| Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study—preliminary data DJ Allingham‐Hawkins, R Babul‐Hirji, D Chitayat, JJA Holden, KT Yang, ... American journal of medical genetics 83 (4), 322-325, 1999 | 582 | 1999 |
| Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents C Rosenberg, J Knijnenburg, E Bakker, AM Vianna-Morgante, W Sloos, ... Journal of medical genetics 43 (2), 180-186, 2006 | 266 | 2006 |
| Genomic imbalances associated with müllerian aplasia C Cheroki, ACV Krepischi-Santos, K Szuhai, V Brenner, CAE Kim, PA Otto, ... Journal of medical genetics 45 (4), 228-232, 2008 | 151 | 2008 |
| Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations ACV Krepischi-Santos, AM Vianna-Morgante, FS Jehee, ... Cytogenetic and genome research 115 (3-4), 254-261, 2006 | 141 | 2006 |
| Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects MC Varela, F Kok, PA Otto, CP Koiffmann European Journal of Human Genetics 12 (12), 987-992, 2004 | 137 | 2004 |
| 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 | 119 | 2007 |
| UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome RMP Nascimento, PA Otto, APM de Brouwer, AM Vianna-Morgante The American Journal of Human Genetics 79 (3), 549-555, 2006 | 116 | 2006 |
| Analysis of a novel functional polymorphism within the promoter region of the serotonin transporter gene (5‐HTT) in Brazilian patients affected by bipolar disorder and … JRM de Oliveira, PA Otto, H Vallada, V Lauriano, H Elkis, B Lafer, ... American journal of medical genetics 81 (3), 225-227, 1998 | 102 | 1998 |
| Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling AC Batissoco, RS Abreu-Silva, MCC Braga, K Lezirovitz, V Della-Rosa, ... Ear and hearing 30 (1), 1-7, 2009 | 101 | 2009 |
| Waardenburg syndrome: clinical differentiation between types I and II E Pardono, Y van Bever, J van den Ende, PC Havrenne, P Iughetti, ... American Journal of Medical Genetics Part A 117 (3), 223-235, 2003 | 86 | 2003 |
| Report of a del22q11 in a patient with Mayer‐Rokitansky‐Küster‐Hauser (MRKH) anomaly and exclusion of WNT‐4, RAR‐gamma, and RXR‐alpha as major … C Cheroki, AC Krepischi‐Santos, C Rosenberg, FS Jehee, ... American Journal of Medical Genetics Part A 140 (12), 1339-1342, 2006 | 84 | 2006 |
| The short variant of the polymorphism within the promoter region of the serotonin transporter gene is a risk factor for late onset Alzheimer's disease JRM Oliveira, RM Gallindo, LGS Maia, PR Brito-Marques, PA Otto, ... Molecular Psychiatry 3 (5), 438-441, 1998 | 75 | 1998 |
| Analysis of IL-1α, IL-1β, and IL-RA polymorphisms in dysthymia SMM Fertuzinhos, JRM Oliveira, AL Nishimura, D Pontual, DR Carvalho, ... Journal of Molecular Neuroscience 22, 251-255, 2004 | 59 | 2004 |
| Absence of correlation between X chromosome inactivation pattern and plasma concentration of factor VIII and factor IX in carriers of haemophilia A and B KH Ørstavik, E Scheibel, J Ingerslev, M Schwartz Thrombosis and haemostasis 83 (03), 433-437, 2000 | 57 | 2000 |
| Genética humana e clínica PG Otto Editora Roca, 2004 | 56 | 2004 |
| Relationship between Mayer‐Rokitansky‐Küster (MRK) anomaly and hereditary renal adysplasia (HRA) R de Cássia M. Pavanello, A Eigier, PA Otto, JM Optiz, JF Reynolds American journal of medical genetics 29 (4), 845-849, 1988 | 55 | 1988 |
| The search of a genetic basis for noise-induced hearing loss (NIHL) RS Abreu-Silva, D Rincon, ARVR Horimoto, AP Sguillar, LAC Ricardo, ... Annals of Human Biology 38 (2), 210-218, 2011 | 53 | 2011 |
| The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9gene: two novel de novo balanced translocations associated with … ACS Fonseca, A Bonaldi, DR Bertola, CA Kim, PA Otto, ... BMC medical genetics 14, 1-10, 2013 | 51 | 2013 |
| Prevalence of the A1555G (12S rRNA) and tRNA Ser (UCN) mitochondrial mutations in hearing-impaired Brazilian patients RS Abreu-Silva, K Lezirovitz, MCC Braga, M Spinelli, S Pirana, ... Brazilian journal of medical and biological research 39, 219-226, 2006 | 51 | 2006 |
| Genetic contribution for non‐syndromic cleft lip with or without cleft palate (NS CL/P) in different regions of Brazil and implications for association studies LA Brito, LA Cruz, KM Rocha, LK Barbara, CBF Silva, DF Bueno, ... American Journal of Medical Genetics Part A 155 (7), 1581-1587, 2011 | 49 | 2011 |
