Associated Papers
Clinical and Molecular Analyses in 8 New Craniofrontonasal Syndrome Families: Revisiting the Mild End of the Phenotypic Spectrum in Females.
Altunoglu U et al.
Turkish Archives of Pediatrics, 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
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis.
Tønne E et al.
European Journal of Human Genetics : Ejhg, 2021
A flexible computational pipeline for research analyses of unsolved clinical exome cases.
Lassmann T et al.
Npj Genomic Medicine, 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
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.
Lee E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
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
The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function.
Makarov R et al.
Bmc Medical Genetics, 2010
Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic.
Wieland I et al.
European Journal of Human Genetics : Ejhg, 2008
Gene symbol: EFNB1. Disease: Craniofrontonasal syndrome.
Wieland I et al.
Human Genetics, 2008
Gene symbol: EFNB1. Disease: Craniofrontonasal syndrome.
Wieland I et al.
Human Genetics, 2008
Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.
Passos-Bueno MR et al.
Frontiers of Oral Biology, 2008
Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome.
Wieland I et al.
Clinical Genetics, 2007
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
Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome.
Wieland I et al.
American Journal of Human Genetics, 2004