Detalhe da pesquisa
1.
FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea.
Reprod Biol Endocrinol
; 22(1): 71, 2024 Jun 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38907244
2.
Refining the risk for fragile X-associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size.
Genet Med
; 23(9): 1648-1655, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33927378
3.
Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles.
Am J Med Genet A
; 179(7): 1148-1156, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31050164
4.
Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers.
Genet Med
; 17(5): 358-64, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25210937
5.
Identification of fragile X syndrome specific molecular markers in human fibroblasts: a useful model to test the efficacy of therapeutic drugs.
Hum Mutat
; 35(12): 1485-94, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25224527
6.
Fragile X protein in newborn dried blood spots.
BMC Med Genet
; 15: 119, 2014 Oct 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-25348928
7.
Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles.
Am J Med Genet A
; 161A(4): 771-8, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23444167
8.
Fragile X analysis of 1112 prenatal samples from 1991 to 2010.
Prenat Diagn
; 31(10): 925-31, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21717484
9.
Curvilinear Association Between Language Disfluency and FMR1 CGG Repeat Size Across the Normal, Intermediate, and Premutation Range.
Front Genet
; 9: 344, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30197656
10.
Absence of AGG Interruptions Is a Risk Factor for Full Mutation Expansion Among Israeli FMR1 Premutation Carriers.
Front Genet
; 9: 606, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30619448
11.
FXPOI: Pattern of AGG Interruptions Does not Show an Association With Age at Amenorrhea Among Women With a Premutation.
Front Genet
; 9: 292, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30123240
12.
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles.
Am J Hum Genet
; 72(2): 454-64, 2003 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-12529854