两个Coffin-Siris综合征家系的 ARID1B基因变异分析

[1] ARID1B基因新发错义变异致精神发育迟滞一例 [J]. 中华医学遗传学杂志, 2020, 37 (10) : 1154 - 1157

[2] Genome-Wide Analysis of the Nucleosome Landscape in Individuals with Coffin-Siris Syndrome [J]. CYTOGENETIC AND GENOME RESEARCH, 2019, 159 (01) : 1 - 11

[3] Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome [J]. JOURNAL OF MEDICAL GENETICS, 2016, 53 (03) : 152 - 162

[4] Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability[J] . Francesca Mari,Annabella Marozza,Maria Antonietta Mencarelli,Caterina Lo Rizzo,Chiara Fallerini,Laura Dosa,Chiara Di Marco,Giulia Carignani,Margherita Baldassarri,Paola Cianci,Rossella Vivarelli,Marina Vascotto,Salvatore Grosso,Pietro Rubegni,Carla Caffarelli,Elena Pretegiani,Michele Fimiani,Livia Garavelli,Francesca Cristofoli,Joris R. Vermeesch,Ranuccio Nuti,Maria Teresa D

[5] Molecular pathways: SWI/SNF (BAF) complexes are frequently mutated in cancer--mechanisms and potential therapeutic insights.[J] . Wang Xiaofeng,Haswell Jeffrey R,Roberts Charles W M. Clinical cancer research : an official journal of the American Association for Cancer Research . 2014 (1)

[6] A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling [J]. HUMAN MOLECULAR GENETICS, 2013, 22 (25) : 5121 - 5135

[7] Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome [J]. NATURE GENETICS, 2012, 44 (04) : 379 - 380

[8] Two related ARID family proteins are alternative subunits of human SWI/SNF complexes.[J] . Wang Xiaomei,Nagl Norman G,Wilsker Deborah,Van Scoy Michael,Pacchione Stephen,Yaciuk Peter,Dallas Peter B,Moran Elizabeth. The Biochemical journal . 2004 (Pt 2)

[1] ARID1B基因新发错义变异致精神发育迟滞一例 [J]. 中华医学遗传学杂志, 2020, 37 (10) : 1154 - 1157

[2] Genome-Wide Analysis of the Nucleosome Landscape in Individuals with Coffin-Siris Syndrome [J]. CYTOGENETIC AND GENOME RESEARCH, 2019, 159 (01) : 1 - 11

[3] Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome [J]. JOURNAL OF MEDICAL GENETICS, 2016, 53 (03) : 152 - 162

[4] Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability[J] . Francesca Mari,Annabella Marozza,Maria Antonietta Mencarelli,Caterina Lo Rizzo,Chiara Fallerini,Laura Dosa,Chiara Di Marco,Giulia Carignani,Margherita Baldassarri,Paola Cianci,Rossella Vivarelli,Marina Vascotto,Salvatore Grosso,Pietro Rubegni,Carla Caffarelli,Elena Pretegiani,Michele Fimiani,Livia Garavelli,Francesca Cristofoli,Joris R. Vermeesch,Ranuccio Nuti,Maria Teresa D

[5] Molecular pathways: SWI/SNF (BAF) complexes are frequently mutated in cancer--mechanisms and potential therapeutic insights.[J] . Wang Xiaofeng,Haswell Jeffrey R,Roberts Charles W M. Clinical cancer research : an official journal of the American Association for Cancer Research . 2014 (1)

[6] A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling [J]. HUMAN MOLECULAR GENETICS, 2013, 22 (25) : 5121 - 5135

[7] Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome [J]. NATURE GENETICS, 2012, 44 (04) : 379 - 380

[8] Two related ARID family proteins are alternative subunits of human SWI/SNF complexes.[J] . Wang Xiaomei,Nagl Norman G,Wilsker Deborah,Van Scoy Michael,Pacchione Stephen,Yaciuk Peter,Dallas Peter B,Moran Elizabeth. The Biochemical journal . 2004 (Pt 2)