Concolino D - Search Results

1

Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings.

Concolino D, Sestito S, Falvo F, Romano G, Ceravolo M, Anastasio E, Pensabene L, Colombo EA, Larizza L. Concolino D, et al. Eur J Med Genet. 2019 Jan;62(1):73-76. doi: 10.1016/j.ejmg.2018.05.007. Epub 2018 May 24. Eur J Med Genet. 2019. PMID: 29753917

2

Precocious puberty in Sanfilippo IIIA disease: diagnosis and follow-up of two new cases.

Concolino D, Muzzi G, Pisaturo L, Piccirillo A, Di Natale P, Strisciuglio P. Concolino D, et al. Eur J Med Genet. 2008 Sep-Oct;51(5):466-71. doi: 10.1016/j.ejmg.2008.05.002. Epub 2008 May 23. Eur J Med Genet. 2008. PMID: 18586597

3

Long-term treatment with recombinant insulin-like growth factor 1 (IGF-1) in a child with IGF-1 gene mutation.

Concolino D, Muzzi G, Sestito S, Vega G, Bonapace G, Strisciuglio P. Concolino D, et al. Eur J Pediatr. 2010 Feb;169(2):245-7. doi: 10.1007/s00431-009-1004-2. Epub 2009 Jun 11. Eur J Pediatr. 2010. PMID: 19517134

4

Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene.

Volpi L, Roversi G, Colombo EA, Leijsten N, Concolino D, Calabria A, Mencarelli MA, Fimiani M, Macciardi F, Pfundt R, Schoenmakers EF, Larizza L. Volpi L, et al. Among authors: concolino d. Am J Hum Genet. 2010 Jan;86(1):72-6. doi: 10.1016/j.ajhg.2009.11.014. Epub 2009 Dec 10. Am J Hum Genet. 2010. PMID: 20004881 Free PMC article.

5

Co-existence of phenylketonuria and Fabry disease on a 3 year-old boy: case report.

Concolino D, Rapsomaniki M, Disabella E, Sestito S, Pascale MG, Moricca MT, Bonapace G, Arbustini E, Strisciuglio P. Concolino D, et al. BMC Pediatr. 2010 May 17;10:32. doi: 10.1186/1471-2431-10-32. BMC Pediatr. 2010. PMID: 20478016 Free PMC article.

6

Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype.

Concolino D, Roversi G, Muzzi GL, Sestito S, Colombo EA, Volpi L, Larizza L, Strisciuglio P. Concolino D, et al. Am J Med Genet A. 2010 Oct;152A(10):2588-94. doi: 10.1002/ajmg.a.33600. Am J Med Genet A. 2010. PMID: 20734427

7

A de novo 8q22.2-24.3 duplication in a patient with mild phenotype.

Concolino D, Iembo MA, Moricca MT, Rapsomaniki M, Marotta R, Galesi O, Fichera M, Romano C, Strisciuglio P. Concolino D, et al. Eur J Med Genet. 2012 Jan;55(1):67-70. doi: 10.1016/j.ejmg.2011.09.001. Epub 2011 Sep 25. Eur J Med Genet. 2012. PMID: 21971480

8

Anderson-Fabry disease in children.

Sestito S, Ceravolo F, Concolino D. Sestito S, et al. Among authors: concolino d. Curr Pharm Des. 2013;19(33):6037-45. doi: 10.2174/13816128113199990345. Curr Pharm Des. 2013. PMID: 23448455 Review.

9

Urine bikunin as a marker of renal impairment in Fabry's disease.

Lepedda AJ, Fancellu L, Zinellu E, De Muro P, Nieddu G, Deiana GA, Canu P, Concolino D, Sestito S, Formato M, Sechi G. Lepedda AJ, et al. Among authors: concolino d. Biomed Res Int. 2013;2013:205948. doi: 10.1155/2013/205948. Epub 2013 Jun 12. Biomed Res Int. 2013. PMID: 23841057 Free PMC article.

10

Home treatment in paediatric patients with Hunter syndrome: the first Italian experience.

Ceravolo F, Mascaro I, Sestito S, Pascale E, Lauricella A, Dizione E, Concolino D. Ceravolo F, et al. Among authors: concolino d. Ital J Pediatr. 2013 Sep 9;39:53. doi: 10.1186/1824-7288-39-53. Ital J Pediatr. 2013. PMID: 24011228 Free PMC article.

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