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

JEAN B DAUSSET, 19 OCTOBER 1916–6 JUNE 2009

Jean-Louis Mandel — 2009-10-22

JEAN B DAUSSET, 19 OCTOBER 1916–6 JUNE 2009

European Journal of Human Genetics 17, 1365 (November 2009). doi:10.1038/ejhg.2009.150

Authors: Jean-Louis Mandel, Mark Lathrop & Howard M Cann

Angelman syndrome (AS, MIM 105830)

Griet Van Buggenhout — 2009-10-22

Angelman syndrome (AS, MIM 105830)

European Journal of Human Genetics 17, 1367 (November 2009). doi:10.1038/ejhg.2009.67

Authors: Griet Van Buggenhout & Jean-Pierre Fryns

Council of Europe adopts protocol on genetic testing for health purposes

Laurence Lwoff — 2009-10-22

Council of Europe adopts protocol on genetic testing for health purposes

European Journal of Human Genetics 17, 1374 (November 2009). doi:10.1038/ejhg.2009.84

Author: Laurence Lwoff

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

Yann Fichou — 2009-10-22

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

European Journal of Human Genetics 17, 1378 (November 2009). doi:10.1038/ejhg.2009.82

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

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

D Gareth R Evans — 2009-10-22

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

European Journal of Human Genetics 17, 1381 (November 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 — 2009-10-22

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

European Journal of Human Genetics 17, 1386 (November 2009). doi:10.1038/ejhg.2009.61

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

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

Antoinet CJ Gijsbers — 2009-10-22

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

European Journal of Human Genetics 17, 1394 (November 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

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

Marjan De Rademaeker — 2009-10-22

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

European Journal of Human Genetics 17, 1403 (November 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

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

Aurélie Plancke — 2009-10-22

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

European Journal of Human Genetics 17, 1411 (November 2009). doi:10.1038/ejhg.2009.76

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

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

Marija Mihelec — 2009-10-22

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

European Journal of Human Genetics 17, 1417 (November 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

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

Harinder K Gill — 2009-10-22

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

European Journal of Human Genetics 17, 1423 (November 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

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

Anneke T van Silfhout — 2009-10-22

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

European Journal of Human Genetics 17, 1432 (November 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

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

Michela Barbaro — 2009-10-22

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

European Journal of Human Genetics 17, 1439 (November 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 — 2009-10-22

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

European Journal of Human Genetics 17, 1448 (November 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

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 — 2009-10-22

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 17, 1454 (November 2009). doi:10.1038/ejhg.2009.80

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

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

Michaela Wawrzik — 2009-10-22

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

European Journal of Human Genetics 17, 1463 (November 2009). doi:10.1038/ejhg.2009.83

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

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

Virginie Caux-Moncoutier — 2009-10-22

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

European Journal of Human Genetics 17, 1471 (November 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

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

Adrian M Stütz — 2009-10-22

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 17, 1481 (November 2009). doi:10.1038/ejhg.2009.64

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

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

Paolo Garagnani — 2009-10-22

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

European Journal of Human Genetics 17, 1490 (November 2009). doi:10.1038/ejhg.2009.69

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

A heterozygote–homozygote test of Hardy–Weinberg equilibrium

Jin J Zhou — 2009-10-22

A heterozygote–homozygote test of Hardy–Weinberg equilibrium

European Journal of Human Genetics 17, 1495 (November 2009). doi:10.1038/ejhg.2009.57

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

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

Hai-Yan Zhu — 2009-10-22

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

European Journal of Human Genetics 17, 1501 (November 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

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

Emily Webb — 2009-10-22

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

European Journal of Human Genetics 17, 1507 (November 2009). doi:10.1038/ejhg.2009.92

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

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

Francesco Lescai — 2009-10-22

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

European Journal of Human Genetics 17, 1515 (November 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

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

Sergio Tofanelli — 2009-10-22

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

European Journal of Human Genetics 17, 1520 (November 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

The difficulty to classify complex dysmorphic syndromes on the ward

Albert Schinzel — 2009-10-22

The difficulty to classify complex dysmorphic syndromes on the ward

European Journal of Human Genetics 17, 1525 (November 2009). doi:10.1038/ejhg.2009.105

Author: Albert Schinzel

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

Svend Rand-Hendriksen — 2009-10-22

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

European Journal of Human Genetics 17, 1526 (November 2009). doi:10.1038/ejhg.2009.65

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