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1.
RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily.
Medicina (Kaunas)
; 60(2)2024 Feb 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-38399542
2.
MiR-27a downregulates 14-3-3θ, RUNX1, AF4, and MLL-AF4, crucial drivers of blast transformation in t(4;11) leukemia cells.
Cell Biochem Funct
; 40(7): 706-717, 2022 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-35981137
3.
Nuclear FGFR2 Interacts with the MLL-AF4 Oncogenic Chimera and Positively Regulates HOXA9 Gene Expression in t(4;11) Leukemia Cells.
Int J Mol Sci
; 22(9)2021 Apr 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-33924850
4.
Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants.
BMC Med Genet
; 18(1): 10, 2017 Feb 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28143435
5.
Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD gene.
J Hum Genet
; 62(12): 1057-1063, 2017 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-28878337
6.
Nuclear localization of Formyl-Peptide Receptor 2 in human cancer cells.
Arch Biochem Biophys
; 603: 10-9, 2016 08 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27177968
7.
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.
Biomedicines
; 12(5)2024 May 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-38791074
8.
De Novo Large Deletions in the PHEX Gene Caused X-Linked Hypophosphataemic Rickets in Two Italian Female Infants Successfully Treated with Burosumab.
Diagnostics (Basel)
; 13(15)2023 Jul 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-37568915
9.
SET-PP2A complex as a new therapeutic target in KMT2A (MLL) rearranged AML.
Oncogene
; 42(50): 3670-3683, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37891368
10.
SLC26A4 genotypes associated with enlarged vestibular aqueduct malformation in south Italian children with sensorineural hearing loss.
Clin Chem Lab Med
; 54(9): e259-63, 2016 Sep 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-26894580
11.
Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation of CHM Gene Transcription.
Genes (Basel)
; 12(8)2021 07 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-34440285
12.
A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient.
Mol Genet Genomic Med
; 8(11): e1490, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32949230
13.
Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients.
Diagnostics (Basel)
; 10(12)2020 Nov 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-33255364
14.
Crosstalk between 14-3-3θ and AF4 enhances MLL-AF4 activity and promotes leukemia cell proliferation.
Cell Oncol (Dordr)
; 42(6): 829-845, 2019 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-31493143
15.
CHM/REP1 Transcript Expression and Loss of Visual Function in Patients Affected by Choroideremia.
Invest Ophthalmol Vis Sci
; 60(5): 1547-1555, 2019 04 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30995293
16.
Photoletter to the editor: Lamellar ichthyosis and arthrogryposis in a premature neonate.
J Dermatol Case Rep
; 9(2): 49-51, 2015 Jun 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-26236414
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