Renieri A - Search Results

1

The Autoinflammatory Diseases Alliance Registry of monogenic autoinflammatory diseases.

Gaggiano C, Vitale A, Tufan A, Ragab G, Aragona E, Wiesik-Szewczyk E, Ait-Idir D, Conti G, Iezzi L, Maggio MC, Cattalini M, Torre F, Lopalco G, Verrecchia E, de Paulis A, Sahin A, Insalaco A, Sfikakis PP, Marino A, Frassi M, Ogunjimi B, Opris-Belinski D, Parronchi P, Emmi G, Shahram F, Ciccia F, Piga M, Hernández-Rodríguez J, Pereira RMR, Alessio M, Naddei R, Olivieri AN, Giudice ED, Sfriso P, Ruscitti P, Gobbi FL, Kucuk H, Sota J, Hussein MA, Malizia G, Jahnz-Różyk K, Sari-Hamidou R, Romeo M, Ricci F, Cardinale F, Iannone F, Casa FD, Natale MF, Laskari K, Giani T, Franceschini F, Sabato V, Yildirim D, Caggiano V, Hegazy MT, Marzo RD, Kucharczyk A, Khellaf G, Tarsia M, Almaghlouth IA, Laymouna AH, Mastrorilli V, Dotta L, Benacquista L, Grosso S, Crisafulli F, Parretti V, Giordano HF, Mahmoud AAA, Nuzzolese R, Musso M, Chighizola CB, Gentileschi S, Morrone M, Cola ID, Spedicato V, Giardini HAM, Vasi I, Renieri A, Fabbiani A, Mencarelli MA, Frediani B, Balistreri A, Tosi GM, Fabiani C, Lidar M, Rigante D, Cantarini L. Gaggiano C, et al. Among authors: renieri a. Front Med (Lausanne). 2022 Sep 9;9:980679. doi: 10.3389/fmed.2022.980679. eCollection 2022. Front Med (Lausanne). 2022. PMID: 36160138 Free PMC article.

2

Clinical and molecular characterization of a patient with a 2q31.2-32.3 deletion identified by array-CGH.

Mencarelli MA, Caselli R, Pescucci C, Hayek G, Zappella M, Renieri A, Mari F. Mencarelli MA, et al. Among authors: renieri a. Am J Med Genet A. 2007 Apr 15;143A(8):858-65. doi: 10.1002/ajmg.a.31602. Am J Med Genet A. 2007. PMID: 17352388

3

A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.

Papa FT, Mencarelli MA, Caselli R, Katzaki E, Sampieri K, Meloni I, Ariani F, Longo I, Maggio A, Balestri P, Grosso S, Farnetani MA, Berardi R, Mari F, Renieri A. Papa FT, et al. Among authors: renieri a. Am J Med Genet A. 2008 Aug 1;146A(15):1994-8. doi: 10.1002/ajmg.a.32413. Am J Med Genet A. 2008. PMID: 18627055

4

14q12 Microdeletion syndrome and congenital variant of Rett syndrome.

Mencarelli MA, Kleefstra T, Katzaki E, Papa FT, Cohen M, Pfundt R, Ariani F, Meloni I, Mari F, Renieri A. Mencarelli MA, et al. Among authors: renieri a. Eur J Med Genet. 2009 Mar-Jun;52(2-3):148-52. doi: 10.1016/j.ejmg.2009.03.004. Epub 2009 Mar 19. Eur J Med Genet. 2009. PMID: 19303466

5

A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb.

Pollazzon M, Grosso S, Papa FT, Katzaki E, Marozza A, Mencarelli MA, Uliana V, Balestri P, Mari F, Renieri A. Pollazzon M, et al. Among authors: renieri a. Eur J Med Genet. 2009 Mar-Jun;52(2-3):131-3. doi: 10.1016/j.ejmg.2009.03.009. Epub 2009 Mar 24. Eur J Med Genet. 2009. PMID: 19324102

6

3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age.

Uliana V, Grosso S, Cioni M, Ariani F, Papa FT, Tamburello S, Rossi E, Katzaki E, Mucciolo M, Marozza A, Pollazzon M, Mencarelli MA, Mari F, Balestri P, Renieri A. Uliana V, et al. Among authors: renieri a. Eur J Med Genet. 2010 May-Jun;53(3):168-70. doi: 10.1016/j.ejmg.2010.02.003. Epub 2010 Feb 26. Eur J Med Genet. 2010. PMID: 20219702

7

Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion.

Cellini E, Disciglio V, Novara F, Barkovich JA, Mencarelli MA, Hayek J, Renieri A, Zuffardi O, Guerrini R. Cellini E, et al. Among authors: renieri a. Am J Med Genet A. 2012 Jul;158A(7):1793-7. doi: 10.1002/ajmg.a.35416. Epub 2012 Jun 7. Am J Med Genet A. 2012. PMID: 22678982 No abstract available.

8

Revealing the complexity of a monogenic disease: rett syndrome exome sequencing.

Grillo E, Lo Rizzo C, Bianciardi L, Bizzarri V, Baldassarri M, Spiga O, Furini S, De Felice C, Signorini C, Leoncini S, Pecorelli A, Ciccoli L, Mencarelli MA, Hayek J, Meloni I, Ariani F, Mari F, Renieri A. Grillo E, et al. Among authors: renieri a. PLoS One. 2013;8(2):e56599. doi: 10.1371/journal.pone.0056599. Epub 2013 Feb 28. PLoS One. 2013. PMID: 23468869 Free PMC article.

9

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

10

MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability.

Bianciardi L, Fichera M, Failla P, Di Marco C, Grozeva D, Mencarelli MA, Spiga O, Mari F, Meloni I, Raymond L, Renieri A, Romano C, Ariani F. Bianciardi L, et al. Among authors: renieri a. J Hum Genet. 2016 Feb;61(2):95-101. doi: 10.1038/jhg.2015.118. Epub 2015 Oct 22. J Hum Genet. 2016. PMID: 26490184 Free PMC article.

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