New approaches and methodologies in molecular-genetic studies of growth and pubertal development disorders

• Grant number: 13/03236-5
• Support Opportunities: Research Projects - Thematic Grants
• Duration: April 01, 2014 - January 31, 2020
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Alexander Augusto de Lima Jorge
• Grantee: Alexander Augusto de Lima Jorge
• Host Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil
• Pesquisadores principais: Ana Claudia Latronico Xavier ; Ivo Jorge Prado Arnhold
• Associated researchers: 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
• Associated grant(s): 14/12325-4 - 53rd Annual ESPE Meeting, AR.EXT
• Associated scholarship(s): 18/10893-6 - Prospective evaluation of exome sequencing in the etiological investigation of syndromic short stature patients without clinical diagnosis, BP.DR; 18/03198-0 - Comprehensive genetic investigation of patients with Central Precocious Puberty associated with complex phenotypes, BP.PD; 16/03318-0 - Growth hormone and estrogen pharmacogenetics in patients with Turner Syndrome, BP.PD; 15/26980-7 - Genetic causes of prenatal onset growth disorder, BP.DR

Abstract

Disorders of growth and pubertal development in humans are under a strong genetic influence, including models of classic mendelian inheritance, as well as oligogenic and polygenic inheritance. New genetic tools have been recently developed, allowing simultaneous investigation of different genes and, in some cases, screening of the complete genome, in diseases with a genetic basis. The primary aim of this project is to develop and apply new molecular technologies in the investigation of disorders of growth and pubertal development. The project is divided in 2 modules, including 8 subprojects in total. The following developmental disorders will be studied: central precocious puberty, isolated hypogonadotropic hypogonadism, hypopituitarism, short stature associated with low weight and/or stature for gestational age and idiopathic short stature. In all of these conditions there are clear evidences of a strong genetic component involving genes yet to be revealed. The use of these new tools will allow an important advancement in the diagnosis, follow up and treatment of affected patients. The Endocrinology Development Unit of "Hospital das Clínicas" of São Paulo University is a national reference center for disorders of growth and development. Well established cohorts are already organized for each of the included conditions, allowing the rapid initiation of the studies. The research strategy will be to add new technologies to the traditional approach of candidate gene-sequencing, such as comparative genomic hybridization array for submicroscopic deletions or duplications screening, followed by new generation sequencing of specific target regions or exomic sequencing in selected cases (families with classic Mendelian pattern of inheritance or consanguineous families). After analysis of the preliminary data, new genes will be investigated in the entire cohort. With this approach we intend to develop new methodologies in order to identify new genes and physiologic pathways involved in the etiopathogenesis of the studied conditions and to form well trained researches in these new platforms. The proposed project is very important for its innovative character, advancement in the study of monogenic diseases and in the genotype-phenotype characterization. (AU)

Scientific publications

(51)

(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)

MACHADO CANTON, ANA PINHEIRO; NISHI, MIRIAN YUMIE; FURUYA, TATIANE KATSUE; ROELA, ROSIMEIRE APARECIDA; LIMA JORGE, ALEXANDER AUGUSTO. Good response to long-term therapy with growth hormone in a patient with 9p trisomy syndrome: A case report and review of the literature. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 170, n. 4, p. 1046-1049, APR 2014. (13/03236-5)

LIMA AMATO, LORENA GUIMARAES; LATRONICO, ANA CLAUDIA; GONTIJO SILVEIRA, LETICIA FERREIRA. Molecular and Genetic Aspects of Congenital Isolated Hypogonadotropic Hypogonadism. ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA, v. 46, n. 2, p. 283+, JUN 2017. (13/03236-5)

BESSA, DANIELLE S.; MACEDO, DELANIE B.; BRITO, VINICIUS N.; FRANCA, MONICA M.; MONTENEGRO, LUCIANA R.; CUNHA-SILVA, MARINA; SILVEIRA, LETICIA G.; HUMMEL, TIAGO; BERGADA, IGNACIO; BRASLAVSKY, DEBORA; et al. High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic. Neuroendocrinology, v. 105, n. 1, p. 17-25, 2017. (13/03236-5, 13/06391-1)

