Cecconi A - Search Results

1

Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.

Mastromoro G, Santoro C, Motta M, Sorrentino U, Daniele P, Peduto C, Petrizzelli F, Tripodi M, Pinna V, Zanobio M, Rotundo G, Bellacchio E, Lepri F, Farina A, D'Asdia MC, Piceci-Sparascio F, Biagini T, Petracca A, Castori M, Melis D, Accadia M, Traficante G, Tarani L, Fontana P, Sirchia F, Paparella R, Currò A, Benedicenti F, Scala I, Dentici ML, Leoni C, Trevisan V, Cecconi A, Giustini S, Pizzuti A, Salviati L, Novelli A, Zampino G, Zenker M, Genuardi M, Digilio MC, Papi L, Perrotta S, Nigro V, Castellanos E, Mazza T, Trevisson E, Tartaglia M, Piluso G, De Luca A. Mastromoro G, et al. Among authors: cecconi a. Genet Med. 2024 Nov;26(11):101241. doi: 10.1016/j.gim.2024.101241. Epub 2024 Aug 10. Genet Med. 2024. PMID: 39140257

2

Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication.

Marini C, Cecconi A, Contini E, Pantaleo M, Metitieri T, Guarducci S, Giglio S, Guerrini R, Genuardi M. Marini C, et al. Among authors: cecconi a. Am J Med Genet A. 2013 Jun;161A(6):1459-64. doi: 10.1002/ajmg.a.35907. Epub 2013 Apr 30. Am J Med Genet A. 2013. PMID: 23633446

3

Premature ovarian failure (POF) and fragile X premutation females: from POF to to fragile X carrier identification, from fragile X carrier diagnosis to POF association data.

Uzielli ML, Guarducci S, Lapi E, Cecconi A, Ricci U, Ricotti G, Biondi C, Scarselli B, Vieri F, Scarnato P, Gori F, Sereni A. Uzielli ML, et al. Among authors: cecconi a. Am J Med Genet. 1999 May 28;84(3):300-3. Am J Med Genet. 1999. PMID: 10331612

4

GPR143 mutational analysis in two Italian families with X-linked ocular albinism.

Micale L, Augello B, Fusco C, Turturo MG, Granatiero M, Piemontese MR, Zelante L, Cecconi A, Merla G. Micale L, et al. Among authors: cecconi a. Genet Test Mol Biomarkers. 2009 Aug;13(4):527-31. doi: 10.1089/gtmb.2009.0030. Genet Test Mol Biomarkers. 2009. PMID: 19604113

5

Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation.

Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S, Cecconi A, Ombroni L, Andreucci E, Sani I, Brusaferri A, Lasagni A, Ricotti G, Giometto B, Nicolao P, Gasparini P, Granatiero M, Uzielli ML. Giunti L, et al. Among authors: cecconi a. Brain Dev. 2001 Dec;23 Suppl 1:S242-5. doi: 10.1016/s0387-7604(01)00342-4. Brain Dev. 2001. PMID: 11738883

6

Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia.

Nasca A, Scotton C, Zaharieva I, Neri M, Selvatici R, Magnusson OT, Gal A, Weaver D, Rossi R, Armaroli A, Pane M, Phadke R, Sarkozy A, Muntoni F, Hughes I, Cecconi A, Hajnóczky G, Donati A, Mercuri E, Zeviani M, Ferlini A, Ghezzi D. Nasca A, et al. Among authors: cecconi a. Hum Mutat. 2017 Aug;38(8):970-977. doi: 10.1002/humu.23262. Epub 2017 Jun 6. Hum Mutat. 2017. PMID: 28544275 Free PMC article.

7

Phenotype-karyotype-genotype correlations in Prader-Willi and Angelman syndromes: preliminary results.

Cecconi A, Halley DJ, Salvi A, Balestrieri C, Lapi E, Lenzi S, Ricci U, Giovannucci Uzielli ML. Cecconi A, et al. Acta Genet Med Gemellol (Roma). 1996;45(1-2):227-31. doi: 10.1017/s0001566000001355. Acta Genet Med Gemellol (Roma). 1996. PMID: 8872036 No abstract available.

8

Diagnosis and prevention of fragile-X syndrome. From the family study to the population screening programme: eighteen years of activity.

Giovannucci Uzielli ML, Guarducci S, Cecconi A, Lenzi S, Ricci U, Balestrieri C, Petrocelli P, Lapi E. Giovannucci Uzielli ML, et al. Among authors: cecconi a. Acta Genet Med Gemellol (Roma). 1996;45(1-2):303-8. doi: 10.1017/s0001566000001537. Acta Genet Med Gemellol (Roma). 1996. PMID: 8872054 No abstract available.

9

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.

Bonaglia MC, Giorda R, Beri S, De Agostini C, Novara F, Fichera M, Grillo L, Galesi O, Vetro A, Ciccone R, Bonati MT, Giglio S, Guerrini R, Osimani S, Marelli S, Zucca C, Grasso R, Borgatti R, Mani E, Motta C, Molteni M, Romano C, Greco D, Reitano S, Baroncini A, Lapi E, Cecconi A, Arrigo G, Patricelli MG, Pantaleoni C, D'Arrigo S, Riva D, Sciacca F, Dalla Bernardina B, Zoccante L, Darra F, Termine C, Maserati E, Bigoni S, Priolo E, Bottani A, Gimelli S, Bena F, Brusco A, di Gregorio E, Bagnasco I, Giussani U, Nitsch L, Politi P, Martinez-Frias ML, Martínez-Fernández ML, Martínez Guardia N, Bremer A, Anderlid BM, Zuffardi O. Bonaglia MC, et al. Among authors: cecconi a. PLoS Genet. 2011 Jul;7(7):e1002173. doi: 10.1371/journal.pgen.1002173. Epub 2011 Jul 14. PLoS Genet. 2011. PMID: 21779178 Free PMC article.

10

Usefulness of tissue tracking to differentiate tachycardia-induced cardiomyopathy from dilated cardiomyopathy in patients admitted for heart failure.

Vera A, Cecconi A, Martínez-Vives P, López-Melgar B, Olivera MJ, Hernández S, Rojas-González A, Díez-Villanueva P, Salamanca J, Caballero P, Jiménez-Borreguero LJ, Alfonso F. Vera A, et al. Among authors: cecconi a. Heart Vessels. 2024 Oct 8. doi: 10.1007/s00380-024-02471-w. Online ahead of print. Heart Vessels. 2024. PMID: 39375197

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