Molecular characterization of congenital endocrine diseases that affect growth and development

• Grant number: 05/04726-0
• Support Opportunities: Research Projects - Thematic Grants
• Start date: August 01, 2006
• End date: September 30, 2011
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Ana Claudia Latronico Xavier
• Grantee: Ana Claudia Latronico Xavier
• Host Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil
• Pesquisadores principais: Berenice Bilharinho de Mendonça ; Ivo Jorge Prado Arnhold ; Tania Aparecida Sartori Sanchez Bachega
• Associated researchers: Alexander Augusto de Lima Jorge ; Berenice Bilharinho de Mendonça ; Elaine Maria Frade Costa ; Ivo Jorge Prado Arnhold ; Regina Matsunaga Martin
• Associated scholarship(s): 10/05188-0 - Validation of a radioimmunoassay for 11-deoxycortisol measurement for the diagnosis of hyperandrogenic disorders, BP.IC; 08/51624-6 - Analysis of modulator genes in the nonclassical 21-hydroxylase deficiency phenotype, BP.MS

Abstract

Human growth and development represent a sequential process, during which the fertile egg reaches the adult state. Growth is characterized by the balanced cellular multiplication, whereas development is mainly characterized by cellular differentiation. In the present project, we will analyze different genes in clinical syndromes implicated in human growth and development. In the growth module, we will investigate different genetic defects associated with pre- and post-natal growth delay, such as IGF1 and its receptor, IGF2, insulin, and the PROP1 transcription factor. In addition to the etiologic factors of the short stature, we will investigate the genetic variability that can modulate the therapeutic clinical response to GH. In the development module, we will study new genetic factors, recently implicated in gonadal development and differentiation (CBX2, TCF2l, DHH, FOXL2) and the hormonal regulation of isosexual and heterosexual secondary pubertal development (FGFR1, GPR54, Kisspeptin 1) and (HSD11β1, H6PDH, ESR1 e POR), respectively. The current project represents the continuing research of two previously studied areas with FAPESP support (process numbers: 97/01196-1 and 00/14092-4). This study consists of a large Brazilian cohort affected by growth and/or sexual development disorders, in which classic genetic defects were previously excluded. The identification and functional analysis of molecular defects in this group of patients will contribute to the amplification of their current physiopathology knowledge, as well as of genetic counseling given to these families, and finally it can be useful to establish the conditions that will optimize the therapeutic response. (AU)

Scientific publications

(48)

(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)

FERREIRA, LIZE V.; SOUZA, SILVIA C. A. L.; MONTENEGRO, LUCIANA R.; MALAQUIAS, ALEXSANDRA C.; ARNHOLD, IVO J. P.; MENDONCA, BERENICE B.; JORGE, ALEXANDER A. L.. Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients. Clinical Endocrinology, v. 69, n. 3, p. 426-431, Sept. 2008. (05/04726-0)

ALEXANDER A. L. JORGE; MIRIAN Y. NISHI; MARIANA F. A. FUNARI; SILVIA C. SOUZA; IVO J. P. ARNHOLD; BERENICE B. MENDONÇA. Baixa estatura por haploinsuficiência do gene SHOX: do diagnóstico ao tratamento. Arquivos Brasileiros de Endocrinologia e Metabologia, v. 52, n. 5, p. 765-773, 2008-07-00. (05/04726-0)

MONTENEGRO, LUCIANA R.; LEAL, ANDREA C.; COUTINHO, DEBORA C.; VALASSI, HELENA P. L.; NISHI, MIRIAN Y.; PARNHOLD, IVO J.; MENDONCA, BERENICE B.; JORGE, ALEXANDER A. L.. Post-receptor IGF1 insensitivity restricted to the MAPK pathway in a Silver-Russell syndrome patient with hypomethylation at the imprinting control region on chromosome 11. EUROPEAN JOURNAL OF ENDOCRINOLOGY, v. 166, n. 3, p. 543-550, MAR 2012. (05/04726-0)

