| Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature S Vendramini-Pittoli, NM Kokitsu-Nakata Clinical dysmorphology 18 (2), 67-77, 2009 | 85 | 2009 |
| Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears CT Gordon, F Petit, PM Kroisel, L Jakobsen, RM Zechi-Ceide, M Oufadem, ... The American Journal of Human Genetics 93 (6), 1118-1125, 2013 | 82 | 2013 |
| Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome A Kievit, F Tessadori, H Douben, I Jordens, M Maurice, J Hoogeboom, ... European journal of human genetics 26 (2), 210-219, 2018 | 51 | 2018 |
| Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect VL Romanelli Tavares, CT Gordon, RM Zechi-Ceide, NM Kokitsu-Nakata, ... European journal of human genetics 23 (4), 481-485, 2015 | 36 | 2015 |
| Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome NM Kokitsu‐Nakata, AL Petrin, JP Heard, S Vendramini‐Pittoli, LE Henkle, ... American Journal of Medical Genetics Part A 158 (8), 2003-2008, 2012 | 28 | 2012 |
| Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: Autosomal dominant or X … ML Guion‐Almeida, S Vendramini‐Pittoli, MRS Passos‐Bueno, ... American Journal of Medical Genetics Part A 149 (12), 2762-2764, 2009 | 25 | 2009 |
| Interstitial 1q21. 1 microdeletion is associated with severe skeletal anomalies, dysmorphic face and moderate intellectual disability BF Gamba, RM Zechi-Ceide, NM Kokitsu-Nakata, S Vendramini-Pittoli, ... Molecular syndromology 7 (6), 344-348, 2016 | 24 | 2016 |
| Auriculo‐condylar syndrome. Confronting a diagnostic challenge NM Kokitsu‐Nakata, RM Zechi‐Ceide, S Vendramini‐Pittoli, ... American Journal of Medical Genetics Part A 158 (1), 59-65, 2012 | 21 | 2012 |
| Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome VL Romanelli Tavares, RM Zechi‐Ceide, DR Bertola, CT Gordon, ... American Journal of Medical Genetics Part A 173 (4), 938-945, 2017 | 18 | 2017 |
| Insight into the ontogeny of GnRH neurons from patients born without a nose A Delaney, R Volochayev, B Meader, J Lee, K Almpani, GY Noukelak, ... The Journal of Clinical Endocrinology & Metabolism 105 (5), 1538-1551, 2020 | 10 | 2020 |
| An unusual presentation of oculoauriculovertebral spectrum with a Tessier 30 cleft: report on two cases S Vendramini-Pittoli, ML Guion-Almeida, JM Santos, SMG Júnior, ... Clinical Dysmorphology 24 (4), 144-150, 2015 | 10 | 2015 |
| Multisystem involvement in a patient with a PTCH1 mutation: clinical and imaging findings A Richieri-Costa, S Vendramini-Pittoli, NM Kokitsu-Nakata, ... Journal of Pediatric Genetics 6 (02), 103-106, 2017 | 8 | 2017 |
| Cerebro‐oculo‐nasal syndrome: Report of a case with a severe phenotype NM Kokitsu‐Nakata, SVP Pittoli, A Richieri da Costa American Journal of Medical Genetics Part A 149 (3), 519-520, 2009 | 7 | 2009 |
| Clinical findings in children with congenital anomalies and misoprostol intrauterine exposure: a study of 38 cases S Vendramini-Pittoli, ML Guion-Almeida, A Richieri-Costa, JM Santos, ... Journal of pediatric genetics 2 (4), 173-180, 2013 | 6 | 2013 |
| Craniofacial and airway morphology of individuals with oculoauriculovertebral spectrum JOL Parizotto, AP Peixoto, KT Borsato, J Bianchi, S Vendramini Pittoli, ... Orthodontics & Craniofacial Research 24 (4), 575-584, 2021 | 5 | 2021 |
| Interstitial 1q21. 1 microdeletion is associated with severe skeletal anomalies, dysmorphic face and moderate intellectual disability. Mol Syndromol. 2016; 7: 344–8 B Gamba, RM Zechi-Ceide, NM Kokitsu-Nakata, S Vendramini-Pittoli, ... | 5 | |
| Oculoauriculofrontonasal syndrome: Refining the phenotype through a new case series and literature review HR Serigatto, NM Kokitsu‐Nakata, S Vendramini‐Pittoli, C Tonello, ... American Journal of Medical Genetics Part A 191 (10), 2493-2507, 2023 | 3 | 2023 |
| Craniofacial microsomia: new updates in spinal anomalies B Gonçalves Ferraz, S Vendramini-Pittoli, LP Gomes, M Madeira Brandão, ... Journal of Craniofacial Surgery 34 (4), e398-e401, 2023 | 3 | 2023 |
| Complex craniofacial cleft and accessory maxilla in oculoauriculofrontonasal syndrome HR Serigatto, NM Kokitsu-Nakata, PP Moura, S Vendramini-Pittoli, ... Clinical Dysmorphology 32 (1), 21-24, 2023 | 3 | 2023 |
| Holoprosencephaly, orofacial cleft, and frontonaso‐orbital encephaloceles: Genetic evaluation of a possible new syndrome A Richieri‐Costa, RM Zechi‐Ceide, RM Candido‐Souza, RAC Monteiro, ... American Journal of Medical Genetics Part A 179 (11), 2170-2177, 2019 | 2 | 2019 |
