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Congenital Hypothyroidism Due to Truncating PAX8 Mutations: A Case Series and Molecular Function Studies.
- Published in:
- 2020
- By:
- Publication type:
- journal article
A Novel Homozygous Mutation of Thyroid Peroxidase Gene Abolishes a Disulfide Bond Leading to Congenital Hypothyroidism.
- Published in:
- International Journal of Endocrinology, 2020, p. 1, doi. 10.1155/2020/9132372
- By:
- Publication type:
- Article
A Small-for-Gestational-Age Infant with MIRAGE Syndrome Who Developed Heat Stroke and Rhabdomyolysis due to Severe Temperature Instability.
- Published in:
- Neonatology (16617800), 2023, v. 120, n. 3, p. 390, doi. 10.1159/000529762
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- Publication type:
- Article
Response to Letter to the Editor From Janot et al: "Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia".
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 9, p. e1812, doi. 10.1210/clinem/dgae230
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- Publication type:
- Article
Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 3, p. 641, doi. 10.1210/clinem/dgad627
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- Publication type:
- Article
A Case of Luscan-Lumish Syndrome: Possible Involvement of Enhanced GH Signaling.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Inactivation of a Frameshift TSH Receptor Variant Val711Phefs*18 is Due to Acquisition of a Hydrophobic Degron.
- Published in:
- 2021
- By:
- Publication type:
- journal article
The Patterning and Proportion of Charged Residues in the Arginine-Rich Mixed-Charge Domain Determine the Membrane-Less Organelle Targeted by the Protein.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 14, p. 7658, doi. 10.3390/ijms23147658
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- Publication type:
- Article
Graves' disease as an emerging complication of MIRAGE syndrome.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Discovery of MIRAGE syndrome.
- Published in:
- Pediatrics International, 2022, v. 64, n. 1, p. 1, doi. 10.1111/ped.15283
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- Publication type:
- Article
Correspondence between computed tomography and endoscopy in Menetrier’s disease.
- Published in:
- Pediatrics International, 2008, v. 50, n. 2, p. 245, doi. 10.1111/j.1442-200X.2008.02546.x
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- Publication type:
- Article
Whole-exome analysis of 177 pediatric patients with undiagnosed diseases.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-14161-6
- By:
- Publication type:
- Article
Identification of the first promoter-specific gain-of-function SOX9 missense variant (p.E50K) in a patient with 46,XX ovotesticular disorder of sex development.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1067, doi. 10.1002/ajmg.a.62063
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- Publication type:
- Article
A novel <italic>SAMD9</italic> mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 415, doi. 10.1002/ajmg.a.38557
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- Publication type:
- Article
A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1071, doi. 10.1002/ajmg.a.38099
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- Publication type:
- Article
Stippled calcification in an infant with a recurrent SRCAP gene mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1088, doi. 10.1002/ajmg.a.37516
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- Publication type:
- Article
Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 795, doi. 10.1002/ajmg.a.37481
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- Publication type:
- Article
Severe osteogenesis imperfecta caused by double glycine substitutions near the amino-terminal triple helical region in COL1A2.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1627, doi. 10.1002/ajmg.a.37051
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- Publication type:
- Article
A case with neonatal hyperinsulinemic hypoglycemia: It is a characteristic complication of sotos syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1171, doi. 10.1002/ajmg.a.36996
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- Publication type:
- Article
Delayed onset congenital hypothyroidism in a patient with DUOX2 mutations and maternal iodine excess.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 214, doi. 10.1002/ajmg.a.35693
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- Publication type:
- Article
A family of pseudohypoparathyroidism type Ia with an 850-kb submicroscopic deletion encompassing the whole GNAS locus.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 261, doi. 10.1002/ajmg.a.34393
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- Publication type:
- Article
Comprehensive Next-Generation Sequencing Analyses of Hypoparathyroidism: Identification of Novel GCM2 Mutations.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature.
- Published in:
- 2014
- By:
- Publication type:
- journal article
PAX8 Mutation Disturbing Thyroid Follicular Growth: A Case Report.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 12, p. E2039, doi. 10.1210/jc.2011-1114
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- Publication type:
- Article
Molecular Basis of Thyroid Dyshormonogenesis: Genetic Screening in Population-Based Japanese Patients.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 11, p. E1838, doi. 10.1210/jc.2011-1573
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- Publication type:
- Article
Nonclassic TSH Resistance: TSHR Mutation Carriers with Discrepantly High Thyroidal Iodine Uptake.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 8, p. E1340, doi. 10.1210/jc.2011-0070
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- Publication type:
- Article
Efficacy of denosumab therapy for osteoporosis-pseudoglioma syndrome with osteoporosis: a case report.
- Published in:
- Modern Rheumatology Case Reports, 2019, v. 3, n. 1, p. 45, doi. 10.1080/24725625.2018.1454573
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- Publication type:
- Article
Quantitative and Sensitive Detection of <i>GNAS</i> Mutations Causing McCune-Albright Syndrome with Next Generation Sequencing.
- Published in:
- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0060525
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- Publication type:
- Article
Gradual Loss of ACTH Due to a Novel Mutation in LHX4: Comprehensive Mutation Screening in Japanese Patients with Congenital Hypopituitarism.
