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1-20 of 20
Keywords: Growth hormone insensitivity
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Journal Articles
Long-Term Treatment for Laron Syndrome with IGF-1 Injection over 22 Years in Saudi Arabia: A Cohort Study
Open Access
Journal:
Hormone Research in Paediatrics
Horm Res Paediatr 1–11.
Published Online: 10 December 2024
... therapy in a large cohort of LS patients treated at King Faisal Specialist Hospital and Research Center (KFSH & RC), Riyadh, Saudi Arabia over 22 years. Methods: We conducted a retrospective review of medical records for 28 patients with growth hormone insensitivity syndrome, including 12 males and 16...
Journal Articles
Recombinant Human Insulin-Like Growth Factor-1 Treatment of Severe Growth Failure in Three Siblings with STAT5B Deficiency
Available to PurchaseGajanthan Muthuvel, Sareea Salem Al Remeithi, Corinne Foley, Andrew Dauber, Vivian Hwa, Philippe Backeljauw
Journal:
Hormone Research in Paediatrics
Horm Res Paediatr (2024) 97 (2): 195–202.
Published Online: 16 August 2023
... or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. 2023 STAT5B Growth failure Recombinant human IGF-1 Growth hormone insensitivity Established Facts Patients with homozygous recessive mutations in STAT5B have severe...
Journal Articles
Journal:
Hormone Research in Paediatrics
Horm Res Paediatr (2022) 95 (6): 619–630.
Published Online: 29 November 2022
... or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Insulin-like growth factor Insulin-like growth factor receptor 1 IGF binding protein Pregnancy associated plasma protein A/A2 Acid labile subunit Growth hormone insensitivity IGF...
Journal Articles
Clinical, Endocrine, and Molecular Genetic Analysis of a Large Cohort of Saudi Arabian Patients with Laron Syndrome
Available to PurchaseAbdullah A. Al-Ashwal, Afaf Al-Sagheir, Khushnooda Ramzan, Mohammed Al-Owain, Rabab Allam, Alya Qari, Nouf S. Al-Numair, Faiqa Imtiaz
Journal:
Hormone Research in Paediatrics
Horm Res Paediatr (2017) 88 (2): 119–126.
Published Online: 25 July 2017
...(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Laron syndrome Growth hormone insensitivity Growth hormone receptor GHR mutations Growth hormone insensitivity...
Journal Articles
Recombinant Human Growth Hormone Therapy in Children with Chromosome 15q26 Deletion
Available to PurchaseSheau Chui Ho, Peter Clayton, Pradeep Vasudevan, James Greening, Barbara Wardhaugh, Nick Shaw, Christopher Kelnar, Jeremy Kirk, Wolfgang Högler
Journal:
Hormone Research in Paediatrics
Horm Res Paediatr (2015) 83 (6): 424–430.
Published Online: 22 April 2015
..., an individual trial of GH therapy may be appropriate in these patients. Short stature Growth hormone insensitivity Insulin-like growth factor 1 Insulin-like growth factor 1 receptor gene • Intrauterine and postnatal growth failure due to chromosome 15q26 deletion involving the IGFIR gene causes...
Journal Articles
Genetic Analysis of GHR Should Contain Sequencing of All Coding Exons and Specific Intron Sequences, and Screening for Exon Deletions
Available to PurchaseM.J.E. Walenkamp, J. Klammt, E. Feigerlova, M. Losekoot, H.A. van Duyvenvoorde, V. Hwa, R. Pfäffle, J.M. Wit
Journal:
Hormone Research in Paediatrics
Horm Res Paediatr (2014) 80 (6): 406–412.
Published Online: 02 December 2013
...M.J.E. Walenkamp; J. Klammt; E. Feigerlova; M. Losekoot; H.A. van Duyvenvoorde; V. Hwa; R. Pfäffle; J.M. Wit Background: The work-up of patients with clinical and/or biochemical features of growth hormone insensitivity (GHI) usually contains genetic analysis of the growth hormone receptor (GHR...
Journal Articles
A Novel Exonic GHR Splicing Mutation (c.784G > C) in a Patient with Classical Growth Hormone Insensitivity Syndrome
Available to Purchase
Journal:
Hormone Research in Paediatrics
Horm Res Paediatr (2013) 79 (1): 32–38.
Published Online: 20 September 2012
... to in the content or advertisements. Exon-intron junctions GHR splicing Insulin-like growth factor-I therapy Growth hormone insensitivity c.784G > C mutation • Growth hormone insensitivity (GHI) syndrome is classically associated with mutations in the GH receptor (GHR) gene, with ∼90...
