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Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene.
- Published in:
- Cells (2073-4409), 2024, v. 13, n. 6, p. 524, doi. 10.3390/cells13060524
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- Publication type:
- Article
Clinical and molecular study of patients with thyroid dyshormogenesis and variants in the thyroglobulin gene.
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- Frontiers in Endocrinology, 2024, p. 01, doi. 10.3389/fendo.2024.1367808
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- Publication type:
- Article
Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 17, p. 6185, doi. 10.3390/ijms21176185
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- Publication type:
- Article
Oligogenic Origin of Differences of Sex Development in Humans.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 5, p. 1809, doi. 10.3390/ijms21051809
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- Publication type:
- Article
Isolated pulmonary interstitial glycogenosis associated with alveolar growth abnormalities: A long‐term follow‐up study.
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- Pediatric Pulmonology, 2019, v. 54, n. 6, p. 837, doi. 10.1002/ppul.24324
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- Publication type:
- Article
A Novel Homozygous AMRH2 Gene Mutation in a Patient with Persistent Müllerian Duct Syndrome.
- Published in:
- Sexual Development, 2019, v. 13, n. 2, p. 87, doi. 10.1159/000499324
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- Publication type:
- Article
Development of Laboratory Investigations in Disorders of Sex Development.
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- Sexual Development, 2018, v. 12, n. 1-3, p. 7, doi. 10.1159/000479719
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- Publication type:
- Article
Non-Virilizing Congenital Adrenal Hyperplasia in a Female Patient with a Novel HSD3B2 Mutation.
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- Sexual Development, 2016, v. 10, n. 4, p. 200, doi. 10.1159/000448724
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- Publication type:
- Article
LRH-1 May Rescue SF-1 Deficiency for Steroidogenesis: An in vitroand in vivoStudy.
- Published in:
- Sexual Development, 2015, v. 9, n. 3, p. 144, doi. 10.1159/000381575
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- Publication type:
- Article
Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype–Phenotype Correlation.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 15, p. 8473, doi. 10.3390/ijms25158473
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- Publication type:
- Article
A New MAMLD1 Variant in an Infant With Microphallus and Hypospadias With Hormonal Pattern Suggesting Partial Hypogonadotropic Hypogonadism—Case Report.
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- 2022
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- Publication type:
- Case Study
Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations.
- Published in:
- PLoS ONE, 2023, v. 18, n. 7, p. 1, doi. 10.1371/journal.pone.0287515
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- Publication type:
- Article
Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8.
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- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 11, p. e1316, doi. 10.1210/clinem/dgad280
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- Publication type:
- Article
Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid.
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- 2021
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- Publication type:
- journal article
Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype.
- Published in:
- 2020
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- Publication type:
- journal article
A novel CYP17 A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17 A1 gene.
- Published in:
- Clinical Case Reports, 2015, v. 3, n. 10, p. 793, doi. 10.1002/ccr3.343
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- Publication type:
- Article
Human <i>NR5A1</i>/SF-1 Mutations Show Decreased Activity on BDNF (Brain-Derived Neurotrophic Factor), an Important Regulator of Energy Balance: Testing Impact of Novel SF-1 Mutations Beyond Steroidogenesis.
- Published in:
- PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0104838
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- Publication type:
- Article
Contribution of Rare Copy Number Variants to Isolated Human Malformations.
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- PLoS ONE, 2012, v. 7, n. 10, p. 1, doi. 10.1371/journal.pone.0045530
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- Publication type:
- Article
Characterization of Novel SCAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia.
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- PLoS ONE, 2011, v. 6, n. 5, p. 1, doi. 10.1371/journal.pone.0020178
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- Publication type:
- Article
Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report.
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- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.957969
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- Publication type:
- Article
Testicular differentiation factor SF-1 is required for human spleen development.
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- 2014
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- Publication type:
- journal article
Testicular differentiation factor SF-1 is required for human spleen development.
- Published in:
- Journal of Clinical Investigation, 2014, v. 124, n. 5, p. 2071, doi. 10.1172/JCI73186
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- Publication type:
- Article
Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease.
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- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00746
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- Publication type:
- Article
Identifying genes that mediate anthracyline toxicity in immune cells.
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- Frontiers in Pharmacology, 2015, v. 6, p. 1, doi. 10.3389/fphar.2015.00062
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- Publication type:
- Article
STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases.
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- Clinical Endocrinology, 2014, v. 80, n. 2, p. 191, doi. 10.1111/cen.12293
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- Publication type:
- Article
Contribution of human growth hormone-releasing hormone receptor ( GHRHR) gene sequence variation to isolated severe growth hormone deficiency ( ISGHD) and normal adult height.
- Published in:
- Clinical Endocrinology, 2012, v. 77, n. 4, p. 564, doi. 10.1111/j.1365-2265.2012.04410.x
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- Publication type:
- Article
Mechanism of the Dual Activities of Human CYP17A1 and Binding to Anti-Prostate Cancer Drug Abiraterone Revealed by a Novel V366M Mutation Causing 17,20 Lyase Deficiency.
- Published in:
- Pharmaceuticals (14248247), 2018, v. 11, n. 2, p. 37, doi. 10.3390/ph11020037
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- Publication type:
- Article
Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype.
- Published in:
- PLoS ONE, 2015, v. 10, n. 11, p. 1, doi. 10.1371/journal.pone.0142831
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- Publication type:
- Article