| Defining new guidelines for screening the 22q11. 2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature FP Monteiro, TP Vieira, IC Sgardioli, MC Molck, AP Damiano, J Souza, ... European journal of pediatrics 172, 927-945, 2013 | 85 | 2013 |
| OCT4 immunohistochemistry may be necessary to identify the real risk of gonadal tumors in patients with Turner syndrome and Y chromosome sequences BA Barros, SG Moraes, FB Coeli, JG Assumpção, MP De Mello, ... Human reproduction 26 (12), 3450-3455, 2011 | 42 | 2011 |
| Genomic imbalances in syndromic congenital heart disease, MC Molck, M Simioni, TP Vieira, IC Sgardioli, FP Monteiro, J Souza, ... Jornal de pediatria 93, 497-507, 2017 | 32 | 2017 |
| Distal deletion at 22q11. 2 as differential diagnosis in craniofacial microsomia: case report and literature review S Spineli-Silva, LM Bispo, VL Gil-da-Silva-Lopes, TP Vieira European journal of medical genetics 61 (5), 262-268, 2018 | 31 | 2018 |
| Clinical features in patients with 22q11. 2 deletion syndrome ascertained by palatal abnormalities TP Vieira, FP Monteiro, IC Sgardioli, J Souza, AC Fett-Conte, IL Monlleo, ... The Cleft Palate-Craniofacial Journal 52 (4), 411-416, 2015 | 25 | 2015 |
| Insertional translocation of 15q25‐q26 into 11p13 and duplication at 8p23. 1 characterized by high resolution arrays in a boy with congenital malformations and aniridia M Simioni, TP Vieira, IC Sgardioli, ÉL Freitas, C Rosenberg, ... American journal of medical genetics Part A 158 (11), 2905-2910, 2012 | 23 | 2012 |
| Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11. 2 deletion RS Guilherme, KC Soares, M Simioni, TP Vieira, VL Gil‐da‐Silva‐Lopes, ... American Journal of Medical Genetics Part A 164 (7), 1659-1665, 2014 | 20 | 2014 |
| Atypical copy number abnormalities in 22q11. 2 region: report of three cases MC Molck, TP Vieira, IC Sgardioli, M Simioni, AP Dos Santos, J Souza, ... European journal of medical genetics 56 (9), 515-520, 2013 | 20 | 2013 |
| Testing criteria for 22q11. 2 deletion syndrome: preliminary results of a low cost strategy for public health IC Sgardioli, F Paoli Monteiro, P Fanti, T Paiva Vieira, ... Orphanet journal of rare diseases 14, 1-8, 2019 | 18 | 2019 |
| Anthropometric and body-mass composition suggests an intrinsic feature in Williams-Beuren syndrome RJN Nogueira, LF Zimmerman, YMF Moreno, CR Comparini, DV Viana, ... Revista da Associação Médica Brasileira 57, 681-685, 2011 | 18 | 2011 |
| Genetics and public health: the experience of a reference center for diagnosis of 22q11. 2 deletion in Brazil and suggestions for implementing genetic testing TP Vieira, IC Sgardioli, VL Gil-da-Silva-Lopes Journal of community genetics 4, 99-106, 2013 | 17 | 2013 |
| 22q11. 2 deletion syndrome: laboratory diagnosis and TBX1 and FGF8 mutation screening IC Sgardioli, TP Vieira, M Simioni, FP Monteiro, VL Gil-da-Silva-Lopes Journal of Pediatric Genetics 4 (01), 017-022, 2015 | 14 | 2015 |
| Diagnostic approach to microdeletion syndromes based on 22q11. 2 investigation: challenges in four cases IC Sgardioli, M de Mello Copelli, FP Monteiro, AP Dos Santos, ... Molecular syndromology 8 (5), 244-252, 2017 | 13 | 2017 |
| Maternally inherited partial monosomy 9p (pter→ p24. 1) and partial trisomy 20p (pter→ p12. 1) characterized by microarray comparative genomic hybridization ÉL Freitas, SM Gribble, M Simioni, TP Vieira, RL Silva‐Grecco, ... American Journal of Medical Genetics Part A 155 (11), 2754-2761, 2011 | 13 | 2011 |
| Genomic imbalances in craniofacial microsomia S Spineli‐Silva, IC Sgardioli, AP Dos Santos, LL Bergamini, IL Monlleó, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2020 | 12 | 2020 |
| A boy with partial dup (18q)/del (18p) due to a maternal pericentric inversion: Genotype–phenotype correlation and risk of recombinant chromosomes based on systematic review of … E Lustosa‐Mendes, AP Dos Santos, NL Viguetti‐Campos, TP Vieira, ... American Journal of Medical Genetics Part A 173 (1), 143-150, 2017 | 12 | 2017 |
| Local strategies to address health needs of individuals with orofacial clefts in Alagoas, Brazil MÍB Fontes, LN Almeida, G de Oliveira Reis Junior, JIV Filho, KMD Santos, ... The Cleft Palate-Craniofacial Journal 50 (4), 424-431, 2013 | 12 | 2013 |
| Tetrasomy 3q26. 32-q29 due to a supernumerary marker chromosome in a child with pigmentary mosaicism of Ito KS Cunha, M Simioni, TP Vieira, VL Gil-da-Silva-Lopes, MB Puzzi, ... Genetics and molecular biology 39, 35-39, 2016 | 10 | 2016 |
| A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state ÉL Freitas, SM Gribble, M Simioni, TP Vieira, E Prigmore, AC Krepischi, ... European journal of medical genetics 55 (11), 660-665, 2012 | 10 | 2012 |
| Identification of genomic imbalances in oral clefts E Lustosa-Mendes, AP Santos, TP Vieira, EM Ribeiro, AA Rezende, ... Jornal de Pediatria 97, 321-328, 2021 | 9 | 2021 |
