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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