genetics

TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents
Julien H Park, Jiraporn Ousingsawat, Inês Cabrita, Ruth E Bettels, Jörg Große-Onnebrink, Christian Schmalstieg, Saskia Biskup, Janine Reunert, Stephan Rust, Rainer Schreiber, Karl Kunzelmann, Thorsten Marquardt

Journal of Medical Genetics May 2020, jmedgenet-2020-106978; DOI: 10.1136/jmedgenet-2020-106978
Prevalence of BRCA1/BRCA2 pathogenic variation in Chinese Han population
Hui Dong, Khyati Chandratre, Yue Qin, Jing Zhang, Xiaoqing Tian, Ce Rong, Ning Wang, Maoni Guo, Guoping Zhao, San Ming Wang

Journal of Medical Genetics May 2020, jmedgenet-2020-106970; DOI: 10.1136/jmedgenet-2020-106970
Integrated case-control and somatic-germline interaction analyses of soft-tissue sarcoma
Fulan Hu, Yao Yu, Jiun-Sheng Chen, Hao Hu, Paul Scheet, Chad D. Huff

Journal of Medical Genetics May 2020, jmedgenet-2019-106814; DOI: 10.1136/jmedgenet-2019-106814
Paternal 132 bp deletion affecting KCNQ1OT1 in 11p15.5 is associated with growth retardation but does not affect imprinting
Thomas Eggermann, Florian Kraft, Eva Lausberg, Katrin Ergezinger, Erdmute Kunstmann

Journal of Medical Genetics May 2020, jmedgenet-2020-106868; DOI: 10.1136/jmedgenet-2020-106868
Six-year prospective follow-up study in 151 carriers of the mitochondrial DNA 3243 A>G variant
Paul de Laat, Richard R Rodenburg, Nel Roeleveld, Saskia Koene, Jan A Smeitink, Mirian CH Janssen

Journal of Medical Genetics May 2020, jmedgenet-2019-106800; DOI: 10.1136/jmedgenet-2019-106800
Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability
Arisha Rasheed, Evren Gumus, Maha Zaki, Katherine Johnson, Humera Manzoor, Geneva LaForce, Danica Ross, Jennifer McEvoy-Venneri, Valentina Stanley, Sangmoon Lee, Abbir Virani, Tawfeg Ben-Omran, Joseph G Gleeson, Sadaf Naz, Ashleigh Schaffer

Journal of Medical Genetics May 2020, jmedgenet-2020-106849; DOI: 10.1136/jmedgenet-2020-106849
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features
Cristiane Benincá, Vanessa Zanette, Michele Brischigliaro, Mark Johnson, Aurelio Reyes, Daniel Almeida do Valle, Alan J. Robinson, Andrea Degiorgi, Anna Yeates, Bruno Augusto Telles, Julien Prudent, Enrico Baruffini, Mara Lucia S. F. Santos, Ricardo Lehtonen R. de Souza, Erika Fernandez-Vizarra, Alexander J. Whitworth, Massimo Zeviani

Journal of Medical Genetics May 2020, jmedgenet-2020-106861; DOI: 10.1136/jmedgenet-2020-106861
Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome
Samuel W Baker, Kelly A Duffy, Jennifer Richards-Yutz, Matthew A Deardorff, Jennifer M Kalish, Arupa Ganguly

Journal of Medical Genetics May 2020, jmedgenet-2019-106498; DOI: 10.1136/jmedgenet-2019-106498
Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis
Emily P McCann, Lyndal Henden, Jennifer A Fifita, Katharine Y Zhang, Natalie Grima, Denis C Bauer, Sandrine Chan Moi Fat, Natalie A Twine, Roger Pamphlett, Matthew C Kiernan, Dominic B Rowe, Kelly L Williams, Ian P Blair

Journal of Medical Genetics May 2020, jmedgenet-2020-106866; DOI: 10.1136/jmedgenet-2020-106866
Prevalence and associated phenotypes of DUSP6, IL17RD and SPRY4 variants in a large Chinese cohort with isolated hypogonadotropic hypogonadism
Meichao Men, Xinying Wang, Jiayu Wu, Wang Zeng, Fang Jiang, Ruizhi Zheng, Jia-Da Li

Journal of Medical Genetics May 2020, jmedgenet-2019-106786; DOI: 10.1136/jmedgenet-2019-106786

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