| Mutations in NR5A1 associated with ovarian insufficiency D Lourenço, R Brauner, L Lin, A De Perdigo, G Weryha, M Muresan, ... New England Journal of Medicine 360 (12), 1200-1210, 2009 | 438 | 2009 |
| Prevalence and evolutionary origins of the del (GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study I Del Castillo, MA Moreno-Pelayo, FJ Del Castillo, Z Brownstein, S Marlin, ... The American Journal of Human Genetics 73 (6), 1452-1458, 2003 | 352 | 2003 |
| Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46, XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable … J Assumpção, C Benedetti, A Maciel-Guerra, G Guerra, M Baptista, ... Journal of Molecular Medicine 80, 782-790, 2002 | 80 | 2002 |
| Do holocausto nazista à nova eugenia no século XXI ATM Guerra Ciência e Cultura 58 (1), 4-5, 2006 | 74 | 2006 |
| Mutation update for the NR5A1 gene involved in DSD and infertility H Fabbri‐Scallet, LM de Sousa, AT Maciel‐Guerra, G Guerra‐Júnior, ... Human mutation 41 (1), 58-68, 2020 | 71 | 2020 |
| Cardiovascular and renal anomalies in Turner syndrome AB Carvalho, G Guerra Júnior, MTM Baptista, APM Faria, SHVL Marini, ... Revista Da Associacao Medica Brasileira 56, 655-659, 2010 | 68 | 2010 |
| The role of the pediatrician in the management of children with genital ambiguities G Guerra-Júnior, AT Maciel-Guerra Jornal de Pediatria 83, S184-S191, 2007 | 64* | 2007 |
| 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 |
| Turner's syndrome and thyroid disease: a transverse study of pediatric patients in Brazil CCM Medeiros, S Marini, MTM Baptista, G Guerra Jr., AT Maciel-Guerra Journal of Pediatric Endocrinology and Metabolism 13 (4), 357-362, 2000 | 61 | 2000 |
| Evidence for autosomal recessive inheritance of progeria (Hutchinson Gilford) AT Maciel, JM Opitz, JF Reynolds American journal of medical genetics 31 (3), 483-487, 1988 | 60 | 1988 |
| Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a cross-sectional study of factors involved in bone mineral density PO de Almeida Freire, SHV de Lemos-Marini, AT Maciel-Guerra, ... Journal of Bone and Mineral Metabolism 21, 396-401, 2003 | 58 | 2003 |
| Determination of the frequency of the 35delG allele in Brazilian neonates EL Sartorato, E Gottardi, CA De Oliveira, LA Magna, ... Clinical Genetics 58 (4), 339-340, 2000 | 58 | 2000 |
| Deafness resulting from mutations in the GJB2 (connexin 26) gene in Brazilian patients CA Oliveira, AT Maciel‐Guerra, EL Sartorato Clinical genetics 61 (5), 354-358, 2002 | 57 | 2002 |
| 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 |
| Menino ou menina? AT Maciel-Guerra Editora Manole Ltda, 2002 | 52 | 2002 |
| Homozygous inactivating mutation in NANOS3 in two sisters with primary ovarian insufficiency MG Santos, AZ Machado, CN Martins, S Domenice, EMF Costa, MY Nishi, ... BioMed research international 2014, 2014 | 51 | 2014 |
| Bone mineralization in Turner syndrome: a transverse study of the determinant factors in 58 patients AMG Costa, SHV Lemos-Marini, MTM Baptista, AM Morcillo, ... Journal of bone and mineral metabolism 20, 294-297, 2002 | 48 | 2002 |
| Aspectos psicossociais da síndrome de Turner LZC Suzigan, RB Silva, AT Maciel-Guerra Arquivos Brasileiros de Endocrinologia & Metabologia 49, 157-164, 2005 | 43* | 2005 |
| New frameshift mutation in the 5α‐reductase type 2 gene in a Brazilian patient with 5α‐reductase deficiency LFC Ferraz, MT Mathias Baptista, AT Maciel‐Guerra, GG Júnior, C Hackel American journal of medical genetics 87 (3), 221-225, 1999 | 43 | 1999 |
| Screening of Y chromosome microdeletions in 46, XY partial gonadal dysgenesis and in patients with a 45, X/46, XY karyotype or its variants AP dos Santos, JG Ribeiro Andrade, CSC Piveta, J de Paulo, ... BMC Medical Genetics 14, 1-11, 2013 | 42 | 2013 |
