Strisciuglio P - 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. Among authors: strisciuglio p. 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

Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency.

Ballabio A, Zollo M, Carrozzo R, Caiulo A, Zuffardi O, Cascioli CF, Viggiano D, Strisciuglio P. Ballabio A, et al. Among authors: strisciuglio p. Am J Med Genet. 1991 Nov 1;41(2):184-7. doi: 10.1002/ajmg.1320410210. Am J Med Genet. 1991. PMID: 1785631

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: strisciuglio p. 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. Among authors: strisciuglio p. 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: strisciuglio p. 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: strisciuglio p. 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. Among authors: strisciuglio p. 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. Among authors: strisciuglio p. 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. Among authors: strisciuglio p. 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: strisciuglio p. Hum Mutat. 2002 Mar;19(3):309-10. doi: 10.1002/humu.9019. Hum Mutat. 2002. PMID: 11857753

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