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Abbreviation : IGHD
Long Form : isolated GH deficiency
No. Year Title Co-occurring Abbreviation
2019 Biological Significance of Anti-GH Antibodies in Children Treated with rhGH. rhGH
2019 Walking and postural balance in adults with severe short stature due to isolated GH deficiency. ---
2018 Genetic Mutations in the GH/IGF Axis. CPHD, NGS
2018 Immunological and microbiological periodontal profiles in isolated growth hormone deficiency. AL, ELISA, GCF, GH, GHRH-R, IL, MMP, PD, qPCR, TNF
2018 Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism. smMIPS
2018 Occurrence of neoplasms in individuals with congenital, severe GH deficiency from the Itabaianinha kindred. GH, GHRT, IGF-I
2018 Response to growth hormone treatment in very young patients with growth hormone deficiencies and mini-puberty. GH, GHD, MPHD, SDS
2017 MECHANISMS IN ENDOCRINOLOGY: The multiple facets of GHRH/GH/IGF-I axis: lessons from lifetime, untreated, isolated GH deficiency due to a GHRH receptor gene mutation. ---
2017 Ocular findings in adult subjects with an inactivating mutation in GH releasing hormone receptor gene. ACD, AL, CC, CCT, GH, IGF-I, LT, VD
10  2017 Pituitary imaging in 129 children with growth hormone deficiency: A spectrum of findings. GH, KKUH, MPHD, MRI
11  2016 A homozygous point mutation in the GH1 promoter (c.-223C>T) leads to reduced GH1 expression in siblings with isolated GH deficiency (IGHD). AV
12  2016 Abnormal vascular and neural retinal morphology in congenital lifetime isolated growth hormone deficiency. cIGHD
13  2016 Mortality Is Not Increased in Recombinant Human Growth Hormone-treated Patients When Adjusting for Birth Characteristics. ISS, rhGH, SGA, SMR
14  2016 Rescue of Isolated GH Deficiency Type II (IGHD II) via Pharmacologic Modulation of GH-1 Splicing. GHRH-R, IGHD II, wt-hGH
15  2016 Two novel heterozygous missense variations within the GLI2 gene in two unrelated Argentine patients. MPHD
16  2015 Early retesting by GHRH+arginine test shows normal GH response in most children with idiopathic GH deficiency. ---
17  2015 Frequent development of combined pituitary hormone deficiency in patients initially diagnosed as isolated growth hormone deficiency: a long term follow-up of patients from a single center. CPHD
18  2015 Heterozygous defects in PAX6 gene and congenital hypopituitarism. CH, CNVs
19  2014 Development of additional pituitary hormone deficiencies in pediatric patients originally diagnosed with idiopathic isolated GH deficiency. ---
20  2014 Effect of long-term GH replacement therapy on cardiovascular outcomes in isolated GH deficiency compared with multiple pituitary hormone deficiencies: a sub-analysis from the Dutch National Registry of Growth Hormone Treatment in Adults. MPHDs
21  2014 Hearing status in adult individuals with lifetime, untreated isolated growth hormone deficiency. ABRs, GH, TEOAEs
22  2014 Liver status in congenital, untreated, isolated GH deficiency. ALT, COs, IS, NAFLD
23  2013 Isolated GH deficiency due to a GHRH receptor mutation causes hip joint problems and genu valgum, and reduces size but not density of trabecular and mixed bone. BMD, CO, JSN, OP, vBMD
24  2013 Lifetime congenital isolated GH deficiency does not protect from the development of diabetes. betaCF, DM, HOMA-IR, IGT, IS, MUT/N, OGTT
25  2013 Prolactin and sex steroids levels in congenital lifetime isolated GH deficiency. GH, GHRHR, N/N, SHBG
26  2013 Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly. CPHD
27  2012 A novel GH1 mutation in a family with isolated growth hormone deficiency type II. MRI, rhGH
28  2012 A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve. CPHD
29  2012 Arrest of atherosclerosis progression after interruption of GH replacement in adults with congenital isolated GH deficiency. AO-GHD, GHRHR, GHRT, IMT, LVMI
30  2012 GH-releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects. GHRH-R
31  2012 Isolated GHD: investigation and implication of JAK/STAT related genes before and after rhGH treatment. ---
32  2012 The consequences of growth hormone-releasing hormone receptor haploinsufficiency for bone quality and insulin resistance. GH, GHRH-R, IGF, MUT/N, OC, QUS
33  2011 A novel frame shift mutation in the GHRH receptor gene in familial isolated GH deficiency: early occurrence of anterior pituitary hypoplasia. APH, GHRH-R, MRI
34  2011 Absence of GH-releasing hormone (GHRH) mutations in selected patients with isolated GH deficiency. GHRH, GHRH-R
35  2011 Identification and functional analysis of novel human growth hormone-releasing hormone receptor (GHRHR) gene mutations in Japanese subjects with short stature. GHRH-R, ISS
