Malan overgrowth syndrome
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Malan syndrome in a patient with 19p13.2p13.12 deletion encompassing NFIX and CACNA1A genes: Case report and review of the literature.
|
31574590 |
2019 |
Malan overgrowth syndrome
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Malan syndrome due to shared NFIX variants was diagnosed in the brothers using exome sequencing.
|
31369202 |
2019 |
Malan overgrowth syndrome
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Microdeletions and loss of function variants of NFIX are responsible for Sotos syndrome-2 (also described as Malan syndrome), a syndromic form of intellectual disability associated with overgrowth and macrocephaly.
|
29184170 |
2018 |
Malan overgrowth syndrome
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
We report a 3-year- 6 months- old female with clinical features suggestive of Malan syndrome with mutation in exon 2 of NFIX gene.
|
30548146 |
2018 |
Malan overgrowth syndrome
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Malan syndrome is caused by deletions or point mutations of NFIX clustered mostly in exon 2.
|
29897170 |
2018 |
Malan overgrowth syndrome
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
Malan overgrowth syndrome
|
0.790 |
GermlineCausalMutation
|
disease |
ORPHANET |
We report six additional patients with Malan syndrome and de novo NFIX deletions or sequence variants and review the 20 patients now reported.
|
25118028 |
2015 |
Malan overgrowth syndrome
|
0.790 |
Biomarker
|
disease |
BEFREE |
We then propose to consider this overgrowth syndrome (namely Malan syndrome) and Marshall-Smith syndrome NFIX-related diseases.
|
26193383 |
2015 |
Malan overgrowth syndrome
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
We report six additional patients with Malan syndrome and de novo NFIX deletions or sequence variants and review the 20 patients now reported.
|
25118028 |
2015 |
Malan overgrowth syndrome
|
0.790 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We report six additional patients with Malan syndrome and de novo NFIX deletions or sequence variants and review the 20 patients now reported.
|
25118028 |
2015 |
Malan overgrowth syndrome
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
We identified three female patients with 19p13.2 deletions involving NFIX, a gene responsible for Malan syndrome.
|
25736188 |
2015 |
Malan overgrowth syndrome
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.
|
26200704 |
2015 |
Malan overgrowth syndrome
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
We report six additional patients with Malan syndrome and de novo NFIX deletions or sequence variants and review the 20 patients now reported.
|
25118028 |
2015 |
Malan overgrowth syndrome
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
We then propose to consider this overgrowth syndrome (namely Malan syndrome) and Marshall-Smith syndrome NFIX-related diseases.
|
26193383 |
2015 |
Malan overgrowth syndrome
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Recently, heterozygous mutations in the NFIX gene (Nuclear Factor I, X type) on chromosome 19p13.3 were identified in a few children with the Sotos syndrome phenotype: Sotos syndrome 2.
|
25345081 |
2014 |
Malan overgrowth syndrome
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
DIAMUND: direct comparison of genomes to detect mutations.
|
24375697 |
2014 |
Malan overgrowth syndrome
|
0.790 |
GermlineCausalMutation
|
disease |
ORPHANET |
Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.
|
22301465 |
2012 |
Malan overgrowth syndrome
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.
|
22301465 |
2012 |
Malan overgrowth syndrome
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.
|
20673863 |
2010 |
Malan overgrowth syndrome
|
0.790 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.
|
20673863 |
2010 |
Malan overgrowth syndrome
|
0.790 |
GermlineCausalMutation
|
disease |
ORPHANET |
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.
|
20673863 |
2010 |
Malan overgrowth syndrome
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.
|
20673863 |
2010 |
Malan overgrowth syndrome
|
0.790 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Marshall-Smith syndrome
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Malan syndrome and Marshall-Smith syndrome (MSS) are allelic disorders caused by mutation in NFIX gene.
|
30548146 |
2018 |
Marshall-Smith syndrome
|
0.740 |
GeneticVariation
|
disease |
CLINVAR |
Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.
|
26200704 |
2015 |