ARID1B基因变异致Coffin-Siris综合征1型伴低血糖合并癫■1例病例报告

[1] ARID1B基因导致Coffin-Siris综合征伴癫痫一例并文献复习 [J]. 癫痫杂志, 2022, 8 (01) : 90 - 93

[2] Coffin-Siris综合征伴糖尿病一例报道 [J]. 中国糖尿病杂志, 2021, 29 (04) : 306 - 309

[3] Epilepsy in Coffin-Siris syndrome: A report from the international CSS registry and review of the literature.[J] Ciliberto Michael;Skjei Karen;Vasko Ashley;Schrier Vergano Samantha American journal of medical genetics. Part A 2022,

[4] Epilepsy features in ARID1B-related Coffin-Siris syndrome.[J] Proietti Jacopo;Amadori Elisabetta;Striano Pasquale;Ricci Emilia;Cordelli Duccio Maria;Bana Cristina;Dilena Robertino;Gardella Elena;Klint Nielsen Jens Erik;Pisani Francesco;Lo Barco Tommaso;Fiorini Elena;Fontana Elena;Darra Francesca;Dalla Bernardina Bernardo;Cantalupo Gaetano Epileptic disorders : international epilepsy journal with videotape 2021,

[5] Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome[J] Vasko Ashley;Drivas Theodore G.;Schrier Vergano Samantha A. Genes 2021,

[6] Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.[J] Sekiguchi Futoshi;Tsurusaki Yoshinori;Okamoto Nobuhiko;Teik Keng Wee;Mizuno Seiji;Suzumura Hiroshi;Isidor Bertrand;Ong Winnie Peitee;Haniffa Muzhirah;White Susan M;Matsuo Mari;Saito Kayoko;Phadke Shubha;Kosho Tomoki;Yap Patrick;Goyal Manisha;Clarke Lorne A;Sachdev Rani;McGillivray George;Leventer Richard J;Patel Chirag;Yamagata Takanori;Osaka Hitoshi;Hisaeda Yoshiya;Ohashi Hirofumi;Shimizu Kenji;Nagasaki Keisuke;Hamada

[7] The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.[J] van der Sluijs Pleuntje J;Jansen Sandra;Vergano Samantha A;Adachi-Fukuda Miho;Alanay Yasemin;AlKindy Adila;Baban Anwar;Bayat Allan;Beck-Wödl Stefanie;Berry Katherine;Bijlsma Emilia K;Bok Levinus A;Brouwer Alwin F J;van der Burgt Ineke;Campeau Philippe M;Canham Natalie;Chrzanowska Krystyna;Chu Yoyo W Y;Chung Brain H Y;Dahan Karin;De Rademaeker Marjan;Destree Anne;Dudding-Byth Tracy;Earl Rac

[8] Effects of growth hormone in the central nervous system.[J] Wasinski Frederick;Frazão Renata;Donato Jose Archives of endocrinology and metabolism 2019,

[9] Essential Roles for ARID1B in Dendritic Arborization and Spine Morphology of Developing Pyramidal Neurons.[J] Ka Minhan;Chopra Divyan A;Dravid Shashank M;Kim Woo-Yang The Journal of neuroscience : the official journal of the Society for Neuroscience 2016,

[10] The ARID1B phenotype: what we have learned so far.[J] Santen Gijs W E;Clayton-Smith Jill American journal of medical genetics. Part C, Seminars in medical genetics 2014,

[1] ARID1B基因导致Coffin-Siris综合征伴癫痫一例并文献复习 [J]. 癫痫杂志, 2022, 8 (01) : 90 - 93

[2] Coffin-Siris综合征伴糖尿病一例报道 [J]. 中国糖尿病杂志, 2021, 29 (04) : 306 - 309

[3] Epilepsy in Coffin-Siris syndrome: A report from the international CSS registry and review of the literature.[J] Ciliberto Michael;Skjei Karen;Vasko Ashley;Schrier Vergano Samantha American journal of medical genetics. Part A 2022,

[4] Epilepsy features in ARID1B-related Coffin-Siris syndrome.[J] Proietti Jacopo;Amadori Elisabetta;Striano Pasquale;Ricci Emilia;Cordelli Duccio Maria;Bana Cristina;Dilena Robertino;Gardella Elena;Klint Nielsen Jens Erik;Pisani Francesco;Lo Barco Tommaso;Fiorini Elena;Fontana Elena;Darra Francesca;Dalla Bernardina Bernardo;Cantalupo Gaetano Epileptic disorders : international epilepsy journal with videotape 2021,

[5] Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome[J] Vasko Ashley;Drivas Theodore G.;Schrier Vergano Samantha A. Genes 2021,

[6] Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.[J] Sekiguchi Futoshi;Tsurusaki Yoshinori;Okamoto Nobuhiko;Teik Keng Wee;Mizuno Seiji;Suzumura Hiroshi;Isidor Bertrand;Ong Winnie Peitee;Haniffa Muzhirah;White Susan M;Matsuo Mari;Saito Kayoko;Phadke Shubha;Kosho Tomoki;Yap Patrick;Goyal Manisha;Clarke Lorne A;Sachdev Rani;McGillivray George;Leventer Richard J;Patel Chirag;Yamagata Takanori;Osaka Hitoshi;Hisaeda Yoshiya;Ohashi Hirofumi;Shimizu Kenji;Nagasaki Keisuke;Hamada

[7] The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.[J] van der Sluijs Pleuntje J;Jansen Sandra;Vergano Samantha A;Adachi-Fukuda Miho;Alanay Yasemin;AlKindy Adila;Baban Anwar;Bayat Allan;Beck-Wödl Stefanie;Berry Katherine;Bijlsma Emilia K;Bok Levinus A;Brouwer Alwin F J;van der Burgt Ineke;Campeau Philippe M;Canham Natalie;Chrzanowska Krystyna;Chu Yoyo W Y;Chung Brain H Y;Dahan Karin;De Rademaeker Marjan;Destree Anne;Dudding-Byth Tracy;Earl Rac

[8] Effects of growth hormone in the central nervous system.[J] Wasinski Frederick;Frazão Renata;Donato Jose Archives of endocrinology and metabolism 2019,

[9] Essential Roles for ARID1B in Dendritic Arborization and Spine Morphology of Developing Pyramidal Neurons.[J] Ka Minhan;Chopra Divyan A;Dravid Shashank M;Kim Woo-Yang The Journal of neuroscience : the official journal of the Society for Neuroscience 2016,

[10] The ARID1B phenotype: what we have learned so far.[J] Santen Gijs W E;Clayton-Smith Jill American journal of medical genetics. Part C, Seminars in medical genetics 2014,