Maltese PE - Search Results

1

Resistance to Thyroid Hormones: A Case-Series Study.

Cannarella R, Musmeci M, Garofalo V, Timpanaro TA, Leone G, Caruso M, Maltese PE, Condorelli RA, La Vignera S, Calogero AE. Cannarella R, et al. Among authors: maltese pe. Int J Mol Sci. 2022 Sep 24;23(19):11268. doi: 10.3390/ijms231911268. Int J Mol Sci. 2022. PMID: 36232568 Free PMC article.

2

FOXC2 Disease Mutations Identified in Lymphedema Distichiasis Patients Impair Transcriptional Activity and Cell Proliferation.

Tavian D, Missaglia S, Michelini S, Maltese PE, Manara E, Mordente A, Bertelli M. Tavian D, et al. Among authors: maltese pe. Int J Mol Sci. 2020 Jul 20;21(14):5112. doi: 10.3390/ijms21145112. Int J Mol Sci. 2020. PMID: 32698337 Free PMC article.

3

Aldo-Keto Reductase 1C1 (AKR1C1) as the First Mutated Gene in a Family with Nonsyndromic Primary Lipedema.

Michelini S, Chiurazzi P, Marino V, Dell'Orco D, Manara E, Baglivo M, Fiorentino A, Maltese PE, Pinelli M, Herbst KL, Dautaj A, Bertelli M. Michelini S, et al. Among authors: maltese pe. Int J Mol Sci. 2020 Aug 29;21(17):6264. doi: 10.3390/ijms21176264. Int J Mol Sci. 2020. PMID: 32872468 Free PMC article.

4

Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families.

Iarossi G, Marino V, Maltese PE, Colombo L, D'Esposito F, Manara E, Dhuli K, Modarelli AM, Cennamo G, Magli A, Dell'Orco D, Bertelli M. Iarossi G, et al. Among authors: maltese pe. Int J Mol Sci. 2020 Dec 31;22(1):381. doi: 10.3390/ijms22010381. Int J Mol Sci. 2020. PMID: 33396523 Free PMC article.

5

Impaired Ca²⁺ Sensitivity of a Novel GCAP1 Variant Causes Cone Dystrophy and Leads to Abnormal Synaptic Transmission Between Photoreceptors and Bipolar Cells.

Marino V, Dal Cortivo G, Maltese PE, Placidi G, De Siena E, Falsini B, Bertelli M, Dell'Orco D. Marino V, et al. Among authors: maltese pe. Int J Mol Sci. 2021 Apr 14;22(8):4030. doi: 10.3390/ijms22084030. Int J Mol Sci. 2021. PMID: 33919796 Free PMC article.

6

A Novel GUCA1A Variant Associated with Cone Dystrophy Alters cGMP Signaling in Photoreceptors by Strongly Interacting with and Hyperactivating Retinal Guanylate Cyclase.

Biasi A, Marino V, Dal Cortivo G, Maltese PE, Modarelli AM, Bertelli M, Colombo L, Dell'Orco D. Biasi A, et al. Among authors: maltese pe. Int J Mol Sci. 2021 Oct 6;22(19):10809. doi: 10.3390/ijms221910809. Int J Mol Sci. 2021. PMID: 34639157 Free PMC article.

7

Low Efficacy of Genetic Tests for the Diagnosis of Primary Lymphedema Prompts Novel Insights into the Underlying Molecular Pathways.

Bonetti G, Paolacci S, Samaja M, Maltese PE, Michelini S, Michelini S, Michelini S, Ricci M, Cestari M, Dautaj A, Medori MC, Bertelli M. Bonetti G, et al. Among authors: maltese pe. Int J Mol Sci. 2022 Jul 3;23(13):7414. doi: 10.3390/ijms23137414. Int J Mol Sci. 2022. PMID: 35806420 Free PMC article.

8

Genetic Analysis of Patients with Congenital Hypogonadotropic Hypogonadism: A Case Series.

Cannarella R, Gusmano C, Condorelli RA, Bernini A, Kaftalli J, Maltese PE, Paolacci S, Dautaj A, Marceddu G, Bertelli M, La Vignera S, Calogero AE. Cannarella R, et al. Among authors: maltese pe. Int J Mol Sci. 2023 Apr 18;24(8):7428. doi: 10.3390/ijms24087428. Int J Mol Sci. 2023. PMID: 37108593 Free PMC article.

9

Omics sciences and precision medicine in testicular cancer.

Madeo G, Bonetti G, Maltese PE, Tanzi B, Tezzele S, Mareso C, Agostini F, Generali D, Donofrio CA, Cominetti M, Fioravanti A, Riccio L, Beccari T, Ceccarini MR, Calogero AE, Cannarella R, Stuppia L, Stuppia L, Gatta V, Nughman M, Cecchin S, Marceddu G, Bertelli M. Madeo G, et al. Among authors: maltese pe. Clin Ter. 2023 Nov-Dec;174(Suppl 2(6)):21-28. doi: 10.7417/CT.2023.2468. Clin Ter. 2023. PMID: 37994745 Free article. Review.

10

Blue Cone Monochromatism with Foveal Hypoplasia Caused by the Concomitant Effect of Variants in OPN1LW/OPN1MW and GPR143 Genes.

Iarossi G, Coppè AM, Passarelli C, Maltese PE, Sinibaldi L, Cappelli A, Cetola S, Novelli A, Buzzonetti L. Iarossi G, et al. Among authors: maltese pe. Int J Mol Sci. 2021 Aug 10;22(16):8617. doi: 10.3390/ijms22168617. Int J Mol Sci. 2021. PMID: 34445325 Free PMC article.

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