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Alexander Augusto de Lima Jorge

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Universidade de São Paulo (USP). Faculdade de Medicina (FM)  (Institutional affiliation for the last research proposal)
Birthplace: Brazil

Actual position: Associate Professor of Medicine at The University of Sao Paulo (USP), School of Medicine. Internal Medicine Department - Endocrinology Division. Positions: Professor at graduation course, post-graduation adviser, physician in charge of inpatients and Principal investigator of Genetic-Endocrinology Unit.

Member of International Advisory Committee (IAC) of The Endrocine Reviews (2016-2018)

PRIMARY MEDICAL QUALIFICATION - 1993: Medical Degree- Faculdade de Ciências Médicas da Santa Casa de São Paulo, Sao Paulo, Brazil.

POST GRADUATE QUALIFICATION - 2002: Doctorate?s Degree - Field of Medicine: Pediatric Endocrinology. Thesis: ?Molecular Study of GH receptor in children with idiopathic short stature?, at the University of Sao Paulo School of Medicine (FMUSP), Sao Paulo, Brazil.

TRAINING POSITIONS: 
1994-1995: Residency in Internal Medicine at the University of São Paulo School of Medicine (FMUSP), Sao Paulo, Brazil.
1995-1997: Residency in Endocrinology and Metabolism at the University of São Paulo School of Medicine (FMUSP), Sao Paulo, Brazil.
1997-2002: Fellow in Pediatric Endocrinology at the University of São Paulo School of Medicine (FMUSP) Developmental Endocrinology Unit, Sao Paulo, Brazil.
2003-2004: Postdoctoral trainee in the Growth Factor Laboratory, Department of Endocrinology at St Bartholomew?s Hospital with Cecilia Camacho-Hübner, MD).
2004-2006: Postdoctoral fellowship in Developmental Endocrinology Unit, Sao Paulo, Brazil. Mean research: ?Studies of GH and IGF-I sensitivity in children with idiopathic short stature and Noonan syndrome?.

Brief biography: Dr. Alexander Jorge is a Physician and an Associated Professor in the Endocrinology Division at The University of São Paulo, School of Medicine. He is a clinical endocrinologist as well as a translational researcher. He is responsible for the treatment of children with short stature in Hospital das Clínicas de São Paulo. Dr Jorge is a co-principal investigator at Developmental Endocrinology Unit and Genetic Endocrinology Unit. His research is centered on understanding mechanisms leading to disordered growth and development. (Source: Lattes Curriculum)

Research grants
Scholarships in Brazil
FAPESP support in numbers * Updated April 10, 2021
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Keywords used by the researcher
Scientific publications resulting from Research Grants and Scholarships under the grantee's responsibility (68)

(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)

Publications62
Citations676
Cit./Article10.9
Data from Web of Science

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, . Web of Science Citations: 0. (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, . Web of Science Citations: 0. (13/03236-5, 16/03318-0)

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, . Web of Science Citations: 1. (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, . Web of Science Citations: 3. (13/02162-8, 15/26563-7, 13/03236-5)

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, . Web of Science Citations: 2. (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, . Web of Science Citations: 6. (13/06391-1, 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+, . Web of Science Citations: 4. (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, . Web of Science Citations: 18. (13/06391-1, 13/03236-5)

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, . Web of Science Citations: 2. (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, . Web of Science Citations: 4. (13/03236-5)

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, . Web of Science Citations: 12. (11/15078-0, 10/19809-6, 13/03236-5)

VASQUES, GABRIELA A.; AMANO, NAOKO; DOCKO, ANA J.; FUNARI, MARIANA F. A.; QUEDAS, ELISANGELA P. S.; NISHI, MIRIAN Y.; ARNHOLD, IVO J. P.; HASEGAWA, TOMONOBU; JORGE, ALEXANDER A. L.. Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 98, n. 10, p. E1636-E1644, . Web of Science Citations: 46. (11/11801-9, 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, . Web of Science Citations: 0. (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, . Web of Science Citations: 0. (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, . Web of Science Citations: 12. (16/03318-0, 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, . Web of Science Citations: 23. (11/11801-9, 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, . Web of Science Citations: 47. (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, . Web of Science Citations: 0. (13/03236-5)

LEAL, ANDREA C.; MONTENEGRO, LUCIANA R.; SAITO, RENATA F.; RIBEIRO, TAMAYA C.; COUTINHO, DEBORA C.; MENDONCA, BERENICE B.; ARNHOLD, IVO J. P.; JORGE, ALEXANDER A. L.. Analysis of the insulin-like growth factor 1 receptor gene in children born small for gestational age: in vitro characterization of a novel mutation (p.Arg511Trp). CLINICAL ENDOCRINOLOGY, v. 78, n. 4, p. 558-563, . Web of Science Citations: 9.

