|
Sotos' syndrome
|
0.700 |
Biomarker
|
disease |
CLINGEN |
The results indicate that haploinsufficiency of NSD1 is the major cause of Sotos syndrome.
|
11896389 |
2002 |
|
Sotos' syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
The results indicate that haploinsufficiency of NSD1 is the major cause of Sotos syndrome.
|
11896389 |
2002 |
|
Sotos' syndrome
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Recently, a 2.2-Mb chromosome 5q35 microdeletion, encompassing NSD1, was reported as the major cause of Sotos syndrome, with intragenic NSD1 mutations identified in a minority of cases.
|
12464997 |
2003 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recently, a 2.2-Mb chromosome 5q35 microdeletion, encompassing NSD1, was reported as the major cause of Sotos syndrome, with intragenic NSD1 mutations identified in a minority of cases.
|
12464997 |
2003 |
|
Sotos' syndrome
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene.
|
12525543 |
2003 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
It has been shown that the major cause of SoS is haploinsufficiency of the NSD1 gene at 5q35, because the majority of patients had either a common microdeletion including NSD1 or a truncated type of point mutation in NSD1.
|
12687502 |
2003 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We conclude therefore that NSD1 mutations account for most cases of Sotos syndrome and a significant number of Weaver syndrome cases in our series.
|
12807965 |
2003 |
|
Sotos' syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
We conclude therefore that NSD1 mutations account for most cases of Sotos syndrome and a significant number of Weaver syndrome cases in our series.
|
12807965 |
2003 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We previously showed that haploinsufficiency of the NSD1 gene is the major cause of SoS, and submicroscopic deletions at 5q35, including NSD1, were found in about a half (20/42) of our patients examined.
|
14517949 |
2003 |
|
Sotos' syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
We previously showed that haploinsufficiency of the NSD1 gene is the major cause of SoS, and submicroscopic deletions at 5q35, including NSD1, were found in about a half (20/42) of our patients examined.
|
14517949 |
2003 |
|
Sotos' syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
The results indicate that the great majority of patients with Sotos syndrome are caused by mutations in NSD1.
|
14571271 |
2003 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The results indicate that the great majority of patients with Sotos syndrome are caused by mutations in NSD1.
|
14571271 |
2003 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recently, haploinsufficiency of the NSD1 gene has been identified as the major cause of SoS, with intragenic mutations or submicroscopic microdeletions being found in about 60 to 75% of clinically diagnosed patients with SoS.
|
14631206 |
2003 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Defects of the NSD1 gene account for >or=60% of cases of Sotos syndrome, whereas the disease-causing mechanism of other cases remains unknown.
|
14997421 |
2004 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Haploinsufficiency of the NSD1 gene is a hallmark of Sotos syndrome, and rearrangements of this gene by translocation can cause acute myeloid leukemia.
|
15169884 |
2004 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the NSD1 gene in patients with Sotos syndrome associate with endocrine and paracrine alterations in the IGF system.
|
15362962 |
2004 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In the groups of typical, dubious and atypical Sotos syndrome, 81, 36 and 0% of the patients, respectively, showed NSD1 gene alterations.Four deletions were detected.
|
15452385 |
2004 |
|
Sotos' syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
In the groups of typical, dubious and atypical Sotos syndrome, 81, 36 and 0% of the patients, respectively, showed NSD1 gene alterations.Four deletions were detected.
|
15452385 |
2004 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Ganglioglioma in a Sotos syndrome patient with an NSD1 deletion.
|
15455365 |
2004 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The results also indicated that Sotos syndrome due to a deletion falls into a contiguous gene syndrome, while Sotos syndrome due to an NSD1 point mutation is a single gene defect, occasionally with an autosomal dominant mode of inheritance.
|
15539801 |
2004 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Haploinsufficiency of the NSD1 gene owing to either intragenic mutations or microdeletions is known to be the major cause of SoS.
|
15580547 |
2005 |
|
Sotos' syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
Haploinsufficiency of the NSD1 gene owing to either intragenic mutations or microdeletions is known to be the major cause of SoS.
|
15580547 |
2005 |
|
Sotos' syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
Blast analysis of the Sos genomic region on 5q35 revealed two complex mosaic low-copy repeats (LCRs) that are centromeric and telomeric to NSD1.
|
15640245 |
2005 |
|
Sotos' syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Blast analysis of the Sos genomic region on 5q35 revealed two complex mosaic low-copy repeats (LCRs) that are centromeric and telomeric to NSD1.
|
15640245 |
2005 |
|
Sotos' syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
dHPLC screening of the NSD1 gene identifies nine novel mutations--summary of the first 100 Sotos syndrome mutations.
|
15720303 |
2005 |