Strisciuglio P - Search Results

1

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. Among authors: strisciuglio p. 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

2

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.

3

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. Eur J Pediatr. 1995 Oct;154(10):866. doi: 10.1007/BF01959802. Eur J Pediatr. 1995. PMID: 8529692 No abstract available.

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

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.

7

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

8

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

9

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

10

Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions.

Concolino D, Iembo MA, Rossi E, Giglio S, Coppola G, Miraglia Del Giudice E, Strisciuglio P. Concolino D, et al. Among authors: strisciuglio p. J Med Genet. 2002 Mar;39(3):214-6. doi: 10.1136/jmg.39.3.214. J Med Genet. 2002. PMID: 11897828 Free PMC article. No abstract available.

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