Detalhe da pesquisa
1.
Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease.
Mol Genet Metab
; 139(1): 107563, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37086570
2.
Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis.
Neurol Sci
; 42(4): 1523-1525, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33188503
3.
Prevalence of Fabry disease in men with tinnitus and sensorineural hearing loss.
J Appl Biomed
; 19(1): 57-61, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34907716
4.
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
Hum Mutat
; 41(1): 255-264, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31544997
5.
α-Mannosidosis - An underdiagnosed lysosomal storage disease in individuals with an 'MPS-like' phenotype.
Mol Genet Metab
; 130(2): 149-152, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32331969
6.
Diagnostic strategy for females suspected of Fabry disease.
Clin Genet
; 97(4): 655-660, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31860127
7.
Genetic diagnosis and clinical evaluation of severe fetal akinesia syndrome.
Prenat Diagn
; 40(12): 1532-1539, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32779773
8.
Genetic association in female stress urinary incontinence based on proteomic findings: a case-control study.
Int Urogynecol J
; 31(1): 117-122, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30715578
9.
Late-onset pompe disease in Iran: A clinical and genetic report.
Muscle Nerve
; 55(6): 835-840, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27649523
10.
Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) - a rare recently described gastric polyposis syndrome - report of a case.
Z Gastroenterol
; 55(11): 1131-1134, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-29141268
11.
Whole-exome sequencing to identify the cause of congenital sensorineural hearing loss in carriers of a heterozygous GJB2 mutation.
Eur Arch Otorhinolaryngol
; 274(10): 3619-3625, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28821934
12.
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
Am J Hum Genet
; 93(5): 932-44, 2013 Nov 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24183451
13.
Dipeptidylpeptidase IV (CD26) defines leukemic stem cells (LSC) in chronic myeloid leukemia.
Blood
; 123(25): 3951-62, 2014 Jun 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-24778155
14.
Enhanced expression of the stemness-related factors OCT4, SOX15 and TWIST1 in ectopic endometrium of endometriosis patients.
Reprod Biol Endocrinol
; 14(1): 81, 2016 Nov 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-27881125
15.
Karyotype plus NPM1 mutation status defines a group of elderly patients with AML (≥60 years) who benefit from intensive post-induction consolidation therapy.
Am J Hematol
; 91(12): 1239-1245, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27643573
16.
Combination of two different homozygote mutations in Pompe disease.
Pediatr Int
; 58(3): 241-243, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26946079
17.
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.
Hum Mutat
; 36(11): 1021-8, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26123727
18.
Enhanced epithelial to mesenchymal transition (EMT) and upregulated MYC in ectopic lesions contribute independently to endometriosis.
Reprod Biol Endocrinol
; 13: 75, 2015 Jul 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-26198055
19.
Mutant IDH1 inhibits PI3K/Akt signaling in human glioma.
Cancer
; 120(16): 2440-7, 2014 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24771584
20.
Predictive molecular markers in metastases to the central nervous system: recent advances and future avenues.
Acta Neuropathol
; 128(6): 879-91, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25287912