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Scopus Author ID: 25227260700

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United States

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Employment (1)

Harvard Medical School: Boston, MA, US

2015-01-01 to present | Instructor (Medicine)
Employment
Source: Self-asserted source
0000-0002-5505-0852

Education and qualifications (1)

University of Sao Paulo: São Paulo, SP, BR

2006-02-01 to 2011-01-14 | Ph.D (Medicine)
Education
Source: Self-asserted source
0000-0002-5505-0852

Professional activities (1)

Harvard Stem Cell Institute: MA, MA, US

2015 to present | Member
Membership
Source: Self-asserted source
0000-0002-5505-0852

Funding (1)

MKRN3 imprinting, regulation, and action in the control of puberty

2017-04 to 2022-03 | Award
NIH/NICHD ( Rockville, MD, US)
GRANT_NUMBER:

K99HD091381
Source: Self-asserted source
0000-0002-5505-0852

Works (26)

Genetics and Epigenetics of Human Pubertal Timing: The Contribution of Genes Associated With Central Precocious Puberty

Journal of the Endocrine Society
2025-01-06 | Journal article
DOI: 10.1210/jendso/bvae228
Contributors: Ana Pinheiro Machado Canton; Delanie Bulcao Macedo; Ana Paula Abreu; Ana Claudia Latronico
Source: check_circle
Crossref

Somatic Activating ESR1 Mutation in an Aggressive Prolactinoma

2024-09-04 | Other
DOI: 10.1210/clinem/dgae615
Contributors: Ana Paula Abreu; Ticiana Paes; Jacobo Buelvas Mebarak; John C. Magnotto; George A. Stamatiades; Yanan Kuang; Cloud Paweletz; Edward R. Laws; Natalie Grosek; Rona S. Carroll et al.
Source: check_circle
Crossref

Unveiling the Central Regulation of Pubertal Development

The Journal of Clinical Endocrinology & Metabolism
2024-02-20 | Journal article
DOI: 10.1210/clinem/dgad486
Contributors: Ana Paula Abreu
Source: check_circle
Crossref

OSR1 disruption contributes to uterine factor infertility via impaired Müllerian duct development and endometrial receptivity

Journal of Clinical Investigation
2023-12-01 | Journal article
DOI: 10.1172/JCI161701
Contributors: Adriana Lofrano-Porto; Sidney Alcântara Pereira; Andrew Dauber; Jordana C.B. Bloom; Audrey N. Fontes; Naomi Asimow; Olívia Laquis de Moraes; Petra Ariadne T. Araujo; Ana Paula Abreu; Michael H. Guo et al.
Source: check_circle
Crossref

Hypothalamic and Pituitary Dysfunction After Extensive Brain Surgery: There Is Thirst for More Knowledge

JCEM Case Reports
2023-11-03 | Journal article
DOI: 10.1210/jcemcr/luad137
Contributors: Francesca Galbiati; George A Stamatiades; Wenya L Bi; Ana Paula Abreu
Source: check_circle
Crossref

The Congenital and Acquired Mechanisms Implicated in the Etiology of Central Precocious Puberty

Endocrine Reviews
2023-03-04 | Journal article
DOI: 10.1210/endrev/bnac020
Contributors: Vinicius N Brito; Ana P M Canton; Carlos Eduardo Seraphim; Ana Paula Abreu; Delanie B Macedo; Berenice B Mendonca; Ursula B Kaiser; Jesús Argente; Ana Claudia Latronico
Source: check_circle
Crossref

MKRN3 inhibits the reproductive axis through actions in kisspeptin-expressing neurons

Journal of Clinical Investigation
2020-05-14 | Journal article
DOI: 10.1172/JCI136564
Contributors: Ana Paula Abreu; Carlos A. Toro; Yong Bhum Song; Victor M Navarro; Martha A. Bosch; Aysegul Eren; Joy N. Liang; Rona S. Carroll; Ana Claudia Latronico; Oline K. Ronnekleiv et al.
Source: check_circle
Crossref

Central precocious puberty caused by a heterozygous deletion in the MKRN3 promoter region

Neuroendocrinology
2018 | Journal article
DOI: 10.1159/000490059
EID:

2-s2.0-85053331005
Contributors: Macedo, D.B.; França, M.M.; Montenegro, L.R.; Cunha-Silva, M.; Best, D.S.; Abreu, A.P.; Kaiser, U.B.; Mendonca, B.B.; Jorge, A.A.L.; Brito, V.N. et al.
Source: Self-asserted source
0000-0002-5505-0852 via Scopus - Elsevier

High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic

Neuroendocrinology
2017 | Journal article
DOI: 10.1159/000446963
EID:

