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Page 1
[Genomic imprinting and human pathology. 2].
Cirillo Silengo M, Lerone M, Guala A. Cirillo Silengo M, et al. Among authors: guala a. Pediatr Med Chir. 1995 Sep-Oct;17(5):389-94. Pediatr Med Chir. 1995. PMID: 8684991 Review. Italian.
The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites.
Beygo J, Citro V, Sparago A, De Crescenzo A, Cerrato F, Heitmann M, Rademacher K, Guala A, Enklaar T, Anichini C, Cirillo Silengo M, Graf N, Prawitt D, Cubellis MV, Horsthemke B, Buiting K, Riccio A. Beygo J, et al. Among authors: guala a. Hum Mol Genet. 2013 Feb 1;22(3):544-57. doi: 10.1093/hmg/dds465. Epub 2012 Oct 30. Hum Mol Genet. 2013. PMID: 23118352 Free PMC article.
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.
Di Gregorio E, Riberi E, Belligni EF, Biamino E, Spielmann M, Ala U, Calcia A, Bagnasco I, Carli D, Gai G, Giordano M, Guala A, Keller R, Mandrile G, Arduino C, Maffè A, Naretto VG, Sirchia F, Sorasio L, Ungari S, Zonta A, Zacchetti G, Talarico F, Pappi P, Cavalieri S, Giorgio E, Mancini C, Ferrero M, Brussino A, Savin E, Gandione M, Pelle A, Giachino DF, De Marchi M, Restagno G, Provero P, Cirillo Silengo M, Grosso E, Buxbaum JD, Pasini B, De Rubeis S, Brusco A, Ferrero GB. Di Gregorio E, et al. Among authors: guala a. Clin Genet. 2017 Oct;92(4):415-422. doi: 10.1111/cge.13009. Epub 2017 Jul 25. Clin Genet. 2017. PMID: 28295210
[Hypophosphatasia: a family study].
Guala A, Tomà P, Liverani ME, Fresia A, Biroli E, Cerruti Mainardi P. Guala A, et al. Pediatr Med Chir. 1991 Mar-Apr;13(2):179-86. Pediatr Med Chir. 1991. PMID: 1896385 Italian.
A new syndrome with ocular, skeletal and renal involvement.
Cirillo Silengo M, Lopez Bell G, Biagioli M, Guala A, Porcellini G, Franceschini P. Cirillo Silengo M, et al. Among authors: guala a. Pediatr Radiol. 1987;17(3):238-41. doi: 10.1007/BF02388169. Pediatr Radiol. 1987. PMID: 3588071
The Coffin-Siris syndrome in two siblings.
Franceschini P, Cirillo Silengo M, Bianco R, Biagioli M, Guala A, Lopez Bell G. Franceschini P, et al. Among authors: guala a. Pediatr Radiol. 1986;16(4):330-3. doi: 10.1007/BF02386876. Pediatr Radiol. 1986. PMID: 3725452
[Are metoclopramide dystonias familial?].
Guala A, Mittino D, Ghini T, Quazza G. Guala A, et al. Pediatr Med Chir. 1992 Nov-Dec;14(6):617-8. Pediatr Med Chir. 1992. PMID: 1298936 Italian.
[Congenital testicular torsion: a true emergency?].
Ghini T, Guala A, La Capria A, Sorrentino G, Uffredi S. Ghini T, et al. Among authors: guala a. Pediatr Med Chir. 1995 Mar-Apr;17(2):153-5. Pediatr Med Chir. 1995. PMID: 7610080 Italian.
[Malformations of the midline. A case-control study].
Guala A, Pastore G, Cerruti Mainardi P, Liverani E, Ghini T, Tagliabue A, Capo A, Quazza G, Cigolotti AC, Zaffaroni M, Foracchia P, Garassino L, Uasone R. Guala A, et al. Pediatr Med Chir. 1997 Mar-Apr;19(2):117-9. Pediatr Med Chir. 1997. PMID: 9312746 Italian.
278 results