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Berenice Bilharinho de Mendonça

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Universidade de São Paulo (USP). Faculdade de Medicina (FM)  (Institutional affiliation for the last research proposal)
Birthplace: Brazil

Graduated in Medicine from the Federal University of Triângulo Mineiro (1973), master's degree in Endocrinology and Metabology from the Faculty of Medicine of the University of São Paulo (1981) and doctorate in Endocrinology and Metabology from the Faculty of Medicine of the University of São Paulo (1984). She is Full Professor at the Department of Clinical Medicine, Endocrinology Area, Faculty of Medicine, University of São Paulo. She works as a clinical researcher in the area of development endocrinology, covering the clinical and molecular study of differences in sexual development, growth and puberty and in the area of hypo and adrenal hyperfunction with a focus on steroidogenesis and tumorigenesis. He is responsible for structuring and developing the Laboratory of Hormones and Molecular Genetics, LIM / 42 and the multi-user laboratories AE-06 - LCMS (chromatography / mass spectrometry) and Sequencing GEF-08 - SELA] Large-scale Sequencing Laboratory. She is currently a Senior Researcher at CNPq. He supervised 09 post-doctoral students, 26 doctoral theses, 07 master's degrees and 04 scientific initiation students and co-supervised 10 doctoral students. Currently, he has 3 Ph.D. orientations, a Master's degree and an ongoing Master's co-supervision. He published 545 papers in national and international journals that received a total number of 11475 citations, with H-index = 53, according to a survey conducted in the Web of Science database, research date: March 18, 2021; in the Google Scholar database it has 21349 citations and an H index of 75; in the Scopus database 14006 citations and H index of 61. ORCID: http: //orcid.org/0000-0003-1762-1084 - http://www.researcherid.com/rid/J-6917-2015 (Source: Lattes Curriculum)

Articles published in Pesquisa FAPESP Magazine about the researcher:
Uncertain boundaries 
Límites inciertos 
News published in Agência FAPESP Newsletter about the researcher
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VEICULO: TITULO (DATA)
VEICULO: TITULO (DATA)
Research grants
Scholarships in Brazil
FAPESP support in numbers * Updated November 27, 2021
Total / Available in English
23 / 9   Completed research grants
17 / 3   Completed scholarships in Brazil
1 / 0   Completed scholarships abroad
41 / 12   All research grants and scholarships

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Keywords used by the researcher
Scientific publications resulting from Research Grants and Scholarships under the grantee's responsibility (74)

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

Publications68
Citations432
Cit./Article6.4
Data from Web of Science

DE MELLO BIANCHI, PAULO HOMEM; CARVALHO ARAUJO GOUVEIA, GABRIELA ROMANENGHI FANTI; FRADE COSTA, ELAINE M.; DOMENICE, SORAHIA; MARTIN, REGINA M.; DE CARVALHO, LUCIANE CARNEIRO; PELAES, TATIANA; INACIO, MARLENE; CODARIN, RODRIGO ROCHA; SATOR DE FARIA, MARIA BEATRIZ; et al. Successful Live Birth in a Woman With 17 alpha-Hydroxylase Deficiency Through IVF Frozen-Thawed Embryo Transfer. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 101, n. 2, p. 345-348, . Web of Science Citations: 10. (13/02162-8)

DE CARVALHO, LUCIANE CARNEIRO; BRITO, VINICIUS NAHIME; MARTIN, REGINA MATSUNAGA; ZAMBONI, ALINE MACHADO; GOMES, LARISSA GARCIA; INACIO, MARLENE; MERMEJO, LIVIA MARA; COELI-LACCHINI, FERNANDA; TEIXEIRA, VIRGINIA RIBEIRO; GONCALVES, FABRICIA TORRES; et al. Clinical, hormonal, ovarian, and genetic aspects of 46,XX patients with congenital adrenal hyperplasia due to CYP17A1 defects. Fertility and Sterility, v. 105, n. 6, p. 1612-1619, . Web of Science Citations: 7. (13/02162-8)

DOMENICE, SORAHIA; MACHADO, ALINE ZAMBONI; FERREIRA, FREDERICO MORAES; FERRAZ-DE-SOUZA, BRUNO; LERARIO, ANTONIO MARCONDES; LIN, LIN; NISHI, MIRIAN YUMIE; GOMES, NATHALIA LISBOA; DA SILVA, THATIANA EVELIN; SILVA, ROSANA BARBOSA; et al. Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals. BIRTH DEFECTS RESEARCH PART C-EMBRYO TODAY-REVIEWS, v. 108, n. 4, p. 309-320, . Web of Science Citations: 12. (05/04726-0, 13/02162-8)

LIZE V. FERREIRA; SILVIA A.L. SOUZA; LUCIANA R. MONTENEGRO; IVO J.P. ARNHOLD; TITANIA PASQUALINI; JUAN JORGE HEINRICH; ANA CLAUDIA KESELMAN; BERENICE B. MENDONÇA; ALEXANDER A.L. JORGE. Variabilidade do fenótipo de pacientes com síndrome de Noonan com e sem mutações no gene PTPN11. Arquivos Brasileiros de Endocrinologia e Metabologia, v. 51, n. 3, p. 450-456, . (00/14092-4)

MACEDO, DELANIE B.; FRANCA, MONICA M.; MONTENEGRO, LUCIANA R.; CUNHA-SILVA, MARINA; BEST, DANIELLE S.; ABREU, ANA PAULA; KAISER, URSULA B.; MENDONCA, BERENICE B.; JORGE, ALEXANDER A. L.; BRITO, VINICIUS N.; et al. Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region. Neuroendocrinology, v. 107, n. 2, p. 127-132, . Web of Science Citations: 6. (13/03236-5, 13/06391-1)

