Pinto AM - Search Results

1

The 2019 and 2021 International Workshops on Alport Syndrome.

Daga S, Ding J, Deltas C, Savige J, Lipska-Ziętkiewicz BS, Hoefele J, Flinter F, Gale DP, Aksenova M, Kai H, Perin L, Barua M, Torra R, Miner JH, Massella L, Ljubanović DG, Lennon R, Weinstock AB, Knebelmann B, Cerkauskaite A, Gear S, Gross O, Turner AN, Baldassarri M, Pinto AM, Renieri A. Daga S, et al. Among authors: pinto am. Eur J Hum Genet. 2022 May;30(5):507-516. doi: 10.1038/s41431-022-01075-0. Epub 2022 Mar 9. Eur J Hum Genet. 2022. PMID: 35260866 Free PMC article.

2

Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology.

Fallerini C, Carignani G, Capoccitti G, Federico A, Rufa A, Pinto AM, Rizzo CL, Rossi A, Mari F, Mencarelli MA, Giannini F, Renieri A. Fallerini C, et al. Among authors: pinto am. J Neurol Sci. 2015 Dec 15;359(1-2):409-17. doi: 10.1016/j.jns.2015.09.377. Epub 2015 Oct 9. J Neurol Sci. 2015. PMID: 26481167

3

Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation.

Pinto AM, Bianciardi L, Mencarelli MA, Imperatore V, Di Marco C, Furini S, Suppiej A, Salviati L, Tenconi R, Ariani F, Mari F, Renieri A. Pinto AM, et al. Brain Dev. 2016 Jun;38(6):590-6. doi: 10.1016/j.braindev.2015.12.006. Epub 2016 Jan 2. Brain Dev. 2016. PMID: 26754451

4

Exploiting the potential of next-generation sequencing in genomic medicine.

Pinto AM, Ariani F, Bianciardi L, Daga S, Renieri A. Pinto AM, et al. Expert Rev Mol Diagn. 2016 Sep;16(9):1037-47. doi: 10.1080/14737159.2016.1224181. Expert Rev Mol Diagn. 2016. PMID: 27574853 Review.

5

Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses.

Pinto AM, Imperatore V, Bianciardi L, Baldassarri M, Galluzzi P, Furini S, Centini G, Renieri A, Mari F. Pinto AM, et al. Clin Dysmorphol. 2017 Jan;26(1):18-25. doi: 10.1097/MCD.0000000000000152. Clin Dysmorphol. 2017. PMID: 27749392

6

Alport syndrome: impact of digenic inheritance in patients management.

Fallerini C, Baldassarri M, Trevisson E, Morbidoni V, La Manna A, Lazzarin R, Pasini A, Barbano G, Pinciaroli AR, Garosi G, Frullanti E, Pinto AM, Mencarelli MA, Mari F, Renieri A, Ariani F. Fallerini C, et al. Among authors: pinto am. Clin Genet. 2017 Jul;92(1):34-44. doi: 10.1111/cge.12919. Epub 2017 Feb 22. Clin Genet. 2017. PMID: 27859054

7

Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome.

Daga S, Baldassarri M, Lo Rizzo C, Fallerini C, Imperatore V, Longo I, Frullanti E, Landucci E, Massella L, Pecoraro C, Garosi G, Ariani F, Mencarelli MA, Mari F, Renieri A, Pinto AM. Daga S, et al. Among authors: pinto am. Hum Mutat. 2018 Feb;39(2):302-314. doi: 10.1002/humu.23364. Epub 2017 Nov 22. Hum Mutat. 2018. PMID: 29098738

8

Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia.

Pinto AM, Papa FT, Frullanti E, Meloni I, Tita R, Caselli R, Fallerini C, Lopergolo D, Cetta F, Mencarelli MA, Bocchia M, Gozzetti A, Renieri A. Pinto AM, et al. Br J Haematol. 2019 Feb;184(4):657-659. doi: 10.1111/bjh.15147. Epub 2018 Feb 20. Br J Haematol. 2019. PMID: 29460960 Free article. No abstract available.

9

Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma.

Imperatore V, Pinto AM, Gelli E, Trevisson E, Morbidoni V, Frullanti E, Hadjistilianou T, De Francesco S, Toti P, Gusson E, Roversi G, Accogli A, Capra V, Mencarelli MA, Renieri A, Ariani F. Imperatore V, et al. Among authors: pinto am. Eur J Hum Genet. 2018 Jul;26(7):1026-1037. doi: 10.1038/s41431-017-0054-6. Epub 2018 Apr 17. Eur J Hum Genet. 2018. PMID: 29662154 Free PMC article.

10

Evidence of predisposing epimutation in retinoblastoma.

Gelli E, Pinto AM, Somma S, Imperatore V, Cannone MG, Hadjistilianou T, De Francesco S, Galimberti D, Currò A, Bruttini M, Mari F, Renieri A, Ariani F. Gelli E, et al. Among authors: pinto am. Hum Mutat. 2019 Feb;40(2):201-206. doi: 10.1002/humu.23684. Epub 2018 Nov 26. Hum Mutat. 2019. PMID: 30427563

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