Found: 12
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SLC26A4 genotypes associated with enlarged vestibular aqueduct malformation in south Italian children with sensorineural hearing loss.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2016, v. 54, n. 9, p. e259, doi. 10.1515/cclm-2015-1216
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- Publication type:
- Article
RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod–Cone Dystrophy: Potential Founder Effect in Western Sicily.
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- Medicina (1010660X), 2024, v. 60, n. 2, p. 254, doi. 10.3390/medicina60020254
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- Publication type:
- Article
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.
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- Biomedicines, 2024, v. 12, n. 5, p. 1112, doi. 10.3390/biomedicines12051112
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- Article
A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1490
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- Article
Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation of CHM Gene Transcription.
- Published in:
- Genes, 2021, v. 12, n. 8, p. 1111, doi. 10.3390/genes12081111
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- Publication type:
- Article
Crosstalk between 14-3-3θ and AF4 enhances MLL-AF4 activity and promotes leukemia cell proliferation.
- Published in:
- Cellular Oncology (2211-3428), 2019, v. 42, n. 6, p. 829, doi. 10.1007/s13402-019-00468-6
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- Publication type:
- Article
MiR‐27a downregulates 14‐3‐3θ, RUNX1, AF4, and MLL‐AF4, crucial drivers of blast transformation in t(4;11) leukemia cells.
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- Cell Biochemistry & Function, 2022, v. 40, n. 7, p. 706, doi. 10.1002/cbf.3736
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- Publication type:
- Article
De Novo Large Deletions in the PHEX Gene Caused X-Linked Hypophosphataemic Rickets in Two Italian Female Infants Successfully Treated with Burosumab.
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- Diagnostics (2075-4418), 2023, v. 13, n. 15, p. 2552, doi. 10.3390/diagnostics13152552
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- Publication type:
- Article
Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients.
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- Diagnostics (2075-4418), 2020, v. 10, n. 12, p. 995, doi. 10.3390/diagnostics10120995
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- Article
Lamellar ichthyosis and arthrogryposis in a premature neonate.
- Published in:
- 2015
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- Publication type:
- Case Study
Nuclear FGFR2 Interacts with the MLL-AF4 Oncogenic Chimera and Positively Regulates HOXA9 Gene Expression in t(4;11) Leukemia Cells.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 9, p. 4623, doi. 10.3390/ijms22094623
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- Publication type:
- Article
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.
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- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0372-0
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- Publication type:
- Article