36  2011 Isolated GH deficiency: mutation screening and copy number analysis of HMGA2 and CDK6 genes. CDK6, HMGA2
37  2010 Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly. HPE
38  2009 Congenital hypopituitarism: clinical, molecular and neuroradiological correlates. CI, CPHD, HP, MR, ONH, OR, SOD
39  2009 Consequences of lifetime isolated growth hormone (GH) deficiency and effects of short-term GH treatment on bone in adults with a mutation in the GHRH-receptor gene. CO, GH, GHRH, OC, QUS
40  2009 Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency. ---
41  2009 From isolated GH deficiency to multiple pituitary hormone deficiency: an evolving continuum - a KIMS analysis. AO, MPHD
42  2009 Genetic screening of a Dutch population with isolated GH deficiency (IGHD). DHPLC, GHRH-R
43  2009 Likelihood of persistent GH deficiency into late adolescence: relationship to the presence of an ectopic or normally sited posterior pituitary gland. CI, EPP, NPP
44  2009 Mutation analysis of the muscarinic cholinergic receptor genes in isolated growth hormone deficiency type IB. GHRH-R, mAChR
45  2009 Quality of life in congenital, untreated, lifetime isolated growth hormone deficiency. GH, QOL, TSQoL
46  2008 A functional common polymorphism in the vitamin D-responsive element of the GH1 promoter contributes to isolated growth hormone deficiency. ---
47  2008 Isolated growth hormone deficiency: clinical entity? ---
48  2008 Sizes of abdominal organs in adults with severe short stature due to severe, untreated, congenital GH deficiency caused by a homozygous mutation in the GHRH receptor gene. BSA, GHRH-R, GHRHR
49  2007 Foot length before and during insulin-like growth factor-I treatment of children with laron syndrome compared to human growth hormone treatment of children with isolated growth hormone deficiency. GH, IGF-I, LS
50  2007 Heterozygosity for a mutation in the growth hormone-releasing hormone receptor gene does not influence adult stature, but affects body composition. GHRH-R
51  2007 Hormonal, pituitary magnetic resonance, LHX4 and HESX1 evaluation in patients with hypopituitarism and ectopic posterior pituitary lobe. CPHD, EPL, MRI, NPS, PCR, VPS
52  2007 Long-term effects of growth hormone (GH) on bone mineral status and bone turnover markers in patients with isolated GH deficiency and multiple pituitary hormone deficiency. BMD, Bone ALP, CPP-I, GH, MPHD, SDS
53  2006 A new mutation in the growth hormone-releasing hormone receptor gene in two Israeli Arab families. CHO, GHRHR
54  2006 Adult height in patients with permanent growth hormone deficiency with and without multiple pituitary hormone deficiencies. GHD, MPHDs, SDS
55  2006 Autosomal-dominant isolated growth hormone deficiency (IGHD type II) with normal GH-1 gene. GH-1
56  2006 The growth response to growth hormone (GH) treatment in children with isolated GH deficiency is independent of the presence of the exon 3-minus isoform of the GH receptor. GH, GHR
57  2005 Adult height in patients treated for isolated growth hormone deficiency: role of birth weight. AH, BMI SDS, GA, GH, THSDS
58  2005 The role of growth hormone in determining birth size and early postnatal growth, using congenital growth hormone deficiency (GHD) as a model. CGHD, CPHD, GHD, SDS
59  2005 Variability of isolated autosomal dominant GH deficiency (IGHD II): impact of the P89L GH mutation on clinical follow-up and GH secretion. IGHD II
60  2004 A mouse with targeted ablation of the growth hormone-releasing hormone gene: a new model of isolated growth hormone deficiency. ---
61  2004 Bone status and fracture prevalence in Russian adults with childhood-onset growth hormone deficiency. BMC, BMD, CO-GHD, MPHD
62  2004 Familial Growth Hormone Deficiency and Mutations in the GHRH Receptor Gene. GH, GHRH-R, GHRHR
63  2004 Genetic defects in GH synthesis and secretion. CPHD, GH
64  2004 Phenotypic analysis and growth response to different growth hormone treatment schedules in two siblings with an inactivating mutation in the growth hormone-releasing hormone receptor gene. GHRH-R, GnRH, hGH
65  2004 Primary GH insensitivity '(Laron syndrome) caused by a novel 4 kb deletion encompassing exon 5 of the GH receptor gene: effect of intermittent long-term treatment with recombinant human IGF-I. GHIS, GHR, SDS
66  2004 Variability in anterior pituitary size within members of a family with GH deficiency due to a new splice mutation in the GHRH receptor gene. APH, GHRH-R, MRI
67  2003 A new missense mutation in the growth hormone-releasing hormone receptor gene in familial isolated GH deficiency. cAMP, GHRH