- Published in:
- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0046008
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- Publication type:
- Article
Transcription Factor Mutations and Congenital Hypothyroidism: Systematic Genetic Screening of a Population-Based Cohort of Japanese Patients.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 4, p. 1981, doi. 10.1210/jc.2009-2373
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- Publication type:
- Article
TSHR Mutations as a Cause of Congenital Hypothyroidism in Japan: A Population-Based Genetic Epidemiology Study.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 4, p. 1317, doi. 10.1210/jc.2008-1767
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- Publication type:
- Article
Role of Liquid–Liquid Separation in Endocrine and Living Cells.
- Published in:
- Journal of the Endocrine Society, 2021, v. 5, n. 10, p. 1, doi. 10.1210/jendso/bvab126
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- Publication type:
- Article
SOX10 Mutation Screening for 117 Patients with Kallmann Syndrome.
- Published in:
- Journal of the Endocrine Society, 2021, v. 5, n. 7, p. 1, doi. 10.1210/jendso/bvab056
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- Publication type:
- Article
Growth-chart-based qualitative evaluation of height growth after hematopoietic stem cell transplantation.
- Published in:
- Pediatric Transplantation, 2006, v. 10, n. 1, p. 26, doi. 10.1111/j.1399-3046.2005.00388.x
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- Publication type:
- Article
Molecular and Clinical Features of Congenital Hypothyroidism Due to Multiple DUOX2 Variants.
- Published in:
- Thyroid, 2024, v. 34, n. 7, p. 827, doi. 10.1089/thy.2024.0046
- By:
- Publication type:
- Article
Disulfide Bonds of Thyroid Peroxidase Are Critical Elements for Subcellular Localization, Proteasome-Dependent Degradation, and Enzyme Activity.
- Published in:
- Thyroid, 2024, v. 34, n. 5, p. 659, doi. 10.1089/thy.2023.0514
- By:
- Publication type:
- Article
Adult Thyroid Outcomes of Congenital Hypothyroidism.
- Published in:
- Thyroid, 2023, v. 33, n. 5, p. 556, doi. 10.1089/thy.2022.0481
- By:
- Publication type:
- Article
NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty.
- Published in:
- Sexual Development, 2016, v. 10, n. 4, p. 205, doi. 10.1159/000448726
- By:
- Publication type:
- Article
Transient congenital hypothyroidism caused by compound heterozygous mutations affecting the NADPH-oxidase domain of DUOX2.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 3, p. 363, doi. 10.1515/jpem-2014-0479
- By:
- Publication type:
- Article
Congenital hypothyroidism caused by a novel mutation of the dual oxidase 2 ( DUOX2) gene.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2013, v. 26, n. 1/2, p. 45, doi. 10.1515/jpem-2012-0082
- By:
- Publication type:
- Article
Association between monoallelic TSHR mutations and congenital hypothyroidism: a statistical approach.
- Published in:
- European Journal of Endocrinology, 2018, v. 178, n. 2, p. 137, doi. 10.1530/EJE-16-1049
- By:
- Publication type:
- Article
Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: new evidence for haploinsufficiency as a disease mechanism.
- Published in:
- European Journal of Endocrinology, 2012, v. 167, n. 5, p. 625, doi. 10.1530/EJE-12-0410
- By:
- Publication type:
- Article
POU1F1/Pou1f1 c.143-83A > G Variant Disrupts the Branch Site in Pre-mRNA and Leads to Dwarfism.
- Published in:
- Endocrinology, 2023, v. 164, n. 2, p. 1, doi. 10.1210/endocr/bqac198
- By:
- Publication type:
- Article
A girl with MIRAGE syndrome who developed steroid-resistant nephrotic syndrome: a case report.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Paradoxical gain-of-function mutant of the G-protein-coupled receptor PROKR2 promotes early puberty.
- Published in:
- Journal of Cellular & Molecular Medicine, 2017, v. 21, n. 10, p. 2623, doi. 10.1111/jcmm.13146
- By:
- Publication type:
- Article
GATA4 mutations are uncommon in patients with 46,XY disorders of sex development without heart anomaly.
- Published in:
- Asian Journal of Andrology, 2018, v. 20, n. 6, p. 629, doi. 10.4103/aja.aja_20_18
- By:
- Publication type:
- Article
Congenital pituitary hypoplasia model demonstrates hypothalamic OTX2 regulation of pituitary progenitor cells.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Congenital pituitary hypoplasia model demonstrates hypothalamic OTX2 regulation of pituitary progenitor cells.
- Published in:
- Journal of Clinical Investigation, 2020, v. 130, n. 2, p. 641, doi. 10.1172/JCI127378.
- By:
- Publication type:
- Article
SOX9 is colocalized with paraspeckle protein NONO in cultured murine sertoli cells and features structural characteristics of intrinsically disordered proteins.
- Published in:
- Molecular Reproduction & Development, 2020, v. 87, n. 11, p. 1124, doi. 10.1002/mrd.23425
- By:
- Publication type:
- Article
Evaluating the seasonality of growth in infants using a mobile phone application.
- Published in:
- NPJ Digital Medicine, 2020, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41746-020-00345-9
- By:
- Publication type:
- Article