Publicações científicas
(44)
(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)
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.
Citações Web of Science: 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.
Citações Web of Science: 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.
Citações Web of Science: 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.
Citações Web of Science: 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.
Citações Web of Science: 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.
Citações Web of Science: 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.
Citações Web of Science: 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.
Citações Web of Science: 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.
Citações Web of Science: 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.
Citações Web of Science: 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.
Citações Web of Science: 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.
Citações Web of Science: 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.
Citações Web of Science: 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.
Citações Web of Science: 12.
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.
Citações Web of Science: 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.
Citações Web of Science: 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.
Citações Web of Science: 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.
Citações Web of Science: 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.
Citações Web of Science: 5.
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.
Citações Web of Science: 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.
Citações Web of Science: 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.
Citações Web of Science: 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.
Citações Web of Science: 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.
Citações Web of Science: 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.
Citações Web of Science: 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.
Citações Web of Science: 21.
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.
Citações Web of Science: 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.
Citações Web of Science: 43.
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.
Citações Web of Science: 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.
Citações Web of Science: 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.
Citações Web of Science: 5.
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.
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;
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.