Cargando…

Language Impairments in Individuals With Coffin-Siris Syndrome

Coffin-Siris syndrome (CSS, MIM 135900) is a now well-described, multiple congenital anomaly/intellectual disability syndrome classically characterized by fifth digit/nail hypoplasia, coarse facial features, and a range of organ-system related anomalies. Since its initial description in 1970, and th...

Descripción completa

Detalles Bibliográficos
Autores principales:	Vasko, Ashley, Schrier Vergano, Samantha A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Neuroscience
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8811135/ https://www.ncbi.nlm.nih.gov/pubmed/35126043 http://dx.doi.org/10.3389/fnins.2021.802583

Ejemplares similares

Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome
por: Vasko, Ashley, et al.
Publicado: (2021)

Coffin–Siris syndrome: Clinical description of two cases
por: Hollander, Nina, et al.
Publicado: (2022)

Anesthetic management in a child with Coffin Siris syndrome
por: Parikh, Badal, et al.
Publicado: (2023)

Autism spectrum disorder and Coffin–Siris syndrome—Case report
por: Milutinovic, Luka, et al.
Publicado: (2023)

Successful difficult airway management of a child with Coffin‐siris syndrome
por: Ozkan, Ahmet Selim, et al.
Publicado: (2017)

A de novo variant of BICRA results in Coffin–Siris syndrome 12
por: Tu, Youquan, et al.
Publicado: (2023)

Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report
por: Goyal, Deepak, et al.
Publicado: (2010)

Microspherophakic Angle Closure Glaucoma in a Patient with Coffin-Siris Syndrome: Case Report
por: Rojananuangnit, Kulawan, et al.
Publicado: (2023)

Simple schwannomatosis or an incomplete Coffin-Siris? Report of a particular case
por: Bellantoni, G., et al.
Publicado: (2018)

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
por: van der Sluijs, Pleuntje J., et al.
Publicado: (2018)

Multiple Developmental Defects in sox11a Mutant Zebrafish with Features of Coffin-Siris Syndrome
por: Jia, Shaoting, et al.
Publicado: (2020)

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
por: van der Sluijs, Pleuntje J., et al.
Publicado: (2019)

Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects
por: Filatova, Alina, et al.
Publicado: (2019)

ARID2, a Rare Cause of Coffin–Siris Syndrome: A Clinical Description of Two Cases
por: Wang, Xiaoyan, et al.
Publicado: (2022)

Identification and functional analysis of novel SOX11 variants in Chinese patients with Coffin-Siris syndrome 9
por: Ding, Yu, et al.
Publicado: (2022)

Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature
por: Nemani, Lalita, et al.
Publicado: (2014)

Vitiligo and melanocytic nevi: New findings in Coffin-Siris syndrome associated with ARID1 germline mutation
por: Tchanque-Fossuo, Catherine N., et al.
Publicado: (2018)

De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome
por: Pranckėnienė, Laura, et al.
Publicado: (2019)

First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review
por: Diel, Heidi, et al.
Publicado: (2021)

ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome
por: Miyatake, Satoko, et al.
Publicado: (2017)

Two SOX11 variants cause Coffin–Siris syndrome with a new feature of sensorineural hearing loss
por: Wang, Qiuquan, et al.
Publicado: (2022)

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome
por: Hempel, Annmarie, et al.
Publicado: (2016)

A case of Coffin–Siris syndrome with severe congenital heart disease and a novel SMARCA4 variant
por: Dsouza, Nikita R., et al.
Publicado: (2019)

Correction to: First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review
por: Diel, Heidi, et al.
Publicado: (2021)

Maternal transmission of a mild Coffin–Siris syndrome phenotype caused by a SOX11 missense variant
por: Hanker, Britta, et al.
Publicado: (2021)

BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes
por: Aref-Eshghi, Erfan, et al.
Publicado: (2018)

A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome
por: Kaname, Tadashi, et al.
Publicado: (2017)

Novel ARID1B variant inherited from somatogonadal mosaic mother in siblings with Coffin-Siris syndrome 1
por: Min, Zhong, et al.
Publicado: (2021)

Short stature and melanocytic nevi in a girl with ARID1B-related Coffin-Siris syndrome: a case report
por: Tao, Dong-Ying, et al.
Publicado: (2022)

SMARCA4 inactivating mutations cause concomitant Coffin–Siris syndrome, microphthalmia and small‐cell carcinoma of the ovary hypercalcaemic type
por: Errichiello, Edoardo, et al.
Publicado: (2017)

Identification of a de novo splicing variant in the Coffin–Siris gene, SMARCE1, in a patient with Angelman‐like syndrome
por: Aguilera, Cinthia, et al.
Publicado: (2018)

Pituitary hypoplasia and growth hormone deficiency in a patient with Coffin-Siris syndrome and severe short stature: case report and literature review
por: Bilha, Stefana Catalina, et al.
Publicado: (2022)

A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome
por: Sofronova, Viktoriia, et al.
Publicado: (2022)

Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome
por: Grochowski, Christopher M., et al.
Publicado: (2021)

Animal Models for Coffin-Lowry Syndrome: RSK2 and Nervous System Dysfunction
por: Fischer, Matthias, et al.
Publicado: (2018)

Experimental Research on Manson–Coffin Curves for the Frame Material of an Unconventional Vehicle
por: Blatnický, Miroslav, et al.
Publicado: (2022)

Talking to Siri: learning the language of Apple's intelligent assistant
por: Sadun, Erica, et al.
Publicado: (2013)

Talking to Siri: mastering the language of Apple's intelligent assistant
por: Sadun, Erica, et al.
Publicado: (2014)

Experimental Determination of the Manson−Coffin Curves for an Original Unconventional Vehicle Frame
por: Sága, Milan, et al.
Publicado: (2020)

Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin–Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing
por: Lu, Guanting, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_btbfn8arbrola8ln478f8mhh8g