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Isabel Mendes Gaspar

Observed names: Gaspar, Isabel, Gaspar, Isabel M, Gaspar, Isabel Mendes, I Gaspar, I M Gaspar, I.M. Gaspar, Isabel Gaspar, Isabel M Gaspar, Isabel M. Gaspar
Observed institutions: National Health Laboratory Service, Universidad Complutense de Madrid, Kyrgyz State Medical Academy, University of Lisbon, University of Cape Town, University of Basel, Heidelberg University, Hospital de Egas Moniz, Centro Hospitalar Lisboa Norte, Hospital de Santa Cruz, Centro Hospitalar de Lisboa Ocidental, Hospital de Santa Maria, Medizinische Fakultät Mannheim
ORCID: 0000-0001-5025-7566
Observed ORCID: 0000-0001-5025-7566
OpenAlex ID: A5089630701
Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia
2020 · Representatives of the Global Familial Hypercholesterolemia Community, Katherine A. Wilemon, et al. · JAMA Cardiology · 268
Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study
2022 · Tycho R Tromp, Merel L Hartgers, et al. · The Lancet · 217
Familial hypercholesterolaemia: A global call to arms
2015 · Antonio J. Vallejo-Vaz, Sreenivasa Rao Kondapally Seshasai, et al. · Atherosclerosis · 180
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD
2011 · Marjolijn Renard, Bert Callewaert, et al. · International Journal of Cardiology · 176
Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration
2016 · Antonio J. Vallejo-Vaz, Asif Akram, et al. · Atherosclerosis Supplements · 113
Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas
2004 · Gl�ria Isidro, Francisco Laranjeira, et al. · Human Mutation · 93
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High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort
2012 · Susana Santos, Vanda Marques, et al. · BMC Medical Genetics · 41
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Sex Differences in Diagnosis, Treatment, and Cardiovascular Outcomes in Homozygous Familial Hypercholesterolemia
2024 · Janneke W. C. M. Mulder, Tycho R. Tromp, et al. · JAMA Cardiology · 34
Long‐term follow‐up in Stuve–Wiedemann syndrome: A clinical report
2008 · Isabel Mendes Gaspar, Tiago Saldanha, et al. · American Journal of Medical Genetics Part A · 30
Molecular diagnosis of Huntington disease in Portugal: implications for genetic counselling and clinical practice
2003 · Maria do Carmo Costa, Paula Magalhães, et al. · European Journal of Human Genetics · 26
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Molecular diagnosis of familial hypercholesterolemia: an important tool for cardiovascular risk stratification.
2010 · A C Alves, A M Medeiros, et al. · PubMed · 21
Testicular alterations in rats due to gestational and early lactational administration of lead
1995 · Isabel Corpas, Isabel Gaspar, et al. · Reproductive Toxicology · 17
Cardiovascular risk profile of high school students: A cross-sectional study
2014 · Teresa Rocha, Evangelista Rocha, et al. · Revista Portuguesa de Cardiologia · 10
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Cardiovascular disease in an intensive care unit: patterns of an often fatal omen
2021 · B Rocha, G Cunha, et al. · European Heart Journal · 8
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Variable expression and penetrance in Portuguese families with Familial Hypercholesterolemia with mild phenotype
2019 · I.M. Gaspar, A. Gaspar · Atherosclerosis Supplements · 8
The deletions of 22q11--the Portuguese experience.
1999 · I M Gaspar, M T Lourenço, et al. · PubMed · 4
Natural history of Brugada syndrome in a patient with congenital heart disease
2015 · Doroteia Silva, Fernando Maymone Martins, et al. · Revista Portuguesa de Cardiologia · 2
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Natural history of Brugada syndrome in a patient with congenital heart disease
2015 · Doroteia Silva, Fernando Maymone Martins, et al. · Revista Portuguesa de Cardiologia (English Edition) · 2
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Cardiovascular risk profile of high school students: A cross-sectional study
2014 · Teresa Rocha, Evangelista Rocha, et al. · Revista Portuguesa de Cardiologia (English Edition) · 1
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Patient experience and expectations with collaborative management between pharmacies and primary care: a qualitative study of a trial (USFarmácia) exit focus group
2026 · Suzete Costa, Marta Gaspar, et al. · BMC Family Practice
Weaning from Mechanical Ventilation: Antipsychotic-Induced Respiratory Dyskinesia in a Patient with Severe SARS-CoV-2 Pneumonia
2023 · Francisco das Neves Coelho, Catarina Melo Santos, et al. · Lessons from the ICU
Congenital adrenal hyperplasia in paediatric age molecular analysis of the CYP21A2 gene and implications for genetic counselling
2019 · S. Gomes, João Alfredo de Souza Silva, et al. · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)
Espectro de alterações moleculares detetadas no gene CYP21A2 associadas a deficiência em 21 hidroxilase
2018 · Susana Gomes, Iris Pereira‐Caetano, et al.
Congenital adrenal hyperplasia in paediatric age: molecular analysis of the CYP21A2 gene and implications for genetic counselling
2018 · S Gomes, J Silva, et al.
Small Deletion of 143 Kb Encompassing Exon 2 of the AUTS2: Rise of a NewMicrodeletion Syndrome?
2015 · Silvia Dubou Serafim, Bárbara Marques, et al. · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)
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Works count: 52
Citation count: 1,251
H-index: 12
I10-index: 13
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