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Denise Pontes Cavalcanti
Denise Pontes Cavalcanti
Professor, Medicine School, Universidade Estadual de Campinas, UNICAMP
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Titolo
Citata da
Citata da
Anno
Possible association between Zika virus infection and microcephaly—Brazil, 2015
L Schuler-Faccini
MMWR. Morbidity and mortality weekly report 65, 2016
14642016
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III
N Dagoneau, M Goulet, D Geneviève, Y Sznajer, J Martinovic, S Smithson, ...
The American Journal of Human Genetics 84 (5), 706-711, 2009
2572009
The phenotypic spectrum of congenital Zika syndrome
M Del Campo, IML Feitosa, EM Ribeiro, DDG Horovitz, ALS Pessoa, ...
American Journal of Medical Genetics Part A 173 (4), 841-857, 2017
2562017
High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes
A Splendore, EO Silva, LG Alonso, A Richieri‐Costa, N Alonso, A Rosa, ...
Human Mutation 16 (4), 315-322, 2000
1632000
Prenatal exposure to misoprostol and vascular disruption defects: a case‐control study
FR Vargas, L Schuler‐Faccini, D Brunoni, C Kim, VFA Meloni, ...
American journal of medical genetics 95 (4), 302-306, 2000
1612000
Thalidomide, a current teratogen in South America
EE Castilla, P Ashton‐Prolla, E Barreda‐Mejia, D Brunoni, DP Cavalcanti, ...
Teratology 54 (6), 273-277, 1996
1511996
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders
M Nakajima, S Mizumoto, N Miyake, R Kogawa, A Iida, H Ito, H Kitoh, ...
The American Journal of Human Genetics 92 (6), 927-934, 2013
1352013
Brazilian Medical Genetics Society-Zika Embryopathy Task Force. 2016. Possible association between Zika virus infection and microcephaly—Brazil, 2015
L Schuler-Faccini, EM Ribeiro, IM Feitosa, DD Horovitz, DP Cavalcanti, ...
MMWR Morb Mortal Wkly Rep 65 (3), 59-62, 2016
1302016
Clinical epidemiology of skeletal dysplasias in South America
CO Barbosa‐Buck, IM Orioli, M da Graça Dutra, J Lopez‐Camelo, ...
American Journal of Medical Genetics Part A 158 (5), 1038-1045, 2012
1042012
Identification of CANT1 mutations in Desbuquois dysplasia
C Huber, B Oulès, M Bertoli, M Chami, M Fradin, Y Alanay, LI Al-Gazali, ...
The American Journal of Human Genetics 85 (5), 706-710, 2009
982009
Limb-reduction defects and chorion villus sampling
P Mastroiacovo, DP Cavalcanti, G Monni, RM Ibba, R Lai, G Olla, A Cao, ...
Lancet (London, England) 337 (8749), 1091-1092, 1991
981991
Rare genetic diseases: update on diagnosis, treatment and online resources
RE Pogue, DP Cavalcanti, S Shanker, RV Andrade, LR Aguiar, ...
Drug discovery today 23 (1), 187-195, 2018
902018
Limb anomalies following chorionic villus sampling: a registry based case‐control study
P Mastroiacovo, LD Botto, DP Cavalcanti, F Lalatta, A Selicorni, AE Tozzi, ...
American journal of medical genetics 44 (6), 856-864, 1992
841992
Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum
DP Cavalcanti, C Huber, KHLQ Sang, G Baujat, F Collins, AL Delezoide, ...
Journal of medical genetics 48 (2), 88-92, 2011
802011
Early exposure to yellow fever vaccine during pregnancy
DP Cavalcanti, MA Salomão, J Lopez‐Camelo, MA Pessoto, ...
Tropical Medicine & International Health 12 (7), 833-837, 2007
802007
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases
J El Hokayem, C Huber, A Couvé, J Aziza, G Baujat, R Bouvier, ...
Journal of medical genetics 49 (4), 227-233, 2012
712012
Molecular screening for microdeletions at 9p22‐p24 and 11q23‐q24 in a large cohort of patients with trigonocephaly
FS Jehee, D Johnson, LG Alonso, DP Cavalcanti, E de Sá Moreira, ...
Clinical genetics 67 (6), 503-510, 2005
642005
Possível associação entre a infecção pelo vírus zika e a microcefalia—Brasil, 2015
L Schuler-Faccini, EM Ribeiro, IML Feitosa, DDG Horovitz, DP Cavalcanti, ...
MMWR: morbidity and mortality weekly report, 2016
622016
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia
C Huber, EA Faqeih, D Bartholdi, C Bole-Feysot, Z Borochowitz, ...
The American Journal of Human Genetics 92 (1), 144-149, 2013
562013
Non‐immune hydrops fetalis: A prospective study of 53 cases
CA Moreno, T Kanazawa, R Barini, ML Nomura, KC Andrade, CP Gomes, ...
American Journal of Medical Genetics Part A 161 (12), 3078-3086, 2013
532013
Il sistema al momento non può eseguire l'operazione. Riprova più tardi.
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