Condition: Craniosynostosis, Type 1


rs1555750816 in ERF gene and Craniosynostosis, Type 1 PMID 23354439 2013 Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.

PMID 28808027 2017 De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis.

rs121909188 in TWIST1 gene and Craniosynostosis, Type 1 PMID 24127277 2013 Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

PMID 8988167 1997 Mutations of the TWIST gene in the Saethre-Chotzen syndrome.

PMID 10649491 2000 Mutations in the human TWIST gene.

PMID 20643727 2010 Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

PMID 19373776 2009 Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study.

PMID 17343269 2007 Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations.

PMID 16251895 2006 Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome.

PMID 19755431 2010 Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis.

PMID 8988166 1997 Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.

PMID 11992718 2002 A Twist in fate: evolutionary comparison of Twist structure and function.

PMID 14513358 2003 Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.

PMID 20184424 2010 Saethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family.

PMID 25271085 2015 Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.

PMID 9792856 1998 A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.

PMID 9585583 1998 Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

PMID 15923834 2005 Clinical and genetic analysis of patients with Saethre-Chotzen syndrome.

PMID 19483581 2009 Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.

PMID 17693524 2007 Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.