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, . Web of Science Citations: 9. (13/03236-5)

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, . Web of Science Citations: 1. (13/03236-5)

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, . Web of Science Citations: 13. (13/03236-5, 13/02162-8)

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, . Web of Science Citations: 4. (13/03236-5, 15/26563-7)

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, . Web of Science Citations: 1. (13/03236-5, 13/02162-8, 15/26563-7)

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, . Web of Science Citations: 2. (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, . Web of Science Citations: 6. (13/03236-5, 13/02162-8)

MONTENEGRO, JR., RENAN MAGALHAES; COSTA-RIQUETTO, ALINE DANTAS; FERNANDES, VIRGINIA OLIVEIRA; DIAS RANGEL MONTENEGRO, ANA PAULA; DE SANTANA, LUCAS SANTOS; DE LIMA JORGE, ALEXANDER AUGUSTO; DE AZEVEDO SOUZA KARBAGE, LIA BEATRIZ; AGUIAR, LINDENBERG BARBOSA; COSTA CARVALHO, FRANCISCO HERLANIO; TELES, MILENA GURGEL; et al. Homozygous and Heterozygous Nuclear Lamin A p.R582C Mutation: Different Lipodystrophic Phenotypes in the Same Kindred. FRONTIERS IN ENDOCRINOLOGY, v. 9, . Web of Science Citations: 2. (13/02162-8, 13/19920-2)

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, . Web of Science Citations: 4. (13/03236-5)

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, . Web of Science Citations: 5. (09/00898-1, 13/03236-5, 13/08028-1, 15/26980-7)

EVERLAYNY F. COSTALONGA; ALEXANDER A. L. JORGE; BERENICE B. MENDONÇA; IVO J. P. ARNHOLD. Modelos matemáticos para previsão de resposta ao tratamento com hormônio de crescimento. Arquivos Brasileiros de Endocrinologia e Metabologia, v. 52, n. 5, p. -, .

ALEXSANDRA C. MALAQUIAS; LIZE V. FERREIRA; SILVIA C. SOUZA; IVO J. P. ARNHOLD; BERENICE B. MENDONÇA; ALEXANDER A. L. JORGE. Síndrome de Noonan: do fenótipo à terapêutica com hormônio de crescimento. Arquivos Brasileiros de Endocrinologia e Metabologia, v. 52, n. 5, p. -, .

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, . Web of Science Citations: 15. (13/03236-5)

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, . Web of Science Citations: 9. (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, . Web of Science Citations: 9. (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, . Web of Science Citations: 3. (13/03236-5, 13/02162-8, 15/26563-7)

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, . Web of Science Citations: 2. (13/03236-5)

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, . Web of Science Citations: 1. (13/03236-5)

JORGE‚ A.A.L.; SOUZA‚ S.C.A.L.; ARNHOLD‚ I.J.P.; MENDONCA‚ B.B.. The first homozygous mutation (S226I) in the highly-conserved WSXWS-like motif of the GH receptor causing Laron syndrome: supression of GH secretion by GnRH analogue therapy not restored by dihydrotestosterone administration. Clinical Endocrinology, v. 60, n. 1, p. 36-40, . (00/14092-4)

QUAIO, CAIO R. D. C.; CARVALHO, JOZELIO F.; DA SILVA, CLOVIS A.; BUENO, CLEONICE; BRASIL, AMANDA S.; PEREIRA, ALEXANDRE C.; JORGE, ALEXANDER A. L.; MALAQUIAS, ALEXSANDRA C.; KIM, CHONG A.; BERTOLA, DEBORA R.. Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 158A, n. 5, p. 1077-1082, . Web of Science Citations: 20.

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, . Web of Science Citations: 9. (05/04726-0)

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, . Web of Science Citations: 0. (17/23892-5, 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, . Web of Science Citations: 0. (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, . Web of Science Citations: 0. (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, . Web of Science Citations: 0. (13/03236-5)

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, . Web of Science Citations: 34. (05/04726-0)

MALAQUIAS, ALEXSANDRA C.; BRASIL, AMANDA S.; PEREIRA, ALEXANDRE C.; ARNHOLD, IVO J. P.; MENDONCA, BERENICE B.; BERTOLA, DEBORA R.; JORGE, ALEXANDER A. L.. Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 158A, n. 11, p. 2700-2706, . Web of Science Citations: 24.

PUGLIESE-PIRES, PATRICIA N.; FORTIN, JEAN-PHILIPPE; ARTHUR, THAIS; LATRONICO, ANA CLAUDIA; MENDONCA, BERENICE B.; VILLARES, SANDRA MARA F.; PARNHOLD, IVO J.; KOPIN, ALAN S.; JORGE, ALEXANDER A. L.. Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty. EUROPEAN JOURNAL OF ENDOCRINOLOGY, v. 165, n. 2, p. 233-241, . Web of Science Citations: 26. (09/00313-3)

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, . Web of Science Citations: 26. (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, . Web of Science Citations: 2. (13/03236-5, 10/05188-0)

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, . Web of Science Citations: 12. (13/03236-5, 10/19809-6, 11/15078-0)

VASQUES, GABRIELA A.; AMANO, NAOKO; DOCKO, ANA J.; FUNARI, MARIANA F. A.; QUEDAS, ELISANGELA P. S.; NISHI, MIRIAN Y.; ARNHOLD, IVO J. P.; HASEGAWA, TOMONOBU; JORGE, ALEXANDER A. L.. Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 98, n. 10, p. E1636-E1644, . Web of Science Citations: 46. (11/11801-9, 13/03236-5)

