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A Novel, Heterozygous, de novo Splicing Variant Affecting the Intracellular Domain of the Growth Hormone Receptor, and Causing a Mild Short Stature.
- Published in:
- Hormone Research in Paediatrics, 2024, v. 97, n. 4, p. 397, doi. 10.1159/000534183
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- Publication type:
- Article
Recombinant Human Insulin-Like Growth Factor-1 Treatment of Severe Growth Failure in Three Siblings with STAT5B Deficiency.
- Published in:
- Hormone Research in Paediatrics, 2024, v. 97, n. 2, p. 195, doi. 10.1159/000531491
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- Publication type:
- Article
Five-Year Therapy with Recombinant Human Insulin-Like Growth Factor-1 in a Patient with PAPP-A2 Deficiency.
- Published in:
- Hormone Research in Paediatrics, 2023, v. 96, n. 5, p. 449, doi. 10.1159/000529071
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- Publication type:
- Article
Signal Transducer and Activator of Transcription 5B Deficiency-associated Lung Disease.
- Published in:
- 2022
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- Publication type:
- letter
Treatment of Short Stature in Aggrecan-deficient Patients With Recombinant Human Growth Hormone: 1-Year Response.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 5, p. e2103, doi. 10.1210/clinem/dgab904
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- Publication type:
- Article
Clinical phenotype and musculoskeletal characteristics of patients with aggrecan deficiency.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1193, doi. 10.1002/ajmg.a.62639
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- Publication type:
- Article
Growth Hormone Receptor (GHR) 6O Pseudoexon Activation: A Novel Cause of Severe Growth Hormone Insensitivity.
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- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 1, p. e401, doi. 10.1210/clinem/dgab550
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- Publication type:
- Article
Genetic causes of growth hormone insensitivity beyond GHR.
- Published in:
- Reviews in Endocrine & Metabolic Disorders, 2021, v. 22, n. 1, p. 43, doi. 10.1007/s11154-020-09603-3
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- Publication type:
- Article
Developmental Adaptive Immune Defects Associated with STAT5B Deficiency in Three Young Siblings.
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- Journal of Clinical Immunology, 2021, v. 41, n. 1, p. 136, doi. 10.1007/s10875-020-00884-6
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- Publication type:
- Article
Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity.
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- European Journal of Endocrinology, 2020, v. 183, n. 6, p. 581, doi. 10.1530/EJE-20-0474
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- Publication type:
- Article
Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes.
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- Birth Defects Research, 2020, v. 112, n. 19, p. 1733, doi. 10.1002/bdr2.1801
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- Publication type:
- Article
A Novel Mutation in Insulin-Like Growth Factor 1 Receptor (c.641-2A>G) Is Associated with Impaired Growth, Hypoglycemia, and Modified Immune Phenotypes.
- Published in:
- Hormone Research in Paediatrics, 2020, v. 93, n. 5, p. 322, doi. 10.1159/000510764
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- Publication type:
- Article
新規ホモ IGF1 受容体異常症を認めた姉弟例とその成長障害機序の検討.
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- Journal of Japanese Association for Human Auxology, 2020, v. 26, n. 2, p. 103
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- Publication type:
- Article
Severe growth failure associated with a novel heterozygous nonsense mutation in the GHR transmembrane domain leading to elevated growth hormone binding protein.
- Published in:
- Clinical Endocrinology, 2020, v. 92, n. 4, p. 331, doi. 10.1111/cen.14148
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- Publication type:
- Article
Anthropometric and biochemical correlates of PAPP-A2, free IGF-I, and IGFBP-3 in childhood.
- Published in:
- European Journal of Endocrinology, 2020, v. 182, n. 3, p. 363
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- Publication type:
- Article
A Novel Homozygous Mutation of the Acid-Labile Subunit (IGFALS) Gene in a Male Adolescent.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2019, v. 11, n. 4, p. 432, doi. 10.4274/jcrpe.galenos.2019.2018.0301
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- Publication type:
- Article
Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels.
- Published in:
- Hormone Research in Paediatrics, 2019, v. 92, n. 3, p. 186, doi. 10.1159/000504884
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- Publication type:
- Article
Low IGF-I Bioavailability Impairs Growth and Glucose Metabolism in a Mouse Model of Human PAPPA2 p.Ala1033Val Mutation.
- Published in:
- Endocrinology, 2019, v. 160, n. 6, p. 1363, doi. 10.1210/en.2018-00755
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- Publication type:
- Article
Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action.
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- Endocrine Reviews, 2019, v. 40, n. 2, p. 476, doi. 10.1210/er.2018-00146
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- Publication type:
- Article
Laron syndrome related to homozygous growth hormone receptor c.784>C mutation in a patient with hypoplastic pulmonary arteries.
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- Cardiovascular Journal of Africa, 2019, v. 30, n. 2, p. e7, doi. 10.5830/CVJA-2019-002
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- Publication type:
- Article
Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-04521-0
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- Publication type:
- Article
Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in <bold>CYP11A1</bold>.
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- Hormone Research in Paediatrics, 2018, v. 89, n. 3, p. 205, doi. 10.1159/000487638
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- Publication type:
- Article
Isolated growth hormone deficiency due to the R183H mutation in GH1: Clinical analysis of a four-generation family.
- Published in:
- Clinical Endocrinology, 2017, v. 87, n. 6, p. 874, doi. 10.1111/cen.13400
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- Publication type:
- Article
Two Siblings with a Mutation in CCDC8 Presenting with Mild Short Stature: A Case of 3-M Syndrome.
- Published in:
- Hormone Research in Paediatrics, 2017, v. 88, n. 5, p. 364, doi. 10.1159/000477907
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- Publication type:
- Article
Pharmacokinetics of IGF-1 in PAPP-A2-Deficient Patients, Growth Response, and Effects on Glucose and Bone Density.
