Found: 87
Select item for more details and to access through your institution.
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
- By:
- Publication type:
- Article
Associations between collagen X biomarker and linear growth velocity in a pediatric chronic kidney disease cohort.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 12, p. 4145, doi. 10.1007/s00467-023-06047-0
- By:
- Publication type:
- Article
Novel therapies for growth disorders.
- Published in:
- European Journal of Pediatrics, 2024, v. 183, n. 3, p. 1121, doi. 10.1007/s00431-023-05239-y
- By:
- 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
- By:
- Publication type:
- Article
De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.
- Published in:
- BMC Genomics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12864-015-1898-1
- By:
- Publication type:
- Article
Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 11, p. 2880, doi. 10.1093/hmg/ddu001
- By:
- Publication type:
- Article
256-OR: Using Human Induced Pluripotent Stem Cell Derived Organoids to Identify New Pathologies in Patients with Pdx1 Mutations.
- Published in:
- Diabetes, 2020, v. 69, p. N.PAG, doi. 10.2337/db20-256-OR
- By:
- Publication type:
- Article
1260-P: A Clinical Care Improvement Pilot Program: Individualized Health Coaching and Use of Incentives for Youth with Type 1 Diabetes and Their Caregivers.
- Published in:
- Diabetes, 2019, v. 68, p. N.PAG, doi. 10.2337/db19-1260-P
- By:
- Publication type:
- Article
330-LB: Using Human Induced Pluripotent Stem Cell-Derived Organoids to Identify New Pathologies in Patients with PDX1 Mutations.
- Published in:
- Diabetes, 2019, v. 68, p. N.PAG, doi. 10.2337/db19-330-LB
- By:
- Publication type:
- Article
Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability.
- Published in:
- EMBO Molecular Medicine, 2016, v. 8, n. 4, p. 363, doi. 10.15252/emmm.201506106
- By:
- Publication type:
- Article
17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 534, doi. 10.1038/ejhg.2011.239
- By:
- 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
- By:
- Publication type:
- Article
Common Variants Show Predicted Polygenic Effects on Height in the Tails of the Distribution, Except in Extremely Short Individuals.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 12, p. 1, doi. 10.1371/journal.pgen.1002439
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Weekly Growth Hormone (Lonapegsomatropin) Causes Severe Transient Hyperglycemia in a Child with Obesity.
- Published in:
- Hormone Research in Paediatrics, 2023, v. 96, n. 5, p. 542, doi. 10.1159/000530522
- By:
- 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
- By:
- Publication type:
- Article
Growth Hormone Stimulation Testing Patterns Contribute to Sex Differences in Pediatric Growth Hormone Treatment.
- Published in:
- Hormone Research in Paediatrics, 2021, v. 94, n. 9/10, p. 353, doi. 10.1159/000520250
- By:
- Publication type:
- Article
Growth Hormone and Insulin-Like Growth Factor Dysregulation in Pediatric Chronic Kidney Disease.
- Published in:
- Hormone Research in Paediatrics, 2021, v. 94, n. 3/4, p. 105, doi. 10.1159/000516558
- By:
- 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
- By:
- Publication type:
- Article
Arm Span and Its Relation to Height in a 2- to 17-Year-Old Reference Population and Heterozygous Carriers of ACAN Variants.
- Published in:
- Hormone Research in Paediatrics, 2020, v. 93, n. 3, p. 164, doi. 10.1159/000508500
- By:
- 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
- By:
- Publication type:
- Article
Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature.
- Published in:
- Hormone Research in Paediatrics, 2019, v. 92, n. 2, p. 115, doi. 10.1159/000503782
- By:
- Publication type:
- Article
Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International Perspective.
- Published in:
- Hormone Research in Paediatrics, 2019, v. 92, n. 1, p. 1, doi. 10.1159/000502231
- By:
- Publication type:
- Article
Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome.
