Molecular characterization of congenital endocrine diseases that affect growth and development

• Grant number: 05/04726-0
• Support type: Research Projects - Thematic Grants
• Duration: August 01, 2006 - September 30, 2011
• Field of knowledge: Health Sciences - Medicine
• Principal Investigator: Ana Claudia Latronico Xavier
• Grantee: Ana Claudia Latronico Xavier
• Home Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil
• Co-Principal Investigators: Berenice Bilharinho de Mendonça ; Ivo Jorge Prado Arnhold ; Tania Aparecida Sartori Sanchez Bachega
• Assoc. 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

(44)

(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)

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; PAPAZIAN, REGINA; PEDROSO DE PAULA, LEILA CRISTINA; COSTA, EDUARDO CORREA; CARVALHO, LUCIANI RENATA; LIMA JORGE, ALEXANDER AUGUSTO; ELIAS, FELIPE MARTINS; MITCHELL, ROD; FRADE COSTA, ELAINE MARIA; MENDONCA, BERENICE BILHARINHO; DOMENICE, SORAHIA. 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. Web of Science Citations: 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. Web of Science Citations: 0.

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; CORREA, RAFAELA VIEIRA; MONTENEGRO, LUCIANA RIBEIRO; NARCISO, AMANDA; FRADE COSTA, ELAINE MARIA; ACHERMANN, JOHN C.; MENDONCA, BERENICE BILHARINHO. 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. Web of Science Citations: 12.

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. Web of Science Citations: 2.

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. Web of Science Citations: 22.

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. Web of Science Citations: 1.

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.; GUERRA JUNIOR, GIL; GUARAGNA FILHO, GUILHERME; GUCEV, ZORAN; ARNHOLD, IVO J. P.; DE CASTRO, MARGARET; MOREIRA, AYRTON C.; MARTINELLI, JR., CARLOS EDUARDO; HIRSCHHORN, JOEL N.; MENDONCA, BERENICE B.; BRITO, VINICIUS N.; ANTONINI, SONIR R.; KAISER, URSULA B.; LATRONICO, ANA CLAUDIA. 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. Web of Science Citations: 56.

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.; DE MELLO, MARICILDA P.; MACIEL-GUERRA, ANDREA T.; GUERRA-JUNIOR, GIL; MENDONCA, BERENICE B. Homozygous Inactivating Mutation in NANOS3 in Two Sisters with Primary Ovarian Insufficiency. BIOMED RESEARCH INTERNATIONAL, 2014. Web of Science Citations: 11.

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. Web of Science Citations: 7.

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.; RODRIGUES, TANIA; KOCHI, CRISTIANE; LONGUI, CARLOS ALBERTO; BECKERS, DOMINIQUE; DE ZEGHER, FRANCIS; MONTENEGRO, LUCIANA R.; MENDONCA, BERENICE B.; CARROLL, RONA S.; HIRSCHHORN, JOEL N.; LATRONICO, ANA CLAUDIA; KAISER, URSULA B. 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. Web of Science Citations: 170.

COLETTA, ROCIO R. D.; JORGE, ALEXANDER A. L.; D' ALVA, CATARINA BRASIL; PINTO, EMILIA M.; BILLERBECK, ANA ELISA C.; PACHI, PAULO R.; LONGUI, CARLOS A.; GARCIA, RICARDO M.; BOGUSZEWSKI, MARGARET; ARNHOLD, IVO J. P.; MENDONCA, BERENICE B.; COSTA, ELAINE M. F. 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, Jun. 2013. Web of Science Citations: 2.

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. Web of Science Citations: 20.

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. Web of Science Citations: 10.

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. Web of Science Citations: 12.

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. Web of Science Citations: 22.

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. Web of Science Citations: 13.

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. Web of Science Citations: 18.

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. Web of Science Citations: 9.

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. Web of Science Citations: 7.

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. Web of Science Citations: 13.

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. Web of Science Citations: 5.

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. Web of Science Citations: 6.

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. Web of Science Citations: 55.

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. Web of Science Citations: 15.

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.; LATRONICO, ANA CLAUDIA. 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. Web of Science Citations: 44.

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.; COSTA, ELAINE M. F.; DE MENDONCA, BERENICE BILHARINHO; DE CASTRO, MARGARET; LOFRANO, ADRIANA; HALL, JANET E.; BOLU, EROL; OZATA, METIN; QUINTON, RICHARD; AMORY, JOHN K.; STEWART, SUSAN E.; ARLT, WIEBKE; COLE, TREVOR R.; CROWLEY, WILLIAM F.; KAISER, URSULA B.; LATRONICO, ANA CLAUDIA; SEMINARA, STEPHANIE B. 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. Web of Science Citations: 134.

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.; ALVES, VENANCIO A. F.; MENDONCA, BERENICE B.; LATRONICO, ANA CLAUDIA. 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. Web of Science Citations: 48.

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. Web of Science Citations: 13.

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. Web of Science Citations: 21.

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. Web of Science Citations: 14.

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. Web of Science Citations: 34.

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. Web of Science Citations: 43.

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. Web of Science Citations: 39.

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. Web of Science Citations: 59.

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.

FUNARI, MARIANA F. A.; JORGE, ALEXANDER A. L.; PINTO, EMILIA M.; ARNHOLD, IVO J. P.; MENDONCA, BERENICE B.; NISH, MIRIAN Y. Cryptic Intragenic Deletion of the SHOX Gene in a Family with Leri-Weill Dyschondrosteosis Detected by Multiplex Ligation-Dependent Probe Amplification (MLPA). Arquivos Brasileiros de Endocrinologia e Metabologia, v. 52, n. 8, p. 1382-1387, NOV 2008. Web of Science Citations: 7.

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. Web of Science Citations: 69.

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. Web of Science Citations: 5.

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. -, Jul. 2008.

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.

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.

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.

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.

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.