BATISTA, RAFAEL L.; RODRIGUES, ANDRESA S.; NISHI, MIRIAN Y.; FEITOSA, ALINA C. R.; GOMES, NATHALIA L. R. A.; JUNIOR, JOSE ANTONIA F.; DOMENICE, SORAHIA; COSTA, ELAINE M. F.; DE MENDONCA, BERENICE B.. Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47, XXY Karyotype. SEXUAL DEVELOPMENT, v. 11, n. 2, p. 78-81, . Web of Science Citations: 4. (13/02162-8)

THAIS F GALATRO; PAULA SOLA; ISABELE F MORETTI; FLAVIO K MIURA; SUELI M OBA-SHINJO; SUELY KN MARIE; ANTONIO M LERARIO. Correlation between molecular features and genetic subtypes of Glioblastoma: critical analysis in 109 cases. MedicalExpress (São Paulo, online), v. 4, n. 5, p. -, . (16/15652-1, 13/06315-3, 13/02162-8)

NAKAGUMA, MARILENA; CORREA, FERNANDA A.; SANTANA, LUCAS S.; BENEDETTI, ANNA F. F.; PEREZ, V, RICARDO; HUAYLLAS, MARTHA K. P.; MIRAS, MIRTA B.; FUNARI, MARIANA F. A.; LERARIO, ANTONIO M.; MENDONCA, BERENICE B.; et al. Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR. ENDOCRINE CONNECTIONS, v. 8, n. 5, p. 590-595, . Web of Science Citations: 0. (13/03236-5, 15/26563-7, 13/02162-8)

BATISTA, RAFAEL LOCH; RODRIGUES, ANDRESA DI SANTI; NISHI, MIRIAN YUMIE; GOMES, NATHALIA LISBOA; DINIZ FARIA JUNIOR, JOSE ANTONIO; DE MORAES, DANIELA RODRIGUES; CARVALHO, LUCIANI RENATA; FRADE COSTA, ELAINE MARIA; DOMENICE, SORAHIA; MENDONCA, BERENICE BILHARINHO. A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome. JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY, v. 174, p. 14-16, . Web of Science Citations: 8. (13/02162-8)

CAETANO, L. A.; SANTANA, L. S.; COSTA-RIQUETTO, A. D.; LERARIO, A. M.; NERY, M.; NOGUEIRA, G. F.; ORTEGA, C. D.; ROCHA, M. S.; JORGE, A. A. L.; TELES, M. G.. PDX1-MODY and dorsal pancreatic agenesis: New phenotype of a rare disease. Clinical Genetics, v. 93, n. 2, p. 382-386, . Web of Science Citations: 3. (13/02162-8, 13/19920-2)

GALATRO, THAIS F.; HOLTMAN, INGE R.; LERARIO, ANTONIO M.; VAINCHTEIN, ILIA D.; BROUWER, NIESKE; SOLA, PAULA R.; VERAS, MARIANA M.; PEREIRA, TULIO F.; LEITE, RENATA E. P.; MOLLER, THOMAS; et al. Transcriptomic analysis of purified human cortical microglia reveals age-associated changes. NATURE NEUROSCIENCE, v. 20, n. 8, p. 1162+, . Web of Science Citations: 127. (13/06315-3, 13/07704-3, 13/02162-8)

LESSEL, DAVOR; GEHBAUER, CHRISTINA; BRAMSWIG, NURIA C.; SCHLUTH-BOLARD, CAROLINE; VENKATARAMANAPPA, SATHISH; VAN GASSEN, KOEN L. I.; HEMPEL, MAJA; HAACK, TOBIAS B.; BARESIC, ANJA; GENETTI, CASIE A.; et al. BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. BRAIN, v. 141, n. 8, p. 2299-2311, . Web of Science Citations: 6. (13/03236-5, 13/02162-8)

MONTENEGRO, JR., RENAN MAGALHAES; COSTA-RIQUETTO, ALINE DANTAS; FERNANDES, VIRGINIA OLIVEIRA; DIAS RANGEL MONTENEGRO, ANA PAULA; DE SANTANA, LUCAS SANTOS; DE LIMA JORGE, ALEXANDER AUGUSTO; DE AZEVEDO SOUZA KARBAGE, LIA BEATRIZ; AGUIAR, LINDENBERG BARBOSA; COSTA CARVALHO, FRANCISCO HERLANIO; TELES, MILENA GURGEL; et al. Homozygous and Heterozygous Nuclear Lamin A p.R582C Mutation: Different Lipodystrophic Phenotypes in the Same Kindred. FRONTIERS IN ENDOCRINOLOGY, v. 9, . Web of Science Citations: 2. (13/19920-2, 13/02162-8)

CUNHA, RENATO; ZAGO, MARCO A.; QUEROL, SERGIO; VOLT, FERNANDA; RUGGERI, ANNALISA; SANZ, GUILLERMO; POUTHIER, FABIENNE; KOGLER, GESINE; VICARIO, JOSE L.; BERGAMASCHI, PAOLA; et al. Impact of CTLA4 genotype and other immune response gene polymorphisms on outcomes after single umbilical cord blood transplantation. Blood, v. 129, n. 4, p. 525-532, . Web of Science Citations: 4. (13/02162-8)

