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

Axenfeld–Rieger syndrome and spectrum of PITX2 and FOXC1 mutations

Zeynep Tümer — 2009-11-19

Axenfeld–Rieger syndrome and spectrum of PITX2 and FOXC1 mutations

European Journal of Human Genetics 17, 1527 (December 2009). doi:10.1038/ejhg.2009.93

Authors: Zeynep Tümer & Daniella Bach-Holm

On the origin of Y-chromosome haplogroup N1b

Boris Malyarchuk — 2009-11-19

On the origin of Y-chromosome haplogroup N1b

European Journal of Human Genetics 17, 1540 (December 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 — 2009-11-19

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 17, 1541 (December 2009). doi:10.1038/ejhg.2009.101

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

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

Joanna Stjernschantz Forsberg — 2009-11-19

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

European Journal of Human Genetics 17, 1544 (December 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 — 2009-11-19

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

European Journal of Human Genetics 17, 1550 (December 2009). doi:10.1038/ejhg.2009.88

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

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

Fleur S Van Dijk — 2009-11-19

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

European Journal of Human Genetics 17, 1560 (December 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

HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing

Wenke Seifert — 2009-11-19

HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing

European Journal of Human Genetics 17, 1570 (December 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

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

Francois Dominique Jacob — 2009-11-19

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

European Journal of Human Genetics 17, 1577 (December 2009). doi:10.1038/ejhg.2009.95

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

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

Hisato Kobayashi — 2009-11-19

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

European Journal of Human Genetics 17, 1582 (December 2009). doi:10.1038/ejhg.2009.68

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

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

Hartmut Engels — 2009-11-19

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

European Journal of Human Genetics 17, 1592 (December 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

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

Sadia Nawaz — 2009-11-19

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

European Journal of Human Genetics 17, 1600 (December 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

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

Janina Hantke — 2009-11-19

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

European Journal of Human Genetics 17, 1606 (December 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

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

Rinse Klooster — 2009-11-19

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

European Journal of Human Genetics 17, 1615 (December 2009). doi:10.1038/ejhg.2009.62

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

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

Jet Bliek — 2009-11-19

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

European Journal of Human Genetics 17, 1625 (December 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

Comparing population structure as inferred from genealogical versus genetic information

Vincenza Colonna — 2009-11-19

Comparing population structure as inferred from genealogical versus genetic information

European Journal of Human Genetics 17, 1635 (December 2009). doi:10.1038/ejhg.2009.97

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

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

Remko Hersmus — 2009-11-19

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

European Journal of Human Genetics 17, 1642 (December 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

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

Georg B Ehret — 2009-11-19

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

European Journal of Human Genetics 17, 1650 (December 2009). doi:10.1038/ejhg.2009.94

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

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

Lei Gao — 2009-11-19

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

European Journal of Human Genetics 17, 1658 (December 2009). doi:10.1038/ejhg.2009.102

Authors: Lei Gao, Alexandra Nieters & Hermann Brenner

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

Wensen Chen — 2009-11-19

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 17, 1668 (December 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

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

David W Fardo — 2009-11-19

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

European Journal of Human Genetics 17, 1676 (December 2009). doi:10.1038/ejhg.2009.85

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

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

Magali Taulan — 2009-11-19

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

European Journal of Human Genetics 17, 1683 (December 2009). doi:10.1038/ejhg.2009.73

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

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

Uljana A Boyarskikh — 2009-11-19

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

European Journal of Human Genetics 17, 1688 (December 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

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

Fleur S Van Dijk — 2009-11-19

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

European Journal of Human Genetics 17, 1692 (December 2009). doi:10.1038/ejhg.2009.137

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

Elisabetta Gazzerro — 2009-11-19

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

European Journal of Human Genetics 17, 1692 (December 2009). doi:10.1038/ejhg.2009.147

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