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QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-52587-w
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- Article
Insulin-like growth factor binding protein-related protein 1 (IGFBP-rP1/mac 25) is reduced in human prostate cancer and is inversely related to tumor volume and proliferation index in Lucap 23.12 xenografts.
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- Prostate, 2003, v. 56, n. 2, p. 115, doi. 10.1002/pros.10223
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- Article
A Novel, Heterozygous, de novo Splicing Variant Affecting the Intracellular Domain of the Growth Hormone Receptor, and Causing a Mild Short Stature.
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- Hormone Research in Paediatrics, 2024, v. 97, n. 4, p. 397, doi. 10.1159/000534183
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- Article
Recombinant Human Insulin-Like Growth Factor-1 Treatment of Severe Growth Failure in Three Siblings with STAT5B Deficiency.
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- Hormone Research in Paediatrics, 2024, v. 97, n. 2, p. 195, doi. 10.1159/000531491
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- Article
Five-Year Therapy with Recombinant Human Insulin-Like Growth Factor-1 in a Patient with PAPP-A2 Deficiency.
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- Hormone Research in Paediatrics, 2023, v. 96, n. 5, p. 449, doi. 10.1159/000529071
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- 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.
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- Hormone Research in Paediatrics, 2020, v. 93, n. 5, p. 322, doi. 10.1159/000510764
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- Article
Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels.
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- Hormone Research in Paediatrics, 2019, v. 92, n. 3, p. 186, doi. 10.1159/000504884
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- 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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- Article
Two Siblings with a Mutation in CCDC8 Presenting with Mild Short Stature: A Case of 3-M Syndrome.
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- Hormone Research in Paediatrics, 2017, v. 88, n. 5, p. 364, doi. 10.1159/000477907
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- Article
Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.
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- Hormone Research in Paediatrics, 2017, v. 87, n. 6, p. 412, doi. 10.1159/000464143
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- 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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- Article
Severe Short Stature in Two Siblings as the Presenting Sign of ACP5 Deficiency.
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- Hormone Research in Paediatrics, 2016, v. 85, n. 5, p. 358, doi. 10.1159/000443684
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- Article
A Novel ERCC6 Splicing Variant Associated with a Mild Cockayne Syndrome Phenotype.
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- Hormone Research in Paediatrics, 2014, v. 82, n. 5, p. 344, doi. 10.1159/000368192
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- 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.
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- Hormone Research in Paediatrics, 2014, v. 80, n. 6, p. 397, doi. 10.1159/000355404
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- Article
A Novel Exonic GHR Splicing Mutation (c.784G>C) in a Patient with Classical Growth Hormone Insensitivity Syndrome.
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- 2013
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- 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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- Article
Triple A Syndrome in a Patient with Genetic Growth Hormone Insensitivity: Phenotypic Effects of Two Genetic Disorders.
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- 2012
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- Publication type:
- Case Study
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.
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- 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.
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- Hormone Research in Paediatrics, 2010, v. 74, n. 6, p. 406, doi. 10.1159/000314968
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- 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
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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- Article
Signal Transducer and Activator of Transcription 5B Deficiency-associated Lung Disease.
- Published in:
- 2022
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- Publication type:
- letter
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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- Article
Identification of the first patient with a confirmed mutation of the JAK-STAT system.
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- Pediatric Nephrology, 2005, v. 20, n. 3, p. 303, doi. 10.1007/s00467-004-1678-7
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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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- 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
An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.
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- 2015
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- Publication type:
- journal 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
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.
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- 2014
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- Publication type:
- journal article
Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature.
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- 2013
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- Publication type:
- journal article
The Growth Hormone Receptor (GHR) c.899dupC Mutation Functions as a Dominant Negative: Insights into the Pathophysiology of Intracellular GHR Defects.
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- 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
Impact of Heterozygosity for Acid-Labile Subunit (IGFALS) Gene Mutations on Stature: Results from the International Acid-Labile Subunit Consortium.
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- 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.
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- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 5, p. 1740, doi. 10.1210/jc.2008-1903
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- 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.
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- 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
Primary Growth Hormone (GH) Insensitivity and Insulin-Like Growth Factor Deficiency Caused by Novel Compound Heterozygous Mutations of the GH Receptor Gene: Genetic and Functional Studies of Simple and Compound Heterozygous States.
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- Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 6, p. 2223, doi. 10.1210/jc.2006-2624
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- Publication type:
- Article
Total Absence of Functional Acid Labile Subunit, Resulting in Severe Insulin-Like Growth Factor Deficiency and Moderate Growth Failure.
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- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 5, p. 1826, doi. 10.1210/jc.2005-2842
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- Publication type:
- Article
Generation of Anti-Insulin-Like Growth Factor-Binding Protein-Related Protein 1 (IGFBP-rP1/MAC25) Monoclonal Antibodies and Immunoassay: Quantification of IGFBP-rP1 in Human Serum and Distribution in Human Fluids and Tissues.
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- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 7, p. 3401, doi. 10.1210/jc.2002-021315
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- Publication type:
- Article
Interaction of IGF-Binding Protein-Related Protein 1 with a Novel Protein, Neuroendocrine Differentiation Factor, Results in Neuroendocrine Differentiation of Prostate Cancer Cells.
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- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 9, p. 4504, doi. 10.1210/jcem.86.9.7845
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- Publication type:
- Article
Nomenclature of the Insulin-Like Growth Factor-Binding Protein Superfamily.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 2, p. 946, doi. 10.1210/jcem.86.2.7241-2
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- Publication type:
- Article
Characterization of Insulin-Like Growth Factor-Binding Protein-Related Protein-1 in Prostate Cells*.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1998, v. 83, n. 12, p. 4355, doi. 10.1210/jcem.83.12.5341
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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.
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- European Journal of Endocrinology, 2012, v. 166, n. 3, p. 521, doi. 10.1530/EJE-11-0769
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- Publication type:
- Article
Idiopathic short stature: will genetics influence the choice between GH and IGF-I therapy?
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- European Journal of Endocrinology, 2007, v. 157, p. S33, doi. 10.1530/EJE-07-0292
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- Publication type:
- Article
New molecular mechanisms of GH resistance.
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- European Journal of Endocrinology, 2004, p. S11, doi. 10.1530/eje.0.151s011
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- Publication type:
- Article
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
Growth Hormone Receptor (GHR) 6O Pseudoexon Activation: A Novel Cause of Severe Growth Hormone Insensitivity.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 1, p. e401, doi. 10.1210/clinem/dgab550
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- Publication type:
- Article
The Neisseria meningitidis haemoglobin receptor: its role in iron utilization and virulence.
- Published in:
- Molecular Microbiology, 1995, v. 15, n. 3, p. 531, doi. 10.1111/j.1365-2958.1995.tb02266.x
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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.
- Published in:
- Journal of Japanese Association for Human Auxology, 2020, v. 26, n. 2, p. 103
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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
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
Insulin Resistance Is Associated With Increased Serum Concentration of IGF-Binding Protein--Related Protein 1 (IGFBP-rP1/MAC25).
- Published in:
- Diabetes, 2006, v. 55, n. 8, p. 2333, doi. 10.2337/db05-1627
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- Publication type:
- Article