Detalhe da pesquisa
1.
Genomic landscape of Down syndrome-associated acute lymphoblastic leukemia.
Blood
; 142(2): 172-184, 2023 07 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37001051
2.
Identification of PSMB5 as a genetic modifier of fragile X-associated tremor/ataxia syndrome.
Proc Natl Acad Sci U S A
; 119(22): e2118124119, 2022 05 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35617426
3.
The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness.
J Med Genet
; 59(12): 1165-1170, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35701103
4.
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
5.
Analysis of the genomic expression profile in trisomy 18: insight into possible genes involved in the associated phenotypes.
Hum Mol Genet
; 29(2): 238-247, 2020 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31813999
6.
A candidate gene analysis and GWAS for genes associated with maternal nondisjunction of chromosome 21.
PLoS Genet
; 15(12): e1008414, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31830031
7.
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
8.
Inherited genetic susceptibility to acute lymphoblastic leukemia in Down syndrome.
Blood
; 134(15): 1227-1237, 2019 10 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31350265
9.
Analyses stratified by maternal age and recombination further characterize genes associated with maternal nondisjunction of chromosome 21.
Prenat Diagn
; 41(5): 591-609, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33596328
10.
Men with an FMR1 premutation and their health education needs.
J Genet Couns
; 30(4): 1156-1167, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33788978
11.
Study of telomere length in men who carry a fragile X premutation or full mutation allele.
Hum Genet
; 139(12): 1531-1539, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32533363
12.
Stephen T. Warren, Ph.D. (1953-2021): A remembrance.
Am J Hum Genet
; 109(1): 3-11, 2022 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34995503
13.
Clustering of comorbid conditions among women who carry an FMR1 premutation.
Genet Med
; 22(4): 758-766, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31896764
14.
Health knowledge of women with a fragile X premutation: Improving understanding with targeted educational material.
J Genet Couns
; 29(6): 983-991, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31999047
15.
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
16.
Regionally Smoothed Meta-Analysis Methods for GWAS Datasets.
Genet Epidemiol
; 40(2): 154-60, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26707090
17.
Women who carry a fragile X premutation are biologically older than noncarriers as measured by telomere length.
Am J Med Genet A
; 173(11): 2985-2994, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28941155
18.
Parental Perspectives on Pharmacological Clinical Trials: a Qualitative Study in Down Syndrome and Fragile X Syndrome.
J Genet Couns
; 26(6): 1333-1340, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28536925
19.
Evidence for dysregulation of genome-wide recombination in oocytes with nondisjoined chromosomes 21.
Hum Mol Genet
; 23(2): 408-17, 2014 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24014426
20.
Newton E. Morton (1929-2018).
Am J Hum Genet
; 102(6): 1011-1017, 2018 Jun 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33220219