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)

MACEDO, DELANIE B.; ABREU, ANA PAULA; REIS, ANA CLAUDIA S.; MONTENEGRO, LUCIANA R.; DAUBER, ANDREW; BENEDUZZI, DAIANE; CUKIER, PRISCILLA; SILVEIRA, LETICIA F. G.; TELES, MILENA G.; CARROLL, RONA S.; et al. Central Precocious Puberty That Appears to Be Sporadic Caused by Paternally Inherited Mutations in the Imprinted Gene Makorin Ring Finger 3. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 99, n. 6, p. E1097-E1103, JUN 2014. (13/06391-1, 05/04726-0)

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)

FUNARI, MARIANA F. A.; JORGE, ALEXANDER A. L.; PINTO, EMILIA M.; ARNHOLD, IVO J. P.; MENDONCA, BERENICE B.; NISH, MIRIAN Y.. Deleção críptica intragênica do gene SHOX em uma família com discondrosteose de Léri-Weill detectada por Multiplex Ligation-Dependent Probe Amplification (MLPA). Arquivos Brasileiros de Endocrinologia e Metabologia, v. 52, n. 8, p. 1382-1387, NOV 2008. (05/04726-0)

MONTENEGRO, LUCIANA RIBEIRO; SILVEIRA, LETICIA F. G.; TUSSET, CINTIA; DE CASTRO, MARGARET; VERSIANI, BEATRIZ R.; LATRONICO, ANA CLAUDIA; MENDONCA, BERENICE BILHARINHO; TRARBACH, ERICKA B.. Combined use of multiplex ligation-dependent probe amplification and automatic sequencing for identification of KAL1 defects in patients with Kallmann syndrome. Fertility and Sterility, v. 100, n. 3, p. 854-859, SEP 2013. (05/04726-0)

BRAZ, ADRIANA F.; COSTALONGA, EVERLAYNY F.; MONTENEGRO, LUCIANA R.; TRARBACH, ERICKA B.; ANTONINI, SONIR R. R.; MALAQUIAS, ALEXSANDRA C.; RAMOS, ESTER S.; MENDONCA, BERENICE B.; ARNHOLD, IVO J. P.; JORGE, ALEXANDER A. L.. The Interactive Effect of GHR-Exon 3 and -202 A/C IGFBP3 Polymorphisms on rhGH Responsiveness and Treatment Outcomes in Patients with Turner Syndrome. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 97, n. 4, p. E671-E677, APR 2012. (05/04726-0)

MOURA-MASSARI, V. O.; BUGANO, D. D. G.; MARCONDES, J. A. M.; GOMES, L. G.; MENDONCA, B. B.; BACHEGA, T. A. S. S.. CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia. Hormone and Metabolic Research, v. 45, n. 4, p. 301-307, APR 2013. (08/51624-6, 05/04726-0)

ALMEIDA‚ M.Q.; BRITO‚ V.N.; LINS‚ T.S.S.; GUERRA-JUNIOR‚ G.; DE CASTRO‚ M.; ANTONINI‚ S.R.; ARNHOLD‚ I.J.P.; MENDONCA‚ B.B.; LATRONICO‚ A.C.. Long-term treatment of familial male-limited precocious puberty (testotoxicosis) with cyproterone acetate or ketoconazole. Clinical Endocrinology, v. 69, n. 1, p. 93-98, 2008. (05/04726-0, 06/00244-3)

JORGE, ALEXANDER A. L.; MALAQUIAS, ALEXSANDRA C.; ARNHOLD, IVO J. P.; MENDONCA, BERENICE B.. Noonan Syndrome and Related Disorders: A Review of Clinical Features and Mutations in Genes of the RAS/MAPK Pathway. HORMONE RESEARCH, v. 71, n. 4, p. 185-193, 2009. (05/04726-0)