DAUBER, ANDREW; CUNHA-SILVA, MARINA; MACEDO, DELANIE B.; BRITO, VINICIUS N.; ABREU, ANA PAULA; ROBERTS, STEPHANIE A.; MONTENEGRO, LUCIANA R.; ANDREW, MELISSA; KIRBY, ANDREW; WEIRAUCH, MATTHEW T.; et al. Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 102, n. 5, p. 1557-1567, MAY 1 2017. (13/03236-5, 13/06391-1)

BRAZ, ADRIANA F.; COSTALONGA, EVERLAYNY F.; TRARBACH, ERICKA B.; SCALCO, RENATA C.; MALAQUIAS, ALEXSANDRA C.; GUERRA-JUNIOR, GIL; ANTONINI, SONIR R. R.; MENDONCA, BERENICE B.; ARNHOLD, IVO J. P.; JORGE, ALEXANDER A. L.. Genetic Predictors of Long-Term Response to Growth Hormone (GH) Therapy in Children With GH Deficiency and Turner Syndrome: The Influence of a SOCS2 Polymorphism. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 99, n. 9, p. E1808-E1813, SEP 2014. (13/03236-5)

LIDO, ANDRIA C. V.; FRANCA, MARCELA M.; CORREA, FERNANDA A.; OTTO, ALINE P.; CARVALHO, LUCIANI R.; QUEDAS, ELISANGELA P. S.; NISHI, MIRIAN Y.; MENDONCA, BERENICE B.; ARNHOLD, IVO J. P.; JORGE, ALEXANDER A. L.. Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort. GROWTH HORMONE & IGF RESEARCH, v. 24, n. 5, p. 180-186, OCT 2014. (13/03236-5, 05/04726-0)

CUNHA-SILVA, M.; BRITO, V. N.; MACEDO, D. B.; BESSA, D. S.; RAMOS, C. O.; LIMA, L. G.; BARROSO, P. S.; ARNHOLD, I. J. P.; SEGALOFF, D. L.; MENDONCA, B. B.; et al. Spontaneous fertility in a male patient with testotoxicosis despite suppression of FSH levels. Human Reproduction, v. 33, n. 5, p. 914-918, MAY 2018. (13/03236-5)

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)

LO MADEIRA, JOAO; NISHI, MIRIAN Y.; NAKAGUMA, MARILENA; BENEDETTI, ANNA F.; BISCOTTO, ISABELA PEIXOTO; FERNANDES, THAMIRIS; PEQUENO, THIAGO; FIGUEIREDO, THALITA; FRANCA, MARCELA M.; CORREA, FERNANDA A.; et al. Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations. CLINICAL ENDOCRINOLOGY, v. 87, n. 6, p. 725-732, DEC 2017. (13/03236-5, 15/26563-7)

ARNHOLD, IVO J. P.; FRANCA, MARCELA M.; CARVALHO, LUCIANI R.; MENDONCA, BERENICE B.; JORGE, ALEXANDER A. L.. Role of GLI2 in hypopituitarism phenotype. JOURNAL OF MOLECULAR ENDOCRINOLOGY, v. 54, n. 3, p. R141-R150, JUN 2015. (13/03236-5, 05/04726-0)

PEREIRA FONTENELE, EVELINE GADELHA; AMARAL DE MORAES, MARIA ELISABETE; D'ALVA, CATARINA BRASIL; PINHEIRO, DANIEL PASCOALINO; SALES PINHEIRO LANDIM, SARA AGUIAR; DE SOUSA BARROS, FERNANDO ANTONIO; TRARBACH, ERICKA BARBOSA; DE MENDONCA, BERENICE BILHARINHO; LIMA JORGE, ALEXANDER AUGUSTO. Association Study of GWAS-Derived Loci with Height in Brazilian Children: Importance of MAP3K3, MMP24 and IGF1R Polymorphisms for Height Variation. Hormone Research in Paediatrics, v. 84, n. 4, p. 248-253, 2015. (13/03236-5)

