Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome

Autor: Y A, Zarate, L, Kalsner, A, Basinger, J R, Jones, C, Li, M, Szybowska, Z L, Xu, S, Vergano, A R, Caffrey, C V, Gonzalez, H, Dubbs, E, Zackai, F, Millan, A, Telegrafi, B, Baskin, R, Person, J L, Fish, D B, Everman

Publikováno v: Clinical genetics. 92(4)

SATB2-associated syndrome (SAS) is a multisystemic disorder caused by alterations of the SATB2 gene. We describe the phenotype and genotype of 12 individuals with 10 unique (de novo in 11 of 11 tested) pathogenic variants (1 splice site, 5 frameshift

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::853d7cf5e0aba0176af24c01d422ecf9
https://pubmed.ncbi.nlm.nih.gov/28139846

Update on Identification and Treatment of Infants and Toddlers With Suspected Childhood Apraxia of Speech.

Autor: Highman, Chantelle¹ c.highman@curtin.edu.au, Overby, Megan¹, Leitão, Suze¹, Abbiati, Claudia², Velleman, Shelley²

Publikováno v: Journal of Speech, Language & Hearing Research. 2024 Supplement, Vol. 67, p3288-3308. 21p.

Hypermobility syndrome

Autor: D. B. Everman, N. H. Robin

Publikováno v: Pediatrics in review. 19(4)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60d3cbe5cfed197cbab51323f3fe969a
https://pubmed.ncbi.nlm.nih.gov/9557061

Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature.

Autor: Tolezano GC; Department of Genetics and Evolutionary Biology, Human Genome and Stem-Cell Research Center, Institute of Biosciences, University of São Paulo, 106 Rua do Matão, São Paulo, SP, 05508-090, Brazil., Bastos GC; Department of Genetics and Evolutionary Biology, Human Genome and Stem-Cell Research Center, Institute of Biosciences, University of São Paulo, 106 Rua do Matão, São Paulo, SP, 05508-090, Brazil., da Costa SS; Department of Genetics and Evolutionary Biology, Human Genome and Stem-Cell Research Center, Institute of Biosciences, University of São Paulo, 106 Rua do Matão, São Paulo, SP, 05508-090, Brazil., Freire BL; Unidade de Endocrinologia Genética (LIM25), Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, 455 Avenida Doutor Arnaldo, São Paulo, SP, 01246-903, Brazil., Homma TK; Unidade de Endocrinologia Genética (LIM25), Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, 455 Avenida Doutor Arnaldo, São Paulo, SP, 01246-903, Brazil., Honjo RS; Unidade de Genética do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, 647 Avenida Doutor Enéas Carvalho de Aguiar, São Paulo, SP, 05403-900, Brazil., Yamamoto GL; Department of Genetics and Evolutionary Biology, Human Genome and Stem-Cell Research Center, Institute of Biosciences, University of São Paulo, 106 Rua do Matão, São Paulo, SP, 05508-090, Brazil.; Unidade de Genética do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, 647 Avenida Doutor Enéas Carvalho de Aguiar, São Paulo, SP, 05403-900, Brazil., Passos-Bueno MR; Department of Genetics and Evolutionary Biology, Human Genome and Stem-Cell Research Center, Institute of Biosciences, University of São Paulo, 106 Rua do Matão, São Paulo, SP, 05508-090, Brazil., Koiffmann CP; Department of Genetics and Evolutionary Biology, Human Genome and Stem-Cell Research Center, Institute of Biosciences, University of São Paulo, 106 Rua do Matão, São Paulo, SP, 05508-090, Brazil., Kim CA; Unidade de Genética do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, 647 Avenida Doutor Enéas Carvalho de Aguiar, São Paulo, SP, 05403-900, Brazil., Vianna-Morgante AM; Department of Genetics and Evolutionary Biology, Human Genome and Stem-Cell Research Center, Institute of Biosciences, University of São Paulo, 106 Rua do Matão, São Paulo, SP, 05508-090, Brazil., de Lima Jorge AA; Unidade de Endocrinologia Genética (LIM25), Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, 455 Avenida Doutor Arnaldo, São Paulo, SP, 01246-903, Brazil., Bertola DR; Department of Genetics and Evolutionary Biology, Human Genome and Stem-Cell Research Center, Institute of Biosciences, University of São Paulo, 106 Rua do Matão, São Paulo, SP, 05508-090, Brazil.; Unidade de Genética do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, 647 Avenida Doutor Enéas Carvalho de Aguiar, São Paulo, SP, 05403-900, Brazil., Rosenberg C; Department of Genetics and Evolutionary Biology, Human Genome and Stem-Cell Research Center, Institute of Biosciences, University of São Paulo, 106 Rua do Matão, São Paulo, SP, 05508-090, Brazil., Krepischi ACV; Department of Genetics and Evolutionary Biology, Human Genome and Stem-Cell Research Center, Institute of Biosciences, University of São Paulo, 106 Rua do Matão, São Paulo, SP, 05508-090, Brazil. ana.krepischi@ib.usp.br.; Institute of Biosciences, University of São Paulo, 277 Rua do Matão, São Paulo, SP, 05508-090, Brazil. ana.krepischi@ib.usp.br.

Publikováno v: Journal of autism and developmental disorders [J Autism Dev Disord] 2024 Mar; Vol. 54 (3), pp. 1181-1212. Date of Electronic Publication: 2022 Dec 11.

RAF1 mutation leading to hypertrophic cardiomyopathy in a Chinese family with a history of sudden cardiac death: A diagnostic insight into Noonan syndrome.

Autor: Zheng, Jingjing^1,2 (AUTHOR), Peng, Longyun³ (AUTHOR), Cheng, Ruofei^1,2 (AUTHOR), Li, Zhiyan^1,2 (AUTHOR), Xie, Jianjie^1,2 (AUTHOR), Huang, Erwen^1,2 (AUTHOR) huangerw@mail.sysu.edu.cn, Cheng, Jianding^1,2 (AUTHOR) chengjd@mail.sysu.edu.cn, Zhao, Qianhao^1,2 (AUTHOR) zhaoqh5@mail.sysu.edu.cn

Publikováno v: Molecular Genetics & Genomic Medicine. Jan2024, Vol. 12 Issue 1, p1-9. 9p.