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A Patient with Proopiomelanocortin Deficiency: An Increasingly Important Diagnosis to Make.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2018, v. 10, n. 1, p. 68, doi. 10.4274/jcrpe.4638
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- Article
ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency.
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- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 1, p. e254, doi. 10.1210/clinem/dgab597
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- Article
Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans.
- Published in:
- 2006
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- Publication type:
- journal article
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 7, p. 788, doi. 10.1038/ng.2275
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- Article
A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans.
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- Nature Genetics, 1999, v. 22, n. 2, p. 125, doi. 10.1038/9629
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- Article
Kisspeptin Is a Novel Regulator of Human Fetal Adrenocortical Development and Function: A Finding With Important Implications for the Human Fetoplacental Unit.
- Published in:
- 2017
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- Publication type:
- journal article
Sterol O-acyltransferase 1 (SOAT1, ACAT) is a novel target of steroidogenic factor-1 (SF-1, NR5A1, Ad4BP) in the human adrenal.
- Published in:
- 2011
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- Publication type:
- journal article
Ambiguous genitalia.
- Published in:
- 2011
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- Publication type:
- journal article
Characterisation and Validation of Insertions and Deletions in 173 Patient Exomes.
- Published in:
- PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0051292
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- Publication type:
- Article
Human RSPO1/R-spondin1 Is Expressed during Early Ovary Development and Augments β-Catenin Signaling.
- Published in:
- PLoS ONE, 2011, v. 6, n. 1, p. 1, doi. 10.1371/journal.pone.0016366
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- Publication type:
- Article
Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR).
- Published in:
- 2010
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- Publication type:
- journal article
Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency.
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- 2009
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- Publication type:
- journal article
CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and disease.
- Published in:
- 2009
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- Publication type:
- journal article
SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development.
- Published in:
- 2008
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- Publication type:
- journal article
Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc.
- Published in:
- 2008
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- Publication type:
- journal article
Variable phenotypes associated with aromatase (CYP19) insufficiency in humans.
- Published in:
- 2007
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- Publication type:
- journal article
Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.
- Published in:
- 2007
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- Publication type:
- journal article
A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia.
- Published in:
- 2006
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- Publication type:
- journal article
Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia.
- Published in:
- 2006
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- Publication type:
- journal article
Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.
- Published in:
- 2006
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- Publication type:
- journal article
A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia.
- Published in:
- 2005
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- Publication type:
- journal article
Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure.
- Published in:
- 2005
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- Publication type:
- journal article
An Alternate Translation Initiation Site Circumvents an Amino-Terminal DAX1 Nonsense Mutation Leading to a Mild Form of X-Linked Adrenal Hypoplasia Congenita.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 1, p. 417, doi. 10.1210/jc.2002-021034
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- Publication type:
- Article
Genetic Causes of Human Reproductive Disease.
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- Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 6, p. 2447, doi. 10.1210/jcem.87.6.8622
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- Publication type:
- Article
Gonadal Determination and Adrenal Development Are Regulated by the Orphan Nuclear Receptor Steroidogenic Factor-1, in a Dose-Dependent Manner.
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- Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 4, p. 1829, doi. 10.1210/jcem.87.4.8376
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- Publication type:
- Article
Hypogonadotropic Hypogonadism as a Presenting Feature of Late-Onset X-Linked Adrenal Hypoplasia Congenita.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 1, p. 44, doi. 10.1210/jcem.87.1.8163
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- Publication type:
- Article
Missense Mutations Cluster within the Carboxyl-Terminal Region of DAX-1 and Impair Transcriptional Repression.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 7, p. 3171, doi. 10.1210/jcem.86.7.7660
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- Publication type:
- Article
X-Linked Adrenal Hypoplasia Congenita: A Mutation in DAX1 Expands the Phenotypic Spectrum in Males and Females.
- Published in:
- 1999
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- Publication type:
- journal article
Mutational Analysis of DAX1 in Patients with Hypogonadotropic Hypogonadism or Pubertal Delay.
