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Authors: Antonio M Lerario
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Journal Article

Non-recurrent mutations and copy number changes predominate pituitary adenoma genomes Get access

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Dipika R Mohan and others
European Journal of Endocrinology, Volume 192, Issue 5, May 2025, Pages 590–602, https://doi.org/10.1093/ejendo/lvaf086
Published: 29 April 2025
Journal Article

Deleterious variants in intolerant genes reveal new candidates for self-limited delayed puberty Get access

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Raíssa C Rezende and others
European Journal of Endocrinology, Volume 192, Issue 4, April 2025, Pages 481–490, https://doi.org/10.1093/ejendo/lvaf061
Published: 07 April 2025
Journal Article

Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability Get access

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Naiara C B Dantas and others
European Journal of Endocrinology, Volume 189, Issue 3, September 2023, Pages 387–395, https://doi.org/10.1093/ejendo/lvad128
Published: 11 September 2023
Journal Article

The phenotypic spectrum associated with OTX2 mutations in humans

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Louise C Gregory and others
European Journal of Endocrinology, Volume 185, Issue 1, Jul 2021, Pages 121–135, https://doi.org/10.1530/EJE-20-1453
Published: 25 May 2021
Journal Article

Comprehensive Genetic Analysis of 128 Candidate Genes in a Cohort With Idiopathic, Severe, or Familial Osteoporosis

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Manuela G M Rocha-Braz and others
Journal of the Endocrine Society, Volume 4, Issue 12, December 2020, bvaa148, https://doi.org/10.1210/jendso/bvaa148
Published: 07 October 2020
Journal Article

SUN-931 Characterization of an Ovarian Steroid Cell Tumor in a VHL Patient

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Marta Claudia Nocito and others
Journal of the Endocrine Society, Volume 4, Issue Supplement_1, April-May 2020, SUN-931, https://doi.org/10.1210/jendso/bvaa046.1344
Published: 08 May 2020
Journal Article

Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants

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Lucía Sentchordi-Montané and others
The Journal of Clinical Endocrinology & Metabolism, Volume 105, Issue 8, August 2020, Pages 2654–2666, https://doi.org/10.1210/clinem/dgaa218
Published: 20 April 2020
Journal Article

New Insights Into Pheochromocytoma Surveillance of Young Patients With VHL Missense Mutations

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Gustavo F C Fagundes and others
Journal of the Endocrine Society, Volume 3, Issue 9, September 2019, Pages 1682–1692, https://doi.org/10.1210/js.2019-00225
Published: 02 July 2019
Journal Article

Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency

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Monica M Franca and others
The Journal of Clinical Endocrinology & Metabolism, Volume 104, Issue 7, July 2019, Pages 2827–2841, https://doi.org/10.1210/jc.2018-02485
Published: 04 March 2019
Journal Article

Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein

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Adam Chamberlin and others
Human Molecular Genetics, Volume 28, Issue 10, 15 May 2019, Pages 1620–1628, https://doi.org/10.1093/hmg/ddz002
Published: 04 January 2019
Journal Article

Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature

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Bruna L Freire and others
The Journal of Clinical Endocrinology & Metabolism, Volume 104, Issue 6, June 2019, Pages 2023–2030, https://doi.org/10.1210/jc.2018-01971
Published: 02 January 2019
Journal Article

Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing Get access

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Rafael A Carvalho and others
European Journal of Endocrinology, Volume 179, Issue 6, Dec 2018, Pages 391–407, https://doi.org/10.1530/EJE-18-0430
Published: 01 December 2018
Journal Article

11-Ketotestosterone Is the Dominant Circulating Bioactive Androgen During Normal and Premature Adrenarche

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Juilee Rege and others
The Journal of Clinical Endocrinology & Metabolism, Volume 103, Issue 12, December 2018, Pages 4589–4598, https://doi.org/10.1210/jc.2018-00736
Published: 17 August 2018
Journal Article

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

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Davor Lessel and others
Brain, Volume 141, Issue 8, August 2018, Pages 2299–2311, https://doi.org/10.1093/brain/awy173
Published: 09 July 2018
Journal Article

Sonic Hedgehog and WNT Signaling Promote Adrenal Gland Regeneration in Male Mice

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Isabella Finco and others
Endocrinology, Volume 159, Issue 2, February 2018, Pages 579–596, https://doi.org/10.1210/en.2017-03061
Published: 01 December 2017
Journal Article

IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy

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Gabriela A Vasques and others
The Journal of Clinical Endocrinology & Metabolism, Volume 103, Issue 2, February 2018, Pages 604–614, https://doi.org/10.1210/jc.2017-02026
Published: 15 November 2017
Journal Article

Age-dependent Increases in Adrenal Cytochrome b5 and Serum 5-Androstenediol-3-sulfate

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Juilee Rege and others
The Journal of Clinical Endocrinology & Metabolism, Volume 101, Issue 12, 1 December 2016, Pages 4585–4593, https://doi.org/10.1210/jc.2016-2864
Published: 13 September 2016
Journal Article

Combined expression of BUB1B, DLGAP5, and PINK1 as predictors of poor outcome in adrenocortical tumors: validation in a Brazilian cohort of adult and pediatric patients Get access

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Maria Candida B V Fragoso and others
European Journal of Endocrinology, Volume 166, Issue 1, Jan 2012, Pages 61–67, https://doi.org/10.1530/EJE-11-0806
Published: 01 January 2012
Journal Article

Steroidogenic Factor 1 Overexpression and Gene Amplification Are More Frequent in Adrenocortical Tumors from Children than from Adults Get access

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Madson Q. Almeida and others
The Journal of Clinical Endocrinology & Metabolism, Volume 95, Issue 3, 1 March 2010, Pages 1458–1462, https://doi.org/10.1210/jc.2009-2040
Published: 01 March 2010