Novas abordagens e metodologias na investigação genético-molecular dos distúrbios de crescimento e desenvolvimento puberal

• Processo: 13/03236-5
• Modalidade de apoio: Auxílio à Pesquisa - Temático
• Área do conhecimento: Ciências da Saúde - Medicina - Clínica Médica
• Pesquisador responsável: Alexander Augusto de Lima Jorge
• Beneficiário: Alexander Augusto de Lima Jorge
• Instituição Sede: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brasil
• Pesquisadores principais: Ana Claudia Latronico Xavier ; Ivo Jorge Prado Arnhold
• Pesquisadores associados: Berenice Bilharinho de Mendonça ; Carla Rosenberg ; Elaine Maria Frade Costa ; Gil Guerra Júnior ; Letícia Ferreira Gontijo Silveira ; Luciani Renata Silveira de Carvalho ; Milena Gurgel Teles Bezerra ; Sorahia Domenice ; Sueli Mieko Oba Shinjo ; Suely Kazue Nagahashi Marie ; Vinicius Nahime de Brito
• Auxílio(s) vinculado(s): 17/01720-8 - Endo 2017, AR.EXT; 14/12325-4 - 53rd Annual ESPE Meeting, AR.EXT
• Bolsa(s) vinculada(s): 18/10893-6 - Avaliação prospectiva do uso do sequenciamento exômico na investigação etiológica de pacientes sindrômicos com baixa estatura sem diagnóstico clínico, BP.DR; 18/03198-0 - Ampla investigação genética de pacientes com Puberdade Precoce Central associada à fenótipos complexos, BP.PD; 16/03318-0 - Farmacogenética do tratamento com hormônio de crescimento e estrógeno em pacientes com Síndrome de Turner, BP.PD; 15/26980-7 - Causas genéticas de distúrbio de crescimento de início pré-natal, BP.DR
• Assunto(s): Endocrinologia Genética Hipogonadismo Puberdade precoce Hormônio do crescimento Insuficiência ovariana primária
• Palavra(s)-Chave do Pesquisador: Baixa estatura | Deficiência de hormônio de crescimento | Endocrinologia e genética | Falência ovariana prematura | hipogonadismo | puberdade precoce | Endocrinologia e metabologia

Resumo

As doenças que comprometem o crescimento e o desenvolvimento puberal humano apresentam uma forte influência genética, incluindo modelos de herança Mendeliana clássica e formas oligogênicas e poligênicas. Recentemente, novas ferramentas genéticas foram desenvolvidas permitindo uma investigação simultânea de diversos genes e até mesmo do genoma completo em doenças com base genética. Desta forma, o objetivo principal do projeto atual é desenvolver e aplicar novas tecnologias de genética molecular na investigação dos distúrbios de crescimento e puberdade. O projeto encontra-se organizado em 2 módulos, totalizando 8 subprojetos. As seguintes anormalidades do desenvolvimento humano serão estudadas: hipopituitarismo, baixa estatura associada a baixo peso e/ou altura para idade gestacional, baixa estatura idiopática puberdade precoce central, hipogonadismo hipo e hipergonadotrófico. Todas estas condições apresentam evidências claras de forte componente hereditário com genes ainda não conhecidos. O uso dessas novas tecnologias permitirá um avanço importante no diagnóstico, acompanhamento, aconselhamento genético e tratamento dos pacientes afetados. A Unidade de Endocrinologia do Desenvolvimento da Disciplina de Endocrinologia do Hospital das Clinicas da FMUSP é há muitos anos um centro de referência para estas condições. Casuísticas bem estabelecidas já estão organizadas para cada uma das condições a serem estudadas permitindo o início imediato do projeto. Como estratégia de pesquisa, além da abordagem clássica baseada no sequenciamento tradicional de genes candidatos, pretendemos adicionar novas ferramentas, como a metodologia de array para a pesquisa de deleções ou duplicações submicroscópicas em todo o genoma, seguida de sequenciamento de nova geração (regiões alvos e/ou sequenciamento exômico) em casos selecionados (famílias onde a herança mendeliana é claramente observada ou casos de consanguinidade). Após análise dos dados, novos genes candidatos identificados na primeira fase do estudo serão investigados na casuística completa. Desta forma, pretendemos estabelecer novas metodologias visando o diagnóstico genético-molecular, identificar novos genes e vias fisiológicas envolvidas na etiopatogenia das doenças estudadas e formar pesquisadores treinados nestas novas plataformas. O projeto proposto tem caráter inovador, além de avançar o conhecimento das doenças monogênicas e da caracterização da relação genótipo-fenótipo. (AU)

