Molecular Analysis of the Growth Hormone Gene (GH1) in Isolated Growth Hormone Deficiency (original) (raw)

Characterization of GH-1 Mutations in Children with Isolated Growth Hormone Deficiency in the Turkish Population

E. Cetinkaya

Journal of Pediatric Endocrinology and Metabolism, 2009

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Genetic and molecular analysis of familial isolated growth hormone deficiency

Charles Sultan

Human Genetics, 1993

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Isolated Growth Hormone Deficiency Type IA Associated with a 45-Kilobase Gene Deletion within the Human Growth Hormone Gene Cluster in an Italian Family

Philippe Duquesnoy

Pediatric Research, 1994

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

Edith Schober

Journal of Clinical Endocrinology Amp Metabolism, 1993

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The serum growth hormone (GH) response to provocative tests is dependent on type of assay in autosomal dominant isolated GH deficiency because of an …

Eduardo A Chaler

Clinical …, 2003

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Type IA isolated growth hormone deficiency (IGHD) consistent with compound heterozygous deletions of 6.7 and 7.6 Kb at the GH1 gene locus

Héctor Jasper

Arquivos Brasileiros de Endocrinologia & Metabologia, 2012

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Genetic analysis of familial isolated growth hormone deficiency type I

Leslie Plotnick

Journal of Clinical Investigation, 1982

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The Serum Growth Hormone (GH) Response to Provocative Tests Is Dependent on Type of Assay in Autosomal Dominant Isolated GH Deficiency because of an ARG183HIS (R183H) GH-I Gene Mutation

Alicia Belgorosky, Roxana Marino, Eduardo A Chaler

Clinical Chemistry, 2003

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Variable Phenotypes in Familial Isolated Growth Hormone Deficiency Caused by a G6664A Mutation in the GH-1 Gene

zvi zadik

The Journal of Clinical Endocrinology & Metabolism, 2007

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The association of +1150A polymorphism with low GH level in isolated growth hormone deficiency (IGHD) patients

Hala Bassyouni

Gene Reports, 2019

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A Molecular Basis for Variation in Clinical Severity of Isolated Growth Hormone Deficiency Type II

Saiff Hamid

The Journal of Clinical Endocrinology & Metabolism, 2009

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Heterogeneous phenotypes of Japanese cases with a growth hormone gene deletion

Akira Hata

The Japanese Journal of Human Genetics, 1987

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Prevalence of Human Growth Hormone-1 Gene Deletions among Patients with Isolated Growth Hormone Deficiency from Different Populations

Aysehan Akinci

Pediatric Research, 1992

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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

A. al-Ashwal

Journal of Clinical Endocrinology & Metabolism, 2001

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Different Growth Responses to Recombinant Human Growth Hormone in Three Siblings with Isolated Growth Hormone Deficiency Type IA due to 6.7Kb Deletion of GH1 Gene

RAJKRISHNA BISWAS

Journal of Clinical Research in Pediatric Endocrinology, 2020

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Extensive Phenotypic Analysis of a Family with Growth Hormone (GH) Deficiency Caused by a Mutation in the GH-Releasing Hormone Receptor Gene 1

françoise vitaux

The Journal of Clinical Endocrinology & Metabolism, 1998

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Pathogenic and likely pathogenic genetic alterations and polymorphisms in growth hormone gene ( GH1 ) and growth hormone releasing hormone receptor gene ( GHRHR ) in a cohort of isolated growth hormone deficient (IGHD) children in Sri Lanka

Prof. Kamani Tennekoon

Growth Hormone & IGF Research, 2017

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Characterisation of a functional intronic polymorphism in the human growth hormone (GHI) gene

Nadia Chuzhanova

Human Genomics, 2010

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Identification of novel GHRHR and GH1 mutations in patients with isolated growth hormone deficiency

Shweta Birla

Growth Hormone & IGF Research, 2016

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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

Thomas Hertel

The Journal of Clinical Endocrinology & Metabolism, 2009

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Familial growth hormone deficiency with mutated GHRH receptor gene: clinical and hormonal findings in homozygous and heterozygous individuals from Itabaianinha

Marilza Ezabella, Roberto Salvatori, Neusa Abelin

European Journal of Endocrinology, 2000

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Phenotype-genotype correlations of GH1 gene variants in patients with isolated growth hormone deficiency (IGHD) or multiple pituitary hormone deficiency (MPHD)

Volkan Karaman

Hormone Research in Paediatrics

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Phenotype-Genotype Correlations of GH1 Gene Variants in Patients with Isolated Growth Hormone Deficiency or Multiple Pituitary Hormone Deficiency

Guven Toksoy

Hormone Research in Paediatrics

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

Linda Fryklund, Jeremy Kirk

Human Mutation, 2003

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Combined effect of mutations of the GH1 gene and its proximal promoter region in a child with growth hormone neurosecretory dysfunction (GHND)

Bessie E . Spiliotis

Journal of Molecular Medicine, 2007

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Characterisation of a functional intronic polymorphism in the human growth hormone (GH1) gene

Nadia Chuzhanova

2010

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