VASQUES, GABRIELA A.; HISADO-OLIVA, ALFONSO; FUNARI, MARIANA F. A.; LERARIO, ANTONIO M.; QUEDAS, ELISANGELA P. S.; SOLBERG, PAULO; HEATH, KAREN E.; JORGE, ALEXANDER A. L.. Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, v. 30, n. 1, p. 111-116, . Web of Science Citations: 4. (13/03236-5)

MENDONCA, BERENICE B.; BATISTA, RAFAEL LOCH; DOMENICE, SORAHIA; COSTA, ELAINE M. F.; ARNHOLD, IVO J. P.; RUSSELL, DAVID W.; WILSON, JEAN D.. Steroid 5 alpha-reductase 2 deficiency. JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY, v. 163, p. 206-211, . Web of Science Citations: 21. (13/02162-8)

ISABELE FATTORI MORETTI; ROSELI SILVA; SUELI MIEKO OBA-SHINJO; PRISCILA OLIVEIRA DE CARVALHO; LAIS CAVALCA CARDOSO; ISAC DE CASTRO; SUELY KAZUE NAGAHASHI MARIE. The impact of interleukin-13 receptor expressions in cell migration of astrocytomas. MedicalExpress (São Paulo, online), v. 2, n. 5, . (04/12133-6, 13/02162-8, 13/06315-3)

CARVALHO, RAFAEL A.; URTREMARI, BETSAIDA; JORGE, ALEXANDER A. L.; SANTANA, LUCAS S.; QUEDAS, ELISANGELA P. S.; SEKIYA, TOMOKO; LONGUINI, VIVIANE C.; MONTENEGRO, FABIO L. M.; LERARIO, ANTONIO M.; TOLEDO, SERGIO P. A.; et al. Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing. EUROPEAN JOURNAL OF ENDOCRINOLOGY, v. 179, n. 6, p. 391-407, . Web of Science Citations: 3. (15/25444-4, 16/07504-2, 16/07965-0, 13/19810-2, 13/15388-4)

MORETTI, ISABELE FATTORI; FRANCO, DAIANE GIL; DE ALMEIDA GALATRO, THAIS FERNANDA; NAGAHASHI MARIE, SUELY KAZUE. Plasmatic membrane toll-like receptor expressions in human astrocytomas. PLoS One, v. 13, n. 6, . Web of Science Citations: 1. (13/06315-3, 16/14695-9, 13/02162-8)

GOMES, NATHALIA L.; LERARIO, ANTONIO MARCONDES; MACHADO, ALINE ZAMBONI; DE MORAES, DANIELA RODRIGUES; DA SILVA, THATIANA EVILEN; ARNHOLD, IVO J. P.; BATISTA, RAFAEL LOCH; DINIZ FARIA JUNIOR, JOSE ANTONIO; COSTA, ELAINE F.; NISHI, MIRIAN Y.; et al. Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis. CLINICAL ENDOCRINOLOGY, v. 89, n. 2, p. 164-177, . Web of Science Citations: 2. (13/02162-8)

FRANCA, MONICA M.; LERARIO, ANTONIO M.; FUNARI, MARIANA F. A.; NISHI, MIRIAN Y.; NARCIZO, AMANDA M.; DE MELLO, MARICILDA P.; GUERRA-JUNIOR, GIL; MACIEL-GUERRA, ANDREA T.; MENDONCA, BERENICE B.. A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family. SEXUAL DEVELOPMENT, v. 11, n. 3, p. 137-142, . Web of Science Citations: 8. (13/02162-8)

FUNARI, MARIANA F. A.; DE BARROS, JULIANA S.; SANTANA, LUCAS S.; LERARIO, ANTONIO M.; FREIRE, BRUNA L.; HOMMA, THAIS K.; VASQUES, GABRIELA A.; MENDONCA, BERENICE B.; NISHI, MIRIAN Y.; JORGE, ALEXANDER A. L.. Evaluation of SHOX defects in the era of next-generation sequencing. Clinical Genetics, v. 96, n. 3, . Web of Science Citations: 0. (13/03236-5)

CAVALCANTE, STELLA G.; SILVA, CLARISSE P. N.; SOLA, PAULA R.; TANAKA, LEONARDO Y.; OBA-SHINJO, SUELI M.; MARIE, SUELY K. N.. ATRX-DAXX Complex Expression Levels and Telomere Length in Normal Young and Elder Autopsy Human Brains. DNA AND CELL BIOLOGY, v. 38, n. 9, . Web of Science Citations: 0. (13/02162-8)

JOÃO LUIZ DE OLIVEIRA MADEIRA; LUCIANE ZGODA BUSSMANN; HELENA PANTELIOU LIMA-VALASSI; BERENICE BILHARINHO DE MENDONÇA. Análise de um radioimunoensaio iodado para determinação de 11-deoxicortisol. Arquivos Brasileiros de Endocrinologia e Metabologia, v. 58, n. 3, p. -, . (10/05188-0)

BATISTA, RAFAEL LOCH; RODRIGUES, ANDRESA DE SANTI; MACHADO, ALINE ZAMBONI; NISHI, MIRIAN YUMIE; CUNHA, FLAVIA SIQUEIRA; SILVA, ROSANA BARBOSA; COSTA, ELAINE M. F.; MENDONCA, BERENICE B.; DOMENICE, SORAHIA. Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, v. 31, n. 2, p. 223-228, . Web of Science Citations: 5. (13/02162-8)