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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, . Web of Science Citations: 12. (16/03318-0, 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, . Web of Science Citations: 7. (13/03236-5, 15/26980-7)

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, . Web of Science Citations: 9. (13/02162-8, 13/03236-5, 15/26980-7)

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MALAQUIAS, ALEXSANDRA C.; SCALCO, RENATA C.; FONTENELE, EVELINE G. P.; COSTALONGA, EVERLAYNY F.; BALDIN, ALEXANDRE D.; BRAZ, ADRIANA F.; FUNARI, MARIANA F. A.; NISHI, MIRIAN Y.; GUERRA-JUNIOR, GIL; MENDONCA, BERENICE B.; et al. The Sitting Height/Height Ratio for Age in Healthy and Short Individuals and Its Potential Role in Selecting Short Children for SHOX Analysis. Hormone Research in Paediatrics, v. 80, n. 6, p. 449-456, . Web of Science Citations: 27. (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, . Web of Science Citations: 9. (13/03236-5)

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, . Web of Science Citations: 16. (09/00898-1, 13/03236-5)

LEAL, ANDREA C.; MONTENEGRO, LUCIANA R.; SAITO, RENATA F.; RIBEIRO, TAMAYA C.; COUTINHO, DEBORA C.; MENDONCA, BERENICE B.; ARNHOLD, IVO J. P.; JORGE, ALEXANDER A. L.. Analysis of the insulin-like growth factor 1 receptor gene in children born small for gestational age: in vitro characterization of a novel mutation (p.Arg511Trp). CLINICAL ENDOCRINOLOGY, v. 78, n. 4, p. 558-563, . Web of Science Citations: 9.

PUGLIESE-PIRES, PATRICIA N.; TONELLI, CARLOS A.; DORA, JOSE M.; SILVA, PAULO C. A.; CZEPIELEWSKI, MAURO; SIMONI, GENOIR; ARNHOLD, IVO J. P.; JORGE, ALEXANDER A. L.. A novel STAT5B mutation causing GH insensitivity syndrome associated with hyperprolactinemia and immune dysfunction in two male siblings. EUROPEAN JOURNAL OF ENDOCRINOLOGY, v. 163, n. 2, p. 349-355, . Web of Science Citations: 29. (09/00313-3)

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, . Web of Science Citations: 12. (05/04726-0)

JORGE, ALEXANDER A. L.; SOUZA, SILVIA C.; NISHI, MIRIAM Y.; BILLERBECK, ANA E.; LIBÓRIO, DÉBORA C. C.; KIM, CHONG A.; ARNHOLD, IVO J. P.; MENDONÇA, BERENICE B.. SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability. Clinical Endocrinology, v. 66, n. 1, p. 130-135, . (00/14092-4)

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, . Web of Science Citations: 1. (13/03236-5, 18/10893-6)

Academic Publications

(References retrieved automatically from State of São Paulo Research Institutions)

TIRAPELI, Renata da Cunha Scalco. Estudo da mutação da STAT5B em Criciúma-Santa Catarina: frequência e caracterização fenotípica de indivíduos heterozigotos. Tese (Doutorado) -  Faculdade de Medicina.  Universidade de São Paulo (USP).  São Paulo.  (11/15078-0

MONTENEGRO, Luciana Ribeiro. Estudo in vitro da sensibilidade ao IGF-1 de fibroblastos de crianças nascidas pequenas para a idade gestacional sem recuperação estatural pós-natal. Tese (Doutorado) -  Faculdade de Medicina.  Universidade de São Paulo (USP).  São Paulo.  (05/50144-2

COSTALONGA, Everlayny Fiorot. Farmacogenética do tratamento com hormônio de crescimento (GH) em crianças com deficiência de GH. Tese (Doutorado) -  Faculdade de Medicina.  Universidade de São Paulo (USP).  São Paulo.  (06/55763-5

HOMMA, Thais Kataoka. Técnicas de análise genômica permitem estabelecer o diagnóstico etiológico de crianças com baixa estatura de causa desconhecida. Tese (Doutorado) -  Faculdade de Medicina.  Universidade de São Paulo (USP).  São Paulo.  (15/26980-7

VASQUES, Gabriela de Andrade. Mutações em heterozigose no gene do receptor tipo B dos peptídeos natriuréticos (NPR2) são causa de baixa estatura inicialmente classificada como idiopática. Tese (Doutorado) -  Faculdade de Medicina.  Universidade de São Paulo (USP).  São Paulo.  (11/11801-9

LEAL, Andréa de Castro. Caracterização da insensibilidade ao fator de crescimento insulina-símile tipo 1 em pacientes com defeitos no receptor tipo 1 de IGFs (IGF-1R). Tese (Doutorado) -  Faculdade de Medicina.  Universidade de São Paulo (USP).  São Paulo.  (08/57915-2

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