Associated Papers
Evaluation of Sporadic and Familial Cases with Craniofrontonasal Syndrome: A Wide Clinical Spectrum and Identification of a Novel EFNB1 Gene Mutation.
Gürsoy S et al.
Molecular Syndromology, 2021
Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation.
Acosta-Fernández E et al.
American Journal of Medical Genetics. Part A, 2020
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
Ziats MN et al.
Pediatric Research, 2020
Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay.
Han JY et al.
Frontiers in Pediatrics, 2020
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Depression and hyperactivity in two patients with craniofrontonasal syndrome.
Fischer M et al.
American Journal of Medical Genetics. Part A, 2016
A novel EFNB1 mutation in a patient with craniofrontonasal syndrome and right hallux duplication.
Seven M et al.
Gene, 2013
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.
Twigg SR et al.
Human Molecular Genetics, 2013
The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function.
Makarov R et al.
Bmc Medical Genetics, 2010
Additional EFNB1 mutations in craniofrontonasal syndrome.
Wallis D et al.
American Journal of Medical Genetics. Part A, 2008
Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.
Passos-Bueno MR et al.
Frontiers of Oral Biology, 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
Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox.
Wieacker P et al.
Molecular Genetics and Metabolism, 0