COSTA, ELAINE M. F.; DOMENICE, SORAHIA; SIRCILI, MARIA HELENA; INACIO, MARLENE; MENDONCA, BERENICE B.. DSD Due to 5 alpha-Reductase 2 Deficiency - from Diagnosis to Long Term Outcome. SEMINARS IN REPRODUCTIVE MEDICINE, v. 30, n. 5, p. 427-431, SEP 2012. (05/04726-0)

MOREIRA, RICARDO P. P.; JORGE, ALEXANDER A. L.; MENDONCA, BERENICE B.; BACHEGA, TANIA A. S. S.. Frequency of genetic polymorphisms of PXR gene in the Brazilian population. Clinics, v. 66, n. 6, p. 1041-1044, 2011. (05/04726-0)

FUNARI, MARIANA F. A.; JORGE, ALEXANDER A. L.; SOUZA, SILVIA C. A. L.; BILLERBECK, ANA E. C.; ARNHOLD, IVO J. P.; MENDONCA, BERENICE B.; NISHI, MIRIAN Y.. Usefulness of MLPA in the detection of SHOX deletions. EUROPEAN JOURNAL OF MEDICAL GENETICS, v. 53, n. 5, p. 234-238, SEP-OCT 2010. (05/04726-0)

FRANCA, MARCELA M.; JORGE, ALEXANDER A. L.; ALATZOGLOU, KYRIAKI S.; CARVALHO, LUCIANI R. S.; MENDONCA, BERENICE B.; AUDI, LAURA; CARRASCOSA, ANTONIO; DATTANI, MEHUL T.; ARNHOLD, IVO J. P.. Absence of GH-Releasing Hormone (GHRH) Mutations in Selected Patients with Isolated GH Deficiency. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 96, n. 9, p. E1457-E1460, SEP 2011. (05/04726-0)

TELES, MILENA GURGEL; BIANCO, SUZY D. C.; BRITO, VINICIUS NAHIME; TRARBACH, ERICKA B.; KUOHUNG, WENDY; XU, SHUYUN; SEMINARA, STEPHANIE B.; MENDONCA, BERENICE B.; KAISER, URSULA B.; LATRONICO, ANA CLAUDIA. A GPR54-activating mutation in a patient with central precocious puberty. New England Journal of Medicine, v. 358, n. 7, p. 709-715, Feb. 2008. (05/04726-0)

TRARBACH, ERICKA BARBOSA; SILVEIRA, LETICIA GONTIJO; LATRONICO, ANA CLAUDIA. Genetic insights into human isolated gonadotropin deficiency. Pituitary, v. 10, n. 4, p. 381-391, Dec. 2007. (05/04726-0)

ABREU, ANA PAULA; TRARBACH, ERICKA BARBOSA; DE CASTRO, MARGARET; FRADE COSTA, ELAINE MARIA; VERSIANI, BEATRIZ; MATIAS BAPTISTA, MARIA TEREZA; GARMES, HERALDO MENDES; MENDONCA, BERENICE BILHARINHO; LATRONICO, ANA CLAUDIA. Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 93, n. 10, p. 4113-4118, OCT 2008. (05/04726-0)

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)

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)

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)

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)

SANTOS, MARIZA G.; MACHADO, ALINE Z.; MARTINS, CONCEICAO N.; DOMENICE, SORAHIA; COSTA, ELAINE M. F.; NISHI, MIRIAN Y.; FERRAZ-DE-SOUZA, BRUNO; JORGE, SORAIA A. C.; PEREIRA, CARLOS A.; SOARDI, FERNANDA C.; et al. Homozygous Inactivating Mutation in NANOS3 in Two Sisters with Primary Ovarian Insufficiency. BIOMED RESEARCH INTERNATIONAL, v. 2014, p. 8-pg., 2014-01-01. (05/04726-0)

