Detalhe da pesquisa
1.
Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.
Am J Hum Genet
; 108(7): 1342-1349, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34143952
2.
Genetic profile of syndromic retinitis pigmentosa in Portugal.
Graefes Arch Clin Exp Ophthalmol
; 262(6): 1883-1897, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38189974
3.
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV.
Hum Mutat
; 42(3): 261-271, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33300174
4.
Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.
J Clin Immunol
; 41(8): 1804-1838, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34390440
5.
Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders.
Clin Genet
; 99(4): 588-593, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33439489
6.
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Genet Med
; 22(5): 878-888, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31949314
7.
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Genet Med
; 22(4): 822, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32047287
8.
Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy.
Am J Med Genet A
; 182(11): 2715-2721, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32856782
9.
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV.
Hum Mutat
; 43(12): 2326-2327, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36317447
10.
Macrodactyly in tuberous sclerosis complex: Case report and review of the literature.
Am J Med Genet A
; 170(7): 1903-7, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27112935
11.
Uniparental Disomy as a Mechanism for Combined Oxidative Phosphorylation Deficiency Associated with MRPS34 Gene.
Endocr Metab Immune Disord Drug Targets
; 2024 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38243972
12.
PSMB8 encoding the ß5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome.
Am J Hum Genet
; 87(6): 866-72, 2010 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21129723
13.
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.
PNAS Nexus
; 2(3): pgad043, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36909829
14.
Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant.
Eur J Med Genet
; 66(11): 104867, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37839784
15.
New ocular findings in a patient with a novel pathogenic variant in the FBXO11 gene.
J AAPOS
; 26(5): 268-270, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35940561
16.
The Added Value of a Multidisciplinary Clinic for Systemic Autoinflammatory Diseases.
J Multidiscip Healthc
; 15: 999-1010, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35548670
17.
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
Am J Med Genet A
; 155A(4): 706-16, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21438134
18.
AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data.
Nat Commun
; 12(1): 518, 2021 01 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33483490
19.
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.
NPJ Genom Med
; 6(1): 53, 2021 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34188062
20.
[Epileptic Encephalopathies of Childhood: The New Paradigm of Genetic Diagnosis]. / Encefalopatias Epilépticas Infantis: O Novo Paradigma do Diagnóstico Genético.
Acta Med Port
; 33(6): 415-424, 2020 Jun 01.
Artigo
em Português
| MEDLINE | ID: mdl-32504517