Journal of Medical Genetics: 50 (1)

Reviews

Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.−14C>T mutation in all patients
(13 December, 2012)
Frank Rauch, Pierre Moffatt, Moira Cheung, Peter Roughley, Liljana Lalic, Allan M Lund, Norman Ramirez, Somayyeh Fahiminiya, Jacek Majewski, Francis H Glorieux

Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis
(17 November, 2012)
Antonio Alcina, Maria Fedetz, Óscar Fernández, Albert Saiz, Guillermo Izquierdo, Miguel Lucas, Laura Leyva, Juan-Antonio García-León, María del Mar Abad-Grau, Iraide Alloza, Alfredo Antigüedad, María J Garcia-Barcina, Koen Vandenbroeck, Jezabel Varadé, Belén de la Hera, Rafael Arroyo, Manuel Comabella, Xavier Montalban, Natalia Petit-Marty, Arcadi Navarro, David Otaegui, Javier Olascoaga, Yolanda Blanco, Elena Urcelay, Fuencisla Matesanz
IL12B SNPs and copy number variation in IL23R gene associated with susceptibility to leprosy
(13 December, 2012)
Shafat Ali, Amit Kumar Srivastava, Rupali Chopra, Shweta Aggarwal, Vijay Kumar Garg, Sambit Nath Bhattacharya, Rameshwar Nath Koul Bamezai
An Italian association study and meta-analysis with previous GWAS confirm WNT4, CDKN2BAS and FN1 as the first identified susceptibility loci for endometriosis
(9 November, 2012)
Luca Pagliardini, Davide Gentilini, Paola Vigano’, Paola Panina-Bordignon, Mauro Busacca, Massimo Candiani, Anna Maria Di Blasio

Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A
(17 November, 2012)
Umm-e- Kalsoom, Eva Klopocki, Naveed Wasif, Muhammad Tariq, Saadullah Khan, Jochen Hecht, Peter Krawitz, Stefan Mundlos, Wasim Ahmad
Mutation in MPDZ causes severe congenital hydrocephalus
(13 December, 2012)
Mohammed S Al-Dosari, Mohammed Al-Owain, Maha Tulbah, Wesam Kurdi, Nouran Adly, Amal Al-Hemidan, Tariq A Masoodi, Buthainah Albash, Fowzan S Alkuraya

Pancreatic cancer risk in Peutz-Jeghers syndrome patients: a large cohort study and implications for surveillance (13 December, 2012)
Susanne E Korsse, Femme Harinck, Margot G F van Lier, Katharina Biermann, G Johan A Offerhaus, Nanda Krak, Caspar W N Looman, Wendy van Veelen, Ernst J Kuipers, Anja Wagner, Evelien Dekker, Elisabeth M H Mathus-Vliegen, Paul Fockens, Monique E van Leerdam, Marco J Bruno