Journal Articles
Postprandial Hyperglycemia Corrected by IGF-I (Increlex®) in Laron Syndrome
Available to PurchaseHanane Latrech, Albane Simon, Jacques Beltrand, Jean-Claude Souberbielle, Ghizlane Belmejdoub, Michel Polak
Journal:
Hormone Research in Paediatrics
Horm Res Paediatr (2012) 78 (3): 193–200.
Published Online: 13 September 2012
.... Growth hormone insensitivity Hypoglycemia Hyperglycemia Insulin-like growth factor-I treatment Laron syndrome • Laron syndrome or primary growth hormone receptor insensitivity is a recessive autosomal disease that manifests as insulin-like growth factor-I (IGF-I) deficiency, severe short...
Journal Articles
Triple A Syndrome in a Patient with Genetic Growth Hormone Insensitivity: Phenotypic Effects of Two Genetic Disorders
Available to PurchaseSilvia Marín, Paula Casano-Sancho, Nancy Villarreal-Peña, Giorgia Sebastiani, Sergio Pinillos, Belén Pérez-Dueñas, Vivian Hwa, Ron G. Rosenfeld, Lourdes Ibáñez
Journal:
Hormone Research in Paediatrics
Horm Res Paediatr (2012) 77 (1): 63–68.
Published Online: 20 January 2012
...Silvia Marín; Paula Casano-Sancho; Nancy Villarreal-Peña; Giorgia Sebastiani; Sergio Pinillos; Belén Pérez-Dueñas; Vivian Hwa; Ron G. Rosenfeld; Lourdes Ibáñez Background: Primary growth hormone insensitivity (GHI) and triple A syndrome are rare autosomal recessive disorders. Case Report...
Journal Articles
Response to Growth Hormone in Short Children with Noonan Syndrome: Correlation to Genotype
Available to Purchase
Journal:
Hormone Research in Paediatrics
Hormone Research (2009) 72 (Suppl. 2): 52–56.
Published Online: 22 December 2009
... syndrome Growth hormone therapy Growth hormone insensitivity Growth velocity Turner syndrome Short stature Children with Noonan syndrome (NS) share several dysmorphic features with girls with Turner syndrome. The growth hormone/insulin-like growth factor I (GH-IGF-I) axis has been studied...
Journal Articles
Human Acid-Labile Subunit Deficiency: Clinical, Endocrine and Metabolic Consequences
Available to PurchaseHoracio M. Domené, Vivian Hwa, Jesús Argente, Jan M. Wit, Cecilia Camacho-Hübner, Héctor G. Jasper, Jesús Pozo, Hermine A. van Duyvenvoorde, Shoshana Yakar, Olga V. Fofanova-Gambetti, Ron G. Rosenfeld
Journal:
Hormone Research in Paediatrics
Hormone Research (2009) 72 (3): 129–141.
Published Online: 01 September 2009
... in the IGFALS gene in patients with total ALS deficiency Acid-labile subunit Insulin-like growth factor-I Insulin-like growth factor binding protein Growth hormone insensitivity Insulin insensitivity IGFALS gene mutations The insulin-like growth factor (IGF) system, consisting of 2...
Journal Articles
Circulating Growth Hormone Binding Proteins
Available to Purchase
Journal:
Hormone Research in Paediatrics
Hormone Research (1994) 42 (4-5): 129–132.
Published Online: 05 December 2008
.... Growth hormone Growth hormone binding protein Growth hormone receptor Growth hormone receptor deficiency Growth hormone insensitivity Laron syndrome Session 1: Basic Aspects and Clinical Relevance of Binding Proteins in the Action of GH and IGF-I HormRes 1994;42:129-132 Ron G. Rosenfeld...
Journal Articles
Insulin-Like Growth Factor I Improves Height in Growth Hormone Insensitivity: Two Years’ Results
Available to Purchase
Journal:
Hormone Research in Paediatrics
Hormone Research (1995) 44 (6): 253–264.
Published Online: 05 December 2008
...M.B. Ranke; M.O. Savage; P.G. Chatelain; M.A. Preece; R.G. Rosenfeld; W.F. Blum; P. Wilton Thirty-one patients with growth hormone insensitivity syndrome (GHIS) and 2 with GH gene deletion (age 11.2 (3.7-22.9) years; BA (GP) 8.2 years; height -6.5 ± 1.6 SDS) were recruited for the multicenter study...