68  2003 A novel IVS2 -2A>T splicing mutation in the GH-1 gene in familial isolated growth hormone deficiency type II in the spectrum of other splicing mutations in the Russian population. IGHD II
69  2003 Magnetic resonance imaging study of pituitary morphology in subjects homozygous and heterozygous for a null mutation of the GHRH receptor gene. APH, GHRH-R, MRI
70  2002 An exonic mutation of the GH-1 gene causing familial isolated growth hormone deficiency type II. GH
71  2002 Detection of a recurring mutation in the human growth hormone-releasing hormone receptor gene. GHRH-R
72  2002 Effects of growth hormone and insulin-like growth factor 1 deficiency on ageing and longevity. GH, MPHD
73  2002 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. MRI, SDS
74  2002 Molecular and cellular basis of isolated dominant-negative growth hormone deficiency, IGHD type II: insights on the secretory pathway of peptide hormones. ---
75  2002 Normal progression of testicular size in boys with idiopathic short stature and isolated growth hormone deficiency treated with growth hormone: experience from the KIGS. GH, ISS
76  2002 Serum GH response to pharmacological stimuli and physical exercise in two siblings with two new inactivating mutations in the GH-releasing hormone receptor gene. GHRH-R, MRI, PE
77  2001 A novel and de novo splice-donor site mutation in intron 3 of the GH-1 gene in a patient with isolated growth hormone deficiency. GH
78  2001 Isolated growth hormone (GH) deficiency due to compound heterozygosity for two new mutations in the GH-releasing hormone receptor gene. GH, GHRH-R
79  2001 Three new mutations in the gene for the growth hormone (gh)-releasing hormone receptor in familial isolated gh deficiency type ib. GH, GHRH-R
80  2000 Long-term follow-up evaluation of magnetic resonance imaging in the prognosis of permanent GH deficiency. GHD, MPHD, MRI, PPE, PSA
81  1999 Influences on quality of life in GH deficient adults and their effect on response to treatment. AGHDA, AO, CO, GHD, PGWB, QOL
82  1999 Inhibition of growth hormone (GH) secretion by a mutant GH-I gene product in neuroendocrine cells containing secretory granules: an implication for isolated GH deficiency inherited in an autosomal dominant manner. GH
83  1999 Mutations in intron 3 of GH-1 gene associated with isolated GH deficiency type II in three Japanese families. PCR
84  1997 Molecular diagnosis and endocrine evaluation of a patient with a homozygous 7.0 kb deletion of the growth hormone (GH) gene cluster: response to biosynthetic GH therapy. GH, GHBP, PCR
85  1996 Dynamic MRI in the congenital agenesis of the neural pituitary stalk syndrome: the role of the vascular pituitary stalk in predicting residual anterior pituitary function. Gd-DTPA, MPHD, MRI
86  1996 Growth hormone response to growth hormone-releasing hormone varies with the hypothalamic-pituitary abnormalities. GH, IGF-I, MPHD, MRI
87  1995 Acute and chronic effects of human recombinant GH (hrGH) on adrenal steroidogenesis in children affected with isolated GH deficiency (IGHD). hrGH
88  1995 Screening for growth hormone (GH) gene splice-site mutations in sporadic cases with severe isolated GH deficiency using ectopic transcript analysis. GH, RNA
89  1994 Comparative effects of GH, IGF-I and insulin on serum sex hormone binding globulin. CSS, IGF-I, LS, SHBG
90  1994 Exclusion of growth hormone (GH)-releasing hormone gene mutations in familial isolated GH deficiency by linkage and single strand conformation analysis. GH, GHRH, LOD
91  1994 Familial growth hormone deficiency: a model of dominant and recessive mutations affecting a monomeric protein. ---
92  1994 Molecular basis of familial growth hormone deficiency. PD
93  1993 Heterogeneous growth hormone (GH) gene mutations in familial GH deficiency. GH, PCR
94  1993 Up-regulation of insulin-like growth factor-I (IGF-I) receptor gene expression in patients with reduced serum IGF-I levels. IGF-I, LTD
95  1992 Body composition in adult growth hormone-deficient men, assessed by anthropometry and bioimpedance analysis. BIA, GHD, LBM, MPHD
96  1992 Further evaluation of IGF-I responsiveness to ACTH in children affected with IGHD. rGH
97  1992 Hypothalamo-pituitary axis by magnetic resonance imaging in isolated growth hormone deficiency patients born by normal delivery. ---
98  1990 Evidence of morphological and functional abnormalities in the hypothalamus of growth-hormone-deficient children: a combined magnetic resonance imaging and endocrine study. MPHD, MRI
99  1990 Isolated growth hormone deficiency: analysis of the growth hormone (GH)-releasing hormone gene and the GH gene cluster. GH
100  1989 The effects of galanin on growth hormone secretion in children of normal and short stature. CGD, GAL, GH, NS