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Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis
Kristiana Gordon, Ruth Varney, Vaughan Keeley, Katie Riches, Steve Jeffery, Malou Van Zanten, Peter Mortimer, Pia Ostergaard, Sahar Mansour

Journal of Medical Genetics May 2020, jmedgenet-2019-106084; DOI: 10.1136/jmedgenet-2019-106084
A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss
Suzanne E de Bruijn, Jeroen J Smits, Chang Liu, Cornelis P Lanting, Andy J Beynon, Joëlle Blankevoort, Jaap Oostrik, Wouter Koole, Erik de Vrieze, Cor W R J Cremers, Frans P M Cremers, Susanne Roosing, Helger G Yntema, Henricus P M Kunst, Bo Zhao, Ronald J E Pennings, Hannie Kremer

Journal of Medical Genetics May 2020, jmedgenet-2020-106863; DOI: 10.1136/jmedgenet-2020-106863
DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes
Jonathan Marquez, Nina Mann, Kathya Arana, Engin Deniz, Weizhen Ji, Monica Konstantino, Emily K Mis, Charu Deshpande, Lauren Jeffries, Julie McGlynn, Hannah Hugo, Eugen Widmeier, Martin Konrad, Velibor Tasic, Raffaella Morotti, Julia Baptista, Sian Ellard, Saquib Ali Lakhani, Friedhelm Hildebrandt, Mustafa K Khokha

Journal of Medical Genetics Jul 2020, jmedgenet-2019-106805; DOI: 10.1136/jmedgenet-2019-106805
Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes
Martijn Baas, Elise Bette Burger, Ans MW van den Ouweland, Steven ER Hovius, Annelies de Klein, Christianne A van Nieuwenhoven, Robert Jan H Galjaard

Journal of Medical Genetics Jun 2020, jmedgenet-2020-106948; DOI: 10.1136/jmedgenet-2020-106948
Heritable genetic variants in key cancer genes link cancer risk with anthropometric traits
Matteo Di Giovannantonio, Benjamin HL Harris, Ping Zhang, Isaac Kitchen-Smith, Lingyun Xiong, Natasha Sahgal, Giovanni Stracquadanio, Marsha Wallace, Sarah Blagden, Simon Lord, David Harris, Adrian H.L. Harris, Francesca M. Buffa, Gareth L. Bond

Journal of Medical Genetics Jun 2020, jmedgenet-2019-106799; DOI: 10.1136/jmedgenet-2019-106799
Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome
Kazuki Yamazawa, Takanobu Inoue, Yoshihiro Sakemi, Toshinori Nakashima, Hironori Yamashita, Kaduki Khono, Hideki Fujita, Keisuke Enomoto, Kazuhiko Nakabayashi, Kenichiro Hata, Moeko Nakashima, Tatsuo Matsunaga, Akie Nakamura, Keiko Matsubara, Tsutomu Ogata, Masayo Kagami

Journal of Medical Genetics Jun 2020, jmedgenet-2020-107019; DOI: 10.1136/jmedgenet-2020-107019
Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF
Mingrong Lv, Wangjie Liu, Wangfei Chi, Xiaoqing Ni, Jiajia Wang, Huiru Cheng, Wei-Yu Li, Shenmin Yang, Huan Wu, Junqiang Zhang, Yang Gao, Chunyu Liu, Caihua Li, Chenyu Yang, Qing Tan, Dongdong Tang, Jingjing Zhang, Bing Song, Yu-Jie Chen, Qiang Li, Yading Zhong, Zhihua Zhang, Hexige Saiyin, Li Jin, Yuping Xu, Ping Zhou, Zhaolian Wei, Chuanmao Zhang, Xiaojin He, Feng Zhang, Yunxia Cao

Journal of Medical Genetics Jul 2020, 57 (7) 445-453; DOI: 10.1136/jmedgenet-2019-106479
Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis
Alicia B Byrne, Shuji Mizumoto, Peer Arts, Patrick Yap, Jinghua Feng, Andreas W Schreiber, Milena Babic, Sarah L King-Smith, Christopher P Barnett, Lynette Moore, Kazuyuki Sugahara, Hatice Mutlu-Albayrak, Gen Nishimura, Jan E Liebelt, Shuhei Yamada, Ravi Savarirayan, Hamish S Scott

Journal of Medical Genetics Jul 2020, 57 (7) 454-460; DOI: 10.1136/jmedgenet-2019-106700
Impacts of genomics on the health and social costs of intellectual disability
Brett Doble, Deborah Schofield, Carey-Anne Evans, Tudor Groza, John S Mattick, Mike Field, Tony Roscioli

Journal of Medical Genetics Jul 2020, 57 (7) 479-486; DOI: 10.1136/jmedgenet-2019-106445
Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients
Yanbin Fan, Dandan Tan, Danyu Song, Xu Zhang, Xingzhi Chang, Zhaoxia Wang, Cheng Zhang, Sophelia Hoi-Shan Chan, Qixi Wu, Liwen Wu, Shuang Wang, Hui Yan, Lin Ge, Haipo Yang, Bing Mao, Carsten Bönnemann, Jingying Liu, Suxia Wang, Yun Yuan, Xiru Wu, Hong Zhang, Hui Xiong

Journal of Medical Genetics Jun 2020, jmedgenet-2019-106671; DOI: 10.1136/jmedgenet-2019-106671

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