Concolino D - Search Results

1

Cardiac involvement in Lysosomal Storage Diseases.

Sestito S, Parisi F, Tallarico V, Tarsitano F, Roppa K, Pensabene L, Chimenz R, Ceravolo G, Calabrò MP, De Sarro R, Moricca MT, Bonapace G, Concolino D. Sestito S, et al. Among authors: concolino d. J Biol Regul Homeost Agents. 2020 Jul-Aug;34(4 Suppl. 2):107-119. SPECIAL ISSUE: FOCUS ON PEDIATRIC CARDIOLOGY. J Biol Regul Homeost Agents. 2020. PMID: 33000609 Review.

2

Psychopathological Risk Assessment in Children with Hyperphenylalaninemia.

Risoleo MC, Siciliano M, Vetri L, Bitetti I, Di Sessa A, Carotenuto M, Annunziata F, Concolino D, Marotta R. Risoleo MC, et al. Among authors: concolino d. Children (Basel). 2022 Oct 31;9(11):1679. doi: 10.3390/children9111679. Children (Basel). 2022. PMID: 36360407 Free PMC article.

3

Partial trisomy 1(q42-->qter): a new case with a mild phenotype.

Concolino D, Cinti R, Ferraro L, Moricca MT, Strisciuglio P. Concolino D, et al. J Med Genet. 1998 Jan;35(1):75-7. doi: 10.1136/jmg.35.1.75. J Med Genet. 1998. PMID: 9475102 Free PMC article. Review.

4

Centric fission of chromosome 9 in a boy with trisomy 9p.

Concolino D, Cinti R, Moricca M, Andria G, Strisciuglio P. Concolino D, et al. Am J Med Genet. 1998 Aug 27;79(1):35-7. doi: 10.1002/(sici)1096-8628(19980827)79:1<35::aid-ajmg9>3.0.co;2-h. Am J Med Genet. 1998. PMID: 9738866

5

Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients.

Concolino D, Muzzi G, Rapsomaniki M, Moricca MT, Pascale MG, Strisciuglio P. Concolino D, et al. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S193-7. doi: 10.1007/s10545-007-0788-3. Epub 2008 Apr 15. J Inherit Metab Dis. 2008. PMID: 18425437

6

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

7

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.

8

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

9

Germline mosaicism for the c.2021G > A (p.Arg674Gln) mutation in siblings with trismus pseudocamptodactyly.

Bonapace G, Ceravolo F, Piccirillo A, Duro G, Strisciuglio P, Concolino D. Bonapace G, et al. Among authors: concolino d. Am J Med Genet A. 2010 Nov;152A(11):2898-900. doi: 10.1002/ajmg.a.33671. Am J Med Genet A. 2010. PMID: 20949528 No abstract available.

10

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

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