CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome J Marcelino, JD Carpten, WM Suwairi, OM Gutierrez, S Schwartz, ... Nature genetics 23 (3), 319-322, 1999 | 381 | 1999 |
Use of misoprostol during pregnancy and Möbius' syndrome in infants AL Pastuszak, L Schüler, CE Speck-Martins, KEFA Coelho, SM Cordello, ... New England Journal of Medicine 338 (26), 1881-1885, 1998 | 380 | 1998 |
Limb deficiency with or without Möbius sequence in seven Brazilian children associated with misoprostol use in the first trimester of pregnancy CH Gonzalez, FR Vargas, ABA Perez, CA Kim, D Brunoni, ... American Journal of Medical Genetics 47 (1), 59-64, 1993 | 246 | 1993 |
Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2 K Dathe, KW Kjaer, A Brehm, P Meinecke, P Nürnberg, JC Neto, ... The American Journal of Human Genetics 84 (4), 483-492, 2009 | 202 | 2009 |
Microcefalia e outras manifestações relacionadas ao vírus Zika: impacto nas crianças, nas famílias e nas equipes de saúde D Brunoni, SM Blascovi-Assis, AAC Osório, AG Seabra, CAH Amato, ... Ciência & Saúde Coletiva 21, 3297-3302, 2016 | 169* | 2016 |
Prenatal exposure to misoprostol and vascular disruption defects: a case‐control study FR Vargas, L Schuler‐Faccini, D Brunoni, C Kim, VFA Meloni, ... American journal of medical genetics 95 (4), 302-306, 2000 | 165 | 2000 |
High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes A Splendore, EO Silva, LG Alonso, A Richieri‐Costa, N Alonso, A Rosa, ... Human Mutation 16 (4), 315-322, 2000 | 163 | 2000 |
Thalidomide, a current teratogen in South America EE Castilla, P Ashton‐Prolla, E Barreda‐Mejia, D Brunoni, DP Cavalcanti, ... Teratology 54 (6), 273-277, 1996 | 157 | 1996 |
Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome JF Mazzeu, E Pardono, AM Vianna‐Morgante, A Richieri‐Costa, ... American journal of medical genetics Part A 143 (4), 320-325, 2007 | 121 | 2007 |
Relationship between polymorphisms in genes involved in homocysteine metabolism and maternal risk for Down syndrome in Brazil LRJ da Silva, N Vergani, LC Galdieri, MP Ribeiro Porto, SB Longhitano, ... American journal of medical genetics Part A 135 (3), 263-267, 2005 | 121 | 2005 |
Prevalence of pervasive developmental disorder in Down’s syndrome R Lowenthal, CS Paula, JS Schwartzman, D Brunoni, MT Mercadante Journal of autism and developmental disorders 37, 1394-1395, 2007 | 120 | 2007 |
Aconselhamento genético D Brunoni Ciência & Saúde Coletiva 7, 101-107, 2002 | 104 | 2002 |
Pregnancy outcome after exposure to misoprostol in Brazil: a prospective, controlled study L Schüler, A Pastuszak, MTV Sanseverino, IM Orioliz, D Brunoni, ... Reproductive Toxicology 13 (2), 147-151, 1999 | 101 | 1999 |
Ocular and clinical manifestations of Möbius' syndrome MF Cronemberger, JBC Moreira, D Brunoni, TS Mendonça, ... Journal of Pediatric Ophthalmology & Strabismus 38 (3), 156-162, 2001 | 93 | 2001 |
CFC index for the diagnosis of cardiofaciocutaneous syndrome MI Kavamura, CA Peres, MMA Alchorne, D Brunoni American journal of medical genetics 112 (1), 12-16, 2002 | 91 | 2002 |
Impact of 5-HTTLPR and BDNF polymorphisms on response to sertraline versus transcranial direct current stimulation: implications for the serotonergic system AR Brunoni, AH Kemp, P Shiozawa, Q Cordeiro, LCL Valiengo, ... European Neuropsychopharmacology 23 (11), 1530-1540, 2013 | 86 | 2013 |
Genetics of autism G Carvalheira, N Vergani, D Brunoni Brazilian Journal of Psychiatry 26, 270-272, 2004 | 85 | 2004 |
Ring chromosome instability evaluation in six patients with autosomal rings CP Sodré, RS Guilherme, VF Meloni, D Brunoni, Y Juliano, JA Andrade, ... Genet Mol Res 9 (1), 134-143, 2010 | 84 | 2010 |
Methylenetetrahydrofolate reductase (MTHFR): incidence of mutations C677T and A1298C in Brazilian population and its correlation with plasma homocysteine levels in spina bifida ABA Perez, V D'Almeida, N Vergani, AC de Oliveira, FT de Lima, ... American journal of medical genetics Part A 119 (1), 20-25, 2003 | 75 | 2003 |
Novel COL1A1 mutation (G599C) associated with mild osteogenesis imperfecta and dentinogenesis imperfecta D Pallos, PS Hart, JR Cortelli, S Vian, JT Wright, J Korkko, D Brunoni, ... Archives of oral biology 46 (5), 459-470, 2001 | 74 | 2001 |