| Epidemiology of autism spectrum disorder in Portugal: prevalence, clinical characterization, and medical conditions G Oliveira, A Ataíde, C Marques, TS Miguel, AM Coutinho, L Mota‐Vieira, ... Developmental Medicine & Child Neurology 49 (10), 726-733, 2007 | 301 | 2007 |
| Clinical and genetic spectrum of Bartter syndrome type 3 E Seys, O Andrini, M Keck, L Mansour-Hendili, PY Courand, C Simian, ... Journal of the American Society of Nephrology 28 (8), 2540-2552, 2017 | 123 | 2017 |
| Low frequency of CD4+CD25+ Treg in SLE patients: a heritable trait associated with CTLA4 and TGFβ gene variants M Barreto, RC Ferreira, L Lourenço, MF Moraes-Fontes, E Santos, ... BMC immunology 10, 1-14, 2009 | 114 | 2009 |
| Molecular and clinical characteristics in 46 families affected with Peutz–Jeghers syndrome H Mehenni, N Resta, G Guanti, L Mota-Vieira, A Lerner, M Peyman, ... Digestive diseases and sciences 52, 1924-1933, 2007 | 97 | 2007 |
| MECP2 coding sequence and 3′ UTR variation in 172 unrelated autistic patients AM Coutinho, G Oliveira, C Katz, J Feng, J Yan, C Yang, C Marques, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 144 …, 2007 | 70 | 2007 |
| Four new mutations in the NADH-cytochrome b5 reductase gene from patients with recessive congenital methemoglobinemia type II LM Vieira, JC Kaplan, A Kahn, A Leroux | 67 | 1995 |
| Diagnosis of Human Leptospirosis in a Clinical Setting: Real-Time PCR High Resolution Melting Analysis for Detection of Leptospira at the Onset of Disease LM Esteves, SM Bulhões, CC Branco, T Carreira, ML Vieira, ... Scientific reports 8 (1), 9213, 2018 | 57 | 2018 |
| Human leptospirosis: seroreactivity and genetic susceptibility in the population of Sao Miguel Island (Azores, Portugal) LM Esteves, SM Bulhões, CC Branco, FM Mota, C Paiva, R Cabral, ... PLoS One 9 (9), e108534, 2014 | 46 | 2014 |
| A new PAX8 mutation causing congenital hypothyroidism in three generations of a family is associated with abnormalities in the urogenital tract A Carvalho, P Hermanns, AL Rodrigues, I Sousa, J Anselmo, H Bikker, ... Thyroid 23 (9), 1074-1078, 2013 | 46 | 2013 |
| Oxidative stress and mitochondrial dysfunction play a role in myelodysplastic syndrome development, diagnosis, and prognosis: A pilot study AC Gonçalves, E Cortesão, B Oliveiros, V Alves, AI Espadana, L Rito, ... Free radical research 49 (9), 1081-1094, 2015 | 45 | 2015 |
| International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation A Peixoto, C Santos, M Pinheiro, P Pinto, MJ Soares, P Rocha, L Gusmao, ... Breast cancer research and treatment 127, 671-679, 2011 | 44 | 2011 |
| Oxidative stress levels are correlated with P15 and P16 gene promoter methylation in myelodysplastic syndrome patients AC Gonçalves, E Cortesão, B Oliveiros, V Alves, AI Espadana, L Rito, ... Clinical and experimental medicine 16, 333-343, 2016 | 34 | 2016 |
| Failure to find α-synuclein gene dosage changes in 190 patients with familial Parkinson disease S Gispert, C Trenkwalder, L Mota-Vieira, V Kostic, G Auburger Archives of neurology 62 (1), 96-98, 2005 | 34 | 2005 |
| Absence of Mutation in the β-and γ-Synuclein Genes in Familial Autosomal Dominant Parkinson's Disease C Lavedan, S Buchholtz, G Auburger, RL Albin, A Athanassiadou, ... DNA research 5 (6), 401-402, 1998 | 34 | 1998 |
| Evaluation of reference-based two-color methods for measurement of gene expression ratios using spotted cDNA microarrays BR Peixoto, RZN Vêncio, CM Egidio, L Mota-Vieira, S Verjovski-Almeida, ... BMC genomics 7, 1-12, 2006 | 33 | 2006 |
| Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy E Chabrol, I Gourfinkel-An, IE Scheffer, F Picard, P Couarch, SF Berkovic, ... Epilepsy research 76 (1), 41-48, 2007 | 29 | 2007 |
| Transcriptional and translational mechanisms of cytochrome b5 reductase isoenzyme generation in humans A Leroux, LM Vieira, A Kahn Biochemical Journal 355 (2), 529-535, 2001 | 29 | 2001 |
| The Y‐chromosomal heritage of the Azores Islands population PR Pacheco, CC Branco, R Cabral, S Costa, AL Araújo, BR Peixoto, ... Annals of Human Genetics 69 (2), 145-156, 2005 | 28 | 2005 |
| Disease knowledge and attitudes toward predictive testing and prenatal diagnosis in families with Machado-Joseph disease from the Azores Islands (Portugal) M Lima, T Kay, J Vasconcelos, L Mota-Vieira, C Gonzalez, A Peixoto, ... Public Health Genomics 4 (1), 36-42, 2001 | 28 | 2001 |
| Genetic variants involved in oxidative stress, base excision repair, DNA methylation, and folate metabolism pathways influence myeloid neoplasias susceptibility and prognosis AC Goncalves, R Alves, I Baldeiras, E Cortesao, JP Carda, CC Branco, ... Molecular carcinogenesis 56 (1), 130-148, 2017 | 26 | 2017 |