Publicações científicas

(62)

(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)

SCALCO, RENATA C.; HWA, VIVIAN; DOMENE, HORACIO M.; JASPER, HECTOR G.; BELGOROSKY, ALICIA; MARINO, ROXANA; PEREIRA, ALBERTO M.; TONELLI, CARLOS A.; WIT, JAN M.; ROSENFELD, RON G.; et al. STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritability. EUROPEAN JOURNAL OF ENDOCRINOLOGY, v. 173, n. 3, p. 291-296, SEP 2015. (10/19809-6, 13/03236-5, 11/15078-0)

VASQUES, GABRIELA A.; ARNHOLD, IVO J. P.; JORGE, ALEXANDER A. L.. Role of the Natriuretic Peptide System in Normal Growth and Growth Disorders. Hormone Research in Paediatrics, v. 82, n. 4, p. 222-229, 2014. (11/11801-9, 13/03236-5)

ALBUQUERQUE, EDOARDA V. A.; SCALCO, RENATA C.; JORGE, ALEXANDER A. L.. Diagnostic and therapeutic approach of tall stature. EUROPEAN JOURNAL OF ENDOCRINOLOGY, v. 176, n. 6, p. R339-R353, JUN 2017. (13/03236-5, 16/03318-0)

CANTON, ANA P. M.; COSTA, SILVIA S.; RODRIGUES, TATIANE C.; BERTOLA, DEBORA R.; MALAQUIAS, ALEXSANDRA C.; CORREA, FERNANDA A.; ARNHOLD, IVO J. P.; ROSENBERG, CARLA; JORGE, ALEXANDER A. L.. Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways. EUROPEAN JOURNAL OF ENDOCRINOLOGY, v. 171, n. 2, p. 253-262, AUG 2014. (09/00898-1, 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)

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, JULY 2019. (14/50137-5, 13/03236-5)

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, AUG 2016. (13/03236-5, 10/05188-0)

OTTO, ALINE P.; FRANCA, MARCELA M.; CORREA, FERNANDA A.; COSTALONGA, EVERLAYNY F.; LEITE, CLAUDIA C.; MENDONCA, BERENICE B.; ARNHOLD, IVO J. P.; CARVALHO, LUCIANI R. S.; JORGE, ALEXANDER A. L.. Frequent development of combined pituitary hormone deficiency in patients initially diagnosed as isolated growth hormone deficiency: a long term follow-up of patients from a single center. Pituitary, v. 18, n. 4, p. 561-567, AUG 2015. (13/03236-5)

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, FEB 2020. (14/50137-5, 13/03236-5)

LIN, YUH-CHARN; NICETA, MARCELLO; MUTO, VALENTINA; VONA, BARBARA; PAGNAMENTA, ALISTAIR T.; MAROOFIAN, REZA; BEETZ, CHRISTIAN; VAN DUYVENVOORDE, HERMINE; DENTICI, MARIA LISA; LAUFFER, PETER; et al. SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling. American Journal of Human Genetics, v. 108, n. 1, p. 115-133, JAN 7 2021. (13/03236-5, 18/10893-6)

HARRIS, SARAH C.; CHONG, KAREN; CHITAYAT, DAVID; GILMORE, KELLY L.; JORGE, ALEXANDER A. L.; FREIRE, BRUNA L.; LERARIO, ANTONIO; SHANNON, PATRICK; COPE, HEIDI; GALLENTINE, WILLIAM B.; et al. Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 191, n. 5, p. 11-pg., 2023-02-24. (18/10893-6, 13/03236-5)

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)

SCALCO, RENATA C.; TRARBACH, ERICKA B.; ALBUQUERQUE, EDOARDA V. A.; HOMMA, THAIS K.; INOUE-LIMA, THAIS H.; NISHI, MIRIAN Y.; MENDONCA, BERENICE B.; JORGE, ALEXANDER A. L.. ESR1 polymorphism (rs2234693) influences femoral bone mass in patients with Turner syndrome. ENDOCRINE CONNECTIONS, v. 8, n. 11, p. 7-pg., 2019-11-01. (16/03318-0, 13/03236-5)

