(Q81065610)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18406284%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

title

Lessons from the genetics of laron syndrome (English)

1 reference

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5 January 2020

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Jaime Guevara-Aguirre

series ordinal

2

object named as

J Guevara-Aguirre

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18406284%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

1

A L Rosenbloom

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18406284%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

publication date

1 September 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18406284%20AND%20SRC:MED&resulttype=core&format=json

Trends in Endocrinology and Metabolism

5 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18406284%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

volume

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18406284%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18406284%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

page(s)

276-283

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18406284%20AND%20SRC:MED&resulttype=core&format=json

Laron dwarfism and mutations of the growth hormone-receptor gene

5 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2898%2900070-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2898%2900070-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2898%2900070-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2898%2900070-8

7 January 2021

Absence of the plasma growth hormone-binding protein in Laron-type dwarfism

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2898%2900070-8

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/10.1016%2FS1043-2760%2898%2900070-8

7 January 2021

Growth hormone insensitivity associated with elevated circulating growth hormone-binding protein in children with Alagille syndrome and short stature.

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2898%2900070-8

7 January 2021

Absence of serum growth hormone binding protein in patients with growth hormone receptor deficiency (Laron dwarfism).

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2898%2900070-8

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/10.1016%2FS1043-2760%2898%2900070-8

7 January 2021

Activation of the signal transducers and activators of transcription signaling pathway by growth hormone (GH) in skin fibroblasts from normal and GH binding protein-positive Laron Syndrome children

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2898%2900070-8

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/10.1016%2FS1043-2760%2898%2900070-8

7 January 2021

Growth hormone receptor deficiency (Laron syndrome): clinical and genetic characteristics

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2898%2900070-8

7 January 2021

Growth hormone (GH) insensitivity syndrome with high serum GH-binding protein levels caused by a heterozygous splice site mutation of the GH receptor gene producing a lack of intracellular domain

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2898%2900070-8

7 January 2021

Normal intelligence with severe insulin-like growth factor I deficiency due to growth hormone receptor deficiency: a controlled study in a genetically homogeneous population

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2898%2900070-8

7 January 2021

Classification of growth hormone insensitivity syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2898%2900070-8

7 January 2021

THE XO SYNDROME. A STUDY OF THE DIFFERENTIATED PHENOTYPE IN 25 PATIENTS

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2898%2900070-8

7 January 2021

Growth hormone receptor and serum binding protein: purification, cloning and expression

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2898%2900070-8

7 January 2021

The growth hormone receptor gene mutation of a Japanese patient with Laron syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2898%2900070-8

7 January 2021

Effects of renal failure on the growth hormone-insulin-like growth factor axis

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2898%2900070-8

7 January 2021

Phenotypic Heterogeneity in Familial Isolated Growth Hormone Deficiency Type I-A*

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2898%2900070-8

7 January 2021

Growth in growth hormone insensitivity

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2898%2900070-8

7 January 2021

Severe growth hormone insensitivity (Laron syndrome) due to nonsense mutation of the GH receptor in brothers from Russia

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2898%2900070-8

7 January 2021

Growth hormone insensitivity

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2898%2900070-8

7 January 2021

Stature in Ecuadorians heterozygous for growth hormone receptor gene E180 splice mutation does not differ from that of homozygous normal relatives

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2898%2900070-8

7 January 2021

Facial morphometry of Ecuadorian patients with growth hormone receptor deficiency/Laron syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2898%2900070-8

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/10.1016%2FS1043-2760%2898%2900070-8

7 January 2021

Alternative splicing of exon 3 of the human growth hormone receptor is the result of an unusual genetic polymorphism

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2898%2900070-8

7 January 2021

Brief report: short stature caused by a mutant growth hormone

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2898%2900070-8

7 January 2021

Response to androgen treatment in a patient with partial androgen insensitivity and a mutation in the deoxyribonucleic acid-binding domain of the androgen receptor

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2898%2900070-8

7 January 2021

Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2898%2900070-8

7 January 2021

10.1016/S1043-2760(98)00070-8

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18406284%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

1 reference