MENDONCA, BERENICE B.; GOMES, NATHALIA LISBOA; COSTA, ELAINE M. F.; INACIO, MARLENE; MARTIN, REGINA M.; NISHI, MIRIAN Y.; CARVALHO, FILOMENA MARINO; TIBOR, FRANCISCO DENES; DOMENICE, SORAHIA. 46,XY disorder of sex development (DSD) due to 17 beta-hydroxysteroid dehydrogenase type 3 deficiency. JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY, v. 165, n. A, SI, p. 79-85, . Web of Science Citations: 15. (13/02162-8)

SHEKHOVTSOVA, ZHANNA; BONFIM, CARMEM; RUGGERI, ANNALISA; NICHELE, SAMANTHA; PAGE, KRISTIN; ALSERAIHY, AMAL; BARRIGA, FRANCISCO; DE TOLEDO CODINA, JOSE SANCHEZ; VEYS, PAUL; BOELENS, JAAP JAN; et al. A risk factor analysis of outcomes after unrelated cord blood transplantation for children with Wiskott-Aldrich syndrome. Haematologica, v. 102, n. 6, p. 1112-1119, . Web of Science Citations: 6. (13/02162-8)

DA SILVA, THATIANA EVILEN; GOMES, NATHALIA LISBOA; LERARIO, ANTONIO MARCONDES; KEEGAN, CATHERINE ELIZABETH; NISHI, MIRIAN YUMI; CARVALHO, FILOMENA MARINO; VILAIN, ERIC; BARSEGHYAN, HAYK; MARTINEZ-AGUAYO, ALEJANDRO; FORCLAZ, MARIA VERONICA; et al. Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 104, n. 12, p. 5923-5934, . Web of Science Citations: 2. (05/04726-0, 13/02162-8)

DE ALBUQUERQUE ALBUQUERQUE, EDOARDA VASCO; DE ASSIS FUNARI, MARIANA FERREIRA; DE SOUZA QUEDAS, ELISANGELA PEREIRA; HONJO KAWAHIRA, RACHEL SAYURI; JALLAD, RAQUEL SOARES; HOMMA, THAIS KATAOKA; MARTIN, REGINA MATSUNAGA; BRITO, VINICIUS NAHIME; MALAQUIAS, ALEXSANDRA CHRISTIANNE; LERARIO, ANTONIO MARCONDES; et al. Genetic investigation of patients with tall stature. EUROPEAN JOURNAL OF ENDOCRINOLOGY, v. 182, n. 2, p. 139-147, . Web of Science Citations: 0. (13/03236-5)

FERNANDES, A. M.; ROCHA-BRAZ, M. G. M.; FRANCA, M. M.; LERARIO, A. M.; SIMOES, V. R. F.; ZANARDO, E. A.; KULIKOWSKI, L. D.; MARTIN, R. M.; MENDONCA, B. B.; FERRAZ-DE-SOUZA, B.. The molecular landscape of osteogenesis imperfecta in a Brazilian tertiary service cohort. OSTEOPOROSIS INTERNATIONAL, v. 31, n. 7, . Web of Science Citations: 2. (11/12696-4, 13/02162-8)

VASQUES, GABRIELA A.; FUNARI, MARIANA F. A.; FERREIRA, FREDERICO M.; AZA-CARMONA, MIRIAM; SENTCHORDI-MONTANE, LUCIA; BARRAZA-GARCIA, JIMENA; LERARIO, ANTONIO M.; YAMAMOTO, GUILHERME L.; NASLAVSKY, MICHEL S.; DUARTE, YEDA A. O.; et al. IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 103, n. 2, p. 604-614, . Web of Science Citations: 13. (13/03236-5, 13/02162-8)

NAKAGUMA, MARILENA; JORGE, ALEXANDER A. L.; ARNHOLD, IVO J. P.. Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants. Genetics in Medicine, v. 21, n. 1, p. 260, . Web of Science Citations: 3. (13/02162-8, 13/03236-5, 15/26563-7)

ARAUJO PEREIRA, BENEDITO JAMILSON; DE SANTANA JUNIOR, PEDRO AUGUSTTO; DE ALMEIDA, ANTONIO NOGUEIRA; CAVALCANTE, STELLA GONCALVES; MARTINS DE MELO, KEYDE CRISTINA; PIRES DE AGUIAR, PAULO HENRIQUE; PAIVA, WELLINGSON DA SILVA; OBA-SHINJO, SUELI MIEKO; NAGAHASHI MARIE, SUELY KAZUE. Cyclin E1 expression and malignancy in meningiomas. CLINICAL NEUROLOGY AND NEUROSURGERY, v. 190, . Web of Science Citations: 0. (04/12133-6, 13/02162-8)

DE SANTANA, LUCAS S.; CAETANO, LILIAN A.; COSTA-RIQUETTO, ALINE D.; FRANCO, PEDRO C.; DOTTO, RENATA P.; REIS, ANDRE F.; WEINERT, LETICIA S.; SILVEIRO, SANDRA P.; VENDRAMINI, MARCIO F.; DO PRADO, FLAVIENE A.; et al. Targeted sequencing identifies novel variants in common and rare MODY genes. MOLECULAR GENETICS & GENOMIC MEDICINE, v. 7, n. 12, . Web of Science Citations: 0. (17/14703-4, 13/19920-2, 17/15365-5, 15/05123-9, 13/02162-8)

