Следене
Luisa Mota-Vieira
Luisa Mota-Vieira
Hospital Divino Espirito Santo de Ponta Delgada
Потвърден имейл адрес: azores.gov.pt
Заглавие
Позовавания
Позовавания
Година
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
3032007
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
1232017
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
1152009
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
972007
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
702007
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
661995
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
572018
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
462014
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
462013
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
452015
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
442011
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
342016
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
342005
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
341998
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
332006
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
292007
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
292001
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
292001
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
282005
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
262017
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Статии 1–20