SANTOS, MARIZA G.; MACHADO, ALINE Z.; MARTINS, CONCEICAO N.; DOMENICE, SORAHIA; COSTA, ELAINE M. F.; NISHI, MIRIAN Y.; FERRAZ-DE-SOUZA, BRUNO; JORGE, SORAIA A. C.; PEREIRA, CARLOS A.; SOARDI, FERNANDA C.; et al. Homozygous Inactivating Mutation in NANOS3 in Two Sisters with Primary Ovarian Insufficiency. BIOMED RESEARCH INTERNATIONAL, 2014. (05/04726-0)

COSTALONGA, E. F.; ANTONINI, S. R. R.; GUERRA-JUNIOR, G.; COLETTA, R. R. D.; FRANCA, M. M.; BRAZ, A. F.; MENDONCA, B. B.; ARNHOLD, I. J. P.; JORGE, A. A. L.. Growth hormone pharmacogenetics: the interactive effect of a microsatellite in the IGF1 promoter region with the GHR-exon 3 and-202 A/C IGFBP3 variants on treatment outcomes of children with severe GH deficiency. PHARMACOGENOMICS JOURNAL, v. 12, n. 5, p. 439-445, OCT 2012. (05/04726-0)

LATRONICO, ANA CLAUDIA; ARNHOLD, IVO J. P.. Inactivating Mutations of the Human Luteinizing Hormone Receptor in Both Sexes. SEMINARS IN REPRODUCTIVE MEDICINE, v. 30, n. 5, p. 382-386, SEP 2012. (05/04726-0)

ABREU, ANA PAULA; NOEL, SEKONI D.; XU, SHUYUN; CARROLL, RONA S.; LATRONICO, ANA CLAUDIA; KAISER, URSULA B.. Evidence of the Importance of the First Intracellular Loop of Prokineticin Receptor 2 in Receptor Function. MOLECULAR ENDOCRINOLOGY, v. 26, n. 8, p. 1417-1427, AUG 2012. (05/04726-0)

FRANCA, MARCELA M.; JORGE, ALEXANDER A. L.; CARVALHO, LUCIANI R. S.; COSTALONGA, EVERLAYNY F.; VASQUES, GABRIELA A.; LEITE, CLAUDIA C.; MENDONCA, BERENICE B.; ARNHOLD, IVO J. P.. Novel Heterozygous Nonsense GLI2 Mutations in Patients with Hypopituitarism and Ectopic Posterior Pituitary Lobe without Holoprosencephaly. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 95, n. 11, p. E384-E391, NOV 2010. (05/04726-0)

SCALCO, RENATA C.; MELO, SUZANA S. J.; PUGLIESE-PIRES, PATRICIA N.; FUNARI, MARIANA F. A.; NISHI, MIRIAN Y.; ARNHOLD, IVO J. P.; MENDONCA, BERENICE B.; JORGE, ALEXANDER A. L.. Effectiveness of the Combined Recombinant Human Growth Hormone and Gonadotropin-Releasing Hormone Analog Therapy in Pubertal Patients with Short Stature due to SHOX Deficiency. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 95, n. 1, p. 328-332, JAN 2010. (05/04726-0)

COSTALONGA, EVERLAYNY FIOROT; ANTONINI, SONIR R.; GUERRA-JUNIOR, GIL; MENDONCA, BERENICE BILHARINHO; ARNHOLD, IVO J. P.; JORGE, ALEXANDER A. L.. The-202 A Allele of Insulin-Like Growth Factor Binding Protein-3 (IGFBP3) Promoter Polymorphism Is Associated with Higher IGFBP-3 Serum Levels and Better Growth Response to Growth Hormone Treatment in Patients with Severe Growth Hormone Deficiency. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 94, n. 2, p. 588-595, FEB 2009. (05/04726-0)

ARNHOLD, IVO JORGE; LOFRANO-PORTO, ADRIANA; LATRONICO, ANA CLAUDIA. Inactivating Mutations of Luteinizing Hormone beta-Subunit or Luteinizing Hormone Receptor Cause Oligo-Amenorrhea and Infertility in Women. HORMONE RESEARCH, v. 71, n. 2, p. 75-82, 2009. (05/04726-0)

