| Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome) KW Kjaer, L Hansen, GC Schwabe, AP Marques-de-Faria, H Eiberg, ... Journal of medical genetics 42 (4), 292-298, 2005 | 127 | 2005 |
| Genetic services and testing in Brazil DDG Horovitz, VE de Faria Ferraz, S Dain, AP Marques-de-Faria Journal of community genetics 4, 355-375, 2013 | 120 | 2013 |
| XX Maleness and XX True Hermaphroditism in SRY-Negative Monozygotic Twins: Additional Evidence for a Common Origin AT Maciel-Guerra, MP de Mello, FB Coeli, ML Ribeiro, ML Miranda, ... The Journal of Clinical Endocrinology & Metabolism 93 (2), 339-343, 2008 | 63 | 2008 |
| Clinical genetics in developing countries: the case of Brazil AP Marques-de-Faria, VEF Ferraz, AX Acosta, D Brunoni Public Health Genomics 7 (2-3), 95-105, 2004 | 61 | 2004 |
| Complete gonadal dysgenesis in clinical practice: the 46, XY karyotype accounts for more than one third of cases VBC Rocha, G Guerra-Júnior, AP Marques-de-Faria, MP de Mello, ... Fertility and sterility 96 (6), 1431-1434, 2011 | 54 | 2011 |
| Fragile X syndrome: clinical, electroencephalographic and neuroimaging characteristics MM Guerreiro, EE Camargo, M Kato, AP Marques-de-Faria, SM Ciasca, ... Arquivos de Neuro-Psiquiatria 56, 18-23, 1998 | 52 | 1998 |
| G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart–Pumphrey syndrome F Alexandrino, EL Sartorato, AP Marques‐de‐Faria, CE Steiner American journal of medical genetics Part A 136 (3), 282-284, 2005 | 46 | 2005 |
| 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 |
| Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders CE Steiner, MM Guerreiro, AP Marques-de-Faria Arquivos de neuro-psiquiatria 61, 176-180, 2003 | 42 | 2003 |
| 408 cases of genital ambiguity followed by single multidisciplinary team during 23 years: etiologic diagnosis and sex of rearing GB De Paula, BA Barros, S Carpini, BJ Tincani, TN Mazzola, ... International journal of endocrinology 2016, 2016 | 39 | 2016 |
| Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5α-Reductase Type 2 Deficiency NN Veiga-Junior, PAR Medaets, RJ Petroli, FL Calais, MP de Mello, ... International Journal of Endocrinology 2012, 2012 | 39 | 2012 |
| New approach to phenotypic variability and karyotype-phenotype correlation in Turner syndrome J Miguel-Neto, AB Carvalho, AP Marques-de-Faria, G Guerra-Júnior, ... Journal of Pediatric Endocrinology and Metabolism 29 (4), 475-479, 2016 | 37 | 2016 |
| Genotype and natural history in unrelated individual with phenylketonuria and autistic behavior CE Steiner, AX Acosta, MM Guerreiro, AP Marques-de-Faria Arquivos de neuro-psiquiatria 65, 202-205, 2007 | 37 | 2007 |
| A naturally occurring deletion in the SRY promoter region affecting the Sp1 binding site is associated with sex reversal JG Assumpcao, LFC Ferraz, CE Benedetti, AT Maciel-Guerra, G Guerra, ... Journal of endocrinological investigation 28, 651-656, 2005 | 37 | 2005 |
| Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency CCTS Castro, G Guaragna-Filho, FL Calais, FB Coeli, IRL Leal, ... Arquivos Brasileiros de Endocrinologia & Metabologia 56, 533-539, 2012 | 35 | 2012 |
| Turner syndrome: a pediatric diagnosis frequently made by non-pediatricians AB Carvalho, G Guerra-Junior, MTM Baptista, AP Marques-de-Faria, ... Jornal de Pediatria 86, 121-125, 2010 | 29 | 2010 |
| True hermaphrodites in the southeastern region of Brazil: a different cytogenetic and gonadal profile G Guerra Jr., M Palandi de Mello, J Godoy Assumpção, AM Morcillo, ... Journal of Pediatric Endocrinology and Metabolism 11 (4), 519-524, 1998 | 27 | 1998 |
| Long-term follow-up of patients with 46, XY partial gonadal dysgenesis reared as males J Gabriel Ribeiro de Andrade, AP Marques-de-Faria, HC Fabbri, ... International journal of endocrinology 2014, 2014 | 24 | 2014 |
| Spondylocarpotarsal synostosis with ocular findings CE Steiner, M Torriani, DYJ Norato, AP Marques‐de‐Faria American journal of medical genetics 91 (2), 131-134, 2000 | 24 | 2000 |
| Klinefelter syndrome: an unusual diagnosis in pediatric patients BJ Tincani, BR Mascagni, RDP Pinto, G Guaragna-Filho, CCTS Castro, ... Jornal de Pediatria 88, 323-327, 2012 | 23* | 2012 |
Andréa Trevas Maciel GuerraProfessora titular do Depto. de Genética Medica, FCM - UnicampDirección de correo verificada de fcm.unicamp.br
