Detalhe da pesquisa
1.
Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial.
Genet Med
; 22(1): 44-52, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31281181
2.
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.
Genome Res
; 23(9): 1410-21, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23783273
3.
Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes.
Hum Mol Genet
; 21(14): 3156-72, 2012 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22511594
4.
How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?
Am J Med Genet A
; 155A(4): 880-4, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21416592
5.
Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3.
Eur J Med Genet
; 63(5): 103869, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32006683
6.
Transcriptomic study in women with trisomy 21 identifies a possible role of the GTPases of the immunity-associated proteins (GIMAP) in the protection of breast cancer.
Sci Rep
; 10(1): 9447, 2020 06 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32523132
7.
A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22).
Eur J Med Genet
; 62(11): 103576, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30423442
8.
Report of a Second Lebanese Family with Basel-Vanagaite-Smirin-Yosef Syndrome: Possible Founder Mutation.
Mol Syndromol
; 10(4): 219-222, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31602195
9.
COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants?
Mol Syndromol
; 9(6): 319-323, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30800049
10.
Methylomic profiling in trisomy 21 identifies cognition- and Alzheimer's disease-related dysregulation.
Clin Epigenetics
; 11(1): 195, 2019 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-31843015
11.
Plasma nitrate levels are increased in adult Down syndrome patients.
Biomarkers
; 18(4): 373-4, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23627616
12.
Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.
Mol Genet Genomic Med
; 6(6): 1041-1052, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30293248
13.
Characterization of a ceramide kinase-like protein.
Biochim Biophys Acta
; 1687(1-3): 31-43, 2005 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-15708351
14.
Neuroinflammation and Aß accumulation linked to systemic inflammation are decreased by genetic PKR down-regulation.
Sci Rep
; 5: 8489, 2015 Feb 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-25687824
15.
The intellectual disability of trisomy 21: differences in gene expression in a case series of patients with lower and higher IQ.
Eur J Hum Genet
; 21(11): 1253-9, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23422941
16.
BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down syndrome patients.
Mol Neurobiol
; 46(2): 297-303, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22669612
17.
A 56-year-old female patient with facio-oculo-acoustico-renal syndrome (FOAR) syndrome. Report on the natural history and of a novel mutation.
Eur J Med Genet
; 52(5): 341-3, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19577669
18.
Ceramide kinase targeting and activity determined by its N-terminal pleckstrin homology domain.
Biochem Biophys Res Commun
; 324(4): 1215-9, 2004 Nov 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-15504344