(Q37390667)

20 August 2017

X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions (English)

1 reference

growth hormone deficiency

20 August 2017

1 reference

based on heuristic

inferred from title

isolated growth hormone deficiency

1 reference

9

1 reference

20 August 2017

Emma M M Burkitt Wright

1

1 reference

20 August 2017

Rahat Perveen

2

1 reference

20 August 2017

Peter E Clayton

3

1 reference

20 August 2017

Catherine M Hall

4

1 reference

20 August 2017

Teresa Costa

5

1 reference

20 August 2017

Annie M Procter

6

1 reference

20 August 2017

Carol A Giblin

7

1 reference

20 August 2017

Dian Donnai

8

1 reference

20 August 2017

1 October 2009

1 reference

20 August 2017

Clinical Dysmorphology

1 reference

20 August 2017

18

1 reference

20 August 2017

4

1 reference

20 August 2017

218-221

1 reference

Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter?

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2763399

Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2763399

FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2763399

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2763399

A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2763399

A comparison of the properties of Sox-3 with Sry and two related genes, Sox-1 and Sox-2

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2763399

Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2763399

Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2763399

Variable phenotypes in familial isolated growth hormone deficiency caused by a G6664A mutation in the GH-1 gene.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2763399

Magnetic resonance imaging of the hypothalamic-pituitary axis in the diagnosis of growth hormone deficiency.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2763399

Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2763399

Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2763399

Molecular analysis of X-linked agammaglobulinemia with growth hormone deficiency

3 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19654509

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Increased gene dosage at Xq26-q27 is associated with X-linked hypopituitarism

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19654509

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1097/MCD.0B013E32832D06F0

1 reference

20 August 2017

1 reference

20 August 2017

PubMed publication ID

19654509

1 reference