|
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
|
28942966 |
2017 |
|
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
|
27513193 |
2017 |
|
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
ClinGen--the Clinical Genome Resource.
|
26014595 |
2015 |
|
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation.
|
24700502 |
2014 |
|
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.
|
22366787 |
2012 |
|
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
|
22426308 |
2012 |
|
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations.
|
22166941 |
2012 |
|
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
A 2.3Mb deletion of 17q24.2-q24.3 associated with 'Carney Complex plus'.
|
18848651 |
2009 |
|
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
The ISWI-containing NURF complex regulates the output of the canonical Wingless pathway.
|
19713963 |
2009 |
|
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
The nucleosome remodeling factor (NURF) regulates genes involved in Drosophila innate immunity.
|
18334252 |
2008 |
|
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Essential role of chromatin remodeling protein Bptf in early mouse embryos and embryonic stem cells.
|
18974875 |
2008 |
|
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Transcriptional regulator BPTF/FAC1 is essential for trophoblast differentiation during early mouse development.
|
18794365 |
2008 |
|
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
C. elegans ISWI and NURF301 antagonize an Rb-like pathway in the determination of multiple cell fates.
|
16774993 |
2006 |
|
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Molecular basis for site-specific read-out of histone H3K4me3 by the BPTF PHD finger of NURF.
|
16728978 |
2006 |
|
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
The Drosophila nucleosome remodeling factor NURF is required for Ecdysteroid signaling and metamorphosis.
|
16264191 |
2005 |
|
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Isolation of human NURF: a regulator of Engrailed gene expression.
|
14609955 |
2003 |
|
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Dual functions of largest NURF subunit NURF301 in nucleosome sliding and transcription factor interactions.
|
11583616 |
2001 |
|
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
FAC1 expression and localization in motor neurons of developing, adult, and amyotrophic lateral sclerosis spinal cord.
|
9225734 |
1997 |
|
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Purification and properties of an ATP-dependent nucleosome remodeling factor.
|
8521501 |
1995 |