Journal Articles
Growth Hormone Insensitivity and Severe Short Stature in Siblings: A Novel Mutation at the Exon 13-Intron 13 Junction of the STAT5b Gene
Available to PurchaseVivian Hwa, Cecilia Camacho-Hübner, Brian M. Little, Alessia David, Lou A. Metherell, Nesrin El-Khatib, Martin O. Savage, Ron G. Rosenfeld
Journal:
Hormone Research in Paediatrics
Hormone Research (2007) 68 (5): 218–224.
Published Online: 28 March 2007
...Vivian Hwa; Cecilia Camacho-Hübner; Brian M. Little; Alessia David; Lou A. Metherell; Nesrin El-Khatib; Martin O. Savage; Ron G. Rosenfeld Background/Aims: Growth hormone insensitivity (GHI) is characterized by severe short stature, high serum growth hormone (GH), low serum IGF-I and IGFBP-3 levels...
Journal Articles
Diagnosis and Long-Term Human Growth Hormone Treatment of a Boy with Noonan Syndrome
Available to Purchase
Journal:
Hormone Research in Paediatrics
Hormone Research (2007) 67 (Suppl. 1): 98–101.
Published Online: 15 February 2007
... syndrome Short stature Growth velocity PTPN11 mutations Growth hormone insensitivity Clonidine testing showed a GH peak of 6.1 ng/ml after 60 min, which ruled out GH deficiency in this subject according to our cut-off based on GH response in normal children [ 3 ]. The subject also underwent...
Journal Articles
Normal Growth Spurt and Final Height despite Low Levels of All Forms of Circulating Insulin-Like Growth Factor-I in a Patient with Acid-Labile Subunit Deficiency
Available to PurchaseHoracio M. Domené, Alicia S. Martínez, Jan Frystyk, Sonia V. Bengolea, María G. Ropelato, Paula A. Scaglia, Jian-Wen Chen, Carsten Heuck, Ole D. Wolthers, Juan J. Heinrich, Héctor G. Jasper
Journal:
Hormone Research in Paediatrics
Hormone Research (2007) 67 (5): 243–249.
Published Online: 10 January 2007
...-I plasma levels is markedly increased, which opens up the possibility that this animal model has a supernormal local IGF-I production and activity. Acid-labile subunit Insulin-like growth factor-I Insulin-like growth factor binding protein Growth hormone insensitivity Pubertal delay...
Journal Articles
Final Height in Patients with Idiopathic Short Stature and High Growth Hormone Responses to Stimulation Tests
Available to PurchaseCarlos Eduardo Martinelli, Soraya Sader Milani, Joana Karin Previato, Marcos Figueira, Ana Paula Rangel Montenegro, Farideh Miraki-Moud, Sandra Betancourth, Ayrton Custódio Moreira, Martin O. Savage, Cecilia Camacho-Hübner
Journal:
Hormone Research in Paediatrics
Hormone Research (2007) 67 (5): 224–230.
Published Online: 28 November 2006
... between GH levels measured by Nb2 bioassay and GH concentration determined by immunoassay. Growth hormone peak Idiopathic short stature Growth hormone/insulin-like growth factor-I axis Growth hormone insensitivity Growth hormone deficiency (GHD) and GH insensitivity syndrome (GHI...
Journal Articles
Growth Hormone Receptor Sequence Changes Do Not Play a Role in Determining Height in Children with Idiopathic Short Stature
Available to Purchase
Journal:
Hormone Research in Paediatrics
Hormone Research (2006) 65 (4): 210–216.
Published Online: 09 May 2006
... growth hormone insensitivity (GHI). Previous reports suggest that heterozygous mutations in the growth hormone receptor gene (GHR) may account for about 5% of children with idiopathic short stature (ISS). In the present study we have attempted to determine whether mutations in the GHR explain the short...
Journal Articles
Growth Hormone Insensitivity Syndromes: Lessons Learned and Opportunities Missed
Available to Purchase
Journal:
Hormone Research in Paediatrics
Hormone Research (2001) 55 (Suppl. 2): 36–39.
Published Online: 17 November 2004
...(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Growth hormone Growth hormone insensitivity Insulin-like growth factor I Insulin-like growth factor binding protein 3...
Journal Articles
Long-Term Treatment of Growth Hormone Insensitivity Syndrome with IGF-I: Results of the European Multicentre Study
Available to Purchase
Journal:
Hormone Research in Paediatrics
Hormone Research (1999) 51 (3): 128–134.
Published Online: 09 August 1999
... or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. IGF-I Treatment Growth hormone insensitivity Laron syndrome The growth hormone...