Language development, hearing loss, and intracranial hypertension in children with TWIST1-confirmed Saethre-Chotzen syndrome

Language development, hearing loss, and intracranial hypertension in children with TWIST1-confirmed Saethre-Chotzen syndrome

<p>Saethre-Chotzen syndrome (SCS) is an autosomal dominant condition defined by mutations affecting the TWIST1 gene on chromosome 7p21.1. Previous research has identified an elevated prevalence of intracranial hypertension and hearing impairment associated with this syndrome. This study aimed...

Bibliografiset tiedot
Päätekijät:	Kilcoyne, S, Luscombe, C, Scully, P, Jayamohan, J, Magdum, S, Wall, S, Johnson, D, Wilkie, AOM
Aineistotyyppi:	Journal article
Kieli:	English
Julkaistu:	Lippincott, Williams and Wilkins 2019

Samankaltaisia teoksia

Intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome
Tekijä: Woods, R, et al.
Julkaistu: (2009)

Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.
Tekijä: Woods, R, et al.
Julkaistu: (2009)

Disruption of TWIST1 translation by 5′ UTR variants in Saethre‐Chotzen syndrome
Tekijä: Zhou, Y, et al.
Julkaistu: (2018)

Síndrome de Saethre-Chotzen
Tekijä: Elayne Esther Santana Hernández, et al.

P362: Chromosomal 7p deletion associated with Saethre-Chotzen syndrome
Tekijä: Milena Fraustro, et al.
Julkaistu: (2024-01-01)

Case report: Primary stabbing headache treated with melatonin in Saethre-Chotzen syndrome
Tekijä: Florian Frank, et al.
Julkaistu: (2023-10-01)

Correção de estrabismo em paciente com síndrome de Saethre-Chotzen
Tekijä: Thiago Gonçalves dos Santos Martins, et al.
Julkaistu: (2013-06-01)

Feeding, communication, hydrocephalus, and intracranial hypertension in patients with severe FGFR2-associated Pfeiffer syndrome
Tekijä: Kilcoyne, S, et al.
Julkaistu: (2021)

Altered bone growth dynamics prefigure craniosynostosis in a zebrafish model of Saethre-Chotzen syndrome
Tekijä: Camilla S Teng, et al.
Julkaistu: (2018-10-01)

Prenatal diagnosis of chromothripsis causing complex chromosomal rearrangement involving chromosomes 5, 7 and 11 leading to TWIST1 deletion and Saethre-Chotzen syndrome
Tekijä: Ivana Joksic, et al.
Julkaistu: (2025-01-01)

Hearing, speech, language and communicative participation in patients with Apert syndrome: analysis of correlation with Fibroblast Growth Factor Receptor 2 mutation
Tekijä: Kilcoyne, S, et al.
Julkaistu: (2021)

Case report: A third variant in the 5′ UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome
Tekijä: Diaz-Gonzalez, F, et al.
Julkaistu: (2023)

Case report: A third variant in the 5′ UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome
Tekijä: Francisca Diaz-Gonzalez, et al.
Julkaistu: (2023-01-01)

Pharmacological targeting of KDM6A and KDM6B, as a novel therapeutic strategy for treating craniosynostosis in Saethre-Chotzen syndrome
Tekijä: Clara Pribadi, et al.
Julkaistu: (2020-12-01)

The incidence of raised intracranial pressure in nonsyndromic sagittal craniosynostosis following primary surgery.
Tekijä: Thomas, G, et al.
Julkaistu: (2015)

Raised intracranial pressure is frequent in untreated nonsyndromic unicoronal synostosis and does not correlate with severity of phenotypic features.
Tekijä: Eley, K, et al.
Julkaistu: (2012)

Hearing loss in a mouse model of Muenke syndrome.
Tekijä: Mansour, S, et al.
Julkaistu: (2009)

An integrated approach to the management of meningoencephalocoeles
Tekijä: Roumeliotis, G, et al.
Julkaistu: (2021)

Hearing loss and hypertension: exploring the linkage
Tekijä: John Adekunle Babarinde, et al.
Julkaistu: (2021-09-01)

Hearing loss among hypertensive patients
Tekijä: Stephen S. Yikawe, et al.
Julkaistu: (2019-08-01)

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Julkaistu: (2022-12-01)

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Tekijä: Memoona Ramzan, et al.
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Tekijä: S. Mollan, et al.
Julkaistu: (2021-01-01)

Intracranial haemorrhage in Childhood ITP: An unfortunate twist of fate
Tekijä: Dr. Richa, et al.
Julkaistu: (2016-01-01)

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Tekijä: John Masterson, et al.
Julkaistu: (2018-03-01)

Risperidone induced benign intracranial hypertension leading to visual loss
Tekijä: Sushil Thomas Alexander, et al.
Julkaistu: (2016-01-01)

Relationship Between Hypertension and Hearing Loss: Analysis of the Related Factors
Tekijä: Hou Y, et al.
Julkaistu: (2024-05-01)

Contralateral Hearing Loss in Temporal Bone Fractures: A Potential Association with Combined Intracranial Injury
Tekijä: Bum-Joon Kim, et al.
Julkaistu: (2024-05-01)

Functional analysis of natural mutations in two TWIST protein motifs.
Tekijä: Funato, N, et al.
Julkaistu: (2005)

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Tekijä: Siti Rokiah Siwok, 1960-, author 603882, et al.
Julkaistu: (2012)

OccupationalHearing NImpairmentoise-induced Hearing Loss and Hypertension Associated with Long Term Occupational Exposure to Noise
Tekijä: A. Rajaei-Fard, et al.
Julkaistu: (2008-10-01)

Evaluation of the Newborn Hearing Screening Program in the University of Santo Tomas Hospital Based on the Joint Committee on Infant Hearing 2019 Position Statement on Quality Indicators for Screening and Confirmation of Hearing Loss
Tekijä: Lloyd Paolo Crizaldo, et al.
Julkaistu: (2023-06-01)

Association of the protective effect of telmisartan on hearing loss among patients with hypertension
Tekijä: Jung-Joon Cha, et al.
Julkaistu: (2024-08-01)

Temporal encephalocele: An epileptogenic focus confirmed by direct intracranial electroencephalography
Tekijä: Shruti Agashe, et al.
Julkaistu: (2023-01-01)

Idiopathic intracranial hypertension: the association between weight loss and the requirement for systemic treatment
Tekijä: Pandey Pravin, et al.
Julkaistu: (2007-09-01)

Intracranial hypertension and visual loss following COVID-19: A case report
Tekijä: Bayazit Ilhan, et al.
Julkaistu: (2021-01-01)

Trajectory of hearing loss in children with unilateral hearing loss
Tekijä: Elizabeth M. Fitzpatrick, et al.
Julkaistu: (2023-04-01)

Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure.
Tekijä: Bendon, C, et al.
Julkaistu: (2012)

Idiopathic intracranial hypertension.
Tekijä: Wakerley, B, et al.
Julkaistu: (2014)

Idiopathic Intracranial Hypertension
Tekijä: J Gordon Millichap
Julkaistu: (2001-08-01)