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Molecular pathogenesis and characterization of monogenic developmental diseases: a route to translational medicine

Grant number: 13/02162-8
Support Opportunities:Research Projects - Thematic Grants
Duration: February 01, 2014 - April 30, 2019
Field of knowledge:Health Sciences - Medicine - Medical Clinics
Principal Investigator:Berenice Bilharinho de Mendonça
Grantee:Berenice Bilharinho de Mendonça
Host Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil
Pesquisadores principais:
( Últimos )
Luiz Fernando Onuchic ; Suely Kazue Nagahashi Marie ; Vanderson Geraldo Rocha
Pesquisadores principais:
( Antigos )
Magda Maria Sales Carneiro-Sampaio
Associated researchers:Alexander Augusto de Lima Jorge ; Ana Claudia Latronico Xavier ; Antonio Marcondes Lerario ; Christian Albert Merkel ; Elaine Maria Frade Costa ; Estela Maria Novak ; Letícia Ferreira Gontijo Silveira ; Mirian Yumie Nishi ; Sorahia Domenice ; Sueli Mieko Oba Shinjo
Associated scholarship(s):16/13383-3 - Analysis of epigenetic mechanisms involved in brain development, degeneration and senescence using the next-generation sequencing (NGS), BP.PD
15/21948-8 - Molecular pathogenesis and characterization of monogenic developmental diseases: a route to Translational Medicine, BP.DD
15/10163-0 - Optimization of glioma lines mitochondrial isolation, BP.IC
+ associated scholarships 14/17220-6 - Melatonin effects on glial tumors mitochondrial activity, BP.PD
14/12413-0 - Molecular analysis of patients with primary ovarian failure, BP.PD
14/05076-8 - Analysis of mitochondrial DNA copy number variation in cases of mitochondrial disorders in accordance to the respective type of mutation, BP.IC - associated scholarships

Abstract

Recent studies and accomplishments on monogenic diseases have served not only to alleviate the dilemma of patients with these disorders, but also have yielded valuable information on biological processes relevant to other more common conditions. However, few centers are prepared to diagnose, follow up, and investigate monogenic developmental diseases in Brazil, the largest Latin American country. The aims of our proposal are to establish large cohorts of phenotypically well-characterized patients and promote long-term follow-ups, as well as to develop a center in which new molecular techniques will allow the generation of massive, faster, more accurate and integrated genetic data, leading to the discovery of novel disease-associated genes and genetic modifiers. Moreover, this strategy will expand and optimize cost effectiveness and shorten the time for molecular diagnosis, promoting dissemination and broadening of molecular-genetic knowledge and diagnosis in medical practice. In addition, using sophisticated in vitro and in vivo genetic-based models, we plan to develop robust platforms for the elucidation of monogenic disease pathogenesis and for the identification of potentially novel therapeutic interventions. (AU)

