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

• Grant number: 13/02162-8
• Support Opportunities: Research Projects - Thematic Grants
• Start date: February 01, 2014
• End date: 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)

Scientific publications

(68)

(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)

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, MAY 2019. (13/03236-5, 15/26563-7, 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, AUG 2018. (13/02162-8, 13/03236-5)

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, OCT 23 2020. (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, JUL 2019. (13/02162-8)

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, OCT 2016. (13/02162-8)

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, 2017. (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, FEB 2018. (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, FEB 2018. (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, JAN 2019. (13/03236-5, 13/02162-8, 15/26563-7)

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+, AUG 2017. (13/02162-8, 13/06315-3, 13/07704-3)

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, FEB 2018. (13/03236-5, 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, JUN 25 2015. (13/02162-8, 11/07568-7, 04/12133-6, 13/06315-3)

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, FEB 2016. (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, JUN 2016. (13/02162-8)

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, MAR 2020. (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, DEC 2019. (17/14703-4, 13/19920-2, 17/15365-5, 15/05123-9, 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, AUG 2021. (13/02162-8, 14/27198-8, 15/20502-6)

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, AUG 20 2018. (13/02162-8, 13/19920-2)

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, DEC 2019. (05/04726-0, 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, 2017-10-00. (13/06315-3, 13/02162-8, 16/15652-1)

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, JAN 26 2017. (13/02162-8)

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, MAR 2018. (13/02162-8, 13/03236-5, 15/26563-7)

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, 2021-01-20. (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, JUN 18 2018. (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, AUG 2018. (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, 2015-10-00. (13/06315-3, 04/12133-6, 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, NOV 2017. (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, DEC 2016. (13/02162-8, 05/04726-0)

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, JAN 14 2021. (13/02162-8, 16/14695-9, 15/26328-8, 04/12133-6)

ELIAS, FELIPE MARTINS; NISHI, MIRIAN YUMI; PALMA SIRCILI, MARIA HELENA; BASTISTA, RAFAEL LOCH; GOMES, NATHALIA LISBOA; MARTINS FERRARI, MARIA TEREZA; FRADE COSTA, ELAINE MARIA; DENES, FRANCISCO TIBOR; MENDONCA, BERENICE BILHARINHO; DOMENICE, SORAHIA. Elevated plasma miR-210 expression is associated with atypical genitalia in patients with 46,XY differences in sex development. MOLECULAR GENETICS & GENOMIC MEDICINE, v. 10, n. 12, p. 12-pg., 2022-11-11. (13/02162-8, 05/04726-0, 18/02895-9)

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, APR 28 2021. (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 São Paulo. Clinics, v. 75, 2020-08-10. (13/02162-8)

GRIFFERO, MARIANA; FIGUEREDO BENEDETTI, ANNA FLAVIA; PEREZ, MARCELA; CARVALHO, LUCIANI; JORGE, ALEXANDER; LATRONICO, ANA CLAUDIA; MENDONCA, BERENICE; ARNHOLD, IVO; MERICQ, VERONICA. Novel OTX2 loss of function variant associated with congenital hypopituitarism without eye abnormalities. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, v. 35, n. 6, p. 5-pg., 2022-03-24. (13/03236-5, 15/26563-7, 13/02162-8)

GOMES, NATHALIA LISBOA; BATISTA, RAFAEL LOCH; NISHI, MIRIAN Y.; LERARIO, ANTONIO MARCONDES; SILVA, THATIANA E.; NARCIZO, AMANDA DE MORAES; FIGUEREDO BENEDETTI, ANNA FLAVIA; DE ASSIS FUNARI, MARIANA FERREIRA; FARIA JUNIOR, JOSE ANTONIO; MORAES, DANIELA RODRIGUES; et al. Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 107, n. 5, p. 10-pg., 2022-02-03. (13/02162-8, 05/04726-0)

MORETTI, I.; GALATRO, T.; OBA-SHINJO, S.; MARIE, S.. Toll-like receptor expressions in human astrocytomas. Glia, v. 65, p. 2-pg., 2017-06-01. (13/07704-3, 13/02162-8, 13/06315-3)

PEREIRA, BENEDITO JAMILSON ARAUJO; LERARIO, ANTONIO MARCONDES; SOLA, PAULA RODRIGUES; LAURENTINO, TALITA DE SOUSA; MOHAN, DIPIKA R.; ALMEIDA, ANTONIO NOGUEIRA DE; DE AGUIAR, PAULO HENRIQUE PIRES; PAIVA, WELLINGSON DA SILVA; WAKAMATSU, ALDA; TEIXEIRA, MANOEL JACOBSEN; et al. Impact of a cell cycle and an extracellular matrix remodeling transcriptional signature on tumor progression and correlation with EZH2 expression in meningioma. JOURNAL OF NEUROSURGERY, v. 138, n. 3, p. 14-pg., 2022-03-01. (20/02988-7, 13/02162-8, 04/12133-6)

DIAS, A. S.; DAMACENO-RODRIGUES, N. R.; GIMENEZ, T. M.; OLIVEIRA, P. M.; ZERBINI, M. C.; CARNEIRO-SAMPAIO, M.; FILHO, V. ODONE; JATENE, M. B.; VASCONCELOS, D. M.; ROCHA, V.; et al. A model for preservation of thymocyte-depleted thymus. Brazilian Journal of Medical and Biological Research, v. 56, p. 8-pg., 2023-01-01. (13/02162-8, 14/50489-9)

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, p. 13-pg., 2018-08-01. (13/02162-8, 13/03236-5)

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, JAN 2017. (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, MAR 1 2019. (15/03614-5, 15/03995-9, 04/12133-6, 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, 2017. (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, OCT 2016. (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, JAN 2019. (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, JUN 2017. (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, 2016-12-00. (13/02162-8)

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, AUG 2015. (13/02162-8)

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