ERF‐related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome

Mutations in the ERF gene, coding for ETS2 repressor factor, a member of the ETS family of transcription factors cause a recently recognized syndromic form of craniosynostosis (CRS4) with facial dysmorphism, Chiari‐1 malformation, speech and language delay, and learning difficulties and/or behaviora...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид:	Glass, G, O’Hara, J, Canham, N, Cilliers, D, Dunaway, D, Fenwick, A, Jeelani, N, Johnson, D, Lester, T, Lord, H, Morton, J, Nishikawa, H, Noons, P, Schwiebert, K, Shipster, C, Taylor-Beadling, A, Twigg, S, Vasudevan, P, Wall, S, Wilkie, A, Wilson, L
Формат:	Journal article
Хэвлэсэн:	John Wiley and Sons, Ltd. 2019

Ижил төстэй зүйлс

Development of Erf-mediated craniosynostosis and pharmacological amelioration
-н: Vogiatzi, A, зэрэг
Хэвлэсэн: (2023)

Clinical genetics of craniosynostosis
-н: Wilkie, A, зэрэг
Хэвлэсэн: (2017)

Craniosynostosis
-н: Johnson, D, зэрэг
Хэвлэсэн: (2011)

Diagnostic value of exome and whole genome sequencing in craniosynostosis
-н: Miller, K, зэрэг
Хэвлэсэн: (2016)

A genetic-pathophysiological framework for craniosynostosis
-н: Twigg, S, зэрэг
Хэвлэсэн: (2015)

Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.
-н: Wilkie, A, зэрэг
Хэвлэсэн: (2010)

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis
-н: Twigg, S, зэрэг
Хэвлэсэн: (2013)

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.
-н: Twigg, S, зэрэг
Хэвлэсэн: (2013)

Reassessing the association: evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis
-н: Walton, IS, зэрэг
Хэвлэсэн: (2024)

Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non‐syndromic sagittal and metopic craniosynostosis
-н: Walton, IS, зэрэг
Хэвлэсэн: (2024)

Craniosynostosis
-н: I. T. Jackson, зэрэг
Хэвлэсэн: (1987-02-01)

Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure.
-н: Bendon, C, зэрэг
Хэвлэсэн: (2012)

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation
-н: Calpena, E, зэрэг
Хэвлэсэн: (2020)

The identification and characterisation of disease genes in craniosynostosis
-н: Fenwick, AL
Хэвлэсэн: (2015)

Craniosynostosis
-н: Josephine Jung, зэрэг
Хэвлэсэн: (2019-01-01)

Craniosynostosis
-н: Ramesh Kumar Sharma
Хэвлэсэн: (2013-01-01)

Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis.
-н: Bochukova, E, зэрэг
Хэвлэсэн: (2010)

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
-н: Wilkie, A, зэрэг
Хэвлэсэн: (2006)

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
-н: Wilkie, A, зэрэг
Хэвлэсэн: (2007)

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
-н: Wilkie, A, зэрэг
Хэвлэсэн: (2007)

Management of Craniosynostosis
-н: J Gordon Millichap
Хэвлэсэн: (2002-07-01)

Review of recurrently mutated genes in craniosynostosis supports expansion of diagnostic gene panels
-н: Tooze, RS, зэрэг
Хэвлэсэн: (2023)

Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure
-н: Bendon Charlotte L, зэрэг
Хэвлэсэн: (2012-11-01)

Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis.
-н: Rannan-Eliya, S, зэрэг
Хэвлэсэн: (2004)

Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders
-н: Calpena, E, зэрэг
Хэвлэсэн: (2021)

Mutations in CDC45, encoding an essential component of the pre-initiation complex, cause Meier-Gorlin Syndrome and Craniosynostosis
-н: Fenwick, A, зэрэг
Хэвлэсэн: (2016)

Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance
-н: Tooze, RS, зэрэг
Хэвлэсэн: (2023)

Pure de novo partial trisomy 6p in a girl with craniosynostosis
-н: Varvagiannis, K, зэрэг
Хэвлэсэн: (2013)

Pure de novo partial trisomy 6p in a girl with craniosynostosis.
-н: Varvagiannis, K, зэрэг
Хэвлэсэн: (2013)

The management of craniosynostosis in Australia and New Zealand
-н: William A Ziaziaris, зэрэг
Хэвлэсэн: (2019-03-01)

The clinical management of craniosynostosis /
-н: Hayward, Richard
Хэвлэсэн: (2004)

Optic neuropathy in craniosynostosis
-н: Tais Estrela, зэрэг
Хэвлэсэн: (2024-01-01)

Craniosynostosis Prevalence and Treatment
-н: J Gordon Millichap
Хэвлэсэн: (1997-02-01)

Craniosynostosis: Overview Update
-н: Minu Bajpai
Хэвлэсэн: (2023-02-01)

Measurement and Diagnosis of Lambdoid Craniosynostosis
-н: Mario Blondin, MD, зэрэг
Хэвлэсэн: (2023-10-01)

Gain-of-function mutations in ZIC1 are associated with coronal craniosynostosis and learning disability
-н: Twigg, S, зэрэг
Хэвлэсэн: (2015)

Combined Dynamic Osteotomies for Craniosynostosis
-н: Vera Lúcia N. Cardim, MD, PhD, зэрэг
Хэвлэсэн: (2023-08-01)

A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report
-н: Izabella Körberg, зэрэг
Хэвлэсэн: (2020-05-01)

FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis.
-н: Thomas, G, зэрэг
Хэвлэсэн: (2005)

Non-Syndromic Craniosynostosis in Children: Scoping Review
-н: Hamidullaev D.I., зэрэг
Хэвлэсэн: (2022-12-01)