Concolino D - Search Results

1

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

2

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.

3

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.

4

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

5

Delayed gastric emptying: a novel gastrointestinal finding in Turner's syndrome.

Staiano A, Salerno M, Di Maio S, Marsullo G, Marino A, Concolino D, Strisciuglio P. Staiano A, et al. Among authors: concolino d. Arch Dis Child. 1996 Nov;75(5):440-3. doi: 10.1136/adc.75.5.440. Arch Dis Child. 1996. PMID: 8957960 Free PMC article.

6

Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene.

Guzzetta V, Bonapace G, Dianzani I, Parenti G, Lecora M, Giannattasio S, Concolino D, Strisciuglio P, Sebastio G, Andria G. Guzzetta V, et al. Among authors: concolino d. J Inherit Metab Dis. 1997 Sep;20(5):619-24. doi: 10.1023/a:1005315106604. J Inherit Metab Dis. 1997. PMID: 9323556

7

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.

8

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

9

Congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia (Cantú syndrome): a new case with unusual radiological findings.

Concolino D, Formicola S, Camera G, Strisciuglio P. Concolino D, et al. Am J Med Genet. 2000 May 29;92(3):191-4. Am J Med Genet. 2000. PMID: 10817653

10

Co-existence of frataxin and cardiac troponin T gene mutations in a child with Friedreich Ataxia and familial hypertrophic cardiomyopathy.

Cuda G, Mussari A, Concolino D, Costanzo FS, Strisciuglio P. Cuda G, et al. Among authors: concolino d. Hum Mutat. 2002 Mar;19(3):309-10. doi: 10.1002/humu.9019. Hum Mutat. 2002. PMID: 11857753

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