Strisciuglio P - Search Results

1

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

2

Aldolase B mutations in Italian families affected by hereditary fructose intolerance.

Sebastio G, de Franchis R, Strisciuglio P, Andria G, Dionisi Vici C, Sabetta G, Gatti R, Cross NC, Cox TM. Sebastio G, et al. Among authors: strisciuglio p. J Med Genet. 1991 Apr;28(4):241-3. doi: 10.1136/jmg.28.4.241. J Med Genet. 1991. PMID: 1856829 Free PMC article.

3

Early signs of vascular disease in homocystinuria: a noninvasive study by ultrasound methods in eight families with cystathionine-beta-synthase deficiency.

Rubba P, Faccenda F, Pauciullo P, Carbone L, Mancini M, Strisciuglio P, Carrozzo R, Sartorio R, del Giudice E, Andria G. Rubba P, et al. Among authors: strisciuglio p. Metabolism. 1990 Nov;39(11):1191-5. doi: 10.1016/0026-0495(90)90093-r. Metabolism. 1990. PMID: 2233281

4

Microtia with meatal atresia and conductive deafness: mild and severe manifestations within the same sibship.

Strisciuglio P, Ballabio A, Parenti G. Strisciuglio P, et al. J Med Genet. 1986 Oct;23(5):459-60. doi: 10.1136/jmg.23.5.459. J Med Genet. 1986. PMID: 3783624 Free PMC article.

5

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.

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

Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.

Sperandeo MP, Bassi MT, Riboni M, Parenti G, Buoninconti A, Manzoni M, Incerti B, Larocca MR, Di Rocco M, Strisciuglio P, Dianzani I, Parini R, Candito M, Endo F, Ballabio A, Andria G, Sebastio G, Borsani G. Sperandeo MP, et al. Among authors: strisciuglio p. Am J Hum Genet. 2000 Jan;66(1):92-9. doi: 10.1086/302700. Am J Hum Genet. 2000. PMID: 10631139 Free PMC article.

8

Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome.

Concolino D, Rossi E, Strisciuglio P, Iembo MA, Giorda R, Ciccone R, Tenconi R, Zuffardi O. Concolino D, et al. Among authors: strisciuglio p. J Med Genet. 2007 Oct;44(10):647-50. doi: 10.1136/jmg.2007.050963. J Med Genet. 2007. PMID: 17911656 Free PMC article.

9

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

10

Combined deficiency of beta-galactosidase and neuraminidase: natural history of the disease in the first 18 years of an American patient with late infantile onset form.

Strisciuglio P, Sly WS, Dodson WE, McAlister WH, Martin TC. Strisciuglio P, et al. Am J Med Genet. 1990 Dec;37(4):573-7. doi: 10.1002/ajmg.1320370431. Am J Med Genet. 1990. PMID: 2148053

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