Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.

Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.

Бусад хувилбаруудыг харуулах (1)

Craniofrontonasal syndrome (CFNS) is an X-linked developmental malformation, caused by mutations in the EFNB1 gene, which have only been described since 2004. A genotype-phenotype correlation seems not to be present. As it is of major importance to adequately counsel patients with EFNB1 mutations an...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид:	van den Elzen, M, Twigg, SR, Goos, J, Hoogeboom, A, van den Ouweland, A, Wilkie, A, Mathijssen, I
Формат:	Journal article
Хэл сонгох:	English
Хэвлэсэн:	2014

Ижил төстэй зүйлс

Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1
-н: Van Den Elzen, M, зэрэг
Хэвлэсэн: (2014)

Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.
-н: Vasudevan, P, зэрэг
Хэвлэсэн: (2006)

The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.
-н: Twigg, SR, зэрэг
Хэвлэсэн: (2006)

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.
-н: Twigg, SR, зэрэг
Хэвлэсэн: (2013)

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.
-н: Twigg, SR, зэрэг
Хэвлэсэн: (2004)

Craniofrontonasal syndrome caused by introduction of a novel uATG in the 5′UTR of EFNB1
-н: Tavares, VL, зэрэг
Хэвлэсэн: (2018)

A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome
-н: M. A. Ramirez-Garcia, зэрэг
Хэвлэсэн: (2013-01-01)

Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene
-н: Ewelina Bukowska-Olech, зэрэг
Хэвлэсэн: (2021-06-01)

Case report: Craniofrontonasal syndrome caused by a novel variant in the EFNB1 gene in a Colombian woman
-н: Harry Pachajoa, зэрэг
Хэвлэсэн: (2023-01-01)

Apparently synonymous substitutions in FGFR2affect splicing and result in mild Crouzon syndrome
-н: Fenwick, A, зэрэг
Хэвлэсэн: (2014)

Cooccurring Type 1 Diabetes Mellitus and Autoimmune Thyroiditis in a Girl with Craniofrontonasal Syndrome: Are <i>EFNB1</i> Variants Associated with Autoimmunity?
-н: Sebla Güneş, зэрэг
Хэвлэсэн: (2022-12-01)

Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice.
-н: Babbs, C, зэрэг
Хэвлэсэн: (2011)

Identification of mutations in TXNL4A in Burn-McKeown Syndrome and isolated choanal atresia
-н: Goos, J, зэрэг
Хэвлэсэн: (2017)

Identification of intragenic exon deletions and duplication of TCF12 by whole genome or targeted sequencing as a cause of TCF12-related craniosynostosis
-н: Goos, J, зэрэг
Хэвлэсэн: (2016)

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

Craniofrontonasal dysplasia syndrome: A rare case
-н: Biswajit Biswas, зэрэг
Хэвлэсэн: (2015-01-01)

Reduced blood pressure after smooth muscle EFNB2 deletion and the potential association of EFNB2 mutation with human hypertension risk
-н: Woodward, M, зэрэг
Хэвлэсэн: (2016)

Craniofrontonasal dysplasia: A case report
-н: Kanad Ghosh, зэрэг
Хэвлэсэн: (2023-06-01)

Chin wing osteotomy in a patient with craniofrontonasal dysplasia
-н: L. Verstraete, зэрэг
Хэвлэсэн: (2020-09-01)

The impact of CFNS-causing <it>EFNB1 </it>mutations on ephrin-B1 function
-н: Wieacker Peter, зэрэг
Хэвлэсэн: (2010-06-01)

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

Report of a Family with Craniofrontonasal Syndrome and Wolff-Parkinson-White Syndrome: Is it a New Finding?
-н: Celal Kilit, зэрэг

Inhibition of gap junction communication at ectopic Eph/ephrin boundaries underlies craniofrontonasal syndrome.
-н: Alice Davy, зэрэг
Хэвлэсэн: (2006-10-01)

FGFs, their receptors, and human limb malformations: clinical and molecular correlations.
-н: Wilkie, A, зэрэг
Хэвлэсэн: (2002)

Whole-Exome Sequencing Revealed Mutations of MED12 and EFNB1 in Fetal Agenesis of the Corpus Callosum
-н: Ying Jiang, зэрэг
Хэвлэсэн: (2019-11-01)

Cortical abnormalities and non-spatial learning deficits in a mouse model of CranioFrontoNasal syndrome.
-н: Dina N Arvanitis, зэрэг
Хэвлэсэн: (2014-01-01)

Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.
-н: Twigg, SR, зэрэг
Хэвлэсэн: (2009)

EPHRIN-B1 Mosaicism Drives Cell Segregation in Craniofrontonasal Syndrome hiPSC-Derived Neuroepithelial Cells
-н: Terren K. Niethamer, зэрэг
Хэвлэсэн: (2017-03-01)

Attention: Schizophrenia Risk Gene Product miR-137 Now Targeting EFNB2
-н: Paul A Tooney
Хэвлэсэн: (2016-10-01)

The Therapeutic Effects of EFNB2-Fc in a Cell Model of Kawasaki Disease
-н: Yijing Tao, зэрэг
Хэвлэсэн: (2023-03-01)

The effect of conditional EFNB1 deletion in the T cell compartment on T cell development and function
-н: Jin Wei, зэрэг
Хэвлэсэн: (2011-12-01)

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability
-н: Hamilton, M, зэрэг
Хэвлэсэн: (2017)

EFNB1 drives glioma progression and shapes the immune microenvironment: a potential prognostic biomarker
-н: Yungui Zheng, зэрэг
Хэвлэсэн: (2025-02-01)

Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.
-н: Twigg, S, зэрэг
Хэвлэсэн: (2015)

Hearing loss in a mouse model of Muenke syndrome.
-н: Mansour, S, зэрэг
Хэвлэсэн: (2009)

Functional analysis of natural mutations in two TWIST protein motifs.
-н: Funato, N, зэрэг
Хэвлэсэн: (2005)

Expression analysis of an FGFR2 IIIc 5' splice site mutation (1084+3A->G).
-н: Kan, R, зэрэг
Хэвлэсэн: (2004)

No, it is not mutually exclusive! A case report of a girl with two genetic diagnoses: Craniofrontonasal dysplasia and pontocerebellar hypoplasia type 1B
-н: Iman Ibrahim, зэрэг
Хэвлэсэн: (2023-05-01)

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.
-н: Sharma, V, зэрэг
Хэвлэсэн: (2013)

EFNB1 levels determine distinct drug response patterns guiding precision therapy for B-cell neoplasms
-н: Xiaoxi Li, зэрэг
Хэвлэсэн: (2024-01-01)