phenotype relationship in three cases with overlapping 19p13.12 microdeletions

European Journal of Human Genetics advance online publication, July 21, 2010. doi:10.1038/ejhg.2010.115

Authors: Maria C Bonaglia, Susan Marelli, Francesca Novara, Simona Commodaro, Renato Borgatti, Grazia Minardo, Luigi Memo, Elisabeth Mangold, Silvana Beri, Claudio Zucca, Daniele Brambilla, Massimo Molteni, Roberto Giorda, Ruthild G Weber & Orsetta Zuffardi

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q 21 Jul 2010

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q

European Journal of Human Genetics advance online publication, July 21, 2010. doi:10.1038/ejhg.2010.116

Authors: Piranit N Kantaputra, Eva Klopocki, Bianca P Hennig, Verayuth Praphanphoj, Cédric Le Caignec, Bertrand Isidor, Mei L Kwee, Deborah J Shears & Stefan Mundlos

Potential role of TCF7L2 gene variants on cardiac sympathetic/parasympathetic activity 21 Jul 2010

Potential role of TCF7L2 gene variants on cardiac sympathetic/parasympathetic activity

European Journal of Human Genetics advance online publication, July 21, 2010. doi:10.1038/ejhg.2010.117

Authors: Virginia Boccardi, Immacolata Ambrosino, Michela Papa, Daniela Fiore, Maria Rosaria Rizzo, Giuseppe Paolisso & Michelangela Barbieri

X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency 28 Jul 2010

X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency

European Journal of Human Genetics advance online publication, July 28, 2010. doi:10.1038/ejhg.2010.118

Authors: Judit García-Villoria, Laura Gort, Irene Madrigal, Carme Fons, Cristina Fernández, Aleix Navarro-Sastre, Montserrat Milà, Paz Briones, Angeles García-Cazorla, Jaume Campistol & Antonia Ribes

The role of disease perceptions and results sharing in psychological adaptation after genetic susceptibility testing: the REVEAL Study 28 Jul 2010

The role of disease perceptions and results sharing in psychological adaptation after genetic susceptibility testing: the REVEAL Study

European Journal of Human Genetics advance online publication, July 28, 2010. doi:10.1038/ejhg.2010.119

Authors: Sato Ashida, Laura M Koehly, J Scott Roberts, Clara A Chen, Susan Hiraki & Robert C Green

Nicotinic α5 receptor subunit mRNA expression is associated with distant 5′ upstream polymorphisms 11 Aug 2010

Nicotinic α5 receptor subunit mRNA expression is associated with distant 5′ upstream polymorphisms

European Journal of Human Genetics advance online publication, August 11, 2010. doi:10.1038/ejhg.2010.120

Authors: Ryan M Smith, Houda Alachkar, Audrey C Papp, Danxin Wang, Deborah C Mash, Jen-Chyong Wang, Laura J Bierut & Wolfgang Sadee

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein--Taybi syndrome detected by aCGH 18 Aug 2010

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein–Taybi syndrome detected by aCGH

European Journal of Human Genetics advance online publication, August 18, 2010. doi:10.1038/ejhg.2010.121

Authors: Anne Chun-Hui Tsai, Cherilyn J Dossett, Carol S Walton, Andrea E Cramer, Patti A Eng, Beata A Nowakowska, Amber N Pursley, Pawel Stankiewicz, Joanna Wiszniewska & Sau Wai Cheung

Lack of association between a new tag SNP in the FTO gene and BMI in Czech--Slavonic population 28 Jul 2010

Lack of association between a new tag SNP in the FTO gene and BMI in Czech–Slavonic population

European Journal of Human Genetics advance online publication, July 28, 2010. doi:10.1038/ejhg.2010.122

Authors: Dana Dlouha, Vera Adamkova, Vera Lanska & Jaroslav A Hubacek

Reply to Dlouha et al 28 Jul 2010

Reply to Dlouha et al

European Journal of Human Genetics advance online publication, July 28, 2010. doi:10.1038/ejhg.2010.123

