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Débora Romeo Bertola

CV Lattes


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

graduate at Medicina from Faculdade de Ciências Médicas e Biológicas PUC-SP (1990), master's at Pediatria from Faculdade de Medicina da Universidade de São Paulo (1999) and ph.d. at Pediatria from Faculdade de Medicina da Universidade de São Paulo (2006). Has experience in Medicine, acting on the following subjects: mucopolissacaridose vi, síndrome de williams, síndrome de noonan, anormalidades múltiplas/genética and fluorescência em hibridização in situ. (Source: Lattes Curriculum)

Research grants
FAPESP support in numbers * Updated February 22, 2020
Total / Available in English
1 / 1 Ongoing research grants
5 / 4 Completed research grants
2 / 0 Completed scholarships in Brazil
8 / 5 All research grants and scholarships

Associated processes
Most frequent collaborators in research granted by FAPESP
Contact researcher

Use this Research Supported by FAPESP (BV/FAPESP) channel only to send messages referring to FAPESP-funded scientific projects.


 

 

 

 

Keywords used by the researcher
Scientific publications resulting from Research Grants and Scholarships under the grantee's responsibility (14)

(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)

Publications14
Citations229
Cit./Article16.4
Data from Web of Science

BRASIL, AMANDA SALEM; MALAQUIAS, ALEXSANDRA C.; WANDERLEY, LUCIANA TUROLLA; KIM, CHONG AE; KRIEGER, JOSE EDUARDO; JORGE, ALEXANDER A. L.; PEREIRA, ALEXANDRE C.; BERTOLA, DEBORA ROMEO. Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?. Arquivos Brasileiros de Endocrinologia e Metabologia, v. 54, n. 8, SI, p. 717-722, . Web of Science Citations: 9.

BRASIL, AMANDA SALEM; PEREIRA, ALEXANDRE C.; WANDERLEY, LUCIANA TUROLLA; KIM, CHONG AE; MALAQUIAS, ALEXSANDRA C.; JORGE, ALEXANDER A. L.; KRIEGER, JOSE EDUARDO; BERTOLA, DEBORA ROMEO. PTPN11 and KRAS Gene Analysis in Patients with Noonan and Noonan-Like Syndromes. GENETIC TESTING AND MOLECULAR BIOMARKERS, v. 14, n. 3, p. 425-432, . Web of Science Citations: 19.

ALTMUELLER, FRANZISKA; LISSEWSKI, CHRISTINA; BERTOLA, DEBORA; FLEX, ELISABETTA; STARK, ZORNITZA; SPRANGER, STEPHANIE; BAYNAM, GARETH; BUSCARILLI, MICHELLE; DYACK, SARAH; GILLIS, JANE; et al. Genotype and phenotype spectrum of NRAS germline variants. European Journal of Human Genetics, v. 25, n. 7, p. 823-831, . Web of Science Citations: 7. (11/17299-3, 13/08028-1)

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.

BRASIL, AMANDA S.; MALAQUIAS, ALEXSANDRA C.; KIM, CHONG A.; KRIEGER, JOSE EDUARDO; JORGE, ALEXANDER A. L.; PEREIRA, ALEXANDRE C.; BERTOLA, DEBORA R.. KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: Report of another family with metopic craniosynostosis. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 158A, n. 5, p. 1178-1184, . Web of Science Citations: 7.

GUO, LONG; BERTOLA, DEBORA ROMEO; TAKANOHASHI, ASAKO; SAITO, ASUKA; SEGAWA, YUKO; YOKOTA, TAKANORI; ISHIBASHI, SATORU; NISHIDA, YOICHIRO; YAMAMOTO, GUILHERME LOPES; DA SILVA FRANCO, JOSE FRANCISCO; et al. Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation. American Journal of Human Genetics, v. 104, n. 5, p. 925-935, . Web of Science Citations: 7. (13/08028-1, 15/21783-9)

YAMAMOTO, GUILHERME LOPES; AGUENA, MEIRE; GOS, MONIKA; HUNG, CHRISTINA; PILCH, JACEK; FAHIMINIYA, SOMAYYEH; ABRAMOWICZ, ANNA; CRISTIAN, INGRID; BUSCARILLI, MICHELLE; NASLAVSKY, MICHEL SATYA; et al. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. JOURNAL OF MEDICAL GENETICS, v. 52, n. 6, p. 413-421, . Web of Science Citations: 66. (11/17299-3, 98/14254-2)

BERTOLA, DEBORA R.; YAMAMOTO, GUILHERME L.; ALMEIDA, TATIANA F.; BUSCARILLI, MICHELLE; JORGE, ALEXANDER A. L.; MALAQUIAS, ALEXSANDRA C.; KIM, CHONG A.; TAKAHASHI, VANESSA N. V.; PASSOS-BUENO, MARIA RITA; PEREIRA, ALEXANDRE C.. Further Evidence of the Importance of RIT1 in Noonan Syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 164, n. 11, p. 2952-2957, . Web of Science Citations: 28. (11/17299-3)

BURRAGE, LINDSAY C.; REYNOLDS, JOHN J.; BARATANG, NISSAN VIDA; PHILLIPS, JENNIFER B.; WEGNER, JEREMY; MCFARQUHAR, ASHLEY; HIGGS, MARTIN R.; CHRISTIANSEN, AUDREY E.; LANZA, DENISE G.; SEAVITT, JOHN R.; et al. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. American Journal of Human Genetics, v. 104, n. 3, p. 422-438, . Web of Science Citations: 0. (13/08028-1, 15/21783-9)

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.

BERTOLA, D. R.; HSIA, G.; ALVIZI, L.; GARDHAM, A.; WAKELING, E. L.; YAMAMOTO, G. L.; HONJO, R. S.; OLIVEIRA, L. A. N.; DI FRANCESCO, R. C.; PEREZ, B. A.; et al. Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrum. Clinical Genetics, v. 93, n. 4, p. 800-811, . Web of Science Citations: 2. (15/21783-9)

PITTA MARIN, LENINA DA ROCHA; GASPAR CARVALHO DA SILVA, FELIPE THEODORO BEZERRA; FERREIRA DE SA, LUIS CARLOS; BRASIL, AMANDA SALEM; PEREIRA, ALEXANDRE; FURQUIM, ISABEL MOSCA; KIM, CHONG AE; BERTOLA, DEBORA ROMEO. Ocular manifestations of Noonan syndrome. OPHTHALMIC GENETICS, v. 33, n. 1, p. 1-5, . Web of Science Citations: 4.

LEE, CHAE SYNG; FU, HE; BARATANG, NISSAN; ROUSSEAU, JUSTINE; KUMRA, HEENA; SUTTON, V. REID; NICETA, MARCELLO; CIOLFI, ANDREA; YAMAMOTO, GUILHERME; BERTOLA, DEBORA; et al. Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with ``Corner Fractures''. American Journal of Human Genetics, v. 101, n. 5, p. 815-823, . Web of Science Citations: 9. (13/08028-1, 15/21783-9)

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)

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