Detalhe da pesquisa
1.
Circulating ceramide levels and ratios in Emirati youth under 18 years: associations with cardiometabolic risk factors.
Lipids Health Dis
; 23(1): 93, 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38561799
2.
Introducing and Implementing Genetic Assessment in Cardio-Obstetrics Clinical Practice: Clinical and Genetic Workup of Patients with Cardiomyopathy.
Int J Mol Sci
; 24(11)2023 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37298070
3.
Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations.
Genome Res
; 29(7): 1047-1056, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31227601
4.
Bi-allelic null variant in matrix metalloproteinase-15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive.
Clin Genet
; 101(4): 403-410, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34988996
5.
Effects of canagliflozin on human myocardial redox signalling: clinical implications.
Eur Heart J
; 42(48): 4947-4960, 2021 12 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34293101
6.
Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.
Am J Hum Genet
; 99(3): 683-694, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27545674
7.
Very low calorie diets are associated with transient ventricular impairment before reversal of diastolic dysfunction in obesity.
Int J Obes (Lond)
; 43(12): 2536-2544, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30464235
8.
Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy.
J Med Genet
; 55(2): 122-130, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29122926
9.
METTL23, a transcriptional partner of GABPA, is essential for human cognition.
Hum Mol Genet
; 23(13): 3456-66, 2014 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24501276
10.
A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene.
Am J Med Genet A
; 170(8): 2111-8, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27183861
11.
Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.
Am J Med Genet A
; 170A(1): 156-61, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26395437
12.
Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.
Hum Mutat
; 34(3): 498-505, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23255084
13.
A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.
Am J Hum Genet
; 87(6): 882-9, 2010 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21109224
14.
Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations.
Mol Cell Biochem
; 373(1-2): 247-57, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23124896
15.
A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2.
Birth Defects Res A Clin Mol Teratol
; 97(7): 456-62, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23696134
16.
Role of Human Epicardial Adipose Tissue-Derived miR-92a-3p in Myocardial Redox State.
J Am Coll Cardiol
; 82(4): 317-332, 2023 07 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37468187
17.
Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients.
Hum Mol Genet
; 19(11): 2239-50, 2010 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20223752
18.
A novel mutation in PRG4 gene underlying camptodactyly-arthropathy-coxa vara-pericarditis syndrome with the possible expansion of the phenotype to include congenital cataract.
Birth Defects Res A Clin Mol Teratol
; 94(7): 553-6, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22678705
19.
Endoglin Wild Type and Variants Associated With Hereditary Hemorrhagic Telangiectasia Type 1 Undergo Distinct Cellular Degradation Pathways.
Front Mol Biosci
; 9: 828199, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35281255
20.
Etoricoxib as a treatment of choice for patients with SLCO2A1 mutation exhibiting autosomal recessive primary hypertrophic osteoarthropathy: A case report.
Front Genet
; 13: 1053999, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36583020