- Published in:
- 1999
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- Publication type:
- journal article
Clinical and Functional Effects of Mutations in the DAX-1 Gene in Patients with Adrenal Hypoplasia Congenita.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1999, v. 84, n. 2, p. 504, doi. 10.1210/jcem.84.2.5468
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- Publication type:
- Article
Management of a Girl With Delayed Puberty and Elevated Gonadotropins.
- Published in:
- Journal of the Endocrine Society, 2022, v. 6, n. 9, p. 1, doi. 10.1210/jendso/bvac108
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- Publication type:
- Article
Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency.
- Published in:
- Journal of the Endocrine Society, 2022, v. 6, n. 5, p. 1, doi. 10.1210/jendso/bvac020
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- Publication type:
- Article
Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD.
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- Journal of the Endocrine Society, 2019, v. 3, n. 12, p. 2341, doi. 10.1210/js.2019-00306
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- Article
Analysis of genetic variability in Turner syndrome linked to long-term clinical features.
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- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1227164
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- Publication type:
- Article
Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis.
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- European Journal of Endocrinology, 2020, v. 182, n. 3, p. k15, doi. 10.1530/EJE-19-0696
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- Publication type:
- Article
Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations.
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- European Journal of Endocrinology, 2012, v. 167, n. 1, p. 125, doi. 10.1530/EJE-11-0944
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- Publication type:
- Article
Variable Presentation of X-linked Adrenal Hypoplasia Congenita.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2001, v. 14, n. 8, p. 1093, doi. 10.1515/jpem-2001-0804
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- Publication type:
- Article
Advances in the Molecular Genetics of Hypogonadotropic Hypogonadism.
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- Journal of Pediatric Endocrinology & Metabolism, 2001, v. 14, n. 1, p. 3
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- Publication type:
- Article
ChIP-on-chip analysis reveals angiopoietin 2 (Ang2, ANGPT2) as a novel target of steroidogenic factor-1 (SF-1, NR5A1) in the human adrenal gland.
- Published in:
- FASEB Journal, 2011, v. 25, n. 4, p. 1166, doi. 10.1096/fj.10-170522
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- Article
Genetic disorders of nuclear receptors.
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- 2017
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- Publication type:
- journal article
Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study.
- Published in:
- Human Reproduction, 2007, v. 22, n. 12, p. 3255, doi. 10.1093/humrep/dem278
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- Publication type:
- Article
A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics.
- Published in:
- 2003
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- Publication type:
- journal article
Co-Existence of Congenital Adrenal Hyperplasia and Bartter Syndrome due to Maternal Uniparental Isodisomy of HSD3B2 and CLCNKB Mutations.
- Published in:
- Hormone Research in Paediatrics, 2020, v. 93, n. 2, p. 137, doi. 10.1159/000507577
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- Publication type:
- Article
Steroidogenic Factor-1 (SF-1, NR5A1) and 46,XX Ovotesticular Disorders of Sex Development: One Factor, Many Phenotypes.
- Published in:
- Hormone Research in Paediatrics, 2017, v. 87, n. 3, p. 1, doi. 10.1159/000454806
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- Publication type:
- Article
Comment on: Congenital dyserythropoietic anemia type IV with KLF1 E325K mutation: A new case with dysmorphic male genitalia. Report of a second case.
- Published in:
- Pediatric Blood & Cancer, 2024, v. 71, n. 11, p. 1, doi. 10.1002/pbc.31294
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- Publication type:
- Article
Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome.
- Published in:
- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.953707
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- Publication type:
- Article
Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report.
- Published in:
- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.860055
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- Publication type:
- Article
Human sex development: targeted technologies to improve diagnosis.
- Published in:
- Genome Biology, 2016, v. 17, p. 1, doi. 10.1186/s13059-016-1128-4
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- Publication type:
- Article
Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency.
- Published in:
- Human Mutation, 2008, v. 29, n. 1, p. 59, doi. 10.1002/humu.20588
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- Publication type:
- Article
Primary adrenal insufficiency: New genetic causes and their long‐term consequences.
- Published in:
- Clinical Endocrinology, 2020, v. 92, n. 1, p. 11, doi. 10.1111/cen.14109
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- Publication type:
- Article