Hospital do Divino Espírito Santo

Homepage: hdes.pt

ROR: 02ehsvt70

OpenAlex ID: I4210117409

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2

2004 · Maria-Céu Moreira, Sandra Klur, et al. · Nature Genetics · 519

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The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin

2001 · Maria-Céu Moreira, Clara Barbot, et al. · Nature Genetics · 434

Fetal Loss Associated With Excess Thyroid Hormone Exposure

2004 · João Anselmo · JAMA · 296

Dilated cardiomyopathy and arrhythmogenic left ventricular cardiomyopathy: a comprehensive genotype-imaging phenotype study

2019 · João B Augusto, Rocio Eiros, et al. · European Heart Journal - Cardiovascular Imaging · 210

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Research needs in allergy: an EAACI position paper, in collaboration with EFA

2012 · Nikolaos G Papadopoulos, Ioana Agache, et al. · Clinical and Translational Allergy · 204

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Expression of FOXA1 and GATA-3 in breast cancer: the prognostic significance in hormone receptor-negative tumours

2009 · André Albergaria, Joana Paredes, et al. · Breast Cancer Research · 161

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Review of the disease course among adult ulcerative colitis population-based longitudinal cohorts

2011 · Fernando Magro, Andreia Rodrigues, et al. · Inflammatory Bowel Diseases · 153

Epidemiology of autism spectrum disorder in Portugal: prevalence, clinical characterization, and medical conditions

2007 · Guiomar Oliveira, Assunção Ataíde, et al. · Developmental Medicine & Child Neurology · 146

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Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease

2016 · M. Biegstraaten, T.M. Cox, et al. · Blood Cells Molecules and Diseases · 139

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Clinical and Genetic Spectrum of Bartter Syndrome Type 3

2017 · Elsa Seys, Olga Andrini, et al. · Journal of the American Society of Nephrology · 119

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Comparison of different histological indexes in the assessment of UC activity and their accuracy regarding endoscopic outcomes and faecal calprotectin levels

2018 · Fernando Magro, Joanne Lopes, et al. · Gut · 114

Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in Europe

2016 · Nadia Belmatoug, Maja Di Rocco, et al. · European Journal of Internal Medicine · 90

Low frequency of CD4+CD25+ Treg in SLE patients: a heritable trait associated with CTLA4 and TGFβ gene variants

2009 · Marta Barreto, Ricardo C Ferreira, et al. · BMC Immunology · 82

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Self‐medication of anaphylactic reactions due to Hymenoptera stings—an EAACI Task Force Consensus Statement

2016 · M. B. Bilò, E. Cichocka‐Jarosz, et al. · Allergy · 81

A Large Family with Carney Complex Caused by the S147G PRKAR1A Mutation Shows a Unique Spectrum of Disease Including Adrenocortical Cancer

2011 · João Anselmo, Sandra Medeiros, et al. · The Journal of Clinical Endocrinology & Metabolism · 81

Standard endovascular aneurysm repair in patients with wide infrarenal aneurysm necks is associated with increased risk of adverse events

2017 · Nelson F.G. Oliveira, Frederico M. Bastos Gonçalves, et al. · Journal of Vascular Surgery · 75

Juvenile idiopathic arthritis in adulthood: fulfilment of classification criteria for adult rheumatic diseases, long-term outcomes and predictors of inactive disease, functional status and damage

2016 · Filipa Oliveira-Ramos, Mónica Eusébio, et al. · RMD Open · 75

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Autoimmunity in Patients with Resistance to Thyroid Hormone

2010 · Marla S. Barkoff, Masha Kocherginsky, et al. · The Journal of Clinical Endocrinology & Metabolism · 75

Diagnosis of Human Leptospirosis in a Clinical Setting: Real-Time PCR High Resolution Melting Analysis for Detection of Leptospira at the Onset of Disease

2018 · Lisa M. Esteves, Sara M. Bulhões, et al. · Scientific Reports · 72

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Clinical features and long-term outcomes of systemic lupus erythematosus: comparative data of childhood, adult and late-onset disease in a national register

2016 · S. Sousa, M. J. Gonçalves, et al. · Rheumatology International · 69

Incidence and predisposing factors of phlebitis in a surgery department

2011 · Luís Carlos do Rego Furtado · British Journal of Nursing · 68

Nottingham Prognostic Index in Triple-Negative Breast Cancer: a reliable prognostic tool?

2011 · André Albergaria, Sara Ricardo, et al. · BMC Cancer · 68

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Tonsillectomy: cold dissection versus bipolar electrodissection

2003 · Helena Silveira, José Silveira Soares, et al. · International Journal of Pediatric Otorhinolaryngology · 68

Patients with large neck diameter have a higher risk of type IA endoleaks and aneurysm rupture after standard endovascular aneurysm repair

2018 · Nelson F.G. Oliveira, Frederico Bastos Gonçalves, et al. · Journal of Vascular Surgery · 63

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MECP2 coding sequence and 3′UTR variation in 172 unrelated autistic patients

2007 · Ana M. Coutinho, Guiomar Oliveira, et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 63

Works count: 1,231

Citation count: 15,840