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Scientific publications (55)
(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)
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, . (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, . (13/03236-5, 13/02162-8, 15/26563-7)
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, . (13/02162-8)
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, . (13/02162-8, 16/14695-9, 13/06315-3)
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, . (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. O IMPACTO DA EXPRESSÃO DOS RECEPTORES DE INTERLEUCINA-13 NA MIGRAÇÃO CELULAR EM ASTROCITOMAS. MedicalExpress (São Paulo, online), v. 2, n. 5, . (04/12133-6, 13/02162-8, 13/06315-3)
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, . (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, . (13/02162-8)
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+, . (13/02162-8, 13/06315-3, 13/07704-3)
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, . (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, . (13/02162-8)
GIMENEZ, MARCELA; NAGAHASHI MARIE, SUELY KAZUE; OBA-SHINJO, SUELI; UNO, MIYUKI; IZUMI, CLARICE; OLIVEIRA, JOAO BOSCO; ROSA, JOSE CESAR. Quantitative proteomic analysis shows differentially expressed HSPB1 in glioblastoma as a discriminating short from long survival factor and NOVA1 as a differentiation factor between low-grade astrocytoma and oligodendroglioma. BMC CANCER, v. 15, . (13/02162-8, 11/07568-7, 04/12133-6, 13/06315-3)
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, . (13/03236-5, 15/26563-7, 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, . (13/02162-8, 13/19920-2)
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, . (13/02162-8, 20/02988-7, 15/26328-8, 13/07937-8, 04/12133-6)
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, . (04/12133-6, 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, . (13/02162-8)
THAIS F GALATRO; PAULA SOLA; ISABELE F MORETTI; FLAVIO K MIURA; SUELI M OBA-SHINJO; SUELY KN MARIE; ANTONIO M LERARIO. Correlação entre as características moleculares e os subtipos genéticos dos glioblastomas: análise crítica de 109 casos. MedicalExpress (São Paulo, online), v. 4, n. 5, . (13/02162-8, 13/06315-3, 16/15652-1)
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 São Paulo. Clinics, v. 75, . (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, . (13/03236-5, 13/02162-8)
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, . (05/04726-0, 13/02162-8)
FRANCA, MONICA M.; HAN, XINGFA; FUNARI, MARIANA F. A.; LERARIO, ANTONIO M.; NISHI, MIRIAN Y.; FONTENELE, EVELINE G. P.; DOMENICE, SORAHIA; JORGE, ALEXANDER A. L.; GARCIA-GALIANO, DAVID; ELIAS, CAROL F.; et al. Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 104, n. 7, p. 2827-2841, . (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, . (13/02162-8, 13/19920-2)
FRANCA, M. M.; FUNARI, M. F. A.; NISHI, M. Y.; NARCIZO, A. M.; DOMENICE, S.; COSTA, E. M. F.; LERARIO, A. M.; MENDONCA, B. B.. Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing. Clinical Genetics, v. 93, n. 2, p. 408-411, . (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, . (17/14703-4, 13/19920-2, 17/15365-5, 15/05123-9, 13/02162-8)
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, . (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, . (13/02162-8, 14/27198-8, 15/20502-6)
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, . (13/02162-8, 13/03236-5)
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, . (13/02162-8, 05/04726-0)
CORREA, FERNANDA A.; JORGE, ALEXANDER A. L.; NAKAGUMA, MARILENA; CANTON, ANA P. M.; COSTA, SILVIA S.; FUNARI, MARIANA F.; LERARIO, ANTONIO M.; FRANCA, MARCELA M.; CARVALHO, LUCIANI R.; KREPISCHI, ANA C. V.; et al. Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes. CLINICAL ENDOCRINOLOGY, v. 88, n. 3, p. 425-431, . (13/02162-8, 13/03236-5, 15/26563-7)
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, . (13/02162-8, 16/14695-9, 15/26328-8, 04/12133-6)
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, . (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, . (13/02162-8)
BRAIAN LUCAS A. SOUSA; MIRIAN YUMIE NISHI; MARIZA GERDULO SANTOS; VINICIUS NAHIME BRITO; SORAHIA DOMENICE; BERENICE B. MENDONCA. Mutation analysis of NANOS3 in Brazilian women with primary ovarian failure. Clinics, v. 71, n. 12, p. 695-698, . (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, . (15/26563-7, 13/03236-5, 13/02162-8)
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, . (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, . (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, . (14/27198-8, 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, . (13/02162-8)
FREIRE, BRUNA L.; HOMMA, THAIS K.; FUNARI, MARIANA F. A.; LERARIO, ANTONIO M.; LEAL, ALINE M.; VELLOSO, ELVIRA D. R. P.; MALAQUIAS, ALEXSANDRA C.; JORGE, ALEXANDER A. L.. Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients. EUROPEAN JOURNAL OF MEDICAL GENETICS, v. 61, n. 3, p. 130-133, . (13/02162-8, 15/26980-7, 13/03236-5)
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, . (13/02162-8, 14/17220-6, 04/12133-6)
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, . (13/02162-8, 05/04726-0)
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, . (13/02162-8)
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, . (13/02162-8)
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, . (13/02162-8)
VEIGA CRUZEIRO, GUSTAVO ALENCASTRO; SALOMAO, KARINA BEZERRA; OLIVEIRA DE BIAGI, JR., CARLOS ALBERTO; BAUMGARTNER, MARTIN; STURM, DOMINIK; PEIXOTO LIRA, REGIA CAROLINE; MAGALHAES, TACIANI DE ALMEIDA; MILAN, MIRELLA BARONI; SILVEIRA, VANESSA DA SILVA; SAGGIORO, FABIANO PINTO; et al. A simplified approach using Taqman low-density array for medulloblastoma subgrouping. ACTA NEUROPATHOLOGICA COMMUNICATIONS, v. 7, . (13/12006-3, 14/20341-0, 14/19976-0, 04/12133-6, 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, . (15/03614-5, 15/03995-9, 04/12133-6, 13/02162-8)
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