×
Entrez Id:
79648
Gene Symbol:
MCPH1
MCPH1
0.400
GeneticVariation
disease
BEFREE
The MCPH exhibits genetic heterogeneity with thirteen loci (MCPH1 -MCPH13) identified, and associated with variable degree of intellectual disability.
28756000
2018
×
Entrez Id:
79648
Gene Symbol:
MCPH1
MCPH1
0.400
GeneticVariation
disease
BEFREE
MCPH1 , mutated in primary microcephaly , is required for efficient chromosome alignment during mitosis.
29026105
2017
×
Entrez Id:
79648
Gene Symbol:
MCPH1
MCPH1
0.400
Biomarker
disease
BEFREE
Microcephalin (MCPH1 ) is identified as being responsible for the neurodevelopmental disorder primary microcephaly type 1, which is characterized by a smaller-than-normal brain size and mental retardation.
27197793
2016
×
Entrez Id:
79648
Gene Symbol:
MCPH1
MCPH1
0.400
GeneticVariation
disease
BEFREE
Mutations in the MCPH1 gene result in primary microcephaly in combination with a unique cellular phenotype of defective chromosome condensation.
25845520
2015
×
Entrez Id:
79648
Gene Symbol:
MCPH1
MCPH1
0.400
GeneticVariation
disease
BEFREE
Microcephalin 1 (MCPH1 ) gene, initially identified as an hTERT repressor, result in two autosomal recessive disorders: primary microcephaly and premature chromosome condensation syndrome.
25197360
2014
×
Entrez Id:
79648
Gene Symbol:
MCPH1
MCPH1
0.400
GeneticVariation
disease
BEFREE
Mutations in the MCPH1 (Microcephalin ) and ASPM (abnormal spindle-like microcephaly associated) genes cause primary microcephaly .
24830737
2014
×
Entrez Id:
79648
Gene Symbol:
MCPH1
MCPH1
0.400
GeneticVariation
disease
BEFREE
MCPH1 mutations cause primary microcephaly in humans.
23516444
2013
×
Entrez Id:
79648
Gene Symbol:
MCPH1
MCPH1
0.400
GeneticVariation
disease
BEFREE
Mutations in the MCPH1 gene cause primary microcephaly associated with a unique cellular phenotype of misregulated chromosome condensation.
21150325
2010
×
Entrez Id:
79648
Gene Symbol:
MCPH1
MCPH1
0.400
Biomarker
disease
BEFREE
Replication-independent G2/M checkpoint arrest represents a suitable assay to specifically identify patients with defective ATR signalling, including Seckel syndrome, Nijmegen breakage syndrome and MCPH-1 -dependent primary microcephaly .
18664457
2008
×
Entrez Id:
79648
Gene Symbol:
MCPH1
MCPH1
0.400
Biomarker
disease
BEFREE
Misregulated chromosome condensation in MCPH1 primary microcephaly is mediated by condensin II.
16434882
2006
×
Entrez Id:
79648
Gene Symbol:
MCPH1
MCPH1
0.400
Biomarker
disease
BEFREE
MCPH1 , the first Primary Microcephaly causative gene identified, encodes three BRCT domains, similar to other damage response proteins.
17102619
2006
×
Entrez Id:
79648
Gene Symbol:
MCPH1
MCPH1
0.400
Biomarker
disease
BEFREE
BRIT1 is identical to the recently discovered MCPH1 gene, found mutant in patients with primary microcephaly .
16217032
2005
×
Entrez Id:
79648
Gene Symbol:
MCPH1
MCPH1
0.400
GeneticVariation
disease
BEFREE
Microcephalin (MCPH1 ) and Abnormal spindle-like microcephaly associated (ASPM) are genes mutated in primary microcephaly , a human neurodevelopmental disorder.
15917198
2005
×
Entrez Id:
79648
Gene Symbol:
MCPH1
MCPH1
0.400
GeneticVariation
disease
BEFREE
We previously mapped the MCPH1 locus, for primary microcephaly , to chromosome 8p23, and here we report that a gene within this interval, encoding a BRCA1 C-terminal domain-containing protein, is mutated in MCPH1 families sharing an ancestral 8p23 haplotype.
12046007
2002
×
Entrez Id:
79648
Gene Symbol:
MCPH1
MCPH1
0.400
Biomarker
disease
GENOMICS_ENGLAND