Ficcadenti A - Search Results

1

Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS.

Masciadri M, Ficcadenti A, Milani D, Cogliati F, Divizia MT, Larizza L, Russo S. Masciadri M, et al. Among authors: ficcadenti a. Front Neurol. 2018 Nov 27;9:967. doi: 10.3389/fneur.2018.00967. eCollection 2018. Front Neurol. 2018. PMID: 30538663 Free PMC article.

2

Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.

Spena S, Milani D, Rusconi D, Negri G, Colapietro P, Elcioglu N, Bedeschi F, Pilotta A, Spaccini L, Ficcadenti A, Magnani C, Scarano G, Selicorni A, Larizza L, Gervasini C. Spena S, et al. Among authors: ficcadenti a. Clin Genet. 2015 Nov;88(5):431-40. doi: 10.1111/cge.12537. Epub 2014 Dec 9. Clin Genet. 2015. PMID: 25388907

3

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.

Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group; Johnson C, Attié-Bitach T, Gleeson JG, Valente EM. Travaglini L, et al. Eur J Hum Genet. 2013 Oct;21(10):1074-8. doi: 10.1038/ejhg.2012.305. Epub 2013 Feb 6. Eur J Hum Genet. 2013. PMID: 23386033 Free PMC article.

4

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

5

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

6

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

7

Child with oral, facial, digital, and skeletal anomalies and psychomotor delay: a new OFDS form?

Gabrielli O, Ficcadenti A, Fabrizzi G, Perri P, Mercuri A, Coppa GV, Giorgi P. Gabrielli O, et al. Among authors: ficcadenti a. Am J Med Genet. 1994 Nov 15;53(3):290-3. doi: 10.1002/ajmg.1320530315. Am J Med Genet. 1994. PMID: 7531942

8

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.

9

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.

Pinna V, Lanari V, Daniele P, Consoli F, Agolini E, Margiotti K, Bottillo I, Torrente I, Bruselles A, Fusilli C, Ficcadenti A, Bargiacchi S, Trevisson E, Forzan M, Giustini S, Leoni C, Zampino G, Digilio MC, Dallapiccola B, Clementi M, Tartaglia M, De Luca A. Pinna V, et al. Among authors: ficcadenti a. Eur J Hum Genet. 2015 Aug;23(8):1068-71. doi: 10.1038/ejhg.2014.243. Epub 2014 Nov 5. Eur J Hum Genet. 2015. PMID: 25370043 Free PMC article.

10

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

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