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1.
A likely pathogenic ACTG1 variant in a child showing partial phenotypic overlap with Baraitser-Winter syndrome.
Am J Med Genet A
; 191(6): 1565-1569, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36810952
2.
DSP-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort.
Int J Mol Sci
; 24(3)2023 Jan 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-36768812
3.
Application of CRISPR/Cas9 to human-induced pluripotent stem cells: from gene editing to drug discovery.
Hum Genomics
; 14(1): 25, 2020 06 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-32591003
4.
Genetic and Epigenetic Factors of Takotsubo Syndrome: A Systematic Review.
Int J Mol Sci
; 22(18)2021 Sep 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-34576040
5.
Carrier frequency of CFTR variants in the non-Caucasian populations by genome aggregation database (gnomAD)-based analysis.
Ann Hum Genet
; 84(6): 463-468, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32484936
6.
Specific miRNA and Gene Deregulation Characterize the Increased Angiogenic Remodeling of Thoracic Aneurysmatic Aortopathy in Marfan Syndrome.
Int J Mol Sci
; 21(18)2020 Sep 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-32961817
7.
Modelling the pathogenesis of Myotonic Dystrophy type 1 cardiac phenotype through human iPSC-derived cardiomyocytes.
J Mol Cell Cardiol
; 118: 95-109, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29551391
8.
Reliable and versatile immortal muscle cell models from healthy and myotonic dystrophy type 1 primary human myoblasts.
Exp Cell Res
; 342(1): 39-51, 2016 Mar 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-26905645
9.
The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female.
Gynecol Endocrinol
; 33(12): 918-922, 2017 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-28609197
10.
Early Hippocampal i-LTP and LOX-1 Overexpression Induced by Anoxia: A Potential Role in Neurodegeneration in NPC Mouse Model.
Int J Mol Sci
; 18(7)2017 Jul 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-28678158
11.
Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations.
Electrophoresis
; 37(5-6): 860-4, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26681637
12.
Next Generation Sequencing and Linkage Analysis for the Molecular Diagnosis of a Novel Overlapping Syndrome Characterized by Hypertrophic Cardiomyopathy and Typical Electrical Instability of Brugada Syndrome.
Circ J
; 80(4): 938-49, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-26960954
13.
SMA Human iPSC-Derived Motor Neurons Show Perturbed Differentiation and Reduced miR-335-5p Expression.
Int J Mol Sci
; 17(8)2016 Jul 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-27483257
14.
HFE gene variants and iron-induced oxygen radical generation in idiopathic pulmonary fibrosis.
Eur Respir J
; 45(2): 483-90, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25504993
15.
Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?
BMC Med Genet
; 16: 20, 2015 Apr 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-25927938
16.
A Perturbed MicroRNA Expression Pattern Characterizes Embryonic Neural Stem Cells Derived from a Severe Mouse Model of Spinal Muscular Atrophy (SMA).
Int J Mol Sci
; 16(8): 18312-27, 2015 Aug 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-26258776
17.
Cell Electrokinetic Fingerprint: A Novel Approach Based on Optically Induced Dielectrophoresis (ODEP) for In-Flow Identification of Single Cells.
Small Methods
; : e2300923, 2024 May 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-38693090
18.
From cue to meaning: The involvement of POLD1 gene in DNA replication, repair and aging.
Mech Ageing Dev
; 211: 111790, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36764464
19.
COVID-19: S-Peptide RBD 484-508 Induces IFN-γ T-Cell Response in Naïve-to-Infection and Unvaccinated Subjects with Close Contact with SARS-CoV-2-Positive Patients.
Viruses
; 15(7)2023 06 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-37515105
20.
A Rare but Fatal Behçet Variant: The Hughes-Stovin Syndrome-Successful Case Report and New Evidence from Literature Review.
Aorta (Stamford)
; 11(4): 156-161, 2023 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-38531384