Authors: Anke Tönjes, Peter Kovacs, Katherine Elliott, Eleftheria Zeggini, Mark I McCarthy & Michael Stumvoll

Rubinstein--Taybi syndrome (CREBBP, EP300) 28 Jul 2010

Rubinstein–Taybi syndrome (CREBBP, EP300)

European Journal of Human Genetics advance online publication, July 28, 2010. doi:10.1038/ejhg.2010.124

Authors: Martine van Belzen, Oliver Bartsch, Didier Lacombe, Dorien J M Peters & Raoul C M Hennekam

Genetic variability at the PARK16 locus 4 Aug 2010

Genetic variability at the PARK16 locus

European Journal of Human Genetics advance online publication, August 4, 2010. doi:10.1038/ejhg.2010.125

Authors: Arianna Tucci, Mike A Nalls, Henry Houlden, Tamas Revesz, Andrew B Singleton, Nicholas W Wood, John Hardy & Coro Paisán-Ruiz

Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype 4 Aug 2010

Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype

European Journal of Human Genetics advance online publication, August 4, 2010. doi:10.1038/ejhg.2010.126

Authors: Pierre Cacciagli, Marie-Reine Haddad, Cécile Mignon-Ravix, Bilal El-Waly, Anne Moncla, Chantal Missirian, Brigitte Chabrol & Laurent Villard

Type II familial synpolydactyly: report on two families with an emphasis on variations of expression 18 Aug 2010

Type II familial synpolydactyly: report on two families with an emphasis on variations of expression

European Journal of Human Genetics advance online publication, August 18, 2010. doi:10.1038/ejhg.2010.127

Author: Mohammad M Al-Qattan

Genetic diversity on the Comoros Islands shows early seafaring as major determinant of human biocultural evolution in the Western Indian Ocean 11 Aug 2010

Genetic diversity on the Comoros Islands shows early seafaring as major determinant of human biocultural evolution in the Western Indian Ocean

European Journal of Human Genetics advance online publication, August 11, 2010. doi:10.1038/ejhg.2010.128

Authors: Said Msaidie, Axel Ducourneau, Gilles Boetsch, Guy Longepied, Kassim Papa, Claude Allibert, Ali Ahmed Yahaya, Jacques Chiaroni & Michael J Mitchell

Statement of the ESHG on direct-to-consumer genetic testing for health-related purposes 25 Aug 2010

Statement of the ESHG on direct-to-consumer genetic testing for health-related purposes

European Journal of Human Genetics advance online publication, August 25, 2010. doi:10.1038/ejhg.2010.129

Author:

FGF21 signalling pathway and metabolic traits -- genetic association analysis 18 Aug 2010

FGF21 signalling pathway and metabolic traits – genetic association analysis

European Journal of Human Genetics advance online publication, August 18, 2010. doi:10.1038/ejhg.2010.130

Authors: Bernhard M Kaess, Timothy A Barnes, Klaus Stark, Fadi J Charchar, Dawn Waterworth, Kijoung Song, William Y S Wang, Peter Vollenweider, Gerard Waeber, Vincent Mooser, Ewa Zukowska-Szczechowska, Nilesh J Samani, Christian Hengstenberg & Maciej Tomaszewski

FTO genotype and adiposity in children: physical activity levels influence the effect of the risk genotype in adolescent males 18 Aug 2010

FTO genotype and adiposity in children: physical activity levels influence the effect of the risk genotype in adolescent males

European Journal of Human Genetics advance online publication, August 18, 2010. doi:10.1038/ejhg.2010.131

Authors: Robert A Scott, Mark E S Bailey, Colin N Moran, Richard H Wilson, Noriyuki Fuku, Masashi Tanaka, Athanasios Tsiokanos, Athanasios Z Jamurtas, Evangelia Grammatikaki, George Moschonis, Yannis Manios & Yannis P Pitsiladis

Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3 11 Aug 2010

Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

European Journal of Human Genetics advance online publication, August 11, 2010. doi:10.1038/ejhg.2010.132

Authors: Kimia Kahrizi, Cougar Hao Hu, Masoud Garshasbi, Seyedeh Sedigheh Abedini, Shirin Ghadami, Roxana Kariminejad, Reinhard Ullmann, Wei Chen, H-Hilger Ropers, Andreas W Kuss, Hossein Najmabadi & Andreas Tzschach

Genetic marker polymorphisms on chromosome 8q24 and prostate cancer in the Dutch population: DG8S737 may not be the causative variant 11 Aug 2010

Genetic marker polymorphisms on chromosome 8q24 and prostate cancer in the Dutch population: DG8S737 may not be the causative variant

European Journal of Human Genetics advance online publication, August 11, 2010. doi:10.1038/ejhg.2010.133

Authors: Maurice P Zeegers, Humera S Khan, Leo J Schouten, Boukje A C van Dijk, R Alexandra Goldbohm, Jack Schalken, Shahin Shajahan, Alexander Pearlman, Carole Oddoux, Piet A van den Brandt & Harry Ostrer

Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database 18 Aug 2010

Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database

European Journal of Human Genetics advance online publication, August 18, 2010. doi:10.1038/ejhg.2010.134

Authors: Ofir T Betsalel, Efraim H Rosenberg, Ligia S Almeida, Tjitske Kleefstra, Charles E Schwartz, Vassili Valayannopoulos, Omar Abdul-Rahman, Nicola Poplawski, Laura Vilarinho, Philipp Wolf, Johan T den Dunnen, Cornelis Jakobs & Gajja S Salomons

Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome 25 Aug 2010

Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome

European Journal of Human Genetics advance online publication, August 25, 2010. doi:10.1038/ejhg.2010.135

Authors: Malcolm Hawkins, Jennifer Boyle, Kathleen E Wright, Rob Elles, Simon C Ramsden, Anna O'Grady, Michael Sweeney, David E Barton, Trent Burgess, Melanie Moore, Chris Burns, Glyn Stacey, Elaine Gray, Paul Metcalfe & J Ross Hawkins

Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3 18 Aug 2010

Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3

European Journal of Human Genetics advance online publication, August 18, 2010. doi:10.1038/ejhg.2010.136

Authors: Siddharth Banka, Elena Chervinsky, William G Newman, Yanick J Crow, Shay Yeganeh, Joanne Yacobovich, Dian Donnai & Stavit Shalev

p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study 18 Aug 2010

p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study

European Journal of Human Genetics advance online publication, August 18, 2010. doi:10.1038/ejhg.2010.137

Authors: Céline René, Damien Paulet, Emmanuelle Girodon, Catherine Costa, Guy Lalau, Julie Leclerc, Faïza Cabet-Bey, Thierry Bienvenu, Martine Blayau, Albert Iron, Hervé Mittre, Delphine Feldmann, Caroline Guittard, Mireille Claustres & Marie des Georges

Cervix smear abnormalities: linking pathology data in female twins, their mothers and sisters 18 Aug 2010

Cervix smear abnormalities: linking pathology data in female twins, their mothers and sisters

European Journal of Human Genetics advance online publication, August 18, 2010. doi:10.1038/ejhg.2010.139

Authors: Jacqueline M Vink, Folkert J van Kemenade, Chris J L M Meijer, Mariel K Casparie, Gerrit A Meijer & Dorret I Boomsma

Alternative splice variants of the USH3A gene Clarin 1 (CLRN1) 18 Aug 2010

Alternative splice variants of the USH3A gene Clarin 1 (CLRN1)

European Journal of Human Genetics advance online publication, August 18, 2010. doi:10.1038/ejhg.2010.140

Authors: Hanna Västinsalo, Reetta Jalkanen, Astra Dinculescu, Juha Isosomppi, Scott Geller, John G Flannery, William W Hauswirth & Eeva-Marja Sankila