HOMMA, THAIS K.; FREIRE, BRUNA L.; HONJO, RACHEL; DAUBER, ANDREW; FUNARI, MARIANA F. A.; LERARIO, ANTONIO M.; ALBUQUERQUE, EDOARDA V. A.; VASQUES, GABRIELA A.; BERTOLA, DEBORA R.; KIM, CHONG A.; et al. Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature. Hormone Research in Paediatrics, v. 92, n. 2, p. 115-123, . Web of Science Citations: 0. (13/03236-5, 15/26980-7)

WISNIEWSKI, AMY B.; BATISTA, RAFAEL L.; COSTA, ELAINE M. F.; FINLAYSON, COURTNEY; PALMA SIRCILI, MARIA HELENA; DENES, FRANCISCO TIBOR; DOMENICE, SORAHIA; MENDONCA, BERENICE B.. Management of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Life. ENDOCRINE REVIEWS, v. 40, n. 6, p. 1547-1572, . Web of Science Citations: 0. (05/04726-0, 13/02162-8)

MORETTI, ISABELE F.; LERARIO, ANTONIO M.; TROMBETTA-LIMA, MARINA; SOLA, PAULA R.; SOARES, ROSELI DA SILVA; OBA-SHINJO, SUELI M.; MARIE, SUELY K. N.. Late p65 nuclear translocation in glioblastoma cells indicates non-canonical TLR4 signaling and activation of DNA repair genes. SCIENTIFIC REPORTS, v. 11, n. 1, . Web of Science Citations: 0. (13/02162-8, 16/14695-9, 15/26328-8, 04/12133-6)

FRANCA, MONICA M.; FUNARI, MARIANA F. A.; LERARIO, ANTONIO M.; SANTOS, MARIZA G.; NISHI, MIRIAN Y.; DOMENICE, SORAHIA; MORAES, DANIELA R.; COSTALONGA, EVERLAYNY F.; MACIEL, GUSTAVO A. R.; MACIEL-GUERRA, ANDREA T.; et al. Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency. PLoS One, v. 15, n. 10, . Web of Science Citations: 0. (13/02162-8)

WATANABE, ANDREIA; GUARAGNA, MARA SANCHES; SANTORO BELANGERO, VERA MARIA; SERAFIM CASIMIRO, FERNANDA MARIA; PESQUERO, JOAO BOSCO; FELTRAN, LUCIANA DE SANTIS; PEREIRA PALMA, LILIAN MONTEIRO; VARELA, PATRICIA; MIRANDA DE MENEZES NEVES, PRECIL DIEGO; LERARIO, ANTONIO MARCONDES; et al. APOL1 in an ethnically diverse pediatric population with nephrotic syndrome: implications in focal segmental glomerulosclerosis and other diagnoses. Pediatric Nephrology, v. 36, n. 8, SI, p. 2327-2336, . Web of Science Citations: 0. (13/02162-8, 14/27198-8, 15/20502-6)

WATANABE, ANDREIA; GUARAGNA, MARA SANCHES; SANTORO BELANGERO, VERA MARIA; SERAFIM CASIMIRO, FERNANDA MARIA; PESQUERO, JOAO BOSCO; FELTRAN, LUCIANA DE SANTIS; PEREIRA PALMA, LILIAN MONTEIRO; VARELA, PATRICIA; MIRANDA DE MENEZES NEVES, PRECIL DIEGO; LERARIO, ANTONIO MARCONDES; et al. APOL1 in an ethnically diverse pediatric population with nephrotic syndrome: implications in focal segmental glomerulosclerosis and other diagnoses. Pediatric Nephrology, v. 36, n. 8, SI, . Web of Science Citations: 0. (13/02162-8, 14/27198-8, 15/20502-6)

MOREIRA FRANCO, YOLLANDA E.; ALVES, MARIA JOSE; UNO, MIYUKI; MORETTI, ISABELE FATTORI; TROMBETTA-LIMA, MARINA; DE SIQUEIRA SANTOS, SUZANA; DOS SANTOS, ANCELY FERREIRA; ARINI, GABRIEL SANTOS; BAPTISTA, MAURICIO S.; LERARIO, ANTONIO MARCONDES; et al. Glutaminolysis dynamics during astrocytoma progression correlates with tumor aggressiveness. CANCER & METABOLISM, v. 9, n. 1, . Web of Science Citations: 0. (13/02162-8, 20/02988-7, 15/26328-8, 13/07937-8, 04/12133-6)

ANTONIO MARCONDES LERARIO; DIPIKA R. MOHAN; LUCIANA RIBEIRO MONTENEGRO; MARIANA FERREIRA DE ASSIS FUNARI; MIRIAN YUMIE NISHI; AMANDA DE MORAES NARCIZO; ANNA FLAVIA FIGUEREDO BENEDETTI; SUELI MIEKO OBA-SHINJO; AURÉLIO JOSÉ VITORINO; ROGÉRIO ALEXANDRE SCRIPNIC XAVIER DOS SANTOS; et al. SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in Sao Paulo. Clinics, v. 75, p. -, . Web of Science Citations: 0. (13/02162-8)

LUCIANA R. MONTENEGRO; ANTÔNIO M. LERÁRIO; MIRIAM Y. NISHI; ALEXANDER A.L. JORGE; BERENICE B. MENDONCA. Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development. Clinics, v. 76, p. -, . Web of Science Citations: 0. (13/02162-8)

MARQUES, JULIA HATAGAMI; BATISTA, RAFAEL LOCH; DE MORAES, MARIANA TEICHNER; MORAIS, BARBARA ALBUQUERQUE; GOMES PINTO, FERNANDO CAMPOS; ALMEIDA, MADSON Q.; ARAGAO, DENISE DE CASSIA; TEIXEIRA, MANOEL JACOBSEN; MENDONCA, BERENICE B.; CORDAS, TAKI ATHANASSIOS. Anorexia as the first clinical manifestation of von Hippel-Lindau syndrome. MOLECULAR AND CLINICAL ONCOLOGY, v. 13, n. 5, . Web of Science Citations: 0.

