(Q37964618)

26 August 2017

title

Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD). (English)

1 reference

growth hormone deficiency

26 August 2017

main subject

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isolated growth hormone deficiency

inferred from title

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1 reference

Kyriaki S Alatzoglou

1

1 reference

26 August 2017

Mehul T Dattani

series ordinal

2

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26 August 2017

publication date

3 December 2011

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Indian Journal of Pediatrics

26 August 2017

published in

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26 August 2017

volume

79

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26 August 2017

issue

1

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26 August 2017

page(s)

99-106

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https://scigraph.springernature.com/pub.10.1007/s12098-011-0614-7

26 August 2017

exact match

0 references

cites work

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Genetic causes and treatment of isolated growth hormone deficiency-an update

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Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency.

21 January 2018

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Isolated autosomal dominant growth hormone deficiency: an evolving pituitary deficit? A multicenter follow-up study.

21 January 2018

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Evolution of gonadotropin deficiency in a patient with type II autosomal dominant GH deficiency

21 January 2018

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A recurring dominant negative mutation causes autosomal dominant growth hormone deficiency--a clinical research center study

21 January 2018

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Growth hormone (GH) deficiency type II: a novel GH-1 gene mutation (GH-R178H) affecting secretion and action

21 January 2018

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Isolated GH deficiency with dominant inheritance: new mutations, new insights

21 January 2018

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Autosomal dominant growth hormone (GH) deficiency type II: the Del32-71-GH deletion mutant suppresses secretion of wild-type GH.

21 January 2018

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Autosomal dominant growth hormone deficiency disrupts secretory vesicles in vitro and in vivo in transgenic mice.

21 January 2018

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Isolated autosomal dominant growth hormone deficiency: stimulating mutant GH-1 gene expression drives GH-1 splice-site selection, cell proliferation, and apoptosis

21 January 2018

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Exon splice enhancer mutation (GH-E32A) causes autosomal dominant growth hormone deficiency.

21 January 2018

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Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function

21 January 2018

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GH1 splicing is regulated by multiple enhancers whose mutation produces a dominant-negative GH isoform that can be degraded by allele-specific small interfering RNA (siRNA).

21 January 2018

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Prolonged retention after aggregation into secretory granules of human R183H-growth hormone (GH), a mutant that causes autosomal dominant GH deficiency type II.

21 January 2018

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Variability of isolated autosomal dominant GH deficiency (IGHD II): impact of the P89L GH mutation on clinical follow-up and GH secretion

21 January 2018

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Isolated GH deficiency (IGHD) type II: imaging of the pituitary gland by magnetic resonance reveals characteristic differences in comparison with severe IGHD of unknown origin

21 January 2018

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

21 January 2018

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A molecular basis for variation in clinical severity of isolated growth hormone deficiency type II.

21 January 2018

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Rescue of pituitary function in a mouse model of isolated growth hormone deficiency type II by RNA interference

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

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Phenotype and genetic analysis of a syndrome caused by an inactivating mutation in the growth hormone-releasing hormone receptor: Dwarfism of Sindh

21 January 2018

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Variability in anterior pituitary size within members of a family with GH deficiency due to a new splice mutation in the GHRH receptor gene.

21 January 2018

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A new missense mutation in the growth hormone-releasing hormone receptor gene in familial isolated GH deficiency.

21 January 2018

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A nonsense mutation (E72X) in growth hormone releasing hormone receptor (GHRHR) gene is the major cause of familial isolated growth hormone deficiency in Western region of India: founder effect suggested by analysis of dinucleotide repeat polymorphi

21 January 2018

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Identification of a novel splicing mutation in the growth hormone (GH)-releasing hormone receptor gene in a Chinese family with pituitary dwarfism

21 January 2018

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Unusual phenotypic features in a patient with a novel splice mutation in the GHRHR gene

21 January 2018

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X-linked hypogammaglobulinemia and isolated growth hormone deficiency: an update

21 January 2018

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Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Increased transactivation associated with SOX3 polyalanine tract deletion in a patient with hypopituitarism.

21 January 2018

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Phenotypic Variability in Familial Combined Pituitary Hormone Deficiency Caused by a PROP1 Gene Mutation Resulting in the Substitution of Arg->Cys at Codon 120 (R120C)

21 January 2018

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Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.

21 January 2018

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Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond

21 January 2018

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

21 January 2018

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HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism

21 January 2018

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Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia.

21 January 2018

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OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters.

21 January 2018

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A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency

21 January 2018

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OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12098-011-0614-7

A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency

21 January 2018

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Three New Mutations in the Gene for the Growth Hormone (GH)-Releasing Hormone Receptor in Familial Isolated GH Deficiency Type IB

21 January 2018

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21 January 2018

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https://api.crossref.org/works/10.1007%2FS12098-011-0614-7

Complex disease phenotype revealed by GH deficiency associated with a novel and unusual defect in the GH-1 gene

21 January 2018

1 reference

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Three new mutations in the gene for the growth hormone (gh)-releasing hormone receptor in familial isolated gh deficiency type ib.

21 January 2018

1 reference

12 December 2020

Prevalence of human GH-1 gene alterations in patients with isolated growth hormone deficiency

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12 December 2020

Growth hormone releasing hormone receptor (GHRH-r) gene mutation in Indian children with familial isolated growth hormone deficiency: a study from western India.

1 reference

12 December 2020

Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II

1 reference

12 December 2020

Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency

1 reference

12 December 2020

An exon splice enhancer mutation causes autosomal dominant GH deficiency

1 reference

12 December 2020

A novel mechanism of aberrant pre-mRNA splicing in humans

1 reference

12 December 2020

Heterogeneous growth hormone (GH) gene mutations in familial GH deficiency

1 reference

12 December 2020

Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C)

1 reference

12 December 2020

Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype

1 reference

12 December 2020

Familial growth hormone deficiency: a model of dominant and recessive mutations affecting a monomeric protein

1 reference

12 December 2020

Screening for growth hormone (GH) gene splice-site mutations in sporadic cases with severe isolated GH deficiency using ectopic transcript analysis

1 reference

12 December 2020

Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans

1 reference

12 December 2020

10.1007/S12098-011-0614-7

Identifiers

DOI

1 reference

release_xomkk44l3rhrphwrf2sloj3p4a

26 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/xomkk44l3rhrphwrf2sloj3p4a

24 November 2022

mapped directly with Wikidata item

1 reference