SHOX gene in Leri-Weill syndrome and in idiopathic short stature (Q28206413)

Europe PubMed Central

title

SHOX gene in Leri-Weill syndrome and in idiopathic short stature (English)

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S Bernasconi

1

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S Mariani

2

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C Falcinelli

3

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S Milioli

4

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L Iughetti

5

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A Forabosco

Journal of Endocrinological Investigation

6

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language of work or name

English

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publication date

October 2001

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published in

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volume

24

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issue

9

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page(s)

737-41

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cites work

Sex chromosome aberrations and stature: deduction of the principal factors involved in the determination of adult height

1 reference

https://api.crossref.org/works/10.1007%2FBF03343919

Turner syndrome: spontaneous growth in 150 cases and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03343919

Males with an XYY sex chromosome complement

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03343919

A SYNDROME OF INFANTILISM, CONGENITAL WEBBED NECK, AND CUBITUS VALGUS1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03343919

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03343919

The pseudoautosomal regions of the human sex chromosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03343919

The role of Yp in sex determination: new evidence from X/Y translocations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03343919

Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03343919

Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03343919

A high resolution deletion map of human chromosome Xp22.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03343919

Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03343919

The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03343919

Otitis media and hearing loss in Turner syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03343919

SHOX: pseudoautosomal homeobox containing gene for short stature and dyschondrosteosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03343919

A decade of growth hormone treatment in girls with Turner syndrome in the UK. UK KIGS Executive Group

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03343919

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03343919

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03343919

Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03343919

Human haploinsufficiency — one for sorrow, two for joy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03343919

Classic pages in obstetrics and gynecology by Henry H. Turner. A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology, vol. 23, pp. 566-574, 1938

21 January 2018

1 reference

12 December 2020

Sex-influenced expression of Madelung's deformity in a family of dyschondrosteosis

1 reference

12 December 2020

Mesomelic Dwarfism as the Homozygous Expression of Dyschondrosteosis

1 reference

12 December 2020

SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome

1 reference

12 December 2020

Final height of patients with Turner's syndrome treated with growth hormone (GH): indications for GH therapy alone at high doses and late estrogen therapy. Italian Study Group for Turner Syndrome

1 reference

12 December 2020

Turner syndrome and its variants

1 reference

12 December 2020

Short stature in a girl with a terminal Xp deletion distal to DXYS15: localisation of a growth gene(s) in the pseudoautosomal region

1 reference

12 December 2020

47,XXX: what is the prognosis?

1 reference

12 December 2020

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

1 reference

12 December 2020

Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome

1 reference

12 December 2020

Craniofacial morphology in young patients with Turner syndrome

1 reference

12 December 2020

Klinefelter's syndrome in adolescence.

1 reference

12 December 2020