A genomic analysis identifies a novel component in the genetic structure of sub-Saharan African populations 25 Aug 2010

A genomic analysis identifies a novel component in the genetic structure of sub-Saharan African populations

European Journal of Human Genetics advance online publication, August 25, 2010. doi:10.1038/ejhg.2010.141

Authors: Martin Sikora, Hafid Laayouni, Francesc Calafell, David Comas & Jaume Bertranpetit

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment 25 Aug 2010

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

European Journal of Human Genetics advance online publication, August 25, 2010. doi:10.1038/ejhg.2010.142

Authors: Nicola Brunetti-Pierri, Alex R Paciorkowski, Roberto Ciccone, Erika Della Mina, Maria Clara Bonaglia, Renato Borgatti, Christian P Schaaf, V Reid Sutton, Zhilian Xia, Naftha Jelluma, Claudia Ruivenkamp, Mary Bertrand, Thomy J L de Ravel, Parul Jayakar, Serena Belli, Katia Rocchetti, Chiara Pantaleoni, Stefano D'Arrigo, Jeff Hughes, Sau Wai Cheung, Orsetta Zuffardi & Pawel Stankiewicz

Distinguishing the 4qA and 4qB variants is essential for the diagnosis of facioscapulohumeral muscular dystrophy in the Chinese population 25 Aug 2010

Distinguishing the 4qA and 4qB variants is essential for the diagnosis of facioscapulohumeral muscular dystrophy in the Chinese population

European Journal of Human Genetics advance online publication, August 25, 2010. doi:10.1038/ejhg.2010.143

Authors: Zhi-Qiang Wang, Ning Wang, Silvere van der Maarel, Shen-Xing Murong & Zhi-Ying Wu

Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome 1 Sep 2010

Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome

European Journal of Human Genetics advance online publication, September 1, 2010. doi:10.1038/ejhg.2010.144

Authors: Mandy Krumbiegel, Francesca Pasutto, Ursula Schlötzer-Schrehardt, Steffen Uebe, Matthias Zenkel, Christian Y Mardin, Nicole Weisschuh, Daniela Paoli, Eugen Gramer, Christian Becker, Arif B Ekici, Bernhard HF Weber, Peter Nürnberg, Friedrich E Kruse & André Reis

A major Y-chromosome haplogroup R1b Holocene era founder effect in Central and Western Europe 25 Aug 2010

A major Y-chromosome haplogroup R1b Holocene era founder effect in Central and Western Europe

European Journal of Human Genetics advance online publication, August 25, 2010. doi:10.1038/ejhg.2010.146

Authors: Natalie M Myres, Siiri Rootsi, Alice A Lin, Mari Järve, Roy J King, Ildus Kutuev, Vicente M Cabrera, Elza K Khusnutdinova, Andrey Pshenichnov, Bayazit Yunusbayev, Oleg Balanovsky, Elena Balanovska, Pavao Rudan, Marian Baldovic, Rene J Herrera, Jacques Chiaroni, Julie Di Cristofaro, Richard Villems, Toomas Kivisild & Peter A Underhill

Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy 25 Aug 2010

Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy

European Journal of Human Genetics advance online publication, August 25, 2010. doi:10.1038/ejhg.2010.148

Authors: Patricia Anne Boyd, Maria Loane, Ester Garne, Babak Khoshnood & Helen Dolk

Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy 1 Sep 2010

Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy

European Journal of Human Genetics advance online publication, September 1, 2010. doi:10.1038/ejhg.2010.149

Authors: Laura L Klitten, Rikke S Møller, Kirstine Ravn, Helle Hjalgrim & Niels Tommerup

A screening methodology based on Random Forests to improve the detection of gene--gene interactions 12 May 2010

A screening methodology based on Random Forests to improve the detection of gene–gene interactions

European Journal of Human Genetics advance online publication, May 12, 2010. doi:10.1038/ejhg.2010.48

