Detalhe da pesquisa
1.
Isogenic pairs of induced-pluripotent stem-derived endothelial cells identify DYRK1A/PPARG/EGR1 pathway is responsible for Down syndrome-associated pulmonary hypertension.
Hum Mol Genet
; 33(1): 78-90, 2023 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37792788
2.
Genomic landscape of Down syndrome-associated acute lymphoblastic leukemia.
Blood
; 142(2): 172-184, 2023 07 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37001051
3.
RUNX1 isoform disequilibrium promotes the development of trisomy 21-associated myeloid leukemia.
Blood
; 141(10): 1105-1118, 2023 03 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36493345
4.
Cardiovascular Complications of Down Syndrome: Scoping Review and Expert Consensus.
Circulation
; 147(5): 425-441, 2023 01 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36716257
5.
Germline GATA1s-generating mutations predispose to leukemia with acquired trisomy 21 and Down syndrome-like phenotype.
Blood
; 139(21): 3159-3165, 2022 05 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34758059
6.
In vivo quasi-elastic light scattering detects molecular changes in the lenses of adolescents with Down syndrome.
Exp Eye Res
; 241: 109818, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38422787
7.
Safety and tolerability of intravenous immunoglobulin infusion in Down syndrome regression disorder.
Am J Med Genet A
; 194(5): e63524, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38169137
8.
Follow-up of children with Down syndrome and sleep disordered breathing and the effects of treatment on actigraphically recorded sleep, quality of life, behaviour, and daytime functioning.
J Sleep Res
; 33(1): e13970, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37345340
9.
Myeloid Proliferations Associated with Down Syndrome: Clinicopathologic Characteristics of Forty Cases from Five Large Academic Institutions.
Pathobiology
; 91(1): 89-98, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-36996802
10.
Kidney and urological involvement in Down syndrome: frequent, underestimated, but associated with impaired quality of life and risk of kidney failure.
Pediatr Nephrol
; 39(2): 347-355, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37386331
11.
Six Years of Disease-free Survival After a Second Cord Blood Transplantation for Recurrent Acute Lymphocytic Leukemia in a Child With Down Syndrome.
J Pediatr Hematol Oncol
; 46(1): e100-e102, 2024 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38063382
12.
Serum apelin-12 and obesity-related markers in Egyptian children with Down syndrome.
Eur J Pediatr
; 183(1): 461-470, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37930396
13.
Walking capacity and its association with quality of life among children with down syndrome in Saudi Arabia.
BMC Pediatr
; 24(1): 55, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38238665
14.
Periodontal disease in down syndrome: Predisposing factors and potential non-surgical therapeutic approaches.
J Clin Lab Anal
; 38(1-2): e25002, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38254289
15.
Detection of severe congenital heart defects in live-born infants in Norway 2017-2020.
Acta Paediatr
; 113(1): 135-142, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37646094
16.
Neurovascular considerations in patients with Down syndrome and moyamoya syndrome.
Childs Nerv Syst
; 40(5): 1617-1621, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38273142
17.
Body composition parameters and sarcopenia in adults with Down syndrome: a case-control study.
Aging Clin Exp Res
; 36(1): 81, 2024 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38551714
18.
Dyrk1a gene dosage in glutamatergic neurons has key effects in cognitive deficits observed in mouse models of MRD7 and Down syndrome.
PLoS Genet
; 17(9): e1009777, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34587162
19.
Keratoconus in Down syndrome: Prevalence, risk factors, severity and corneal tomographic characteristics.
Clin Exp Ophthalmol
; 52(1): 22-30, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37963802
20.
Obesity, diabetes and their metabolic correlates in middle-aged adults with Down syndrome.
J Intellect Disabil Res
; 68(3): 212-222, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37899501