(Q33957465)

30 July 2017

1 reference

title

SHOX: growth, Léri-Weill and Turner syndromes (English)

1 reference

30 July 2017

Blaschke RJ

1

1 reference

PubMed ID

10878753

30 July 2017

Rappold GA

series ordinal

2

1 reference

30 July 2017

1 August 2000

1 reference

Trends in Endocrinology and Metabolism

30 July 2017

1 reference

30 July 2017

11

1 reference

30 July 2017

6

1 reference

30 July 2017

227-230

1 reference

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

30 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2800%2900262-9

7 January 2021

Localisation of male determining factors in man: a thorough review of structural anomalies of the Y chromosome

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2800%2900262-9

7 January 2021

The human Y chromosome: a 43-interval map based on naturally occurring deletions

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2800%2900262-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2800%2900262-9

7 January 2021

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).

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2800%2900262-9

7 January 2021

FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2800%2900262-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2800%2900262-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2800%2900262-9

7 January 2021

Langer type of mesomelic dwarfism as the possible homozygous expression of dyschondrosteosis

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2800%2900262-9

7 January 2021

Mesomelic dysplasia, type Langer--a homozygous state for dyschondrosteosis

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2800%2900262-9

7 January 2021

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2800%2900262-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2800%2900262-9

7 January 2021

Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2800%2900262-9

7 January 2021

Human haploinsufficiency — one for sorrow, two for joy

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2800%2900262-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2800%2900262-9

7 January 2021

Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2800%2900262-9

7 January 2021

Recommendations for Diagnosis, Treatment, and Management of Individuals with Turner Syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2800%2900262-9

7 January 2021

Chromosomal localisation of a gene(s) for Turner stigmata on Yp.

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2800%2900262-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2800%2900262-9

7 January 2021

Growth hormone therapy of Turner's syndrome: beneficial effect on adult height

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2800%2900262-9

7 January 2021

How many homeobox genes does it take to make a pituitary gland?

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2800%2900262-9

7 January 2021

Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2800%2900262-9

7 January 2021

Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2800%2900262-9

7 January 2021

GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2800%2900262-9

7 January 2021

Point mutations in human GLI3 cause Greig syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2800%2900262-9

7 January 2021

GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2800%2900262-9

7 January 2021

Mutation in GLI3 in postaxial polydactyly type A

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2800%2900262-9

7 January 2021

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2800%2900262-9

7 January 2021

The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2800%2900262-9

7 January 2021

Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2800%2900262-9

7 January 2021

Human homolog of patched, a candidate gene for the basal cell nevus syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2800%2900262-9

7 January 2021

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2800%2900262-9

7 January 2021

10.1016/S1043-2760(00)00262-9

Identifiers

DOI

1 reference

30 July 2017

1 reference

PubMed ID

10878753