Authors: Lizzy De Lobel, Pierre Geurts, Guy Baele, Francesc Castro-Giner, Manolis Kogevinas & Kristel Van Steen

Genome-wide linkage analyses of hereditary prostate cancer families with colon cancer provide further evidence for a susceptibility locus on 15q11--q14 21 Apr 2010

Genome-wide linkage analyses of hereditary prostate cancer families with colon cancer provide further evidence for a susceptibility locus on 15q11–q14

European Journal of Human Genetics advance online publication, April 21, 2010. doi:10.1038/ejhg.2010.49

Authors: Liesel M FitzGerald, Shannon K McDonnell, Erin E Carlson, Wendy Langeberg, Laura M McIntosh, Kerry Deutsch, Elaine A Ostrander, Daniel J Schaid & Janet L Stanford

High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome 12 May 2010

High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome

European Journal of Human Genetics advance online publication, May 12, 2010. doi:10.1038/ejhg.2010.59

Authors: Veronica Parri, Eleni Katzaki, Vera Uliana, Francesca Scionti, Rossella Tita, Rosangela Artuso, Ilaria Longo, Renske Boschloo, Raymon Vijzelaar, Angelo Selicorni, Francesco Brancati, Bruno Dallapiccola, Leopoldo Zelante, Christian P Hamel, Pierre Sarda, Seema R Lalani, Rita Grasso, Sabrina Buoni, Joussef Hayek, Laurent Servais, Bert B A de Vries, Nelly Georgoudi, Sheena Nakou, Michael B Petersen, Francesca Mari, Alessandra Renieri & Francesca Ariani

A powerful score test to detect positive selection in genome-wide scans 12 May 2010

A powerful score test to detect positive selection in genome-wide scans

European Journal of Human Genetics advance online publication, May 12, 2010. doi:10.1038/ejhg.2010.60

Authors: Ming Zhong, Kenneth Lange, Jeanette C Papp & Ruzong Fan

Genomic profile of copy number variants on the short arm of human chromosome 8 12 May 2010

Genomic profile of copy number variants on the short arm of human chromosome 8

European Journal of Human Genetics advance online publication, May 12, 2010. doi:10.1038/ejhg.2010.66

Authors: Shihui Yu, Stephanie Fiedler, Andrew Stegner & William D Graf

Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening 26 May 2010

Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening

European Journal of Human Genetics advance online publication, May 26, 2010. doi:10.1038/ejhg.2010.78

Authors: Belinda J McClaren, Sylvia A Metcalfe, MaryAnne Aitken, R John Massie, Obioha C Ukoumunne & David J Amor

New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish 26 May 2010

New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish

European Journal of Human Genetics advance online publication, May 26, 2010. doi:10.1038/ejhg.2010.79

Authors: Deborah J Morris-Rosendahl, Reeval Segel, A Peter Born, Christoph Conrad, Bart Loeys, Susan Sklower Brooks, Laura Müller, Christine Zeschnigk, Christina Botti, Ron Rabinowitz, Gökhan Uyanik, Marc-Antoine Crocq, Uwe Kraus, Ingrid Degen & Fran Faes

EMQN Best Practice Guidelines for molecular genetic testing of SCAs 24 Feb 2010

EMQN Best Practice Guidelines for molecular genetic testing of SCAs

European Journal of Human Genetics advance online publication, February 24, 2010. doi:10.1038/ejhg.2010.8

Authors: Jorge Sequeiros, Joanne Martindale & Sara Seneca

Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies 26 May 2010

Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies

European Journal of Human Genetics advance online publication, May 26, 2010. doi:10.1038/ejhg.2010.80

Authors: Alix de Becdelièvre, Catherine Costa, Annick LeFloch, Marie Legendre, Jean-Marie Jouannic, Jacqueline Vigneron, Jean-Luc Bresson, Stéphanie Gobin, Josiane Martin, Michel Goossens & Emmanuelle Girodon

