(Q36577046)

15 August 2017

1 reference

title

Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders (English)

1 reference

15 August 2017

1

Martin O Savage

1 reference

15 August 2017

5

Adrian J L Clark

1 reference

PubMed ID

16932322

15 August 2017

Cecilia Camacho-Hübner

series ordinal

6

object named as

Cecilia Camacho-Hübner

1 reference

15 August 2017

4

Louise A Metherell

1 reference

15 August 2017

Kenneth M Attie

2

1 reference

PubMed ID

16932322

15 August 2017

Alessia David

series ordinal

3

1 reference

15 August 2017

1 July 2006

1 reference

Nature Clinical Practice Endocrinology and Metabolism

15 August 2017

1 reference

15 August 2017

2

1 reference

15 August 2017

7

1 reference

15 August 2017

395-407

1 reference

Laron syndrome (primary growth hormone resistance or insensitivity): the personal experience 1958-2003

15 August 2017

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Evidence for partial growth hormone insensitivity among patients with idiopathic short stature

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Standard and low-dose IGF-I generation tests and spontaneous growth hormone secretion in children with idiopathic short stature

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Structural design and molecular evolution of a cytokine receptor superfamily

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Model for growth hormone receptor activation based on subunit rotation within a receptor dimer

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Pulsatility of growth hormone (GH) signalling in liver cells: role of the JAK-STAT5b pathway in GH action

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Identification of two novel mutations in the human growth hormone receptor gene

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Heterozygous nonsense mutation in exon 3 of the growth hormone receptor (GHR) in severe GH insensitivity (Laron syndrome) and the issue of the origin and function of the GHRd3 isoform

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Recurrent nonsense mutations in the growth hormone receptor from patients with Laron dwarfism

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

A homozygous nonsense mutation of the human growth hormone receptor gene in a Sardinian boy with Laron-type dwarfism

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

A novel C-terminal growth hormone receptor (GHR) mutation results in impaired GHR-STAT5 but normal STAT-3 signaling

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Mutations of the growth hormone receptor in children with idiopathic short stature. The Growth Hormone Insensitivity Study Group

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Novel mutation involving the translation initiation codon of the growth hormone receptor gene (GHR) in a patient with Laron syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

A Novel Mutation of the Growth Hormone Receptor Gene (GHR) in a Chinese Girl with Laron Syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Laron dwarfism and mutations of the growth hormone-receptor gene

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerization

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Clinical, biochemical and molecular investigations of three Taiwanese children with Laron syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Characterisation of novel missense mutations in the GH receptor gene causing severe growth retardation.

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Heterozygous mutation in the WSXWS equivalaent motif of the growth hormone receptor in a child with poor response to growth hormone therapy

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

The first homozygous mutation (S226I) in the highly-conserved WSXWS-like motif of the GH receptor causing Laron syndrome: supression of GH secretion by GnRH analogue therapy not restored by dihydrotestosterone administration

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Partial growth-hormone insensitivity: the role of growth-hormone receptor mutations in idiopathic short stature

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Partial growth hormone insensitivity--idiopathic short stature is not always idiopathic

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

No correlation of growth hormone receptor gene mutation P561T with body height

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Intronic mutation in the growth hormone (GH) receptor gene from a girl with Laron syndrome and extremely high serum GH binding protein: extended phenotypic study in a very large pedigree

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

A dominant-negative mutation of the growth hormone receptor causes familial short stature

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Primary GH insensitivity '(Laron syndrome) caused by a novel 4 kb deletion encompassing exon 5 of the GH receptor gene: effect of intermittent long-term treatment with recombinant human IGF-I.

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Diverse deletions in the growth hormone receptor gene cause growth hormone insensitivity syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Growth hormone (GH) insensitivity syndrome due to a GH receptor truncated after Box1, resulting in isolated failure of STAT 5 signal transduction.

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Heterozygous mutations of growth hormone receptor gene in children with idiopathic short stature.

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Growth hormone insensitivity associated with a STAT5b mutation

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b.

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Inactivation of the acid labile subunit gene in mice results in mild retardation of postnatal growth despite profound disruptions in the circulating insulin-like growth factor system

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Effect of acute administration of insulin-like growth factor I in patients with Laron-type dwarfism

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Effects of the infusion of insulin-like growth factor I in a child with growth hormone insensitivity syndrome (Laron dwarfism)

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Pharmacokinetics of recombinant human insulin-like growth factor I given subcutaneously to healthy volunteers and to patients with growth hormone receptor deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Effects of insulin-like growth factor on linear growth, head circumference, and body fat in patients with Laron-type dwarfism

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Insulin-like growth factor I improves height in growth hormone insensitivity: two years' results.

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Growth response to rhIGF-I 80 microg/kg twice daily in children with growth hormone insensitivity syndrome: relationship to severity of clinical phenotype

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Dose-dependent effects of recombinant human insulin-like growth factor (IGF)-I/IGF binding protein-3 complex on overnight growth hormone secretion and insulin sensitivity in type 1 diabetes

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Pharmacokinetic studies of recombinant human insulin-like growth factor I (rhIGF-I)/rhIGF-binding protein-3 complex administered to patients with growth hormone insensitivity syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Diagnostic and therapeutic advances in growth hormone insensitivity

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0195

7 January 2021

Identifiers

DOI

10.1038/NCPENDMET0195

1 reference

15 August 2017

1 reference

PubMed ID

16932322