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Denise Pontes Cavalcanti

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Universidade Estadual de Campinas (UNICAMP). Faculdade de Ciências Médicas (FCM)  (Institutional affiliation for the last research proposal)
Birthplace: Brazil

bachelor's at Medicina from Universidade Federal da Paraíba (1981), master's at Genetics from Universidade de São Paulo (1986) and doctorate at Clinical Medicine from Universidade Estadual de Campinas (1990). Has experience in Medicine, acting on the following subjects: defeito de fechamento de tubo neural, malformacões congênitas, malformações congênitas, anomalias cromossômicas and skeletal dysplasia. (Source: Lattes Curriculum)

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Scholarships in Brazil
FAPESP support in numbers * Updated May 30, 2020
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Use this Research Supported by FAPESP (BV/FAPESP) channel only to send messages referring to FAPESP-funded scientific projects.


 

 

 

 

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Scientific publications resulting from Research Grants and Scholarships under the grantee's responsibility (13)

(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)

Publications11
Citations81
Cit./Article7.4
Data from Web of Science

ARAUJO, THAIS FENZ; RIBEIRO, ERLANE MARQUES; ARRUDA, ANDERSON PONTES; MORENO, CAROLINA ARAUJO; VASCONCELOS DE MEDEIROS, PAULA FRASSINETTI; MINILLO, RENATA MOLDENHAUER; MELO, DEBORA GUSMAO; KIM, CHONG AE; RODOVALHO DORIQUI, MARIA JULIANA; FELIX, TEMIS MARIA; et al. Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region. EUROPEAN JOURNAL OF MEDICAL RESEARCH, v. 21, . Web of Science Citations: 6. (15/22145-6)

BRANCATI‚ F.; BERNARDINI‚ L.; CAVALCANTI‚ DP; ROMANO‚ C.; NOVELLI‚ A.; DALLAPICCOLA‚ B.. Genome rearrangements in patients with blepharophimosis‚ mental retardation and hypothyroidism‚ so-called Young-Simpson syndrome. Clinical Genetics, v. 76, n. 2, p. 210-213, .

CAVALCANTI, DENISE P.; HUBER, CELINE; SANG, KIM-HANH LE QUAN; BAUJAT, GENEVIEVE; COLLINS, FELICITY; DELEZOIDE, ANNE-LISE; DAGONEAU, NATHALIE; LE MERRER, MARTINE; MARTINOVIC, JELENA; MELLO, MARCOS FERNANDO S.; et al. Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum. JOURNAL OF MEDICAL GENETICS, v. 48, n. 2, p. 88-92, . Web of Science Citations: 38.

BARBOSA-BUCK, CECILIA O.; ORIOLI, IEDA M.; DUTRA, MARIA DA GRACA; LOPEZ-CAMELO, JORGE; CASTILLA, EDUARDO E.; CAVALCANTI, DENISE P.. Clinical epidemiology of skeletal dysplasias in South America. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 158A, n. 5, p. 1038-1045, . Web of Science Citations: 22.

DANIELLE R. LUCON; LUCIENE M. ZANCHETTA; DENISE P. CAVALCANTI. Chimerism 47,XY,+21/46,XX in a female infant with anencephaly and other congenital defects. GENETICS AND MOLECULAR BIOLOGY, v. 29, n. 1, p. 36-37, .

CHANG, HAE RYUNG; CHO, SUNG YOON; LEE, JAE HOON; LEE, EUNKYUNG; SEO, JIEUN; LEE, HYE RAN; CAVALCANTI, DENISE P.; MAKITIE, OUTI; VALTA, HELENA; GIRISHA, KATTA M.; et al. Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia. American Journal of Human Genetics, v. 104, n. 3, p. 439-453, . Web of Science Citations: 1. (15/22145-6)

GOMES, MARIA E. S.; KANAZAWA, THATIANE Y.; RIBA, FERNANDA R.; PEREIRA, NATALYA G.; ZUMA, MARIA C. C.; RABELO, NATANA C.; SANSEVERINO, MARIA T.; HOROVITZ, DAFNE D. G.; LLERENA, JR., JUAN C.; CAVALCANTI, DENISE P.; et al. Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia. MOLECULAR SYNDROMOLOGY, v. 9, n. 2, p. 92-99, . Web of Science Citations: 5. (15/22145-6)

JAZMIN LACARRUBBA-FLORES, MARIA DORA; CARVALHO, DANIEL ROCHA; RIBEIRO, ERLANE MARQUES; MORENO, CAROLINA ARAUJO; ESPOSITO, ANA CAROLINA; LIMA MARSON, FERNANDO AUGUSTO; LOUREIRO, THEREZA; CAVALCANTI, DENISE PONTES. Femoral-facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pair. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 176, n. 9, p. 1917-1928, . Web of Science Citations: 2. (15/22145-6)

SILVEIRA, KARINA C.; MORENO, CAROLINA A.; CAVALCANTI, DENISE P.. Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 173, n. 5, p. 1186-1189, . Web of Science Citations: 7. (15/22145-6)

MOOSA, SHAHIDA; YAMAMOTO, GUILHERME L.; GARBES, LUTZ; KEUPP, KATHARINA; BELEZA-MEIRELES, ANA; MORENO, CAROLINA ARAUJO; VALADARES, EUGENIA RIBEIRO; DE SOUSA, SERGIO B.; MAIA, SOFIA; SARAIVA, JORGE; et al. Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta. American Journal of Human Genetics, v. 105, n. 4, p. 836-843, . Web of Science Citations: 0. (13/08028-1, 15/22145-6)

CAVALCANTI, DENISE P.; HUBER, CELINE; SANG, KIM-HANH LE QUAN; BAUJAT, GENEVIEVE; COLLINS, FELICITY; DELEZOIDE, ANNE-LISE; DAGONEAU, NATHALIE; LE MERRER, MARTINE; MARTINOVIC, JELENA; MELLO, MARCOS FERNANDO S.; et al. Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum. JOURNAL OF MEDICAL GENETICS, v. 48, n. 2, p. 88-92, . Web of Science Citations: 38.

BRANCATI‚ F.; BERNARDINI‚ L.; CAVALCANTI‚ DP; ROMANO‚ C.; NOVELLI‚ A.; DALLAPICCOLA‚ B.. Genome rearrangements in patients with blepharophimosis‚ mental retardation and hypothyroidism‚ so-called Young-Simpson syndrome. Clinical Genetics, v. 76, n. 2, p. 210-213, .

BARBOSA-BUCK, CECILIA O.; ORIOLI, IEDA M.; DUTRA, MARIA DA GRACA; LOPEZ-CAMELO, JORGE; CASTILLA, EDUARDO E.; CAVALCANTI, DENISE P.. Clinical epidemiology of skeletal dysplasias in South America. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 158A, n. 5, p. 1038-1045, . Web of Science Citations: 22.

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