A novel recessive GUCY2D mutation causing cone--rod dystrophy and not Leber's congenital amaurosis 2 Jun 2010

A novel recessive GUCY2D mutation causing cone–rod dystrophy and not Leber's congenital amaurosis

European Journal of Human Genetics advance online publication, June 2, 2010. doi:10.1038/ejhg.2010.81

Authors: Sibel A Ugur Iseri, Yusuf K Durlu & Aslihan Tolun

CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592 9 Jun 2010

CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592

European Journal of Human Genetics advance online publication, June 9, 2010. doi:10.1038/ejhg.2010.82

Authors: Elsa Nicolas, Yannick Poitelon, Eliane Chouery, Nabiha Salem, Nicolas Levy, André Mégarbané & Valérie Delague

Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase 16 Jun 2010

Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase

European Journal of Human Genetics advance online publication, June 16, 2010. doi:10.1038/ejhg.2010.83

Authors: Aviva Levitas, Emad Muhammad, Gali Harel, Ann Saada, Vered Chalifa Caspi, Esther Manor, John C Beck, Val Sheffield & Ruti Parvari

5q11.2 deletion in a patient with tracheal agenesis 16 Jun 2010

5q11.2 deletion in a patient with tracheal agenesis

European Journal of Human Genetics advance online publication, June 16, 2010. doi:10.1038/ejhg.2010.84

Authors: Elisabeth M de Jong, Hannie Douben, Bert H Eussen, Janine F Felix, Marja W Wessels, Pino J Poddighe, Peter G J Nikkels, Ronald R de Krijger, Dick Tibboel & Annelies de Klein

A qualitative study exploring genetic counsellors' experiences of counselling children 9 Jun 2010

A qualitative study exploring genetic counsellors’ experiences of counselling children

European Journal of Human Genetics advance online publication, June 9, 2010. doi:10.1038/ejhg.2010.86

Authors: Fiona Ulph, James Leong, Cris Glazebrook & Ellen Townsend

Population structure and genome-wide patterns of variation in Ireland and Britain 23 Jun 2010

Population structure and genome-wide patterns of variation in Ireland and Britain

European Journal of Human Genetics advance online publication, June 23, 2010. doi:10.1038/ejhg.2010.87

Authors: Colm T O'Dushlaine, Derek Morris, Valentina Moskvina, George Kirov, International Schizophrenia Consortium, Michael Gill, Aiden Corvin, James F Wilson & Gianpiero L Cavalleri

Chadic languages and Y haplogroups 23 Jun 2010

Chadic languages and Y haplogroups

European Journal of Human Genetics advance online publication, June 23, 2010. doi:10.1038/ejhg.2010.88

Author: Andrew Lancaster

Reply to Lancaster 23 Jun 2010

Reply to Lancaster

European Journal of Human Genetics advance online publication, June 23, 2010. doi:10.1038/ejhg.2010.89

Authors: Fulvio Cruciani, Beniamino Trombetta, Daniele Sellitto, Andrea Massaia, Giovanni Destro-Bisol, Elizabeth Watson, Eliane Beraud Colomb, Jean-Michel Dugoujon, Pedro Moral & Rosaria Scozzari

Carrier screening for Beta-thalassaemia: a review of international practice 23 Jun 2010

Carrier screening for Beta-thalassaemia: a review of international practice

European Journal of Human Genetics advance online publication, June 23, 2010. doi:10.1038/ejhg.2010.90

Authors: Nicole E Cousens, Clara L Gaff, Sylvia A Metcalfe & Martin B Delatycki

Co-expression of FBN1 with mesenchyme-specific genes in mouse cell lines: implications for phenotypic variability in Marfan syndrome 16 Jun 2010

Co-expression of FBN1 with mesenchyme-specific genes in mouse cell lines: implications for phenotypic variability in Marfan syndrome

European Journal of Human Genetics advance online publication, June 16, 2010. doi:10.1038/ejhg.2010.91

Authors: Kim M Summers, Sobia Raza, Erik van Nimwegen, Thomas C Freeman & David A Hume