FERREIRA, NATHALIA G. B. P.; MADEIRA, JOAO L. O.; GERGICS, PETER; KERTSZ, RENATA; MARQUES, JULIANA M.; TRIGUEIRO, NICHOLAS S. S.; BENEDETTI, ANNA FLAVIA FIGUEREDO; AZEVEDO, BRUNA, V; FERNANDES, BIANCA H., V; BISSEGATTO, DEBORA D.; et al. Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders. ENDOCRINE CONNECTIONS, v. 12, n. 8, p. 12-pg., 2023-08-01. (13/03236-5)

MAGRINO, JOSEPH; MUNFORD, VERIDIANA; MARTINS, DAVI JARDIM; HOMMA, THAIS K.; PAGE, BRENDAN; GAUBITZ, CHRISTL; FREIRE, BRUNA L.; LERARIO, ANTONIO M.; VILAR, JULIANA BRANDSTETTER; AMORIN, ANTONIO; et al. A thermosensitive PCNA allele underlies an ataxia- telangiectasia-like disorder. Journal of Biological Chemistry, v. 299, n. 5, p. 16-pg., 2023-04-26. (18/10893-6, 13/03236-5)

SENTCHORDI-MONTANE, LUCIA; BENITO-SANZ, SARA; AZA-CARMONA, MIRIAM; PEREDA, ARRATE; PARRON-PAJARES, MANUEL; DE LA TORRE, CAROLINA; VASQUES, GABRIELA A.; FUNARI, MARIANA F. A.; TRAVESSA, ANDRE M.; DIAS, PATRICIA; et al. Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 105, n. 8, p. 2654-2666, AUG 2020. (13/03236-5)

GERGICS, PETER; SMITH, CATHY; BANDO, HIRONORI; JORGE, ALEXANDER A. L.; ROCKSTROH-LIPPOLD, DENISE; VISHNOPOLSKA, SEBASTIAN A.; CASTINETTI, FREDERIC; MAKSUTOVA, MARIAM; SILVEIRA CARVALHO, LUCIANI RENATA; HOPPMANN, JULIA; et al. igh-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficienc. American Journal of Human Genetics, v. 108, n. 8, p. 1526-1539, AUG 5 2021. (13/03236-5)

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)

HISADO-OLIVA, ALFONSO; RUZAFA-MARTIN, ALBA; SENTCHORDI, LUCIA; FUNARI, MARIANA F. A.; BEZANILLA-LOPEZ, CAROLINA; ALONSO-BERNALDEZ, MARTA; BARRAZA-GARCIA, JIMENA; RODRIGUEZ-ZABALA, MARIA; LERARIO, ANTONIO M.; BENITO-SANZ, SARA; et al. Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature. Genetics in Medicine, v. 20, n. 1, p. 91-97, JAN 2018. (13/03236-5)

LATRONICO, ANA CLAUDIA; BRITO, VINICIUS NAHIME; CAREL, JEAN-CLAUDE. Causes, diagnosis, and treatment of central precocious puberty. LANCET DIABETES & ENDOCRINOLOGY, v. 4, n. 3, p. 265-274, MAR 2016. (13/03236-5)

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)

FREIRE, BRUNA L.; HOMMA, THAIS K.; FUNARI, MARIANA F. A.; LERARIO, ANTONIO M.; VASQUES, GABRIELA A.; MALAQUIAS, ALEXSANDRA C.; ARNHOLD, IVO J. P.; JORGE, ALEXANDER A. L.. Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 104, n. 6, p. 2023-2030, JUN 2019. (15/26980-7, 13/03236-5, 14/50137-5)

GKOUROGIANNI, ALEXANDRA; ANDREW, MELISSA; TYZINSKI, LEAH; CROCKER, MELISSA; DOUGLAS, JESSICA; DUNBAR, NANCY; FAIRCHILD, JAN; FUNARI, MARIANA F. A.; HEATH, KAREN E.; JORGE, ALEXANDER A. L.; et al. Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 102, n. 2, p. 460-469, FEB 1 2017. (13/03236-5)

SERAPHIM, CARLOS EDUARDO; CANTON, ANA PINHEIRO MACHADO; MONTENEGRO, LUCIANA; PIOVESAN, MAIARA RIBEIRO; MACEDO, DELANIE B.; CUNHA, MARINA; GUIMARAES, ALINE; OLIVEIRA RAMOS, CAROLINA; FIGUEIREDO BENEDETTI, ANNA FLAVIA; DE CASTRO LEAL, ANDREA; et al. Genotype-Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 106, n. 4, p. 1041-1050, APR 2021. (13/03236-5, 18/03198-0)