- Published in:
- Hormone Research in Paediatrics, 2018, v. 90, n. 6, p. 407, doi. 10.1159/000496700
- By:
- Publication type:
- Article
Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in <bold>CYP11A1</bold>.
- Published in:
- Hormone Research in Paediatrics, 2018, v. 89, n. 3, p. 205, doi. 10.1159/000487638
- By:
- Publication type:
- Article
IGF-I Deficiency in the Era of Genomics: Lessons Learned.
- Published in:
- Hormone Research in Paediatrics, 2017, v. 88, n. 6, p. 418, doi. 10.1159/000481285
- By:
- 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
- By:
- Publication type:
- 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
- By:
- Publication type:
- Article
Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia.
- Published in:
- Hormone Research in Paediatrics, 2016, v. 86, n. 5, p. 342, doi. 10.1159/000446476
- By:
- 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
- By:
- Publication type:
- 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
- By:
- Publication type:
- Article
Whole Exome Sequencing to Identify Genetic Causes of Short Stature.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 82, n. 1, p. 44, doi. 10.1159/000360857
- By:
- Publication type:
- Article
Isolated Central Hypothyroidism in Young Siblings as a Manifestation of PROP1 Deficiency: Clinical Impact of Whole Exome Sequencing.
- Published in:
- Hormone Research in Paediatrics, 2013, v. 79, n. 6, p. 379, doi. 10.1159/000350013
- By:
- Publication type:
- Article
Genome-Wide Association Studies in Pediatric Endocrinology.
- Published in:
- Hormone Research in Paediatrics, 2011, v. 75, n. 5, p. 322, doi. 10.1159/000326684
- By:
- Publication type:
- Article
Novel germline mutation (Leu512Met) in the thyrotropin receptor gene (TSHR) leading to sporadic non-autoimmune hyperthyroidism.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 3, p. 343, doi. 10.1515/jpem-2016-0185
- By:
- Publication type:
- Article
Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 7/8, p. 927, doi. 10.1515/jpem-2014-0450
- By:
- Publication type:
- Article
Developmental Adaptive Immune Defects Associated with STAT5B Deficiency in Three Young Siblings.
- Published in:
- Journal of Clinical Immunology, 2021, v. 41, n. 1, p. 136, doi. 10.1007/s10875-020-00884-6
- By:
- Publication type:
- Article
A Successful HSCT in a Girl with Novel LRBA Mutation with Refractory Celiac Disease.
- Published in:
- 2016
- By:
- Publication type:
- Letter
Growth Hormone Therapy in the Short SGA Child: Does Time Matter?
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 7, p. e495, doi. 10.1210/clinem/dgad021
- By:
- 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
- By:
- Publication type:
- Article
Clinical Utility of Anti-Mullerian Hormone in Pediatrics.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 2, p. 309, doi. 10.1210/clinem/dgab687
- By:
- Publication type:
- Article
Response to Letter to the Editor: "A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness".
- Published in:
- 2021
- By:
- Publication type:
- letter
A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Response to Letter to the Editor: "Genetic Testing for the Child with Short Stature: Has the Time Come to Change Our Diagnostic Paradigm?".
- Published in:
- 2019
- By:
- Publication type:
- letter
Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing.
- Published in:
- Clinical Case Reports, 2018, v. 6, n. 8, p. 1531, doi. 10.1002/ccr3.1655
- By:
- Publication type:
- Article
Nocturnal Dexamethasone versus Hydrocortisone for the Treatment of Children with Congenital Adrenal Hyperplasia.
- Published in:
- International Journal of Pediatric Endocrinology, 2010, p. 1, doi. 10.1155/2010/347636
- By:
- Publication type:
- Article
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-63
- By:
- Publication type:
- Article
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Ezh2 Mutations Found in the Weaver Overgrowth Syndrome Cause a Partial Loss of H3K27 Histone Methyltransferase Activity.
- Published in:
- 2017
- By:
- Publication type:
- journal article