Genes predict village of origin in rural Europe 23 Jun 2010

Genes predict village of origin in rural Europe

European Journal of Human Genetics advance online publication, June 23, 2010. doi:10.1038/ejhg.2010.92

Authors: Colm O'Dushlaine, Ruth McQuillan, Michael E Weale, Daniel J M Crouch, Åsa Johansson, Yurii Aulchenko, Christopher S Franklin, Ozren Polašek, Christian Fuchsberger, Aiden Corvin, Andrew A Hicks, Veronique Vitart, Caroline Hayward, Sarah H Wild, Thomas Meitinger, Cornelia M van Duijn, Ulf Gyllensten, Alan F Wright, Harry Campbell, Peter P Pramstaller, Igor Rudan & James F Wilson

A single nucleotide polymorphism in APOA5 determines triglyceride levels in Hong Kong and Guangzhou Chinese 23 Jun 2010

A single nucleotide polymorphism in APOA5 determines triglyceride levels in Hong Kong and Guangzhou Chinese

European Journal of Human Genetics advance online publication, June 23, 2010. doi:10.1038/ejhg.2010.93

Authors: Chao Qiang Jiang, Bin Liu, Bernard MY Cheung, Tai Hing Lam, Jie Ming Lin, Ya Li Jin, Xiao Jun Yue, Kwok Leung Ong, Sidney Tam, Ka Sing Wong, Brian Tomlinson, Karen SL Lam & G Neil Thomas

A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1 23 Jun 2010

A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1

European Journal of Human Genetics advance online publication, June 23, 2010. doi:10.1038/ejhg.2010.94

Authors: Alice Marques-Pinheiro, Marie Marduel, Jean-Pierre Rabès, Martine Devillers, Ludovic Villéger, Delphine Allard, Jean Weissenbach, Maryse Guerin, Yassine Zair, Danièle Erlich, Claudine Junien, Arnold Munnich, Michel Krempf, Marianne Abifadel, Jean-Philippe Jaïs, Catherine Boileau & Mathilde Varret

Genome-wide gene expression profiling of the Angelman syndrome mice with Ube3a mutation 23 Jun 2010

Genome-wide gene expression profiling of the Angelman syndrome mice with Ube3a mutation

European Journal of Human Genetics advance online publication, June 23, 2010. doi:10.1038/ejhg.2010.95

Authors: Daren Low & Ken-Shiung Chen

Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency 23 Jun 2010

Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency

European Journal of Human Genetics advance online publication, June 23, 2010. doi:10.1038/ejhg.2010.96

Authors: Christopher W Carr, Daniel Moreno-De-Luca, Colette Parker, Holly H Zimmerman, Nikki Ledbetter, Christa Lese Martin, William B Dobyns & Omar A Abdul-Rahman

Genome-wide scan identifies a quantitative trait locus at 4p15.3 for serum urate 30 Jun 2010

Genome-wide scan identifies a quantitative trait locus at 4p15.3 for serum urate

European Journal of Human Genetics advance online publication, June 30, 2010. doi:10.1038/ejhg.2010.97

Authors: Nik Cummings, Thomas D Dyer, Navaratnam Kotea, Sudhir Kowlessur, Pierrot Chitson, Paul Zimmet, John Blangero & Jeremy B M Jowett

Dengue hemorrhagic fever is associated with polymorphisms in JAK1 30 Jun 2010

Dengue hemorrhagic fever is associated with polymorphisms in JAK1

European Journal of Human Genetics advance online publication, June 30, 2010. doi:10.1038/ejhg.2010.98

Authors: Luciano K Silva, Ronald E Blanton, Antonio R Parrado, Paulo S Melo, Vanessa G Morato, Eliana AG Reis, Juarez P Dias, Jesuina M Castro, Pedro FC Vasconcelos, Katrina AB Goddard, Maurício L Barreto, Mitermayer G Reis & M Glória Teixeira

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