Patogênese molecular e caracterização de doenças monogênicas do desenvolvimento: um caminho para a medicina translacional

• Processo: 13/02162-8
• Modalidade de apoio: Auxílio à Pesquisa - Temático
• Data de Início da vigência: 01 de fevereiro de 2014
• Data de Término da vigência: 30 de abril de 2019
• Área do conhecimento: Ciências da Saúde - Medicina - Clínica Médica
• Pesquisador responsável: Berenice Bilharinho de Mendonça
• Beneficiário: Berenice Bilharinho de Mendonça
• Instituição Sede: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brasil
• Município da Instituição Sede: São Paulo
• Pesquisadores principais:( Últimos ): Luiz Fernando Onuchic ; Suely Kazue Nagahashi Marie ; Vanderson Geraldo Rocha
• Pesquisadores principais:( Antigos ): Magda Maria Sales Carneiro-Sampaio
• Pesquisadores associados: 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
• Auxílio(s) vinculado(s): 14/50137-5 - Caracterização molecular de doenças monogênicas do desenvolvimento por sequenciamento em larga escala, AP.EMU
• Bolsa(s) vinculada(s): 16/13383-3 - Análise dos mecanismos epigenéticos envolvidos no desenvolvimento, degeneração e senescência cerebral pelo uso do sequenciamento de nova geração (NGS), BP.PD; 15/21948-8 - Patogênese molecular e caracterização de doenças monogênicas do desenvolvimento: um caminho para a Medicina translacional, BP.DD; 15/10163-0 - Otimização do isolamento mitocondrial de linhagens de glioma, BP.IC; + mais bolsas vinculadas 14/17220-6 - Efeitos da melatonina na atividade mitocondrial de tumores gliais, BP.PD; 14/12413-0 - Análise molecular de pacientes com falência ovariana primária, BP.PD; 14/05076-8 - Análise da variação do número de cópias do DNA mitocondrial em casos de mitocondriopatias de acordo com o respectivo tipo de mutação, BP.IC - menos bolsas vinculadas
• Assunto(s): Biologia do desenvolvimento Engenharia genética Genética molecular Genomas
• Palavra(s)-Chave do Pesquisador: Developmental Biology | Genetic engeneering | Genome and exome | Genotype-phenotype correlation | Molecular Genetics | Monogenic diseases | endocrinologia, neurologia, nefrologia, imunologia

Resumo

Os recentes avanços no conhecimento das doenças monogênicas do desenvolvimento têm servido não apenas para o tratamento de pacientes, mas também para gerar informações valiosas sobre processos biológicos relevantes para outras doenças mais prevalentes. No entanto, poucos centros estão preparados para diagnosticar, acompanhar e investigar doenças monogênicas associadas ao desenvolvimento no Brasil, o maior país da América Latina. Nossa proposta tem como objetivos estabelecer grandes coortes de pacientes fenotipicamente bem caracterizados e promover seu seguimento a longo prazo, assim como desenvolver um centro no qual novas metodologias moleculares permitirão a geração de informações genéticas moleculares integradas, mais precisas, mais rápidas e em larga escala, capazes de amparar a identificação de novos genes associados a doenças e loci modificadores. Esta estratégia irá expandir e otimizar, além disso, o custo e o tempo do diagnóstico molecular, promovendo disseminação e ampliação do conhecimento e do diagnóstico genético de doenças monogênicas na prática médica. Por fim, utilizando sofisticados modelos in vitro e in vivo geneticamente modificados, pretendemos desenvolver plataformas robustas para a elucidação da patogênese dessas doenças e identificação de novas intervenções terapêuticas potenciais. (AU)

Publicações científicas

(71)

(Referências obtidas automaticamente do Web of Science e do SciELO, por meio da informação sobre o financiamento pela FAPESP e o número do processo correspondente, incluída na publicação pelos autores)

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. (01/12898-4, 15/03614-5, 15/03995-9, 04/12133-6, 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)

BATISTA, RAFAEL LOCH; FRADE COSTA, ELAINE M.; RODRIGUES, ANDRESA DE SANTI; GOMES, NATHALIA LISBOA; FARIA, JR., JOSE ANTONIO; NISHI, MIRIAN Y.; PRADO ARNHOLD, IVO JORGE; DOMENICE, SORAHIA; DE MENDONCA, BERENICE BILHARINHO. Androgen insensitivity syndrome: a review. ARCHIVES OF ENDOCRINOLOGY METABOLISM, v. 62, n. 2, p. 227-235, MAR-APR 2018. (13/02162-8, 14/50137-5)

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, FEB 2018. (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, APR 2019. (13/02162-8, 14/50137-5)

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, MAR 2020. (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, FEB 2020. (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, MAR 2020. (14/27198-8, 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, MAR 2018. (13/02162-8, 15/26980-7, 13/03236-5)

