Concolino D - Search Results

1

Ring chromosome 10 (p15q26) in a patient with unipolar affective disorder, multiple minor anomalies, and mental retardation.

Concolino D, Iembo MA, Moricca MT, Strisciuglio P, Marotta R, Rossi E, Giglio S. Concolino D, et al. Am J Med Genet A. 2003 Dec 1;123A(2):201-3. doi: 10.1002/ajmg.a.20299. Am J Med Genet A. 2003. PMID: 14598349 No abstract available.

2

Left Atrial Strain in Cardiomyopathies and Congenital Heart Disease: A Call for Its Integration into Clinical Practice.

Pelaia G, Concolino D, Sabatino J. Pelaia G, et al. Among authors: concolino d. J Clin Med. 2023 Aug 2;12(15):5084. doi: 10.3390/jcm12155084. J Clin Med. 2023. PMID: 37568486 Free PMC article.

3

Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency.

Di Rocco M, Vici CD, Burlina A, Venturelli F, Fiumara A, Fecarotta S, Donati MA, Spada M, Concolino D, Pession A. Di Rocco M, et al. Among authors: concolino d. Orphanet J Rare Dis. 2023 Jul 21;18(1):197. doi: 10.1186/s13023-023-02797-0. Orphanet J Rare Dis. 2023. PMID: 37480063 Free PMC article.

4

Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensus.

Scarpa M, Barbato A, Bisconti A, Burlina A, Concolino D, Deodato F, Di Rocco M, Dionisi-Vici C, Donati MA, Fecarotta S, Fiumara A, Galeone C, Giona F, Giuffrida G, Manna R, Mariani P, Pession A, Scopinaro A, Spada M, Spandonaro F, Trifirò G, Carubbi F, Cappellini MD. Scarpa M, et al. Among authors: concolino d. Intern Emerg Med. 2023 Apr;18(3):831-842. doi: 10.1007/s11739-023-03238-3. Epub 2023 Mar 7. Intern Emerg Med. 2023. PMID: 36882619

5

7p22.2 Microduplication: A Pathogenic CNV?

Bauleo A, Montesanto A, Pace V, Guarasci F, Apa R, Brando R, De Stefano L, Sestito S, Concolino D, Falcone E. Bauleo A, et al. Among authors: concolino d. Genes (Basel). 2023 Jun 19;14(6):1292. doi: 10.3390/genes14061292. Genes (Basel). 2023. PMID: 37372471 Free PMC article.

6

Long survival of a patient with Marshall-Smith syndrome without respiratory complications.

Sperli D, Concolino D, Barbato C, Strisciuglio P, Andria G. Sperli D, et al. Among authors: concolino d. J Med Genet. 1993 Oct;30(10):877-9. doi: 10.1136/jmg.30.10.877. J Med Genet. 1993. PMID: 8230168 Free PMC article.

7

Normal serum levels of vitamin B12 and folic acid in children with phenylketonuria.

Strisciuglio P, Concolino D, Moricca MT, Rivalta L, Parlato G. Strisciuglio P, et al. Among authors: concolino d. Eur J Pediatr. 1995 Oct;154(10):866. doi: 10.1007/BF01959802. Eur J Pediatr. 1995. PMID: 8529692 No abstract available.

8

A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limbs.

Concolino D, Sperlì D, Cinti R, Strisciuglio P, Andria G. Concolino D, et al. Clin Genet. 1996 May;49(5):274-6. doi: 10.1111/j.1399-0004.1996.tb03787.x. Clin Genet. 1996. PMID: 8832138

9

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.

10

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

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