JOÃO LUIZ DE OLIVEIRA MADEIRA; LUCIANE ZGODA BUSSMANN; HELENA PANTELIOU LIMA-VALASSI; BERENICE BILHARINHO DE MENDONÇA. Análise de um radioimunoensaio iodado para determinação de 11-deoxicortisol. Arquivos Brasileiros de Endocrinologia e Metabologia, v. 58, n. 3, p. -, . (10/05188-0)

SANTOS, MARIZA G.; MACHADO, ALINE Z.; MARTINS, CONCEICAO N.; DOMENICE, SORAHIA; COSTA, ELAINE M. F.; NISHI, MIRIAN Y.; FERRAZ-DE-SOUZA, BRUNO; JORGE, SORAIA A. C.; PEREIRA, CARLOS A.; SOARDI, FERNANDA C.; et al. Homozygous Inactivating Mutation in NANOS3 in Two Sisters with Primary Ovarian Insufficiency. BIOMED RESEARCH INTERNATIONAL, . Web of Science Citations: 11. (05/04726-0)

ACHERMANN, JOHN C.; DOMENICE, SORAHIA; BACHEGA, TANIA A. S. S.; NISHI, MIRIAN Y.; MENDONCA, BERENICE B.. Disorders of sex development: effect of molecular diagnostics. NATURE REVIEWS ENDOCRINOLOGY, v. 11, n. 8, p. 478-488, . Web of Science Citations: 28. (13/02162-8)

FRANCA, MONICA M.; LERARIO, ANTONIO M.; FUNARI, MARIANA F. A.; NISHI, MIRIAN Y.; NARCIZO, AMANDA M.; DE MELLO, MARICILDA P.; GUERRA-JUNIOR, GIL; MACIEL-GUERRA, ANDREA T.; MENDONCA, BERENICE B.. A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family. SEXUAL DEVELOPMENT, v. 11, n. 3, p. 137-142, . Web of Science Citations: 8. (13/02162-8)

SOARES COSTA, MARCIA HELENA; DOMENICE, SORAHIA; TOLEDO, RODRIGO ALMEIDA; JUNIOR, DELMAR MUNIZ L.; LATRONICO, ANA CLAUDIA; PINTO, EMILIA MODOLO; ALMEIDA TOLEDO, SERGIO PEREIRA; MENDONCA, BERENICE BILHARINHO; BARISSON VILLARES FRAGOSO, MARIA CANDIDA. Glucose-dependent insulinotropic peptide receptor overexpression in adrenocortical hyperplasia in MEN1 syndrome without loss of heterozygosity at the 11q13 locus. Clinics, v. 66, n. 4, p. 529-533, . Web of Science Citations: 6.

NISHI, MIRIAN YUMIE; DOMENICE, SORAHIA; MACIEL-GUERRA, ANDREA TREVAS; ZABA NETO, ALBERTO; CAVALARO PEREIRA DA SILVA, MARCIA ALESSANDRA; FRADE COSTA, ELAINE MARIA; GUERRA-JUNIOR, GIL; DE MENDONCA, BERENICE BILHARINHO. Analysis of anti-Mullerian hormone (AMH) and its receptor (AMHR2) genes in patients with persistent Mullerian duct syndrome. Arquivos Brasileiros de Endocrinologia e Metabologia, v. 56, n. 8, SI, p. 473-478, . Web of Science Citations: 11.

FRANCO, DAIANE G.; MORETTI, ISABELE F.; MARIE, SUELY K. N.. Mitochondria Transcription Factor A: A Putative Target for the Effect of Melatonin on U87MG Malignant Glioma Cell Line. Molecules, v. 23, n. 5, . Web of Science Citations: 7. (04/12133-6, 13/02162-8, 14/17220-6)

FERNANDES, A. M.; ROCHA-BRAZ, M. G. M.; FRANCA, M. M.; LERARIO, A. M.; SIMOES, V. R. F.; ZANARDO, E. A.; KULIKOWSKI, L. D.; MARTIN, R. M.; MENDONCA, B. B.; FERRAZ-DE-SOUZA, B.. The molecular landscape of osteogenesis imperfecta in a Brazilian tertiary service cohort. OSTEOPOROSIS INTERNATIONAL, v. 31, n. 7, . Web of Science Citations: 2. (13/02162-8, 11/12696-4)

FRANCA, MONICA MALHEIROS; MENDONCA, BERENICE BILHARINHO. Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era. JOURNAL OF THE ENDOCRINE SOCIETY, v. 4, n. 2, . Web of Science Citations: 0. (13/02162-8)

FELTRAN, LUCIANA S.; WATANABE, ANDREIA; GUARAGNA, MARA S.; MACHADO, IVAN C.; CASIMIRO, FERNANDA M. S.; NEVES, PRECIL D. M. M.; PALMA, LILIAN M.; VARELA, PATRICIA; VAISBICH, MARIA H.; MARIE, SUELY K. N.; et al. Brazilian Network of Pediatric Nephrotic Syndrome (REBRASNI). KIDNEY INTERNATIONAL REPORTS, v. 5, n. 3, p. 358-362, . Web of Science Citations: 0. (14/27198-8, 13/02162-8)

