GH1 Mutation: A Case Report (original ) (raw )Isolated Growth Hormone Deficiency Type II due to a novel GH1 mutation: A Case Report
Aman Pulungan
Journal of Clinical Research in Pediatric Endocrinology, 2019
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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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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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Isolated Autosomal Dominant Growth Hormone Deficiency: An Evolving Pituitary Deficit? A Multicenter Follow-Up Study
Johnny Deladoëy
The Journal of Clinical Endocrinology & Metabolism, 2005
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Isolated growth hormone deficiency in children with vertically transmitted short stature: What do the genes tell us?
Jan Lebl
Frontiers in Endocrinology, 2023
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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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Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes
Cheri Deal
EBioMedicine, 2018
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Two siblings with isolated GH deficiency due to loss-of-function mutation in the GHRHR gene: successful treatment with growth hormone despite late admission and severe growth retardation
Olcay Evliyaoğlu
Journal of clinical research in pediatric endocrinology, 2010
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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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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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Genetic Analysis of Short Children with Apparent Growth Hormone Insensitivity
JM Wit
Hormone Research in Paediatrics, 2012
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Evolving growth hormone deficiency in children with a subnormal secretion of growth hormone
zvi zadik
The Journal of Pediatrics, 1997
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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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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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Growth hormone deficiency (GHD) and small for gestational age (SGA): genetic alterations
V. Tasic
Prilozi / Makedonska akademija na naukite i umetnostite, Oddelenie za biološki i medicinski nauki = Contributions / Macedonian Academy of Sciences and Arts, Section of Biological and Medical Sciences, 2009
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Consensus Guidelines for the Diagnosis and Treatment of Growth Hormone (GH) Deficiency in Childhood and Adolescence: Summary Statement of the GH Research Society
zvi zadik
The Journal of Clinical Endocrinology and Metabolism, 2000
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Development of additional pituitary hormone deficiencies in pediatric patients originally diagnosed with idiopathic isolated GH deficiency
Werner Blum
European Journal of Endocrinology, 2014
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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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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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Molecular Analysis of the Growth Hormone Gene (GH1) in Isolated Growth Hormone Deficiency
Roberto Tosi
International Journal on Disability and Human Development, 2001
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Short stature and decreased insulin-like growth factor I (IGF-I)/growth hormone (GH)-ratio in an adult GH-deficient patient pointing to additional partial GH insensitivity due to a R179C mutation of the growth hormone receptor
PH Kan
Growth Hormone & IGF Research, 2007
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Heterozygous mutations of growth hormone receptor gene in children with idiopathic short stature
Eugenio Bonioli , Amedeo Citana
Growth Hormone & IGF Research, 2005
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Influence of Growth Hormone (GH) Receptor Deletion of Exon 3 and Full-Length Isoforms on GH Response and Final Height in Patients with Severe GH Deficiency
Marco Janner
The Journal of Clinical Endocrinology & Metabolism, 2008
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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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Growth Hormone (GH) Deficiency (GHD) of Childhood Onset: Reassessment of GH Status and Evaluation of the Predictive Criteria for Permanent GHD in Young Adults
S. Loche , Mohamad Maghnie
The Journal of Clinical Endocrinology & Metabolism, 1999
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Partial growth-hormone insensitivity: The role of growth-hormone receptor mutations in idiopathic short stature
alan Rogol
The Journal of Pediatrics, 1997
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