2-s2.0-84970005281
Contributors: Bessa, D.S.; Macedo, D.B.; Brito, V.N.; França, M.M.; Montenegro, L.R.; Cunha-Silva, M.; Silveira, L.G.; Hummel, T.; Bergadá, I.; Braslavsky, D. et al.
Source: Self-asserted source
0000-0002-5505-0852 via Scopus - Elsevier

Paternally Inherited DLK1 deletion associated with familial central precocious puberty

Journal of Clinical Endocrinology and Metabolism
2017 | Journal article
DOI: 10.1210/jc.2016-3677
EID:

2-s2.0-85019112229
Contributors: Dauber, A.; Cunha-Silva, M.; MacEdo, D.B.; Brito, V.N.; Abreu, A.P.; Roberts, S.A.; Montenegro, L.R.; Andrew, M.; Kirby, A.; Weirauch, M.T. et al.
Source: Self-asserted source
0000-0002-5505-0852 via Scopus - Elsevier

Pubertal development and regulation

The Lancet Diabetes and Endocrinology
2016 | Journal article
DOI: 10.1016/S2213-8587(15)00418-0
EID:

2-s2.0-84959521867
Contributors: Abreu, A.P.; Kaiser, U.B.
Source: Self-asserted source
0000-0002-5505-0852 via Scopus - Elsevier

Time course of central precocious puberty development caused by an MKRN3 gene mutation: A prismatic case

Hormone Research in Paediatrics
2016 | Journal article
DOI: 10.1159/000447515
EID:

2-s2.0-84978971360
Contributors: Stecchini, M.F.; Macedo, D.B.; Reis, A.C.S.; Abreu, A.P.; Moreira, A.C.; Castro, M.; Kaiser, U.B.; Latronico, A.C.; Antonini, S.R.
Source: Self-asserted source
0000-0002-5505-0852 via Scopus - Elsevier

A new pathway in the control of the initiation of puberty: The MKRN3 gene

Journal of Molecular Endocrinology
2015 | Journal article
DOI: 10.1530/JME-14-0315
EID:

2-s2.0-84953725482
Contributors: Abreu, A.P.; Macedo, D.B.; Brito, V.N.; Kaiser, U.B.; Latronico, A.C.
Source: Self-asserted source
0000-0002-5505-0852 via Scopus - Elsevier

FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies

Endocrine Connections
2015 | Journal article
DOI: 10.1530/EC-15-0015
EID:

2-s2.0-85003546656
Contributors: Correa, F.A.; Trarbach, E.B.; Tusset, C.; Latronico, A.C.; Montenegro, L.R.; Carvalho, L.R.; Franca, M.M.; Otto, A.P.; Costalonga, E.F.; Brito, V.N. et al.
Source: Self-asserted source
0000-0002-5505-0852 via Scopus - Elsevier

Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3

Journal of Clinical Endocrinology and Metabolism
2014 | Journal article
DOI: 10.1210/jc.2013-3126
EID:

2-s2.0-84902333304
Contributors: Macedo, D.B.; Abreu, A.P.; Reis, A.C.S.; Montenegro, L.R.; Dauber, A.; Beneduzzi, D.; Cukier, P.; Silveira, L.F.G.; Teles, M.G.; Carroll, R.S. et al.
Source: Self-asserted source
0000-0002-5505-0852 via Scopus - Elsevier

TACR3 mutations disrupt NK3R function through distinct mechanisms in GnRH-deficient patients

FASEB Journal
2014 | Journal article
DOI: 10.1096/fj.13-240630
EID:

2-s2.0-84901008986
Contributors: Noel, S.D.; Abreu, A.P.; Xu, S.; Muyide, T.; Gianetti, E.; Tusset, C.; Carroll, J.; Latronico, A.C.; Seminara, S.B.; Carroll, R.S. et al.
Source: Self-asserted source
0000-0002-5505-0852 via Scopus - Elsevier

Central precocious puberty caused by mutations in the imprinted gene MKRN3

New England Journal of Medicine
2013 | Journal article
DOI: 10.1056/NEJMoa1302160
EID:

2-s2.0-84879344554
Contributors: Abreu, A.P.; Dauber, A.; Macedo, D.B.; Noel, S.D.; Brito, V.N.; Gill, J.C.; Cukier, P.; Thompson, I.R.; Navarro, V.M.; Gagliardi, P.C. et al.
Source: Self-asserted source
0000-0002-5505-0852 via Scopus - Elsevier

An ancient founder mutation in PROKR2 impairs human reproduction

Human Molecular Genetics
2012 | Journal article
DOI: 10.1093/hmg/dds264
EID:

2-s2.0-84866428240
Contributors: Avbelj stefanija, M.; Jeanpierre, M.; Sykiotis, G.P.; Young, J.; Quinton, R.; Abreu, A.P.; Plummer, L.; Au, M.G.; Balasubramanian, R.; Dwyer, A.A. et al.
Source: Self-asserted source
0000-0002-5505-0852 via Scopus - Elsevier

