Human Genome Epidemiology Literature Finder
Records 1 - 7 (of 7 Records) |
Query Trace: SMCHD1[original query] |
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Recurrent major depression and right hippocampal volume: A bivariate linkage and association study. Human brain mapping 2015 Oct . Mathias Samuel R, Knowles Emma E M, Kent Jack W, McKay D Reese, Curran Joanne E, de Almeida Marcio A A, Dyer Thomas D, Göring Harald H H, Olvera Rene L, Duggirala Ravi, Fox Peter T, Almasy Laura, Blangero John, Glahn David |
[Prenatal diagnosis of a tetrasomy 18p case using BACs-on-Beads technology and single nucleotide polymorphism array]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2017 12 34 (6): 857-860. Jiang Huling, Ping Zepeng, Wang Luming, Jin Yuxia, Li Suping, Liu Xiaodan, Miao Zhengy |
Genotype and phenotype analysis of 43 Iranian facioscapulohumeral muscular dystrophy patients; Evidence for anticipation. Neuromuscular disorders : NMD 2018 2 28 (4): 303-314. Alavi Afagh, Esmaeili Sara, Nafissi Shahriar, Kahrizi Kimia, Najmabadi Hosse |
FSHD1 and FSHD2 form a disease continuum. Neurology 2019 4 92 (19): e2273-e2285. Sacconi Sabrina, Briand-Suleau Audrey, Gros Marilyn, Baudoin Christian, Lemmers Richard J L F, Rondeau Sophie, Lagha Nadira, Nigumann Pilvi, Cambieri Chiara, Puma Angela, Chapon Françoise, Stojkovic Tanya, Vial Christophe, Bouhour Françoise, Cao Michelangelo, Pegoraro Elena, Petiot Philippe, Behin Anthony, Marc Bras, Eymard Bruno, Echaniz-Laguna Andoni, Laforet Pascal, Salviati Leonardo, Jeanpierre Marc, Cristofari Gaël, van der Maarel Silvère |
The variability of SMCHD1 gene in FSHD patients: evidence of new mutations. Human molecular genetics 2019 10 28 (23): 3912-3920. Strafella Claudia, Caputo Valerio, Galota Rosaria Maria, Campoli Giulia, Bax Cristina, Colantoni Luca, Minozzi Giulietta, Orsini Chiara, Politano Luisa, Tasca Giorgio, Novelli Giuseppe, Ricci Enzo, Giardina Emiliano, Cascella Raffael |
Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency. Scientific reports 2020 7 10 (1): 10985. Kinjo Kenichi, Nagasaki Keisuke, Muroya Koji, Suzuki Erina, Ishiwata Keisuke, Nakabayashi Kazuhiko, Hattori Atsushi, Nagao Koji, Nozawa Ryu-Suke, Obuse Chikashi, Miyado Kenji, Ogata Tsutomu, Fukami Maki, Miyado Ma |
Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping. Neurology. Genetics 2023 11 9 (6): e200107. Naga M Guruju, Vanessa Jump, Richard Lemmers, Silvere Van Der Maarel, Ruby Liu, Babi R Nallamilli, Suresh Shenoy, Alka Chaubey, Pratik Koppikar, Rajiv Rose, Satish Khadilkar, Madhuri Heg |
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- Page last updated:Apr 22, 2024
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