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717 results

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Page 1
Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome.
Disciglio V, Lo Rizzo C, Mencarelli MA, Mucciolo M, Marozza A, Di Marco C, Massarelli A, Canocchi V, Baldassarri M, Ndoni E, Frullanti E, Amabile S, Anderlid BM, Metcalfe K, Le Caignec C, David A, Fryer A, Boute O, Joris A, Greco D, Pecile V, Battini R, Novelli A, Fichera M, Romano C, Mari F, Renieri A. Disciglio V, et al. Among authors: greco d. Am J Med Genet A. 2014 Jul;164A(7):1666-76. doi: 10.1002/ajmg.a.36513. Epub 2014 Apr 3. Am J Med Genet A. 2014. PMID: 24700646
What syndrome is this? Lesch-Nyhan syndrome.
Schepis C, Greco D, Siragusa M, Romano C. Schepis C, et al. Among authors: greco d. Pediatr Dermatol. 1996 Mar-Apr;13(2):169-70. doi: 10.1111/j.1525-1470.1996.tb01428.x. Pediatr Dermatol. 1996. PMID: 9122079 No abstract available.
An intriguing case of LEOPARD syndrome.
Schepis C, Greco D, Siragusa M, Batolo D, Romano C. Schepis C, et al. Among authors: greco d. Pediatr Dermatol. 1998 Mar-Apr;15(2):125-8. doi: 10.1046/j.1525-1470.1998.1998015125.x. Pediatr Dermatol. 1998. PMID: 9572697
Cardiofaciocutaneous (CFC) syndrome.
Schepis C, Greco D, Romano C. Schepis C, et al. Among authors: greco d. Australas J Dermatol. 1999 May;40(2):111-3. doi: 10.1046/j.1440-0960.1999.00333.x. Australas J Dermatol. 1999. PMID: 10333626
Three new patients with dup(17)(p11.2p11.2) without autism.
Greco D, Romano C, Reitano S, Barone C, Benedetto DD, Castiglia L, Fichera M, Galesi O, Zingale M, Buono S, Uliana V, Caselli R, Canitano R, Hayek G, Renieri A. Greco D, et al. Clin Genet. 2008 Mar;73(3):294-6. doi: 10.1111/j.1399-0004.2007.00959.x. Epub 2008 Jan 23. Clin Genet. 2008. PMID: 18218042 No abstract available.
717 results