|
Craniosynostosis, Type 1
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.
|
25271085 |
2015 |
|
Craniosynostosis, Type 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
|
24127277 |
2013 |
|
Craniosynostosis, Type 1
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
|
24127277 |
2013 |
|
Craniosynostosis, Type 1
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
LOVD v.2.0: the next generation in gene variant databases.
|
21520333 |
2011 |
|
Craniosynostosis, Type 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.
|
20643727 |
2010 |
|
Craniosynostosis, Type 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis.
|
19755431 |
2010 |
|
Craniosynostosis, Type 1
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Saethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family.
|
20184424 |
2010 |
|
Craniosynostosis, Type 1
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study.
|
19373776 |
2009 |
|
Craniosynostosis, Type 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study.
|
19373776 |
2009 |
|
Craniosynostosis, Type 1
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.
|
19483581 |
2009 |
|
Craniosynostosis, Type 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations.
|
17343269 |
2007 |
|
Craniosynostosis, Type 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations.
|
17343269 |
2007 |
|
Craniosynostosis, Type 1
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis.
|
17693524 |
2007 |
|
Craniosynostosis, Type 1
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome.
|
16251895 |
2006 |
|
Craniosynostosis, Type 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome.
|
16251895 |
2006 |
|
Craniosynostosis, Type 1
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and genetic analysis of patients with Saethre-Chotzen syndrome.
|
15923834 |
2005 |
|
Craniosynostosis, Type 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.
|
14513358 |
2003 |
|
Craniosynostosis, Type 1
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
A Twist in fate: evolutionary comparison of Twist structure and function.
|
11992718 |
2002 |
|
Craniosynostosis, Type 1
|
0.700 |
Biomarker
|
disease |
CTD_human |
Craniosynostosis in Twist heterozygous mice: a model for Saethre-Chotzen syndrome.
|
12221714 |
2002 |
|
Craniosynostosis, Type 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A Twist in fate: evolutionary comparison of Twist structure and function.
|
11992718 |
2002 |
|
Craniosynostosis, Type 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the human TWIST gene.
|
10649491 |
2000 |
|
Craniosynostosis, Type 1
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.
|
9585583 |
1998 |
|
Craniosynostosis, Type 1
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.
|
9792856 |
1998 |
|
Craniosynostosis, Type 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mutations of the TWIST gene in the Saethre-Chotzen syndrome.
|
8988167 |
1997 |
|
Craniosynostosis, Type 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations of the TWIST gene in the Saethre-Chotzen syndrome.
|
8988167 |
1997 |