author-photo

Jorge Pinto-Basto

Instituto de Biologia Molecular e Celular

28

Papers

523

Citations

Citation Trend

Filter By

Papers (17) Sort By

Journal Conference Others

Heterozygous variants in SPTBN1 cause intellectual disability and autism

2021 American Journal of Medical Genetics Part A
Show All
- Source
- Cite
- Save
Citations (0)
Adult polyglucosan body disease-an atypical compound heterozygous with a novel GBE1 mutation.

2021 Neurological Sciences
Show All
- Source
- Cite
- Save
Citations (0)
The Liberfarb syndrome, a multisystem disorder including early-onset retinal degeneration, is caused by a founder mutation in the PISD gene in patients from Portugal, Brazil, and the Azores islands

2019 Investigative Ophthalmology & Visual Science
Show All
- Source
- Cite
- Save
Citations (0)
The first Portuguese family with NEFL-related Charcot-Marie-Tooth type 2 disease

2019
Show All
- Source
- Cite
- Save
Citations (0)
A report of congenital adrenal hyperplasia due to 17α-hydroxylase deficiency in two 46,XX sisters

2019
Show All
- Source
- Cite
- Save
Citations (1)
Whole gene deletion of EBF3 supporting haploinsufficiency of this gene as a mechanism of neurodevelopmental disease

2017 Frontiers in Genetics
Show All
- Source
- Cite
- Save
Citations (12)
FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes

2011 Behavioral and Brain Functions
Show All
- Source
- Cite
- Save
Citations (6)
Prostate cancer in Cowden syndrome: somatic loss and germline mutation of the PTEN gene

2011 Cancer Letters
Show All
- Source
- Cite
- Save
Citations (0)
Prostate cancer in Cowden syndrome: somatic loss and germline mutation of the PTEN gene.

2011 Cancer Genetics and Cytogenetics
Show All
- Source
- Cite
- Save
Citations (7)
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population

2011 Clinical Genetics
Show All
- Source
- Cite
- Save
Citations (9)