Found: 33
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A novel mutation in the anti-müllerian hormone gene as cause of persistent müllerian duct syndrome.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Successful use of omalizumab in an inadequately controlled type 2 diabetic patient with severe insulin allergy.
- Published in:
- 2012
- By:
- Publication type:
- Case Study
Reply to comment on: Biason-Lauber A, Boehm B, Lang-Muritano M et al. (2005) Association of childhood type 1 diabetes mellitus with a variant of PAX4: possible link to beta cell regenerative capacity. Diabetologia 48:900–905.
- Published in:
- 2005
- By:
- Publication type:
- Letter
Association of childhood type 1 diabetes mellitus with a variant of PAX4: possible link to beta cell regenerative capacity.
- Published in:
- Diabetologia, 2005, v. 48, n. 5, p. 900, doi. 10.1007/s00125-005-1723-5
- By:
- Publication type:
- Article
Epidemiology of Type I diabetes mellitus in Switzerland: steep rise in incidence in under 5 year old children in the past decade.
- Published in:
- Diabetologia, 2001, v. 44, n. 3, p. 286, doi. 10.1007/s001250051615
- By:
- Publication type:
- Article
A novel mutation inducing partial androgen–insensitivity syndrome with phenotypic diversity.
- Published in:
- BJU International, 2003, v. 92, p. e34, doi. 10.1111/j.1464-410X.2003.04030.x
- By:
- Publication type:
- Article
Pluripotent Cell Models for Gonadal Research.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 21, p. 5495, doi. 10.3390/ijms20215495
- By:
- Publication type:
- Article
The diabetes-linked transcription factor PAX4 promotes β-cell proliferation and survival in rat and human islets.
- Published in:
- Journal of Cell Biology, 2004, v. 167, n. 6, p. 1123, doi. 10.1083/jcb.200405148
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- Publication type:
- Article
Effects of Steroid Hormones on Sex Differences in Cerebral Perfusion.
- Published in:
- PLoS ONE, 2015, v. 10, n. 9, p. 1, doi. 10.1371/journal.pone.0135827
- By:
- Publication type:
- Article
Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Identification and Functional Analysis of a New WNT4 Gene Mutation among 28 Adolescent Girls with Primary Amenorrhea and Müllerian Duct Abnormalities: A French Collaborative Study
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 3, p. 895, doi. 10.1210/jc.2007-2023
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- Publication type:
- Article
P450c17 Deficiency: Clinical and Molecular Characterization of Six Patients.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 3, p. 1000, doi. 10.1210/jc.2006-1486
- By:
- Publication type:
- Article
Combined 17alpha-Hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene.
- Published in:
- 2002
- By:
- Publication type:
- journal article
17alpha-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation.
- Published in:
- 2000
- By:
- Publication type:
- journal article
A single amino acid substitution in the putative redox partner-binding site of P450c17 as cause of isolated 17,20-lyase deficiency.
- Published in:
- 1997
- By:
- Publication type:
- journal article
Endocrine and molecular investigations in a cohort of 25 adolescent males with prominent/persistent pubertal gynecomastia.
- Published in:
- Andrology, 2016, v. 4, n. 2, p. 263, doi. 10.1111/andr.12145
- By:
- Publication type:
- Article
CBX2 in DSD: The Quirky Kid on the Block.
- Published in:
- Sexual Development, 2022, v. 16, n. 2/3, p. 162, doi. 10.1159/000522164
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- Publication type:
- Article
WNT4 and Sex Development.
- Published in:
- Sexual Development, 2008, v. 2, n. 4/5, p. 210, doi. 10.1159/000152037
- By:
- Publication type:
- Article
A novel DAX-1 (NR0B1) mutation in a boy with X-linked adrenal hypoplasia congenita.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 12, p. 1321, doi. 10.1515/jpem-2017-0261
- By:
- Publication type:
- Article
The transcriptional regulator CBX2 and ovarian function: A whole genome and whole transcriptome approach.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-53370-4
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- Publication type:
- Article
CBX2-dependent transcriptional landscape: implications for human sex development and its defects.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-53006-7
- By:
- Publication type:
- Article
Congenital adrenal hyperplasia: Diagnostic advances.
- Published in:
- 2007
- By:
- Publication type:
- Correction Notice
Congenital adrenal hyperplasia: Diagnostic advances.
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 563, doi. 10.1007/s10545-007-0696-6
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- Publication type:
- Article
WNT4 deficiency—a clinical phenotype distinct from the classic Mayer–Rokitansky–Kuster–Hauser syndrome: A Case Report.
- Published in:
- Human Reproduction, 2007, v. 22, n. 1, p. 224, doi. 10.1093/humrep/del360
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- Publication type:
- Article
A conserved function of Human DLC3 and Drosophila Cv-c in testis development.
- Published in:
- eLife, 2022, p. 1, doi. 10.7554/eLife.82343
- By:
- Publication type:
- Article
Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development.
- Published in:
- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 5, p. 785, doi. 10.1002/mgg3.445
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- Publication type:
- Article
A Human Gonadal Cell Model From Induced Pluripotent Stem Cells.
- Published in:
- Frontiers in Genetics, 2018, p. N.PAG, doi. 10.3389/fgene.2018.00498
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- Publication type:
- Article
Intra-adrenal regulation of androgen synthesis.
- Published in:
- European Journal of Clinical Investigation, 2000, v. 30, p. 28, doi. 10.1046/j.1365-2362.2000.0300s3028.x
- By:
- Publication type:
- Article
Clinical, Genetic and Functional Characteristics of Three Novel CYP17A1 Mutations Causing Combined 17α-Hydroxylase/17,20-Lyase Deficiency.
- Published in:
- Hormone Research in Paediatrics, 2010, v. 73, n. 3, p. 198, doi. 10.1159/000284362
- By:
- Publication type:
- Article
Loss of kinase activity in a patient with Wolcott-Rallison syndrome caused by a novel mutation in the EIF2AK3 gene.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Early-Onset Complete Ovarian Failure and Lack of Puberty in a Woman With Mutated Estrogen Receptor β (ESR2).
- Published in:
- 2018
- By:
- Publication type:
- journal article
Successful Use of Omalizumab in an Inadequately Controlled Type 2 Diabetic PatientWith Severe Insulin Allergy.
- Published in:
- Diabetes Care, 2012, v. 35, n. 6, p. e41, doi. 10.2337/dc12-0115
- By:
- Publication type:
- Article
Aromatase deficiency owing to a functional variant in the placenta promoter and a novel missense mutation in the CYP19A1 gene.
- Published in:
- Clinical Endocrinology, 2011, v. 75, n. 1, p. 39, doi. 10.1111/j.1365-2265.2011.04012.x
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- Publication type:
- Article