Detalhe da pesquisa
1.
FXTAS Neuropathology Includes Widespread Reactive Astrogliosis and White Matter Specific Astrocyte Degeneration.
Ann Neurol
; 95(3): 558-575, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38069470
2.
CGG Repeat-Associated Non-AUG Translation Utilizes a Cap-Dependent Scanning Mechanism of Initiation to Produce Toxic Proteins.
Mol Cell
; 62(2): 314-322, 2016 04 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-27041225
3.
Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome.
Am J Med Genet A
; 191(2): 357-369, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36349505
4.
Maternal FMR1 alleles expansion in newborns during transmission: a prospective cohort study.
Pediatr Res
; 93(3): 720-724, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35681093
5.
A Systematic Review of Fragile X-Associated Neuropsychiatric Disorders.
J Neuropsychiatry Clin Neurosci
; 35(2): 110-120, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36172690
6.
The diagnostic experience of women with fragile X-associated primary ovarian insufficiency (FXPOI).
J Assist Reprod Genet
; 40(1): 179-190, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36447079
7.
Narrative Review: Update on the Molecular Diagnosis of Fragile X Syndrome.
Int J Mol Sci
; 24(11)2023 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37298158
8.
Comprehensive Analysis of Fragile X Syndrome: Full Characterization of the FMR1 Locus by Long-Read Sequencing.
Clin Chem
; 68(12): 1529-1540, 2022 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36171182
9.
Frequency of FMR1 Premutation Alleles in Patients with Undiagnosed Cerebellar Ataxia and Multiple System Atrophy in the Japanese Population.
Cerebellum
; 21(6): 954-962, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34845661
10.
The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome.
Am J Med Genet A
; 188(3): 858-866, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35148024
11.
Paternal retraction of a fragile X allele to normal size, showing normal function over two generations.
Am J Med Genet A
; 188(1): 304-309, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34545686
12.
Refining reproductive risk for FMR1 premutation carriers in the general obstetric population.
Am J Med Genet A
; 188(5): 1476-1481, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35129870
13.
Female fragile X premutation carriers are at increased risk for metabolic syndrome from early adulthood.
Nutr Metab Cardiovasc Dis
; 32(4): 1010-1018, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35086765
14.
Fragile X premutation carrier screening in Pakistani preconception women in primary care consultation.
BMC Womens Health
; 22(1): 57, 2022 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35246105
15.
Advancing artificial intelligence-assisted pre-screening for fragile X syndrome.
BMC Med Inform Decis Mak
; 22(1): 152, 2022 06 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35689224
16.
[Clinical practice guidelines for Fragile X syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(11): 1181-1186, 2022 Nov 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-36317200
17.
Mosaicism in Fragile X syndrome: A family case series.
J Intellect Disabil
; 26(3): 800-807, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33998336
18.
Metformin for Treatment of Fragile X Syndrome and Other Neurological Disorders.
Annu Rev Med
; 70: 167-181, 2019 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-30365357
19.
Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(5): 799-812, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33795824
20.
Ethnicity has a multiplex impact upon the risk of a full mutation expansion among female heterozygotes for FMR1 premutation.
Genet Med
; 23(6): 1023-1027, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33473206