GOMES, LARISSA G.; HUANG, NINGWU; AGRAWAL, VISHAL; MENDONCA, BERENICE B.; BACHEGA, TANIA A. S. S.; MILLER, WALTER L.. Extraadrenal 21-Hydroxylation by CYP2C19 and CYP3A4: Effect on 21-Hydroxylase Deficiency. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 94, n. 1, p. 89-95, JAN 2009. (05/04726-0)

ABREU, ANA PAULA; DAUBER, ANDREW; MACEDO, DELANIE B.; NOEL, SEKONI D.; BRITO, VINICIUS N.; GILL, JOHN C.; CUKIER, PRISCILLA; THOMPSON, IAIN R.; NAVARRO, VICTOR M.; GAGLIARDI, PRISCILA C.; et al. Central Precocious Puberty Caused by Mutations in the Imprinted Gene MKRN3. New England Journal of Medicine, v. 368, n. 26, p. 2467-2475, JUN 27 2013. (05/04726-0)

JORGE‚ A.A.L.; ARNHOLD‚ I.J.P.. Growth hormone receptor exon 3 isoforms and their implication in growth disorders and treatment. Hormone Research in Paediatrics, v. 71, n. 2, p. 55-63, 2009. (05/04726-0)

TRARBACH, ERICKA B.; ABREU, ANA PAULA; GONTIJO SILVEIRA, LETICIA FERREIRA; GARMES, HERALDO MENDES; BAPTISTA, MARIA TEREZA M.; TELES, MILENA GURGEL; COSTA, ELAINE M. F.; MOHAMMADI, MOOSA; PITTELOUD, NELLY; MENDONCA, BERENICE B.; et al. Nonsense Mutations in FGF8 Gene Causing Different Degrees of Human Gonadotropin-Releasing Deficiency. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 95, n. 7, p. 3491-3496, JUL 2010. (05/04726-0)

GIANETTI, ELENA; TUSSET, CINTIA; NOEL, SEKONI D.; AU, MARGARET G.; DWYER, ANDREW A.; HUGHES, VIRGINIA A.; ABREU, ANA PAULA; CARROLL, JESSICA; TRARBACH, ERICKA; SILVEIRA, LETICIA F. G.; et al. TAC3/TACR3 Mutations Reveal Preferential Activation of Gonadotropin-Releasing Hormone Release by Neurokinin B in Neonatal Life Followed by Reversal in Adulthood. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 95, n. 6, p. 2857-2867, JUN 2010. (05/04726-0)

ALMEIDA, MADSON Q.; SOARES, IBERE CAUDURO; RIBEIRO, TAMAYA C.; FRAGOSO, MARIA CANDIDA B. V.; MARINS, LIDIANE V.; WAKAMATSU, ALDA; RESSIO, RODRIGO A.; NISHI, MIRIAN Y.; JORGE, ALEXANDER A. L.; LERARIO, ANTONIO M.; et al. Steroidogenic Factor 1 Overexpression and Gene Amplification Are More Frequent in Adrenocortical Tumors from Children than from Adults. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 95, n. 3, p. 1458-1462, MAR 2010. (06/00244-3, 05/04726-0)

TRARBACH, ERICKA BARBOSA; TELES, MILENA GURGEL; FRADE COSTA, ELAINE MARIA; ABREU, ANA PAULA; GARMES, HERALDO MENDES; GUERRA-JUNIOR, GIL; MATIAS BAPTISTA, MARIA TEREZA; DE CASTRO, MARGARET; MENDONCA, BERENICE BILHARINHO; LATRONICO, ANA CLAUDIA. Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification: detection of a hemizygosis for the fibroblast growth factor receptor 1. CLINICAL ENDOCRINOLOGY, v. 72, n. 3, p. 371-376, MAR 2010. (05/04726-0)

