Browsing by Author Cavalcanti, DP

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Showing results 1 to 17 of 17
PreviewIssue DateTitleAuthor(s)AdvisorType
2005Interphase-FISH study in three patients with tetraploid/diploid mosaicismCavalcanti, DP; Zanchetta, LM-Artigo de periódico
2011Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrumCavalcanti, DP; Huber, C; Sang, KHL; Baujat, G; Collins, F; Delezoide, AL; Dagoneau, N; Le Merrer, M; Martinovic, J; Mello, MFS; Vekemans, M; Munnich, A; Cormier-Daire, V-Artigo de periódico
2006Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patientsJehee, FS; Alonso, LG; Cavalcanti, DP; Kim, C; Wall, SA; Mulliken, JB; Sun, M; Jabs, EW; Boyadjiev, SA; Wilkie, AOM; Passos-Bueno, MR-Artigo de periódico
1999Dandy-Walker malformation with postaxial polydactyly: Further evidence for autosomal recessive inheritanceCavalcanti, DP; Salomao, MA-Artigo de periódico
2000Prenatal exposure to misoprostol and vascular disruption defects: A case-control studyVargas, FR; Schuler-Faccini, L; Brunoni, D; Kim, C; Meloni, VFA; Sugayama, SMM; Albano, L; Llerena, JC; Almeida, JCC; Duarte, A; Cavalcanti, DP; Goloni-Bertollo, E; Conte, A; Koren, G; Addis, A-Artigo de periódico
2013Non-immune Hydrops Fetalis: A Prospective Study of 53 CasesMoreno, CA; Kanazawa, T; Barini, R; Nomura, ML; Andrade, KC; Gomes, CP; Heinrich, JK; Giugliani, R; Burin, M; Cavalcanti, DP-Artigo de periódico
2005Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephalyJehee, FS; Johnson, D; Alonso, LG; Cavalcanti, DP; Moreira, ED; Alberto, FL; Kok, F; Kim, C; Wall, SA; Jabs, EW; Boyadjiev, SA; Wilkie, AOM; Passos-Bueno, MR-Artigo de periódico
2007Early exposure to yellow fever vaccine during pregnancyCavalcanti, DP; Salomao, MA; Lopez-Camelo, J; Pessoto, MA-Artigo de periódico
2013Exome Sequencing Identifies INPPL1 Mutations as a Cause of OpsismodysplasiaHuber, C; Faqeih, EA; Bartholdi, D; Bole-Feysot, C; Borochowitz, Z; Cavalcanti, DP; Frigo, A; Nitschke, P; Roume, J; Santos, HG; Shalev, SA; Superti-Furga, A; Delezoide, AL; Le Merrer, M; Munnich, A; Cormier-Daire, V-Artigo de periódico
2012NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer casesEl Hokayem, J; Huber, C; Couve, A; Aziza, J; Baujat, G; Bouvier, R; Cavalcanti, DP; Collins, FA; Cordier, MP; Delezoide, AL; Gonzales, M; Johnson, D; Le Merrer, M; Levy-Mozziconacci, A; Loget, P; Martin-Coignard, D; Martinovic, J; Mortier, GR; Perez, MJ; Roume, J; Scarano, G; Munnich, A; Cormier-Daire, V-Artigo de periódico
2000High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changesSplendore, A; Silva, EO; Alonso, LG; Richieri-Costa, A; Alonso, N; Rosa, A; Carakushanky, G; Cavalcanti, DP; Brunoni, D; Passos-Bueno, MR-Artigo de periódico
2007Fraser and ablepharon macrostomia phenotypes: Concurrence in one family and association with mutated FRAS1Cavalcanti, DP; Matejas, V; Luquetti, D; Mello, MF; Zenker, M-Artigo de periódico
2007Five cases of supernumerary small ring chromosomes 1: Heterogeneity and genotype-phenotype correlationBernardini, L; Capalbo, A; D'Avanzo, MG; Torrente, I; Grammatico, P; Dell'Edera, D; Cavalcanti, DP; Novelli, A; Dallapiccola, B-Artigo de periódico
2004Importance of the clinical genetics evaluation on hydrocephalusWey-Vieira, M; Cavalcanti, DP; Lopes, VLGS-Artigo de periódico
2004Scalp lesions in Turner syndrome: a result of lymphoedema?Auada, MP; Cintra, ML; Puzzi, MB; Viana, D; Cavalcanti, DP-Artigo de periódico
2009Identification of CANT1 Mutations in Desbuquois DysplasiaHuber, C; Oules, B; Bertoli, M; Chami, M; Fradin, M; Alanay, Y; Al-Gazali, LI; Ausems, MGEM; Bitoun, P; Cavalcanti, DP; Krebs, A; Le Merrer, M; Mortier, G; Shafeghati, Y; Superti-Furga, A; Robertson, SP; Le Goff, C; Muda, AO; Paterlini-Brechot, P; Munnich, A; Cormier-Daire, V-Artigo de periódico
2012Clinical epidemiology of skeletal dysplasias in South AmericaBarbosa-Buck, CO; Orioli, IM; Dutra, MD; Lopez-Camelo, J; Castilla, EE; Cavalcanti, DP-Artigo de periódico