CORREA, FERNANDA A.; TRARBACH, ERICKA B.; TUSSET, CINTIA; LATRONICO, ANA CLAUDIA; MONTENEGRO, LUCIANA R.; CARVALHO, LUCIANI R.; FRANCA, MARCELA M.; OTTO, ALINE P.; COSTALONGA, EVERLAYNY F.; BRITO, VINICIUS N.; et al. FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies. ENDOCRINE CONNECTIONS, v. 4, n. 2, p. 100-107, JUN 1 2015. (13/03236-5)

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)

GONCALVES, FERNANDA T.; FRIDMAN, CINTIA; PINTO, EMILIA M.; GUEVARA-AGUIRRE, JAIME; SHEVAH, ORIT; ROSEMBLOOM, ARLAN L.; HWA, VIVIAN; CASSORLA, FERNANDO; ROSENFELD, RON G.; LINS, THERESA S. S.; et al. The E180splice Mutation in the GHR Gene Causing Laron Syndrome: Witness of a Sephardic Jewish Exodus from the Iberian Peninsula to the New World?. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 164, n. 5, p. 1204-1208, MAY 2014. (13/03236-5)

CORREA, FERNANDA A.; NAKAGUMA, MARILENA; MADEIRA, JOAO L. O.; NISHI, MIRIAN Y.; ABRAO, MILENA G.; JORGE, ALEXANDER A. L.; CARVALHO, LUCIANI R.; ARNHOLD, IVO J. P.; MENDONCA, BERENICE B.. Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery. ARCHIVES OF ENDOCRINOLOGY METABOLISM, v. 63, n. 2, p. 167-174, MAR-APR 2019. (13/03236-5)

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)

HOMMA, THAIS K.; KREPISCHI, ANA C. V.; FURUYA, TATIANE K.; HONJO, RACHEL S.; MALAQUIAS, ALEXSANDRA C.; BERTOLA, DEBORA R.; COSTA, SILVIA S.; CANTON, ANA P.; ROELA, ROSIMEIRE A.; FREIRE, BRUNA L.; et al. Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause. Hormone Research in Paediatrics, v. 89, n. 1, p. 13-21, 2018. (15/26980-7, 09/00898-1, 13/03236-5, 13/08028-1)

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)

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. (13/19920-2, 13/03236-5)

MONTENEGRO, LUCIANA; LABARTA, I, JOSE; PIOVESAN, MAIRA; CANTON, ANA P. M.; CORRIPIO, RAQUEL; SORIANO-GUILLEN, LEANDRO; TRAVIESO-SUAREZ, LOURDES; MARTIN-RIVADA, ALVARO; BARRIOS, VICENTE; SERAPHIM, CARLOS E.; et al. Novel Genetic and Biochemical Findings of DLK1 in Children with Central Precocious Puberty: A Brazilian-Spanish Study. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 105, n. 10, OCT 2020. (17/23892-5, 13/03236-5)

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)

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)

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. (13/03236-5, 15/26980-7)

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. (13/03236-5, 15/26980-7)

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)

INOUE-LIMA, THAIS H.; VASQUES, GABRIELA A.; SCALCO, RENATA C.; NAKAGUMA, MARILENA; MENDONCA, BERENICE B.; ARNHOLD, IVO J. P.; JORGE, ALEXANDER A. L.. IGF-1 assessed by pubertal status has the best positive predictive power for GH deficiency diagnosis in peripubertal children. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, v. 32, n. 2, p. 173-179, FEB 2019. (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)

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)

VASQUES, GABRIELA A.; ANDRADE, NATHALIA L. M.; JORGE, ALEXANDER A. L.. Genetic causes of isolated short stature. ARCHIVES OF ENDOCRINOLOGY METABOLISM, v. 63, n. 1, p. 70-78, JAN-FEB 2019. (13/03236-5)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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. (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. (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)

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)