Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay (Q28273020)

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21 December 2019

title

Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay (English)

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21 December 2019

1

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21 December 2019

Liborio Stuppia

9

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21 December 2019

2

Ivana Antonucci

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21 December 2019

author name string

Elisena Morizio

3

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21 December 2019

Chiara Palka

4

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21 December 2019

Rita Fischetto

5

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21 December 2019

Vahe Mokini

6

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21 December 2019

Stefano Tumini

7

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21 December 2019

Giuseppe Calabrese

8

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21 December 2019

language of work or name

English

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publication date

8 November 2006

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Journal of Human Genetics

21 December 2019

published in

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21 December 2019

volume

52

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21 December 2019

issue

1

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21 December 2019

page(s)

21-27

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https://scigraph.springernature.com/pub.10.1007/s10038-006-0074-5

21 December 2019

exact match

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cites work

Quantitative real-time polymerase chain reaction (RQ-PCR) for the rapid detection of SHOX haploinsufficiency in Leri-Weill Syndrome.

1 reference

12 December 2020

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

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12 December 2020

Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature

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12 December 2020

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

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12 December 2020

Short stature in a mother and daughter caused by familial der(X)t(X;X)(p22.1-3;q26).

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12 December 2020

MLPA and MAPH: new techniques for detection of gene deletions

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12 December 2020

Phenotypes Associated with SHOX Deficiency

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12 December 2020

X/Y translocation in a family with Leri-Weill dyschondrosteosis

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12 December 2020

The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator

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12 December 2020

Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood

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12 December 2020

Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method

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12 December 2020

Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome)

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12 December 2020

Translocation (Y;22) resulting in the loss of SHOX and isolated short stature.

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12 December 2020

SHOX mutations detected by FISH and direct sequencing in patients with short stature

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12 December 2020

Identification of short stature caused by SHOX defects and therapeutic effect of recombinant human growth hormone

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12 December 2020

A second recombination hotspot associated with SHOX deletions

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12 December 2020

SHOX point mutations and deletions in Leri-Weill dyschondrosteosis

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12 December 2020

PHOG, a candidate gene for involvement in the short stature of Turner syndrome

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12 December 2020

Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis

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12 December 2020

Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots

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12 December 2020

Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method

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12 December 2020

Identification of a major recombination hotspot in patients with short stature and SHOX deficiency

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12 December 2020

Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer

1 reference

12 December 2020

Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis.

1 reference

12 December 2020

An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits

1 reference

12 December 2020

Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA)

1 reference

12 December 2020

Deletion of the SHOX gene in patients with short stature of unknown cause

1 reference

12 December 2020

Subterminal deletion/duplication event in an affected male due to maternal X chromosome pericentric inversion

1 reference

12 December 2020

Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature

1 reference

12 December 2020

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

1 reference

12 December 2020

The pseudoautosomal regions, SHOX and disease

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12 December 2020

An active ring X and haploinsufficiency of SHOX contribute to short stature, congenital anomalies, and developmental delay in a female.

1 reference

12 December 2020