Detalhe da pesquisa
1.
RFC1-Related Disorder: In Vivo Evaluation of Spinal Cord Damage.
Mov Disord
; 37(10): 2122-2128, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35877029
2.
Diagnostic Yield of Whole Exome Sequencing for Adults with Ataxia: a Brazilian Perspective.
Cerebellum
; 21(1): 49-54, 2022 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-33956305
3.
Brain Structural Signature of RFC1-Related Disorder.
Mov Disord
; 36(11): 2634-2641, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34241918
4.
Frequency and Genetic Profile of Compound Heterozygous Friedreich's Ataxia Patients-the Brazilian Experience.
Cerebellum
; 18(6): 1143-1146, 2019 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-31243663
5.
Burkholderia cepacia complex in cystic fibrosis in a Brazilian reference center.
Med Microbiol Immunol
; 206(6): 447-461, 2017 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-28965239
6.
Frequency of the allelic variant c.1150T > C in exon 10 of the fibroblast growth factor receptor 3 (FGFR3) gene is not increased in patients with pathogenic mutations and related chondrodysplasia phenotypes.
Genet Mol Biol
; 37(4): 622-4, 2014 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-25505835
7.
22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity.
Genes (Basel)
; 15(4)2024 Apr 21.
Artigo
Inglês
| MEDLINE | ID: mdl-38674452
8.
Identification of single nucleotide variants in SLC26A9 gene in patients with cystic fibrosis (p.Phe508del homozygous) and its association to Orkambi® (Lumacaftor and Ivacaftor) response in vitro.
Gene
; 871: 147428, 2023 Jun 30.
Artigo
Inglês
| MEDLINE | ID: mdl-37068695
9.
Clinical and Molecular Investigation of Familial Multiple Lipomatosis: Variants in the HMGA2 Gene.
Clin Cosmet Investig Dermatol
; 13: 1-10, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32021365
10.
CAG repeatsâ¯≥â¯34 in Ataxin-1 gene are associated with amyotrophic lateral sclerosis in a Brazilian cohort.
J Neurol Sci
; 414: 116842, 2020 Jul 15.
Artigo
Inglês
| MEDLINE | ID: mdl-32339968
11.
The frequency of the C9orf72 expansion in a Brazilian population.
Neurobiol Aging
; 66: 179.e1-179.e4, 2018 06.
Artigo
Inglês
| MEDLINE | ID: mdl-29449030
12.
Intermediate-length CAG repeat in ATXN2 is associated with increased risk for amyotrophic lateral sclerosis in Brazilian patients.
Neurobiol Aging
; 69: 292.e15-292.e18, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-29934271
13.
Re: "Molecular analysis of 9 unrelated families presenting with juvenile and chronic GM1 gangliosidosis"
J. inborn errors metab. screen
; 12: e20230017, 2024.
Artigo
Inglês
|
LILACS-Express
| ID: biblio-1534791
14.
CFTR genotype and clinical outcomes of adult patients carried as cystic fibrosis disease.
Gene
; 540(2): 183-90, 2014 May 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24583165
15.
Normal ATXN3 Allele but Not CHIP Polymorphisms Modulates Age at Onset in Machado-Joseph Disease.
Front Neurol
; 3: 164, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-23181052
16.
A combined voxel-based morphometry and 1H-MRS study in patients with Friedreich's ataxia.
J Neurol
; 256(7): 1114-20, 2009 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-19280106
17.
Frequency of 677C -> T and 1298A -> C polymorphisms in the 5, 10-methylenetetrahydrofolate reductase ( MTHFR ) gene in Turner syndrome individuals
Genet. mol. biol
; 29(1): 41-44, 2006. ilus, tab
Artigo
Inglês
| LILACS | ID: lil-423418