Detalhe da pesquisa
1.
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
2.
Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis.
Clin Chem
; 62(2): 343-52, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26715660
3.
Agreement between parents' and clinical researchers' ratings of behavioral problems in children with fragile X syndrome and chromosome 15 imprinting disorders.
Res Dev Disabil
; 131: 104338, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36179574
4.
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16â¯579 Newborns by Using a Novel Genomic Workflow.
JAMA Netw Open
; 5(1): e2141911, 2022 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34982160
5.
FMR1 mRNA from full mutation alleles is associated with ABC-CFX scores in males with fragile X syndrome.
Sci Rep
; 10(1): 11701, 2020 07 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32678152
6.
Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome.
J Neurodev Disord
; 11(1): 41, 2019 12 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31878865
7.
Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features.
Mol Autism
; 10: 21, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31073396
8.
Prader-Willi syndrome due to 15q11-q13 deletion in a girl with an inherited (13;14) Robertsonian translocation.
Am J Med Genet
; 113(3): 307-8, 2002 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12439903
9.
Barber-Say syndrome: further delineation of the clinical spectrum
Genet. mol. biol
; 23(2): 265-7, Jun. 2000. ilus, tab
Artigo
em Inglês
| LILACS | ID: lil-288569