Browsing by Author Gil-da-Silva-Lopes, VL

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Showing results 1 to 12 of 12
PreviewIssue DateTitleAuthor(s)AdvisorType
2005Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)Zenker, M; Mayerle, J; Lerch, MM; Tagariello, A; Zerres, K; Durie, PR; Beier, M; Hulskamp, G; Guzman, C; Rehder, H; Beemer, FA; Hamel, B; Vanlieferinghen, P; Gershoni-Baruch, R; Vieira, MW; Dumic, M; Auslender, R; Gil-da-Silva-Lopes, VL; Steinlicht, S; Rauh, M; Shalev, SA; Thiel, C; Winterpacht, A; Kwon, YT; Varshavsky, A; Reis, A-Artigo de periódico
2013Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literatureMonteiro, FP; Vieira, TP; Sgardioli, IC; Molck, MC; Damiano, AP; Souza, J; Monlleo, IL; Fontes, MIB; Fett-Conte, AC; Felix, TM; Leal, GF; Ribeiro, EM; Banzato, CEM; Dantas, CD; Lopes-Cendes, I; Gil-da-Silva-Lopes, VL-Artigo de periódico
2013Partial monosomy 21 (q11.2 -> q21.3) combined with 3p25.3 -> pter monosomy due to an unbalanced translocation in a patient presenting dysmorphic features and developmental delaydos Santos, AP; Vieira, TP; Simioni, M; Monteiro, FP; Gil-da-Silva-Lopes, VL-Artigo de periódico
2013A new case of partial 14q31.3-qter trisomy due to maternal pericentric inversionSgardioli, IC; Simioni, M; Viguetti-Campos, NL; Prota, JR; Gil-da-Silva-Lopes, VL-Artigo de periódico
2013Feeding Infants With Cleft Lip and/or Palate in Brazil: Suggestions to Improve Health Policy and ResearchGil-da-Silva-Lopes, VL; Xavier, AC; Klein-Antunes, D; Ferreira, ACRG; Tonocchi, R; Fett-Conte, AC; Silva, RN; Leiriao, VHV; Caramori, LPC; Magna, LA; Amstalden-Mendes, LG-Artigo de periódico
2009Evaluation of Craniofacial Care Outside the Brazilian Reference Network for Craniofacial TreatmentMonlleo, IL; Mossey, PA; Gil-da-Silva-Lopes, VL-Artigo de periódico
2005Congenital temporomandibular joint ankylosis: Clinical characterization and natural history of four unrelated affected individualsGil-da-Silva-Lopes, VL; Luquetti, DV-Artigo de periódico
2013Local Strategies to Address Health Needs of Individuals With Orofacial Clefts in Alagoas, BrazilFontes, MIB; Almeida, LN; Reis, GD; Vieira, JI; dos Santos, KM; dos Anjos, FS; de Andrade, AKM; Porciuncula, CGG; de Oliveira, MC; Pereira, RM; Vieira, TAP; Viguetti-Campos, NL; Gil-da-Silva-Lopes, VL; Monlleo, IL-Artigo de periódico
2013Atypical copy number abnormalities in 22q11.2 region: Report of three casesMolck, MC; Vieira, TP; Sgardioli, IC; Simioni, M; dos Santos, AP; Souza, J; Monteiro, FP; Gil-da-Silva-Lopes, VL-Artigo de periódico
2006Q289P mutation in FGFR2 gene causes Saethre-Chotzen syndrome: Some considerations about familial heterogeneityde Freitas, ECLB; Nascimento, SRD; de Mello, MP; Gil-da-Silva-Lopes, VL-Artigo de periódico
2010Investigation of the 22q11.2 candidate region in patients with midline facial defects with hypertelorismSimioni, M; Freitas, EL; Vieira, TP; Lopes-Cendes, I; Gil-da-Silva-Lopes, VL-Artigo de periódico
2011Maternally Inherited Partial Monosomy 9p (pter -> p24.1) and Partial Trisomy 20p (pter -> p12.1) Characterized by Microarray Comparative Genomic HybridizationFreitas, EL; Gribble, SM; Simioni, M; Vieira, TP; Silva-Grecco, RL; Balarin, MAS; Prigmore, E; Krepischi-Santos, AC; Rosenberg, C; Szuhai, K; van Haeringen, A; Carter, NP; Gil-da-Silva-Lopes, VL-Artigo de periódico