Get started
Author

Jorge Pinto‐Basto

Trinucleotide Repeats in 202 Families With Ataxia
2002 · I. Silveira, C. Miranda, et al. · Archives of Neurology · 167
PDF
Osteopathia striata with cranial sclerosis owing to WTX gene defect
2009 · Bram Perdu, Fenna de Freitas, et al. · Journal of Bone and Mineral Research · 76
PDF
Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population
2010 · J Sequeiros, EM Ramos, et al. · Clinical Genetics · 75
Inherited and acquired risk factors and their combined effects in pediatric stroke
2003 · Sameiro Barreirinho, Anabela Ferro, et al. · Pediatric Neurology · 69
Autosomal Dominant Spastic Paraplegias
2013 · José Leal Loureiro, Eva Brandão, et al. · JAMA Neurology · 55
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene
2019 · Virginie G. Peter, Mathieu Quinodoz, et al. · Genetics in Medicine · 54
PDF
Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations
2006 · S. Alves, M. Mangas, et al. · Journal of Inherited Metabolic Disease · 44
Genotypes at the APOE and SCA2 loci do not predict the course of multiple sclerosis in patients of Portuguese origin
2004 · Mónica Santos, Maria do Carmo Costa, et al. · Multiple Sclerosis Journal · 31
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients
2022 · Ligia S. Almeida, Catarina Pereira, et al. · European Journal of Human Genetics · 30
PDF
Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations
2012 · Maria Conceição Pereira, José Leal Loureiro, et al. · Genetics in Medicine · 29
Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease
2017 · Fátima Lopes, Gabriela Soares, et al. · Frontiers in Genetics · 26
PDF
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population
2010 · M Barbosa, AB Sousa, et al. · Clinical Genetics · 21
Scope of definitions of genetic testing: evidence from a EuroGentest survey
2010 · Jorge Pinto-Basto, Bárbara Guimarães, et al. · Journal of Community Genetics · 15
PDF
Intergenerational instability in Huntington disease: Extreme repeat changes among 134 transmissions
2011 · Eliana Marisa Ramos, Joana Cerqueira, et al. · Movement Disorders · 14
A whole genome screen for association with multiple sclerosis in Portuguese patients
2003 · M. Santos, J. Pinto-Basto, et al. · Journal of Neuroimmunology · 14
PDF
Prostate cancer in Cowden syndrome: somatic loss and germline mutation of the PTEN gene
2011 · Mafalda Barbosa, Martinha Henrique, et al. · Cancer Genetics · 13
[Osteopathia striata with cranial sclerosis].
2010 · Mafalda Barbosa, Bram Perdu, et al. · PubMed · 11
PDF
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly
2022 · Quentin Thomas, Marialetizia Motta, et al. · The American Journal of Human Genetics · 10
PDF
FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes
2011 · Ana I. Seixas, José Vale, et al. · Behavioral and Brain Functions · 10
PDF
A report of congenital adrenal hyperplasia due to 17α-hydroxylase deficiency in two 46,XX sisters
2019 · Fernando Espinosa-Herrera, Estefanía Espín, et al. · Gynecological Endocrinology · 9
PDF
Elevation of gamma-glutamyl transferase in adult: Should we think about progressive familiar intrahepatic cholestasis?
2015 · Hugo M. Oliveira, Cláudia Pereira, et al. · Digestive and Liver Disease · 9
PDF
A Distinct Phenotype in a Novel ATP 1A3 Mutation: Connecting the Two Ends of a Spectrum
2015 · Pedro Pereira, Andreia Guerreiro, et al. · Movement Disorders Clinical Practice · 9
PDF
Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families.
2014 · Luís Negrão, Luciano Almendra, et al. · PubMed Central · 9
Epileptic Encephalopathy in Adams–Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype
2018 · Livia Pisciotta, Valeria Capra, et al. · Neuropediatrics · 8
Bethlem myopathy in a Portuguese patient - case report.
2017 · Ana Inês Martins, Cristin Maarque, et al. · Europe PMC (PubMed Central) · 7
Works count: 49
Citation count: 839
H-index: 14
I10-index: 19
Year
Topic
Type