Renieri A - Search Results

1

A new mutation in DNM2 gene in a large Italian family.

Lopergolo D, Bocci S, Pinto AM, Valentino F, Doddato G, Ginanneschi F, Volpi N, Renieri A, Giannini F. Lopergolo D, et al. Among authors: renieri a. Neurol Sci. 2021 Jun;42(6):2509-2513. doi: 10.1007/s10072-020-04972-8. Epub 2021 Jan 18. Neurol Sci. 2021. PMID: 33459893

2

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation.

Meloni I, Muscettola M, Raynaud M, Longo I, Bruttini M, Moizard MP, Gomot M, Chelly J, des Portes V, Fryns JP, Ropers HH, Magi B, Bellan C, Volpi N, Yntema HG, Lewis SE, Schaffer JE, Renieri A. Meloni I, et al. Among authors: renieri a. Nat Genet. 2002 Apr;30(4):436-40. doi: 10.1038/ng857. Epub 2002 Mar 11. Nat Genet. 2002. PMID: 11889465

3

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: renieri a. 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

4

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. Among authors: renieri a. 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

5

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

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

6

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. Among authors: renieri a. Clin Dysmorphol. 2017 Jan;26(1):18-25. doi: 10.1097/MCD.0000000000000152. Clin Dysmorphol. 2017. PMID: 27749392

7

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: renieri a. Clin Genet. 2017 Jul;92(1):34-44. doi: 10.1111/cge.12919. Epub 2017 Feb 22. Clin Genet. 2017. PMID: 27859054

8

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: renieri a. Hum Mutat. 2018 Feb;39(2):302-314. doi: 10.1002/humu.23364. Epub 2017 Nov 22. Hum Mutat. 2018. PMID: 29098738

9

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. Among authors: renieri a. 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.

10

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: renieri a. 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.

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