Ficcadenti A - Search Results

1

Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.

Callewaert BL, Loeys BL, Ficcadenti A, Vermeer S, Landgren M, Kroes HY, Yaron Y, Pope M, Foulds N, Boute O, Galán F, Kingston H, Van der Aa N, Salcedo I, Swinkels ME, Wallgren-Pettersson C, Gabrielli O, De Backer J, Coucke PJ, De Paepe AM. Callewaert BL, et al. Among authors: ficcadenti a. Hum Mutat. 2009 Mar;30(3):334-41. doi: 10.1002/humu.20854. Hum Mutat. 2009. PMID: 19006240 Review.

2

Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.

Fischer B, Callewaert B, Schröter P, Coucke PJ, Schlack C, Ott CE, Morroni M, Homann W, Mundlos S, Morava E, Ficcadenti A, Kornak U. Fischer B, et al. Among authors: ficcadenti a. Mol Genet Metab. 2014 Aug;112(4):310-6. doi: 10.1016/j.ymgme.2014.05.003. Epub 2014 May 21. Mol Genet Metab. 2014. PMID: 24913064

3

Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.

Disabella E, Grasso M, Marziliano N, Ansaldi S, Lucchelli C, Porcu E, Tagliani M, Pilotto A, Diegoli M, Lanzarini L, Malattia C, Pelliccia A, Ficcadenti A, Gabrielli O, Arbustini E. Disabella E, et al. Among authors: ficcadenti a. Eur J Hum Genet. 2006 Jan;14(1):34-8. doi: 10.1038/sj.ejhg.5201502. Eur J Hum Genet. 2006. PMID: 16251899

4

12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment.

Gabrielli O, Clarke LA, Ficcadenti A, Santoro L, Zampini L, Volpi N, Coppa GV. Gabrielli O, et al. Among authors: ficcadenti a. BMC Med Genet. 2016 Mar 10;17:19. doi: 10.1186/s12881-016-0284-4. BMC Med Genet. 2016. PMID: 26965916 Free PMC article.

5

[Malformation syndromes and deafness].

Bonifazi V, Gabrielli O, Ciferri L, Ficcadenti A, Carloni I, Giorgi PL. Bonifazi V, et al. Among authors: ficcadenti a. Pediatr Med Chir. 1993 May-Jun;15 Suppl 1:45-6. Pediatr Med Chir. 1993. PMID: 8415197 Review. Italian.

6

Mental retardation, facial anomalies, brachydactyly, cerebral angiomas, femoral nucleus necrosis: a new entity or Hall-Riggs syndrome?

Ficcadenti A, Santoro L, Petroni V, Carini C, Gabrielli O. Ficcadenti A, et al. Am J Med Genet A. 2009 May;149A(5):1001-5. doi: 10.1002/ajmg.a.32805. Am J Med Genet A. 2009. PMID: 19363808

7

[Fryns syndrome. Description of a case].

Ficcadenti A, Lorenzini L, Brocani P, Celani P, Kantar A, Chiaramoni L, Gabrielli O. Ficcadenti A, et al. Pathologica. 1993 Mar-Apr;85(1096):233-9. Pathologica. 1993. PMID: 8361787 Italian.

8

Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.

Caciotti A, Tonin R, Rigoldi M, Ferri L, Catarzi S, Cavicchi C, Procopio E, Donati MA, Ficcadenti A, Fiumara A, Barone R, Garavelli L, Rocco MD, Filocamo M, Antuzzi D, Scarpa M, Mooney SD, Li B, Skouma A, Bianca S, Concolino D, Casalone R, Monti E, Pantaleo M, Giglio S, Guerrini R, Parini R, Morrone A. Caciotti A, et al. Among authors: ficcadenti a. Hum Mutat. 2015 Mar;36(3):357-68. doi: 10.1002/humu.22751. Hum Mutat. 2015. PMID: 25545067

9

Cognitive-motor profile, clinical characteristics and diagnosis of CHARGE syndrome: an Italian experience.

Santoro L, Ficcadenti A, Zallocco F, Del Baldo G, Piraccini F, Gesuita R, Ceccarani P, Gabrielli O. Santoro L, et al. Among authors: ficcadenti a. Am J Med Genet A. 2014 Dec;164A(12):3042-51. doi: 10.1002/ajmg.a.36758. Epub 2014 Sep 24. Am J Med Genet A. 2014. PMID: 25255904

10

Hunter syndrome (Mucopolysaccharidosis type II), severe phenotype: long term follow-up on patients undergone to hematopoietic stem cell transplantation.

Annibali R, Caponi L, Morganti A, Manna M, Gabrielli O, Ficcadenti A. Annibali R, et al. Among authors: ficcadenti a. Minerva Pediatr. 2013 Oct;65(5):487-96. Minerva Pediatr. 2013. PMID: 24056375

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