Di Rocco M - Search Results

1

New multisystemic disorder involving heart valves, skin, bones, and joints in two brothers.

Borrone C, Di Rocco M, Crovato F, Camera G, Gambini C. Borrone C, et al. Among authors: di rocco m. Am J Med Genet. 1993 Apr 15;46(2):228-34. doi: 10.1002/ajmg.1320460225. Am J Med Genet. 1993. PMID: 8484415

2

Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): a new syndrome?

Di Rocco M, Picco P, Arslanian A, Restagno G, Perfumo F, Buoncompagni A, Gattorno M, Borrone C. Di Rocco M, et al. Am J Med Genet. 1997 Nov 28;73(1):1-4. doi: 10.1002/(sici)1096-8628(19971128)73:1<1::aid-ajmg1>3.0.co;2-y. Am J Med Genet. 1997. PMID: 9375913

3

Ataxia, ocular telangiectasia, chromosome instability, and Langerhans cell histiocytosis in a patient with an unknown breakage syndrome.

Di Rocco M, Arslanian A, Romanengo M, Dagna-Bricarelli F, Borrone C. Di Rocco M, et al. J Med Genet. 1999 Feb;36(2):159-60. J Med Genet. 1999. PMID: 10051019 Free PMC article.

4

Arthrogryposis, cholestatic pigmentary liver disease and renal dysfunction: report of a second family.

Di Rocco M, Reboa E, Barabino A, Larnaout A, Canepa M, Savioli C, Cremonte M, Borrone C. Di Rocco M, et al. Am J Med Genet. 1990 Oct;37(2):237-40. doi: 10.1002/ajmg.1320370214. Am J Med Genet. 1990. PMID: 2248291

5

Report on two patients with Costello syndrome and sialuria.

Di Rocco M, Gatti R, Gandullia P, Barabino A, Picco P, Borrone C. Di Rocco M, et al. Am J Med Genet. 1993 Nov 15;47(7):1135-40. doi: 10.1002/ajmg.1320470737. Am J Med Genet. 1993. PMID: 8291534

6

[The Simpson-Golabi-Behmel syndrome. The stages of a diagnostic procedure].

Di Rocco M, Lignana E, Faraci M, Leveratto L, Borrone C. Di Rocco M, et al. Minerva Pediatr. 1993 Apr;45(4):163-7. Minerva Pediatr. 1993. PMID: 8355647 Italian.

7

Sponastrime dysplasia: report on two siblings with metal retardation.

Camera G, Camera A, Di Rocco M, Gatti R. Camera G, et al. Among authors: di rocco m. Pediatr Radiol. 1993;23(8):611-4. doi: 10.1007/BF02014981. Pediatr Radiol. 1993. PMID: 8152878

8

Role of haematological, pulmonary and renal complications in the long-term prognosis of patients with lysinuric protein intolerance.

DiRocco M, Garibotto G, Rossi GA, Caruso U, Taccone A, Picco P, Borrone C. DiRocco M, et al. Eur J Pediatr. 1993 May;152(5):437-40. doi: 10.1007/BF01955906. Eur J Pediatr. 1993. PMID: 8319714

9

Sjögren-Larsson syndrome: nuclear magnetic resonance imaging of the brain in a 4-year-old boy.

Di Rocco M, Filocamo M, Tortori-Donati P, Veneselli E, Borrone C, Rizzo WB. Di Rocco M, et al. J Inherit Metab Dis. 1994;17(1):112-4. doi: 10.1007/BF00735407. J Inherit Metab Dis. 1994. PMID: 8051916 No abstract available.

10

Arthrogryposis, renal dysfunction and cholestasis syndrome: report of five patients from three Italian families.

Di Rocco M, Callea F, Pollice B, Faraci M, Campiani F, Borrone C. Di Rocco M, et al. Eur J Pediatr. 1995 Oct;154(10):835-9. doi: 10.1007/BF01959793. Eur J Pediatr. 1995. PMID: 8529684 Review.

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