| Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly MA Lines, L Huang, J Schwartzentruber, SL Douglas, DC Lynch, ... The American Journal of Human Genetics 90 (2), 369-377, 2012 | 227 | 2012 |
| A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects FP Favaro, L Alvizi, RM Zechi-Ceide, D Bertola, TM Felix, J de Souza, ... The American Journal of Human Genetics 94 (1), 120-128, 2014 | 122 | 2014 |
| A review of craniofacial disorders caused by spliceosomal defects D Lehalle, D Wieczorek, RM Zechi‐Ceide, MR Passos‐Bueno, S Lyonnet, ... Clinical genetics 88 (5), 405-415, 2015 | 104 | 2015 |
| 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 |
| Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes SRF Twigg, C Babbs, MEP van den Elzen, A Goriely, S Taylor, ... Human molecular genetics 22 (8), 1654-1662, 2013 | 73 | 2013 |
| A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate ML Guion-Almeida, RM Zechi-Ceide, S Vendramini, AT Ju Clinical dysmorphology 15 (3), 171-174, 2006 | 61 | 2006 |
| Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia CT Gordon, KN Weaver, RM Zechi-Ceide, EC Madsen, ALP Tavares, ... The American Journal of Human Genetics 96 (4), 519-531, 2015 | 48 | 2015 |
| Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity C Masotti, KG Oliveira, F Poerner, A Splendore, J Souza, RS Freitas, ... European journal of human genetics 16 (2), 145-152, 2008 | 45 | 2008 |
| Auriculo‐condylar syndrome: Additional patients ML Guion‐Almeida, RM Zechi‐Ceide, S Vendramini, NM Kokitsu‐Nakata American journal of medical genetics 112 (2), 209-214, 2002 | 42 | 2002 |
| EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome EE Miller, GS Kobayashi, CM Musso, M Allen, FAA Ishiy, LC de Caires Jr, ... Human molecular genetics 26 (12), 2177-2191, 2017 | 41 | 2017 |
| Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its … RM Zechi-Ceide, NAJ Oliveira, ML Guion-Almeida, LFBB Antunes, ... European journal of medical genetics 51 (3), 183-196, 2008 | 38 | 2008 |
| 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 |
| Richieri‐Costa–Pereira syndrome: a unique acrofacial dysostosis type. An overview of the Brazilian cases FP Favaro, RM Zechi‐Ceide, CW Alvarez, LP Maximino, LFBB Antunes, ... American Journal of Medical Genetics Part A 155 (2), 322-331, 2011 | 36 | 2011 |
| Auriculo‐condylar syndrome: Further evidence for a new disorder ML Guion‐Almeida, NM Kokitsu‐Nakata, RM Zechi‐Ceide, S Vendramini American journal of medical genetics 86 (2), 130-133, 1999 | 27 | 1999 |
| 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 |
| Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: When should IRF6 mutational screening be done? FS Jehee, BA Burin, KM Rocha, R Zechi‐Ceide, DF Bueno, L Brito, ... American Journal of Medical Genetics Part A 149 (6), 1319-1322, 2009 | 23 | 2009 |
| 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 |
| Cleft lip/palate, abnormal ears, ectrodactyly, congenital heart defect, and growth retardation:: definition of the acro-cardio-facial syndrome ML Guion-Almeida, RM Zechi-Ceide, A Richieri-Costa Clinical Dysmorphology 9 (4), 269-272, 2000 | 20 | 2000 |
| 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 |
Maria Rita Passos-BuenoDepartamento de Genetica e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo在 ib.usp.br 的电子邮件经过验证
