|
Dwarfism
|
0.200 |
PosttranslationalModification
|
disease |
BEFREE |
DNA Methylation Status of SHOX-Flanking CpG Islands in Healthy Individuals and Short Stature Patients with Pseudoautosomal Copy Number Variations.
|
31158835 |
2019 |
|
Dwarfism
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
One of the most common causes of short stature is a defect of the short stature homeobox-containing (SHOX) gene, which is located in pseudoautosomal region 1 on the distal end of the short arm of chromosomes Xp22.33 and Yp11.32.
|
30529377 |
2019 |
|
Dwarfism
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The duplicated region on 15q25.2 region is likely to contain dosage-sensitive genes responsible for some of the clinical features observed in this patient, whereas the extreme short stature and the skeletal anomalies are likely attributable to the comorbidity of GHD and copy number variants in the SHOX region.
|
30626445 |
2019 |
|
Dwarfism
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
SHOX gene deletion screening by FISH in children with short stature and Madelung deformity and their characteristics.
|
30332396 |
2018 |
|
Dwarfism
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The genetic and functional data reported here indicate that CYP26C1 represents a novel gene underlying growth disorders and that damaging variants in the absence of SHOX variants can lead to short stature.
|
29706635 |
2018 |
|
Dwarfism
|
0.200 |
Biomarker
|
disease |
BEFREE |
The clinical findings indicating SHOX haploinsufficiency among the nine children were disproportionate short stature and forearm anomalies.
|
27814343 |
2017 |
|
Dwarfism
|
0.200 |
Biomarker
|
disease |
BEFREE |
Duplications of Yq arm (and AZF) seems to be tolerated by fertile males, while mutations, deletions, duplications or haploinsufficiency of SHOX can originate a wide range of phenotypes, including short stature and skeletal abnormalities.
|
29019057 |
2017 |
|
Dwarfism
|
0.200 |
Biomarker
|
disease |
BEFREE |
Comparison of SHOX and associated elements duplications distribution between patients (Lėri-Weill dyschondrosteosis/idiopathic short stature) and population sample.
|
28629824 |
2017 |
|
Dwarfism
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Recently, two SHOX conserved non-coding element duplications, one upstream and one downstream, were reported in patients referred with idiopathic short stature.
|
26698168 |
2016 |
|
Dwarfism
|
0.200 |
Biomarker
|
disease |
BEFREE |
Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.
|
26984564 |
2016 |
|
Dwarfism
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Terminal Xp deletion leads to SHOX haploinsufficiency, and when it exceeds Xp22.33 it causes a variant of Turner syndrome (TS) in which gonadal function is preserved and short stature constitutes the major clinical feature.
|
27459301 |
2016 |
|
Dwarfism
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Caused by mutations in the homeobox gene SHOX, its varied clinical manifestations include isolated short stature, Léri-Weill dyschondrosteosis, and Langer mesomelic dysplasia.
|
27355317 |
2016 |
|
Dwarfism
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The obtained results confirm the opinion that the MLPA method, while enabling the diagnostics of the etiopathogenetic factor of short stature, identified in approximately 9.5% of cases, is a useful tool in the diagnostics of SHOX gene deletion and duplication.(Endokrynol Pol 2016; 67 (4): 397-402).
|
27387244 |
2016 |
|
Dwarfism
|
0.200 |
Biomarker
|
disease |
BEFREE |
NPR2 mutations account for approximately 3% of patients with disproportionate short stature and/or clinical or radiographic indicators of SHOX deficiency and in whom no SHOX defect has been identified.
|
26075495 |
2015 |
|
Dwarfism
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature.
|
26040210 |
2015 |
|
Dwarfism
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Haploinsufficiency of short stature homeobox-containing gene is primarily responsible for the short stature.
|
24698150 |
2015 |
|
Dwarfism
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Our results imply that deletion carriers have no augmented risk of SHOX-related pathologies (short stature and skeletal anomalies) and indicate that there is no need for radical changes in genetic counseling of Yq microdeletion carriers attempting ART, since the only risk established so far for their male offspring remains impaired spermatogenesis.
|
24008148 |
2013 |
|
Dwarfism
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A novel intronic mutation in SHOX causes short stature by disrupting a splice acceptor site: direct demonstration of aberrant splicing by expression of a minigene in HEK-293T cells.
|
23426818 |
2012 |
|
Dwarfism
|
0.200 |
Biomarker
|
disease |
BEFREE |
The SHOX gene and the short stature. Roundtable on diagnosis and treatment of short stature due to SHOX haploinsufficiency: how genetics, radiology and anthropometry can help the pediatrician in the diagnostic process Padova (April 20th, 2011).
|
23304810 |
2012 |
|
Dwarfism
|
0.200 |
Biomarker
|
disease |
BEFREE |
Defects in SHOX or its enhancers have been observed in ∼60% of Leri-Weill dyschondrosteosis (LWD) patients, a skeletal dysplasia characterised by short stature and/or the characteristic Madelung deformity, and in 2-5% of idiopathic short stature (ISS).
|
22791839 |
2012 |
|
Dwarfism
|
0.200 |
Biomarker
|
disease |
BEFREE |
SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis.
|
22020182 |
2012 |
|
Dwarfism
|
0.200 |
Biomarker
|
disease |
BEFREE |
SHOX analysis was performed centrally as part of the Genetics and Neuroendocrinology of Short Stature International Study observational study.
|
22518848 |
2012 |
|
Dwarfism
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the short stature homeobox-containing (SHOX) gene on the pseudoautosomal region of the sex chromosomes cause short stature.
|
23208451 |
2012 |
|
Dwarfism
|
0.200 |
Biomarker
|
disease |
BEFREE |
SHOX haploinsufficiency causes a wide spectrum of short stature phenotypes, such as Leri-Weill dyschondrosteosis (LWD) and disproportionate short stature (DSS).
|
20538086 |
2011 |
|
Dwarfism
|
0.200 |
Biomarker
|
disease |
BEFREE |
SHOX haploinsufficiency has been demonstrated in Leri-Weill dyschondrosteosis (LWD), a skeletal dysplasia associated with disproportionate short stature, as well as in a variable proportion of cases with idiopathic short stature (ISS).
|
21262861 |
2011 |