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)

SCALCO, RENATA C.; TRARBACH, ERICKA B.; ALBUQUERQUE, EDOARDA V. A.; HOMMA, THAIS K.; INOUE-LIMA, THAIS H.; NISHI, MIRIAN Y.; MENDONCA, BERENICE B.; JORGE, ALEXANDER A. L.. ESR1 polymorphism (rs2234693) influences femoral bone mass in patients with Turner syndrome. ENDOCRINE CONNECTIONS, v. 8, n. 11, p. 1513-1519, NOV 2019. (13/03236-5, 16/03318-0)

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)

CORREA, FERNANDA A.; FRANCA, MARCELA M.; FANG, QING; MA, QIANYI; BACHEGA, TANIA A.; RODRIGUES, ANDRESA; OZEL, BILGE A.; LI, JUN Z.; MENDONCA, BERENICE B.; JORGE, ALEXANDER A. L.; et al. Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing. ARCHIVES OF ENDOCRINOLOGY METABOLISM, v. 61, n. 6, p. 633-636, DEC 2017. (13/03236-5)

GABRIELA A. VASQUES; NATHALIA L. M. ANDRADE; FERNANDA A. CORREA; ALEXANDER A. L. JORGE. Update on new GH-IGF axis genetic defects. ARCHIVES OF ENDOCRINOLOGY METABOLISM, v. 63, n. 6, p. 608-617, 2020-01-10. (13/03236-5)

HOMMA, THAIS KATAOKA; FREIRE, BRUNA LUCHEZE; HONJO KAWAHIRA, RACHEL SAYURI; DAUBER, ANDREW; DE ASSIS FUNARI, MARIANA FERREIRA; LERARIO, ANTONIO MARCONDES; NISHI, MIRIAN YUMIE; DE ALBUQUERQUE, EDOARDA VASCO; VASQUES, GABRIELA DE ANDRADE; COLLETT-SOLBERG, PAULO FERREZ; et al. Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing. JOURNAL OF PEDIATRICS, v. 215, p. 192-198, DEC 2019. (14/50137-5, 13/03236-5, 15/26980-7)

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. (14/50137-5, 13/03236-5, 15/26563-7, 13/02162-8)

BESSA, DANIELLE S.; MASCHIETTO, MARIANA; AYLWIN, CARLOS FRANCISCO; CANTON, ANA P. M.; BRITO, VINICIUS N.; MACEDO, DELANIE B.; CUNHA-SILVA, MARINA; PALHARES, HELOISA M. C.; DE RESENDE, ELISABETE A. M. R.; BORGES, MARIA DE FATIMA; et al. Methylome profiling of healthy and central precocious puberty girls. CLINICAL EPIGENETICS, v. 10, NOV 22 2018. (13/03236-5, 15/06281-7)

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, 2018. (13/03236-5, 13/06391-1, 14/50137-5)

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, 14/50137-5)

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, JAN 2020. (14/50137-5, 13/03236-5, 15/26980-7)

ALINE D. COSTA-RIQUETTO; LUCAS S. SANTANA; LÍLIAN A. CAETANO; ANTÔNIO M. LERÁRIO; JOYA E. M. CORREIA-DEUR; DÉBORA R. BERTOLA; CHONG A. KIM; MÁRCIA NERY; ALEXANDER A. L. JORGE; MILENA G. TELES. Targeted massively parallel sequencing for congenital generalized lipodystrophy. ARCHIVES OF ENDOCRINOLOGY METABOLISM, v. 64, n. 5, p. 559-566, 2020-08-28. (13/03236-5, 13/19920-2)

LIMA AMATO, LORENA GUIMARAES; MONTENEGRO, LUCIANA RIBEIRO; LERARIO, ANTONIO MARCONDES; LIMA JORGE, ALEXANDER AUGUSTO; GUERRA JUNIOR, GIL; SCHNOLL, CAROLINE; RENCK, ALESSANDRA COVALLERO; TRARBACH, ERICKA BARBOSA; FRADE COSTA, ELAINE MARIA; MENDONCA, BERENICE BILHARINHO; et al. New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism. EUROPEAN JOURNAL OF ENDOCRINOLOGY, v. 181, n. 2, p. 103-119, AUG 2019. (13/03236-5, 14/50137-5)

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, JAN 2017. (13/03236-5, 14/50137-5)

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