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Comprehensive epithelial tubo-ovarian cancer risk prediction model incorporating genetic and epidemiological risk factors
Andrew Lee, Xin Yang, Jonathan Tyrer, Aleksandra Gentry-Maharaj, Andy Ryan, Nasim Mavaddat, Alex P Cunningham, Tim Carver, Stephanie Archer, Goska Leslie, Jatinder Kalsi, Faiza Gaba, Ranjit Manchanda, Simon Gayther, Susan J Ramus, Fiona M Walter, Marc Tischkowitz, Ian Jacobs, Usha Menon, Douglas F Easton, Paul Pharoah, Antonis C Antoniou

Journal of Medical Genetics Nov 2021, jmedgenet-2021-107904; DOI: 10.1136/jmedgenet-2021-107904
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene
Aida Bertoli-Avella, Ronja Hotakainen, Maryam Al Shehhi, Alice Urzi, Catarina Pareira, Anett Marais, Khoula Al Shidhani, Sumaya Aloraimi, Galina Morales-Torres, Steffen Fisher, Laura Demuth, Laila Abdel Moteleb Selim, Nihal Al Menabawy, Maryam Busehail, Mohammed AlShaikh, Naser Gilani, Dler Nooruldeen Chalabi, Nasser S Alharbi, Majid Alfadhel, Mohammed Abdelrahman, Hanka Venselaar, Nadeem Anjum, Anjum Saeed, Malak Ali Alghamdi, Hamad Aljaedi, Hisham Arabi, Vasiliki Karageorgou, Suliman Khan, Zahra Hajjari, Mandy Radefeldt, Ruslan Al-Ali, Kornelia Tripolszki, Amer Jamhawi, Omid Paknia, Claudia Cozma, Huma Cheema, Najim Ameziane, Saleh Al-Muhsen, Peter Bauer

Journal of Medical Genetics Dec 2021, jmedgenet-2021-108150; DOI: 10.1136/jmedgenet-2021-108150
Clinical characteristics and risk factors for survival in affected offspring of von Hippel-Lindau disease patients
Kenan Zhang, Jianhui Qiu, Wuping Yang, Kaifang Ma, Lei Li, Haibiao Xie, Yawei Xu, Yanqing Gong, Jingcheng Zhou, Lin Cai, Kan Gong

Journal of Medical Genetics Dec 2021, jmedgenet-2021-108216; DOI: 10.1136/jmedgenet-2021-108216
Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome
Yuki Taniguchi, Norifumi Takeda, Ryo Inuzuka, Yoshitaka Matsubayashi, So Kato, Toru Doi, Hiroki Yagi, Haruo Yamauchi, Masahiko Ando, Yasushi Oshima, Sakae Tanaka

Journal of Medical Genetics Dec 2021, jmedgenet-2021-108186; DOI: 10.1136/jmedgenet-2021-108186
Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency
Sarah Verheyen, Jasmin Blatterer, Michael R Speicher, Gandham SriLakshmi Bhavani, Geert-Jan Boons, Mai-Britt Ilse, Dominik Andrae, Jens Sproß, Frédéric Maxime Vaz, Susanne G Kircher, Laura Posch-Pertl, Daniela Baumgartner, Torben Lübke, Hitesh Shah, Ali Al Kaissi, Katta M Girisha, Barbara Plecko

Journal of Medical Genetics Dec 2021, jmedgenet-2021-108061; DOI: 10.1136/jmedgenet-2021-108061
Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts
Sahar Mansour, Katherine S Josephs, Pia Ostergaard, Kristiana Gordon, Malou Van Zanten, Julian Pearce, Steve Jeffery, Vaughan Keeley, Katie Riches, Alexander Kreuter, Ulrike Wieland, René Hägerling, Lakshmi Ratnam, Ege Sackey, Dionysios Grigoriadis, Bernard Ho, Frances Smith, Elisabeth Rauter, Peter Mortimer, Derek Macallan

Journal of Medical Genetics Dec 2021, jmedgenet-2021-107820; DOI: 10.1136/jmedgenet-2021-107820
Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method
Konstantinia Almpani, Denise K. Liberton, Priyam Jani, Cyrus Keyvanfar, Rashmi Mishra, Natasha Curry, Pamela Orzechowski, Pamela A. Frischmeyer-Guerrerio, Janice S. Lee

Journal of Medical Genetics Dec 2021, jmedgenet-2021-107695; DOI: 10.1136/jmedgenet-2021-107695
A germline 1;3 translocation disrupting the VHL gene: a novel genetic cause for von Hippel-Lindau
Christopher J Ricketts, Cathy D Vocke, Martin Lang, Xiongfong Chen, Yongmei Zhao, Bao Tran, Mayank Tandon, Laura S Schmidt, Mark W Ball, W Marston Linehan

Journal of Medical Genetics Jan 2022, 59 (1) 18-22; DOI: 10.1136/jmedgenet-2020-107308
Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition
Angela Peron, Maria Paola Canevini, Filippo Ghelma, Rosangela Arancio, Miriam Nella Savini, Aglaia Vignoli

Journal of Medical Genetics Jan 2022, 59 (1) 39-45; DOI: 10.1136/jmedgenet-2020-107333
Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region
Xin (Cynthia) Ye, Nicole M Roslin, Andrew D Paterson, Christopher J Lyons, Victor Pegado, Phillip Richmond, Casper Shyr, Oriol Fornes, XiaoHua Han, Michelle Higginson, Colin J Ross, Deborah Giaschi, Cheryl Gregory-Evans, Millan S Patel, Wyeth W Wasserman

Journal of Medical Genetics Jan 2022, 59 (1) 46-55; DOI: 10.1136/jmedgenet-2020-107226

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