ABREU, ANA PAULA; KAISER, URSULA B.; LATRONICO, ANA CLAUDIA. The Role of Prokineticins in the Pathogenesis of Hypogonadotropic Hypogonadism. Neuroendocrinology, v. 91, n. 4, p. 283-290, 2010. (05/04726-0)

TRARBACH, ERICKA BARBOSA; COSTA, ELAINE MARIA FRADE; VERSIANI, BEATRIZ; CASTRO, MARGARET DE; BAPTISTA, MARIA TEREZA MATIAS; GARMES, HERALDO MENDES; MENDONÇA, BERENICE BILHARINHO DE; LATRONICO, ANA CLAUDIA. Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 91, n. 10, p. 4006-4012, Oct. 2006. (05/04726-0)

COUTINHO, DEBORA C.; COLETTA, ROCIO R. D.; COSTA, ELAINE M. F.; PACHI, PAULO R.; BOGUSZEWSKI, MARGARET C. S.; DAMIANI, DURVAL; MENDONÇA, BERENICE B.; ARNHOLD, IVO J. P.; JORGE, ALEXANDER A. L.. Polymorphisms identified in the upstream core polyadenylation signal of IGF1 gene Exon 6 do not cause pre- and postnatal growth impairment. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 92, n. 12, p. 4889-4892, Dec. 2007. (05/04726-0)

MOREIRA, RICARDO P. P.; JORGE, ALEXANDER A. L.; GOMES, LARISSA G.; KAUPERT, LAURA C.; MASSUD FILHO, JOAO; MENDONCA, BERENICE B.; BACHEGA, TANIA A. S. S.. Pharmacogenetics of glucocorticoid replacement could optimize the treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Clinics, v. 66, n. 8, p. 1361-1365, 2011. (05/04726-0)

ROCIO R.D. COLETTA; ALEXANDER A.L. JORGE; CATARINA BRASIL D'ALVA; EMÍLIA M. PINTO; ANA ELISA C. BILLERBECK; PAULO R. PACHI; CARLOS A. LONGUI; RICARDO M. GARCIA; MARGARET BOGUSZEWSKI; IVO J.P. ARNHOLD; et al. Insulin-like growth factor 1 gene (CA)n repeats and a variable number of tandem repeats of the insulin gene in Brazilian children born small for gestational age. Clinics, v. 68, n. 6, p. 785-791, 2013-06-00. (05/04726-0)

FRANCA, MARCELA M.; JORGE, ALEXANDER A. L.; CARVALHO, LUCIANI R. S.; COSTALONGA, EVERLAYNY F.; OTTO, ALINE P.; CORREA, FERNANDA A.; MENDONCA, BERENICE B.; ARNHOLD, IVO J. P.. Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly. CLINICAL ENDOCRINOLOGY, v. 78, n. 4, p. 551-557, APR 2013. (05/04726-0)

MOURA-MASSARI, VIVIAN OLIVEIRA; CUNHA, FLAVIA SIQUEIRA; GOMES, LARISSA GARCIA; DINIZ GOMES, DIOGO BUGANO; MIGUEL MARCONDES, JOSE ANTONIO; MADUREIRA, GUIOMAR; DE MENDONCA, BERENICE BILHARINHO; SARTORI SANCHEZ BACHEGA, TANIA A.. The Presence of Clitoromegaly in the Nonclassical Form of 21-Hydroxylase Deficiency Could Be Partially Modulated by the CAG Polymorphic Tract of the Androgen Receptor Gene. PLoS One, v. 11, n. 2, FEB 5 2016. (14/07878-4, 08/51624-6, 05/04726-0)

FERREIRA, LIZE V.; SOUZA, SILVIA C. A. L.; MONTENEGRO, LUCIANA R.; MALAQUIAS, ALEXSANDRA C.; ARNHOLD, IVO J. P.; MENDONCA, BERENICE B.; JORGE, ALEXANDER A. L.. Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients. CLINICAL ENDOCRINOLOGY, v. 69, n. 3, p. 6-pg., 2008-09-01. (05/04726-0)

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, 05/04726-0)