19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadiasGANA, Simone; VEGGIOTTI, Pierangelo; BI, Weimin et al.European journal of human genetics. 2012, Vol 20, Num 8, pp 852-856, issn 1018-4813, 5 p.Article

A two-stage association study identifies methyl-CpG- binding domain protein 2 gene polymorphisms as candidates for breast cancer susceptibilitySAPKOTA, Yadav; ROBSON, Paula; LAI, Raymond et al.European journal of human genetics. 2012, Vol 20, Num 6, pp 682-689, issn 1018-4813, 8 p.Article

Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4BONDURAND, Nadége; FOUQUET, Virginie; BARAL, Viviane et al.European journal of human genetics. 2012, Vol 20, Num 9, pp 990-994, issn 1018-4813, 5 p.Article

AniridiaHINGORANI, Melanie; HANSON, Isabel; HEYNINGEN, Veronica Van et al.European journal of human genetics. 2012, Vol 20, Num 10, pp 1011-1017, issn 1018-4813, 7 p.Article

Association of TMEM18 variants with BMI and waist circumference in children and correlation of mRNA expression in the PFC with body weight in ratsRASK-ANDERSEN, Mathias; JACOBSSON, Josefin A; SCHIÖTH, Helgi B et al.European journal of human genetics. 2012, Vol 20, Num 2, pp 192-197, issn 1018-4813, 6 p.Article

Attitudes to reproductive genetic testing in women who had a positive BRCA test before having children: a qualitative analysisORMONDROYD, Elizabeth; DONNELLY, Louise; MOYNIHAN, Clare et al.European journal of human genetics. 2012, Vol 20, Num 1, pp 4-10, issn 1018-4813, 7 p.Article

Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1POOLE, Rebecca L; LEITH, Donald J; DOCHERTY, Louise E et al.European journal of human genetics. 2012, Vol 20, Num 2, pp 240-243, issn 1018-4813, 4 p.Article

C1q enhances cone photoreceptor survival in a mouse model of autosomal recessive retinitis pigmentosaHUMPHRIES, Marian M; KENNA, Paul F; CAMPBELL, Matthew et al.European journal of human genetics. 2012, Vol 20, Num 1, pp 64-68, issn 1018-4813, 5 p.Article

Coronary artery disease in Alström syndromeJATTI, Kumar; PAISEY, Richard; MORE, Ranjit et al.European journal of human genetics. 2012, Vol 20, Num 1, pp 117-118, issn 1018-4813, 2 p.Article

DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutationsLANA, Erica; MEGARBANE, Andre; TOURRIERE, Helene et al.European journal of human genetics. 2012, Vol 20, Num 10, pp 1044-1050, issn 1018-4813, 7 p.Article

Dissecting the genetic make-up of North-East Sardinia using a large set of haploid and autosomal markersPARDO, Luba M; PIRAS, Giovanna; ASPRONI, Rosanna et al.European journal of human genetics. 2012, Vol 20, Num 9, pp 956-964, issn 1018-4813, 9 p.Article

Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung diseaseJANNOT, Anne-Sophie; AMIEL, Jeanne; HOFSTRA, Robert M. W et al.European journal of human genetics. 2012, Vol 20, Num 9, pp 917-920, issn 1018-4813, 4 p.Article

Methylome-wide comparison of human genomic DNA extracted from whole blood and from EBV-transformed lymphocyte cell linesABERG, Karolina; KHACHANE, Amit N; RUDOLF, Gabor et al.European journal of human genetics. 2012, Vol 20, Num 9, pp 953-955, issn 1018-4813, 3 p.Article

Permutation-based approaches do not adequately allow for linkage disequilibrium in gene-wide multi-locus association analysisMOSKVINA, Valentina; SCHMIDT, Karl M; VEDERNIKOV, Alexey et al.European journal of human genetics. 2012, Vol 20, Num 8, pp 890-896, issn 1018-4813, 7 p.Article

Phenotype-specific adverse effects of XPD mutations on human prenatal development implicate impairment of TFIIH-mediated functions in placentaMOSLEHI, Roxana; KUMAR, Anil; MILLS, James L et al.European journal of human genetics. 2012, Vol 20, Num 6, pp 626-631, issn 1018-4813, 6 p.Article

Polymorphisms in the P2X7 receptor gene are associated with low lumbar spine bone mineral density and accelerated bone loss in post-menopausal womenGARTLAND, Alison; SKARRATT, Kristen K; HOCKING, Lynne J et al.European journal of human genetics. 2012, Vol 20, Num 5, pp 559-564, issn 1018-4813, 6 p.Article

Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotypeKAGAMI, Masayo; KATO, Fumiko; MATSUBARA, Keiko et al.European journal of human genetics. 2012, Vol 20, Num 9, pp 928-932, issn 1018-4813, 5 p.Article

Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndromeGRAY, Mary J; AE KIM, Chong; ROMEO BERTOLA, Debora et al.European journal of human genetics. 2012, Vol 20, Num 1, pp 122-124, issn 1018-4813, 3 p.Article

Single-nucleotide polymorphisms in the P2X7 receptor gene are associated with post-menopausal bone loss and vertebral fracturesJØRGENSEN, Niklas R; HUSTED, Lise B; CLIFTON-BLIGH, Rory et al.European journal of human genetics. 2012, Vol 20, Num 6, pp 675-681, issn 1018-4813, 7 p.Article

TBX5 intragenic duplication: a family with an atypical Holt―Oram syndrome phenotypePATEL, Chirag; SILCOCK, Lee; MCMULLAN, Dominic et al.European journal of human genetics. 2012, Vol 20, Num 8, pp 863-869, issn 1018-4813, 7 p.Article

Temporal differentiation across a West-European Y-chromosomal cline: genealogy as a tool in human population geneticsLARMUSEAU, Maarten Hd; OTTONI, Claudio; RAEYMAEKERS, Joost Am et al.European journal of human genetics. 2012, Vol 20, Num 4, pp 434-440, issn 1018-4813, 7 p.Article

The role of renin―angiotensin―aldosterone system polymorphisms in phenotypic expression of MYBPC3-related hypertrophic cardiomyopathyKOLDER, Iris Crm; MICHELS, Michelle; DOOIJES, Dennis et al.European journal of human genetics. 2012, Vol 20, Num 10, pp 1071-1077, issn 1018-4813, 7 p.Article

Unique and atypical deletions in Prader―Willi syndrome reveal distinct phenotypesKIM, Soo-Jeong; MILLER, Jennifer L; KUIPERS, Paul J et al.European journal of human genetics. 2012, Vol 20, Num 3, pp 283-290, issn 1018-4813, 8 p.Article

Use of the gamma method for self-contained gene-set analysis of SNP dataBIERNACKA, Joanna M; JENKINS, Gregory D; LIEWEI WANG et al.European journal of human genetics. 2012, Vol 20, Num 5, pp 565-571, issn 1018-4813, 7 p.Article

14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elementsALLOU, Lila; LAMBERT, Laetitia; HARBORD, Michael et al.European journal of human genetics. 2012, Vol 20, Num 12, pp 1216-1223, issn 1018-4813, 8 p.Article