IMAGAWA, ERI; ALBUQUERQUE, EDOARDA V. A.; ISIDOR, BERTRAND; MITSUHASHI, SATOMI; MIZUGUCHI, TAKESHI; MIYATAKE, SATOKO; TAKATA, ATSUSHI; MIYAKE, NORIKO; BOGUSZEWSKI, MARGARET C. S.; BOGUSZEWSKI, CESAR L.; et al. Novel SUZ12 mutations in Weaver-like syndrome. Clinical Genetics, v. 94, n. 5, p. 461-466, NOV 2018. (13/03236-5, 13/02162-8)

FRANCA, MONICA M.; FUNARI, MARIANA F. A.; LERARIO, ANTONIO M.; NISHI, MIRIAN Y.; PITA, CARMEM C.; FONTENELE, EVELINE G. P.; MENDONCA, BERENICE B.. A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure. ENDOCRINE, v. 58, n. 3, p. 442-447, DEC 2017. (13/02162-8, 14/50137-5)

FERNANDA DE OLIVEIRA SERACHI; SUELY KAZUE NAGAHASHI MARIE; SUELI MIEKO OBA-SHINJO. Coexpressão relevante de STMN1, MELK e FOXM1 em glioblastoma e revisão do impacto de stmn1 na biologia do câncer. MedicalExpress (São Paulo, online), v. 4, n. 5, 2017-10-00. (13/02162-8, 15/03614-5)

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, JULY 2019. (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, DEC 2019. (13/02162-8, 10/51102-0, 07/51215-6, 14/50137-5, 05/04726-0)

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)

SOUSA, BRAIAN LUCAS A.; NISHI, MIRIAN YUMIE; SANTOS, MARIZA GERDULO; BRITO, VINICIUS NAHIME; DOMENICE, SORAHIA; MENDONCA, BERENICE B.. Mutation analysis of NANOS3 in Brazilian women with primary ovarian failure. Clinics, v. 71, n. 12, p. 4-pg., 2016-12-01. (13/02162-8)

FRANCA, MONICA M.; CONDEZO, YAZMINE B.; ELZAIAT, MAEVA; FELIPE-MEDINA, NATALIA; SANCHEZ-SAEZ, FERNANDO; MUNOZ, SERGIO; SAINZ-URRUELA, RAQUEL; ROSARIO MARTIN-HERVAS, M.; GARCIA-VALIENTE, RODRIGO; SANCHEZ-MARTIN, MANUEL A.; et al. A truncating variant of RAD51B associated with primary ovarian insufficiency provides insights into its meiotic and somatic functions. Cell Death and Differentiation, v. N/A, p. 15-pg., 2022-05-27. (14/50137-5, 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, p. 7-pg., 2017-01-01. (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, AUG 2021. (15/26563-7, 13/03236-5, 13/02162-8)

DE ALMEIDA GALATRO, T. F.; LERARIO, A.; MORETTI, I.; SOLA, P.; BERTOLDI, E. R.; FREITAS, V. G.; PEREIRA, T.; MARTINEZ, R. C.; MALDAUN, M. V.; EGGEN, B. J. L.; et al. Microglia exhibits proliferative and ECM modulating profiles in human gliomas. Glia, v. 65, p. 2-pg., 2017-06-01. (13/07704-3, 13/02162-8, 16/15652-1, 13/06315-3)

NAKAGUMA, MARILENA; CORREA, FERNANDA A.; SANTANA, LUCAS S.; BENEDETTI, ANNA F. F.; PEREZ, RICARDO, V; 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. 6-pg., 2019-05-01. (15/26563-7, 13/02162-8, 13/03236-5, 14/50137-5)

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 (Reprinted from vol 163, pg 206-211, 2016). JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY, v. 165, p. 6-pg., 2017-01-01. (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, p. 17-pg., 2019-03-01. (01/12898-4, 15/03614-5, 13/02162-8, 15/03995-9, 04/12133-6)

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)

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, 14/50137-5)

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, MAY 2018. (13/02162-8, 14/17220-6, 04/12133-6)

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, MAR 4 2019. (13/12006-3, 14/20341-0, 14/19976-0, 04/12133-6, 13/02162-8)

FRANCA, MONICA M.; NISHI, MIRIAN Y.; FUNARI, MARIANA F. A.; LERARIO, ANTONIO M.; BARACAT, EDMUND C.; HAYASHIDA, SYLVIA A. Y.; MACIEL, GUSTAVO A. R.; JORGE, ALEXANDER A. L.; MENDONCA, BERENICE B.. Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency. EUROPEAN JOURNAL OF MEDICAL GENETICS, v. 62, n. 3, p. 186-189, MAR 2019. (13/02162-8, 14/50137-5)

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)

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)

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. (14/50137-5, 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)

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)

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, 14/50137-5, 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)

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)

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)

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)

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)

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