Borrelli P - Search Results

1

Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome.

Patrono C, Rizzo C, Tessa A, Giannotti A, Borrelli P, Carrozzo R, Piemonte F, Bertini E, Dionisi-Vici C, Santorelli FM. Patrono C, et al. Among authors: borrelli p. Am J Med Genet. 2000 Mar 13;91(2):138-40. doi: 10.1002/(sici)1096-8628(20000313)91:2<138::aid-ajmg12>3.0.co;2-q. Am J Med Genet. 2000. PMID: 10748414

2

Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male.

Stuppia L, Calabrese G, Borrelli P, Gatta V, Morizio E, Mingarelli R, Di Gilio MC, Crinò A, Giannotti A, Rappold GA, Palka G. Stuppia L, et al. Among authors: borrelli p. J Med Genet. 1999 Sep;36(9):711-3. J Med Genet. 1999. PMID: 10507731 Free PMC article.

3

The Opitz syndrome: a new designation for the clinically indistinguishable BBB and G syndromes.

Cappa M, Borrelli P, Marini R, Neri G. Cappa M, et al. Among authors: borrelli p. Am J Med Genet. 1987 Oct;28(2):303-9. doi: 10.1002/ajmg.1320280207. Am J Med Genet. 1987. PMID: 2827473

4

Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis.

Palka G, Stuppia L, Guanciali Franchi P, Chiarelli F, Fischetto R, Borrelli P, Giannotti A, Fioretti G, Rinaldi MM, Mingarelli R, Rappold GA, Calabrese G. Palka G, et al. Among authors: borrelli p. Clin Genet. 2000 Jun;57(6):449-53. doi: 10.1034/j.1399-0004.2000.570609.x. Clin Genet. 2000. PMID: 10905666

5

Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome.

Neri G, Marini R, Cappa M, Borrelli P, Opitz JM. Neri G, et al. Among authors: borrelli p. Am J Med Genet. 1988 May-Jun;30(1-2):287-99. doi: 10.1002/ajmg.1320300130. Am J Med Genet. 1988. PMID: 3177455

6

Rhizomelic bone dysplasia with club-like femora. A distinctive, easily recognisable disease. Case report.

Gugliantini P, Kozlowski K, Cappa M, Orazi C, Borrelli P, Pagnotta G. Gugliantini P, et al. Among authors: borrelli p. Radiol Med. 1991 Apr;81(4):550-2. Radiol Med. 1991. PMID: 2028050 No abstract available.

7

Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome. 1988.

Neri G, Marini R, Cappa M, Borrelli P, Opitz JM. Neri G, et al. Among authors: borrelli p. Am J Med Genet A. 2013 Nov;161A(11):2697-703. doi: 10.1002/ajmg.a.36317. Am J Med Genet A. 2013. PMID: 24166811

8

Final height after growth hormone therapy in non-growth-hormone-deficient children with short stature.

Loche S, Cambiaso P, Setzu S, Carta D, Marini R, Borrelli P, Cappa M. Loche S, et al. Among authors: borrelli p. J Pediatr. 1994 Aug;125(2):196-200. doi: 10.1016/s0022-3476(94)70192-x. J Pediatr. 1994. PMID: 8040761 Clinical Trial.

9

Adrenal steroidogenic defects in children with precocious pubarche.

del Balzo P, Borrelli P, Cambiaso P, Danielli E, Cappa M. del Balzo P, et al. Among authors: borrelli p. Horm Res. 1992;37(4-5):180-4. doi: 10.1159/000182306. Horm Res. 1992. PMID: 1337057

10

Somatostatinergic tone in children on chronic haemodialysis and after renal transplantation.

Cappa M, del Balzo P, Rizzoni G, Benedetti S, Borrelli P. Cappa M, et al. Among authors: borrelli p. Pediatr Nephrol. 1991 Jul;5(4):548-51. doi: 10.1007/BF01453699. Pediatr Nephrol. 1991. PMID: 1680365

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