ROCHA, VANDERSON. Umbilical cord blood cells from unrelated donor as an alternative source of hematopoietic stem cells for transplantation in children and adults. SEMINARS IN HEMATOLOGY, v. 53, n. 4, p. 237-245, . Web of Science Citations: 6. (13/02162-8)

MADEIRA, JOAO L. O.; JORGE, ALEXANDER A. L.; MARTIN, REGINA M.; MONTENEGRO, LUCIANA R.; FRANCA, MARCELA M.; COSTALONGA, EVERLAYNY F.; CORREA, FERNANDA A.; OTTO, ALINE P.; ARNHOLD, IVO J. P.; FREITAS, HELAYNE S.; et al. A homozygous point mutation in the GH1 promoter (c.-223C > T) leads to reduced GH1 expression in siblings with isolated GH deficiency (IGHD). EUROPEAN JOURNAL OF ENDOCRINOLOGY, v. 175, n. 2, p. K7-K15, . Web of Science Citations: 2. (10/05188-0, 13/03236-5)

BATISTA, RAFAEL LOCH; RODRIGUES, ANDRESA DE SANTI; MACHADO, ALINE ZAMBONI; NISHI, MIRIAN YUMIE; CUNHA, FLAVIA SIQUEIRA; SILVA, ROSANA BARBOSA; COSTA, ELAINE M. F.; MENDONCA, BERENICE B.; DOMENICE, SORAHIA. Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, v. 31, n. 2, p. 223-228, . Web of Science Citations: 5. (13/02162-8)

SHEKHOVTSOVA, ZHANNA; BONFIM, CARMEM; RUGGERI, ANNALISA; NICHELE, SAMANTHA; PAGE, KRISTIN; ALSERAIHY, AMAL; BARRIGA, FRANCISCO; DE TOLEDO CODINA, JOSE SANCHEZ; VEYS, PAUL; BOELENS, JAAP JAN; et al. A risk factor analysis of outcomes after unrelated cord blood transplantation for children with Wiskott-Aldrich syndrome. Haematologica, v. 102, n. 6, p. 1112-1119, . Web of Science Citations: 6. (13/02162-8)

MENDONCA, BERENICE B.; GOMES, NATHALIA LISBOA; COSTA, ELAINE M. F.; INACIO, MARLENE; MARTIN, REGINA M.; NISHI, MIRIAN Y.; CARVALHO, FILOMENA MARINO; TIBOR, FRANCISCO DENES; DOMENICE, SORAHIA. 46,XY disorder of sex development (DSD) due to 17 beta-hydroxysteroid dehydrogenase type 3 deficiency. JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY, v. 165, n. A, SI, p. 79-85, . Web of Science Citations: 15. (13/02162-8)

FERNANDA DE OLIVEIRA SERACHI; SUELY KAZUE NAGAHASHI MARIE; SUELI MIEKO OBA-SHINJO. Relevant coexpression of STMN1, MELK and FOXM1 in glioblastoma and review of the impact of STMN1 in cancer biology. MedicalExpress (São Paulo, online), v. 4, n. 5, p. -, . (13/02162-8, 15/03614-5)

BATISTA, RAFAEL LOCH; RODRIGUES, ANDRESA DE SANTI; MACHADO, ALINE ZAMBONI; NISHI, MIRIAN YUMIE; CUNHA, FLAVIA SIQUEIRA; SILVA, ROSANA BARBOSA; COSTA, ELAINE M. F.; MENDONCA, BERENICE B.; DOMENICE, SORAHIA. Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, v. 31, n. 2, p. 223-228, . Web of Science Citations: 5. (13/02162-8)

SHEKHOVTSOVA, ZHANNA; BONFIM, CARMEM; RUGGERI, ANNALISA; NICHELE, SAMANTHA; PAGE, KRISTIN; ALSERAIHY, AMAL; BARRIGA, FRANCISCO; DE TOLEDO CODINA, JOSE SANCHEZ; VEYS, PAUL; BOELENS, JAAP JAN; et al. A risk factor analysis of outcomes after unrelated cord blood transplantation for children with Wiskott-Aldrich syndrome. Haematologica, v. 102, n. 6, p. 1112-1119, . Web of Science Citations: 6. (13/02162-8)

MENDONCA, BERENICE B.; GOMES, NATHALIA LISBOA; COSTA, ELAINE M. F.; INACIO, MARLENE; MARTIN, REGINA M.; NISHI, MIRIAN Y.; CARVALHO, FILOMENA MARINO; TIBOR, FRANCISCO DENES; DOMENICE, SORAHIA. 46,XY disorder of sex development (DSD) due to 17 beta-hydroxysteroid dehydrogenase type 3 deficiency. JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY, v. 165, n. A, SI, p. 79-85, . Web of Science Citations: 15. (13/02162-8)

FERNANDA DE OLIVEIRA SERACHI; SUELY KAZUE NAGAHASHI MARIE; SUELI MIEKO OBA-SHINJO. Relevant coexpression of STMN1, MELK and FOXM1 in glioblastoma and review of the impact of STMN1 in cancer biology. MedicalExpress (São Paulo, online), v. 4, n. 5, p. -, . (13/02162-8, 15/03614-5)

GOMES, NATHALIA L.; DE PAULA, LEILA C. P.; SILVA, JULIANA M.; SILVA, THATIANA E.; LERARIO, ANTONIO M.; NISHI, MIRIAN Y.; BATISTA, RAFAEL L.; FARIA JUNIOR, JOSE A. D.; MORAES, DANIELA; COSTA, ELAINE M. F.; et al. A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor-1 (WT1) pathogenic variant. Clinical Genetics, v. 95, n. 1, p. 172-176, . Web of Science Citations: 3. (13/02162-8)

