Associated Papers
Comprehensive analysis of the EFNB1 gene c.451G>A(p.Gly151Ser) mutation: structural, functional, and pathogenicity insights through in silico analysis.
Yang X et al.
Computers in Biology and Medicine, 2025
Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene.
Bukowska-Olech E et al.
Orphanet Journal of Rare Diseases, 2021
Report of a Family with Craniofrontonasal Syndrome and Wolff-Parkinson-White Syndrome: Is it a New Finding?
Kilit C et al.
Arquivos Brasileiros De Cardiologia, 2019
MicroRNA-655-3p and microRNA-497-5p inhibit cell proliferation in cultured human lip cells through the regulation of genes related to human cleft lip.
Gajera M et al.
Bmc Medical Genomics, 2019
First Korean Patients with Craniofrontonasal Syndrome Confirmed by EFNB1 Analysis.
Yoo H et al.
Annals of Clinical and Laboratory Science, 2016
A Family with Craniofrontonasal Syndrome and a Mutation (p.G151S) in the EFNB1 Gene: Expanding the Phenotype.
Toral-López J et al.
Molecular Syndromology, 2016
Report of a family with craniofrontonasal syndrome.
Özylmaz B et al.
Clinical Dysmorphology, 2015
Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.
van den Elzen ME et al.
European Journal of Human Genetics : Ejhg, 2014
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Additional EFNB1 mutations in craniofrontonasal syndrome.
Wallis D et al.
American Journal of Medical Genetics. Part A, 2008
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.
Twigg SR et al.
American Journal of Human Genetics, 2006
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).
Wieland I et al.
Human Mutation, 2005
[Association of Wolff-Parkinson-White syndrome with congenital bone abnormalities of the hands and feet].
Gimenez VM et al.
Arquivos Brasileiros De Cardiologia, 1978
[Familial occurrence of Wolff-Parkinson-White syndrome. Report of a family group and review of the literature].
Mispireta JL et al.
Archivos Del Instituto De Cardiologia De Mexico, 0
Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox.
Wieacker P et al.
Molecular Genetics and Metabolism, 0
Meta-analysis and systematic review for the genetic basis of cleft lip and palate.
Alghonemy WY et al.
Journal of Oral Biology and Craniofacial Research, 0