- Published in:
- 2017
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- Publication type:
- journal article
Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.
- Published in:
- Hormone Research in Paediatrics, 2017, v. 87, n. 6, p. 412, doi. 10.1159/000464143
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- Publication type:
- Article
Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia.
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- Hormone Research in Paediatrics, 2016, v. 86, n. 5, p. 342, doi. 10.1159/000446476
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- Publication type:
- Article
Severe Short Stature in Two Siblings as the Presenting Sign of ACP5 Deficiency.
- Published in:
- Hormone Research in Paediatrics, 2016, v. 85, n. 5, p. 358, doi. 10.1159/000443684
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- Publication type:
- Article
Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability.
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- EMBO Molecular Medicine, 2016, v. 8, n. 4, p. 363, doi. 10.15252/emmm.201506106
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- Publication type:
- Article
A Successful HSCT in a Girl with Novel LRBA Mutation with Refractory Celiac Disease.
- Published in:
- 2016
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- Publication type:
- Letter
STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritability.
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- European Journal of Endocrinology, 2015, v. 173, n. 3, p. 291, doi. 10.1530/EJE-15-0398
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- Publication type:
- Article
An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.
- Published in:
- 2015
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- Publication type:
- journal article
A Novel ERCC6 Splicing Variant Associated with a Mild Cockayne Syndrome Phenotype.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 82, n. 5, p. 344, doi. 10.1159/000368192
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- Publication type:
- Article
A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes.
- Published in:
- 2014
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- Publication type:
- journal article
The E180splice mutation in the GHR gene causing Laron syndrome: Witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1204, doi. 10.1002/ajmg.a.36444
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- Publication type:
- Article
IGFALS gene dosage effects on serum IGF-I and glucose metabolism, body composition, bone growth in length and width, and the pharmacokinetics of recombinant human IGF-I administration.
- Published in:
- 2014
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- Publication type:
- journal article
A Novel GHR Intronic Variant, c.266+83G>T, Activates a Cryptic 5′ Splice Site Causing Severe GHR Deficiency and Classical GH Insensitivity Syndrome.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 80, n. 6, p. 397, doi. 10.1159/000355404
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- Publication type:
- Article
A novel mutation in IGFALS, c.380 T> C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 ( IGF1).
- Published in:
- Clinical Endocrinology, 2013, v. 79, n. 6, p. 838, doi. 10.1111/cen.12200
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- Publication type:
- Article
Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature.
- Published in:
- 2013
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- Publication type:
- journal article
A Novel Exonic GHR Splicing Mutation (c.784G>C) in a Patient with Classical Growth Hormone Insensitivity Syndrome.
- Published in:
- 2013
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- Publication type:
- Case Study
Identification of a Novel Heterozygous IGF1 Splicing Mutation in a Large Kindred with Familial Short Stature.
- Published in:
- Hormone Research in Paediatrics, 2012, v. 78, n. 1, p. 59, doi. 10.1159/000337249
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- Publication type:
- Article
Intrauterine and postnatal growth failure with normal GH/IGF1 axis and insulin-resistant diabetes in a consanguineous kinship.
- Published in:
- European Journal of Endocrinology, 2012, v. 166, n. 3, p. 521, doi. 10.1530/EJE-11-0769
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- Publication type:
- Article
Triple A Syndrome in a Patient with Genetic Growth Hormone Insensitivity: Phenotypic Effects of Two Genetic Disorders.
- Published in:
- 2012
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- Publication type:
- Case Study
The Growth Hormone Receptor (GHR) c.899dupC Mutation Functions as a Dominant Negative: Insights into the Pathophysiology of Intracellular GHR Defects.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 11, p. E1896, doi. 10.1210/jc.2011-1597
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- Publication type:
- Article
A Novel Y332C Missense Mutation in the Intracellular Domain of The Human Growth Hormone Receptor Does Not Alter STAT5b Signaling: Redundancy of GHR Intracellular Tyrosines Involved in STAT5b Signaling.
- Published in:
- Hormone Research in Paediatrics, 2011, v. 75, n. 3, p. 187, doi. 10.1159/000320461
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- Publication type:
- Article
Atypical GH Insensitivity Syndrome and Severe Insulin-Like Growth Factor-I Deficiency Resulting from Compound Heterozygous Mutations of the GH Receptor, Including a Novel Frameshift Mutation Affecting the Intracellular Domain.
- Published in:
- Hormone Research in Paediatrics, 2010, v. 74, n. 6, p. 406, doi. 10.1159/000314968
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- Publication type:
- Article
Impact of Heterozygosity for Acid-Labile Subunit (IGFALS) Gene Mutations on Stature: Results from the International Acid-Labile Subunit Consortium.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 9, p. 4184, doi. 10.1210/jc.2010-0489
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- Publication type:
- Article
Familial Short Stature Caused by Haploinsufficiency of the Insulin-Like Growth Factor I Receptor due to Nonsense-Mediated Messenger Ribonucleic Acid Decay.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 5, p. 1740, doi. 10.1210/jc.2008-1903
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- Publication type:
- Article
Growth Hormone (GH) Insensitivity and Insulin-Like Growth Factor-I Deficiency in Inuit Subjects and an Ecuadorian Cohort: Functional Studies of Two Codon 180 GH Receptor Gene Mutations.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 3, p. 1030, doi. 10.1210/jc.2007-2022
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- Publication type:
- Article
Idiopathic short stature: will genetics influence the choice between GH and IGF-I therapy?
- Published in:
- European Journal of Endocrinology, 2007, v. 157, p. S33, doi. 10.1530/EJE-07-0292
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- Publication type:
- Article