CARDOSO, LAIS C.; SOARES, ROSELI DA S.; LAURENTINO, TALITA DE S.; LERARIO, ANTONIO M.; MARIE, SUELY K. N.; OBA-SHINJO, SUELI MIEKO. CD99 Expression in Glioblastoma Molecular Subtypes and Role in Migration and Invasion. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, v. 20, n. 5, . Web of Science Citations: 0. (15/03614-5, 15/03995-9, 04/12133-6, 13/02162-8)

DA SILVA, THATIANA EVILEN; GOMES, NATHALIA LISBOA; LERARIO, ANTONIO MARCONDES; KEEGAN, CATHERINE ELIZABETH; NISHI, MIRIAN YUMI; CARVALHO, FILOMENA MARINO; VILAIN, ERIC; BARSEGHYAN, HAYK; MARTINEZ-AGUAYO, ALEJANDRO; FORCLAZ, MARIA VERONICA; et al. Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 104, n. 12, p. 5923-5934, . Web of Science Citations: 2. (05/04726-0, 13/02162-8)

NAKAGUMA, MARILENA; BIANCHI PEREIRA FERREIRA, NATHALIA GARCIA; FIGUEREDO BENEDETTI, ANNA FLAVIA; MADI, MARIANA COTARELLI; SILVA, JULIANA MOREIRA; LI, JUN Z.; MA, QIANYI; OZEL, AYSE BILGE; FANG, QING; NARCIZO, AMANDA DE MORAES; et al. Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum. GENES, v. 12, n. 8, . Web of Science Citations: 0. (15/26563-7, 13/03236-5, 13/02162-8)

DE ALBUQUERQUE ALBUQUERQUE, EDOARDA VASCO; DE ASSIS FUNARI, MARIANA FERREIRA; DE SOUZA QUEDAS, ELISANGELA PEREIRA; HONJO KAWAHIRA, RACHEL SAYURI; JALLAD, RAQUEL SOARES; HOMMA, THAIS KATAOKA; MARTIN, REGINA MATSUNAGA; BRITO, VINICIUS NAHIME; MALAQUIAS, ALEXSANDRA CHRISTIANNE; LERARIO, ANTONIO MARCONDES; et al. Genetic investigation of patients with tall stature. EUROPEAN JOURNAL OF ENDOCRINOLOGY, v. 182, n. 2, p. 139-147, . Web of Science Citations: 0. (13/03236-5)

BATISTA, RAFAEL LOCH; INACIO, MARLENE; PRADO ARNHOLD, IVO JORGE; GOMES, NATHALIA LISBOA; DINIZ FARIA, JR., JOSE ANTONIO; DE MORAES, DANIELA RODRIGUES; FRADE COSTA, ELAINE MARIA; DOMENICE, SORAHIA; MENDONCA, BERENICE BILHARINHO. Psychosexual Aspects, Effects of Prenatal Androgen Exposure, and Gender Change in 46,XY Disorders of Sex Development. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 104, n. 4, p. 1160-1170, . Web of Science Citations: 1. (13/02162-8)

FRANCA, MONICA MALHEIROS; MENDONCA, BERENICE BILHARINHO. Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era. JOURNAL OF THE ENDOCRINE SOCIETY, v. 4, n. 2, . Web of Science Citations: 0. (13/02162-8)

FELTRAN, LUCIANA S.; WATANABE, ANDREIA; GUARAGNA, MARA S.; MACHADO, IVAN C.; CASIMIRO, FERNANDA M. S.; NEVES, PRECIL D. M. M.; PALMA, LILIAN M.; VARELA, PATRICIA; VAISBICH, MARIA H.; MARIE, SUELY K. N.; et al. Brazilian Network of Pediatric Nephrotic Syndrome (REBRASNI). KIDNEY INTERNATIONAL REPORTS, v. 5, n. 3, p. 358-362, . Web of Science Citations: 0. (14/27198-8, 13/02162-8)

SANTOS, MARIZA G.; MACHADO, ALINE Z.; MARTINS, CONCEICAO N.; DOMENICE, SORAHIA; COSTA, ELAINE M. F.; NISHI, MIRIAN Y.; FERRAZ-DE-SOUZA, BRUNO; JORGE, SORAIA A. C.; PEREIRA, CARLOS A.; SOARDI, FERNANDA C.; et al. Homozygous Inactivating Mutation in NANOS3 in Two Sisters with Primary Ovarian Insufficiency. BIOMED RESEARCH INTERNATIONAL, . Web of Science Citations: 11. (05/04726-0)

Academic Publications

(References retrieved automatically from State of São Paulo Research Institutions)

SANTOS, Mariza Augusta Gerdulo dos. Pesquisa de mutações em genes envolvidos na diferenciação e manutenção das células germinativas em pacientes portadores de distúrbio do desenvolvimento gonadal 46,XX. Tese (Doutorado) -  Faculdade de Medicina.  Universidade de São Paulo (USP).  São Paulo.  (07/51215-6

VERDUGUEZ, Elisa Del Rosario Ugarte. Aspectos da psicossexualidade e da personalidade de pacientes autodenominados transexuais masculinos e femininos avaliados pelo teste projetivo de Szondi. Dissertação (Mestrado) -  Faculdade de Medicina.  Universidade de São Paulo (USP).  São Paulo.  (07/51505-4

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