Evidence of the importance of the first intracellular loop of prokineticin receptor 2 in receptor function

Molecular Endocrinology
2012 | Journal article
DOI: 10.1210/me.2012-1102
EID:

2-s2.0-84864477056
Contributors: Abreu, A.P.; Noel, S.D.; Xu, S.; Carroll, R.S.; Latronico, A.C.; Kaiser, U.B.
Source: Self-asserted source
0000-0002-5505-0852 via Scopus - Elsevier

Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency (Journal of Clinical Endocrinology and Metabolism (2010) 95, (3491-3496))

Journal of Clinical Endocrinology and Metabolism
2011 | Journal article
EID:

2-s2.0-79961224237
Contributors: Trarbach, E.B.; Abreu, A.P.; Silveira, L.F.G.; Garmes, H.M.; Baptista, M.T.M.; Teles, M.G.; Costa, E.M.F.; Mohammadi, M.; Pitteloud, N.; Mendonca, B.B. et al.
Source: Self-asserted source
0000-0002-5505-0852 via Scopus - Elsevier

Mutations of the KISS1 gene in disorders of puberty

Journal of Clinical Endocrinology and Metabolism
2010 | Journal article
DOI: 10.1210/jc.2009-2421
EID:

2-s2.0-77952776846
Contributors: Silveira, L.G.; Noel, S.D.; Silveira-Neto, A.P.; Abreu, A.P.; Brito, V.N.; Santos, M.G.; Bianco, S.D.C.; Kuohung, W.; Xu, S.; Gryngarten, M. et al.
Source: Self-asserted source
0000-0002-5505-0852 via Scopus - Elsevier

Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency

Journal of Clinical Endocrinology and Metabolism
2010 | Journal article
DOI: 10.1210/jc.2010-0176
EID:

2-s2.0-77954941835
Contributors: Trarbach, E.B.; Abreu, A.P.; Silveira, L.F.G.; Garmes, H.M.; Baptista, M.T.M.; Teles, M.G.; Costa, E.M.F.; Mohammadi, M.; Pitteloud, N.; Mendonca, B.B. et al.
Source: Self-asserted source
0000-0002-5505-0852 via Scopus - Elsevier

Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification: Detection of a hemizygosis for the fibroblast growth factor receptor 1

Clinical Endocrinology
2010 | Journal article
DOI: 10.1111/j.1365-2265.2009.03642.x
EID:

2-s2.0-76649143447
Contributors: Trarbach, E.B.; Teles, M.G.; Costa, E.M.F.; Abreu, A.P.; Garmes, H.M.; Guerra Jr., G.; Baptista, M.T.M.; De Castro, M.; Mendonca, B.B.; Latronico, A.C.
Source: Self-asserted source
0000-0002-5505-0852 via Scopus - Elsevier

TAC3/TACR3 mutations reveal preferential activation of gonadotropin- releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood

Journal of Clinical Endocrinology and Metabolism
2010 | Journal article
DOI: 10.1210/jc.2009-2320
EID:

2-s2.0-77954517193
Contributors: Gianetti, E.; Tusset, C.; Noel, S.D.; Au, M.G.; Dwyer, A.A.; Hughes, V.A.; Abreu, A.P.; Carroll, J.; Trarbach, E.; Silveira, L.F.G. et al.
Source: Self-asserted source
0000-0002-5505-0852 via Scopus - Elsevier

The role of prokineticins in the pathogenesis of hypogonadotropic hypogonadism

Neuroendocrinology
2010 | Journal article
DOI: 10.1159/000308880
EID:

2-s2.0-77952493999
Contributors: Abreu, A.P.; Kaiser, U.B.; Latronico, A.C.
Source: Self-asserted source
0000-0002-5505-0852 via Scopus - Elsevier

Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome

Journal of Clinical Endocrinology and Metabolism
2008 | Journal article
DOI: 10.1210/jc.2008-0958
EID:

2-s2.0-53749103334
Contributors: Abreu, A.P.; Trarbach, E.B.; De Castro, M.; Costa, E.M.F.; Versiani, B.; Baptista, M.T.M.; Garmes, H.M.; Mendonca, B.B.; Latronico, A.C.
Source: Self-asserted source
0000-0002-5505-0852 via Scopus - Elsevier

Peer review (9 reviews for 4 publications/grants)

Review activity for Genetics in medicine. (1)
Review activity for Journal of the Endocrine Society. (3)
Review activity for The Journal of Clinical Endocrinology & Metabolism (2)
Review activity for The journal of clinical endocrinology and metabolism. (3)
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