Epidemiology

Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus
Ranad Shaheen, Amal Al Hashem, Mohammed H Alghamdi, Mohammed Zain Seidahmad, Salma M Wakil, Khalid Dagriri, Bernard Keavney, Judith Goodship, Saad Alyousif, Fahad M Al-Habshan, Khalid Alhussein, Agaadir Almoisheer, Niema Ibrahim, Fowzan S Alkuraya

Journal of Medical Genetics May 2015, 52 (5) 322-329; DOI: 10.1136/jmedgenet-2015-102992
A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life
Chiara Calore, Marzia De Bortoli, Chiara Romualdi, Alessandra Lorenzon, Annalisa Angelini, Cristina Basso, Gaetano Thiene, Sabino Iliceto, Alessandra Rampazzo, Paola Melacini

Journal of Medical Genetics May 2015, 52 (5) 338-347; DOI: 10.1136/jmedgenet-2014-102923
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease
Dominique P Germain, Joel Charrow, Robert J Desnick, Nathalie Guffon, Judy Kempf, Robin H Lachmann, Roberta Lemay, Gabor E Linthorst, Seymour Packman, C Ronald Scott, Stephen Waldek, David G Warnock, Neal J Weinreb, William R Wilcox

Journal of Medical Genetics May 2015, 52 (5) 353-358; DOI: 10.1136/jmedgenet-2014-102797
Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome
Paul Kruszka, Dong Li, Margaret H Harr, Nathan R Wilson, Daniel Swarr, Elizabeth M McCormick, Rosetta M Chiavacci, Mindy Li, Ariel F Martinez, Rachel A Hart, Donna M McDonald-McGinn, Matthew A Deardorff, Marni J Falk, Judith E Allanson, Cindy Hudson, John P Johnson, Irfan Saadi, Hakon Hakonarson, Maximilian Muenke, Elaine H Zackai

Journal of Medical Genetics Feb 2015, 52 (2) 104-110; DOI: 10.1136/jmedgenet-2014-102677
Mendelian randomisation applied to drug development in cardiovascular disease: a review
Lauren E Mokry, Omar Ahmad, Vincenzo Forgetta, George Thanassoulis, J Brent Richards

Journal of Medical Genetics Feb 2015, 52 (2) 71-79; DOI: 10.1136/jmedgenet-2014-102438
Mitochondrial mutations associated with aminoglycoside ototoxicity and hearing loss susceptibility identified by meta-analysis
Wu Jing, Hao Zongjie, Fu Denggang, Hei Na, Zhang Bin, Zhou Aifen, Hu Xijiang, Yao Cong, Dong Yunping, Huijun Z Ring, Brian Z Ring

Journal of Medical Genetics Feb 2015, 52 (2) 95-103; DOI: 10.1136/jmedgenet-2014-102753
Intake levels of dietary polyunsaturated fatty acids modify the association between the genetic variation in PCSK5 and HDL cholesterol
Han Byul Jang, Joo-Yeon Hwang, Ji Eun Park, Ji Hee Oh, YounJhin Ahn, Jae-Heon Kang, Kyung-Hee Park, Bok-Ghee Han, Bong Jo Kim, Sang Ick Park, Hye-Ja Lee

Journal of Medical Genetics Dec 2014, 51 (12) 782-788; DOI: 10.1136/jmedgenet-2014-102670
Tumour MLH1 promoter region methylation testing is an effective prescreen for Lynch Syndrome (HNPCC)
K Newton, N M Jorgensen, A J Wallace, D D Buchanan, F Lalloo, R F T McMahon, J Hill, D G Evans

Journal of Medical Genetics Dec 2014, 51 (12) 789-796; DOI: 10.1136/jmedgenet-2014-102552
De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder
Christian Babbs, Deborah Lloyd, Alistair T Pagnamenta, Stephen R F Twigg, Joanne Green, Simon J McGowan, Ghazala Mirza, Rebecca Naples, Vikram P Sharma, Emanuela V Volpi, Veronica J Buckle, Steven A Wall, Samantha J L Knight, International Molecular Genetic Study of Autism Consortium (IMGSAC), Jeremy R Parr, Andrew O M Wilkie

Journal of Medical Genetics Nov 2014, 51 (11) 737-747; DOI: 10.1136/jmedgenet-2014-102582
Targeted gene panel sequencing in children with very early onset inflammatory bowel disease—evaluation and prospective analysis
Jochen Kammermeier, Suzanne Drury, Chela T James, Robert Dziubak, Louise Ocaka, Mamoun Elawad, Philip Beales, Nicholas Lench, Holm H Uhlig, Chiara Bacchelli, Neil Shah

Journal of Medical Genetics Nov 2014, 51 (11) 748-755; DOI: 10.1136/jmedgenet-2014-102624

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