Digilio MC - Search Results

1

Thricho-rhino-phalangeal syndrome and severe osteoporosis: a rare association or a feature? An effective therapeutic approach with biphosphonates.

Macchiaiolo M, Mennini M, Digilio MC, Buonuomo PS, Lepri FR, Gnazzo M, Grandin A, Angioni A, Bartuli A. Macchiaiolo M, et al. Among authors: digilio mc. Am J Med Genet A. 2014 Mar;164A(3):760-3. doi: 10.1002/ajmg.a.36327. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357341

2

Nonrandom association of atrioventricular canal and del (8p) syndrome.

Marino B, Reale A, Giannotti A, Digilio MC, Dallapiccola B. Marino B, et al. Among authors: digilio mc. Am J Med Genet. 1992 Feb 15;42(4):424-7. doi: 10.1002/ajmg.1320420404. Am J Med Genet. 1992. PMID: 1609823 Review.

3

Orocardiodigital syndrome: an oral-facial-digital type II variant associated with atrioventricular canal.

Digilio MC, Marino B, Giannotti A, Dallapiccola B. Digilio MC, et al. J Med Genet. 1996 May;33(5):416-8. doi: 10.1136/jmg.33.5.416. J Med Genet. 1996. PMID: 8733055 Free PMC article.

4

Conotruncal heart defect/microphthalmia syndrome: delineation of an autosomal recessive syndrome.

Digilio MC, Marino B, Giannotti A, Dallapiccola B. Digilio MC, et al. J Med Genet. 1997 Nov;34(11):927-9. doi: 10.1136/jmg.34.11.927. J Med Genet. 1997. PMID: 9391888 Free PMC article.

5

Intrafamilial variability of Pfeiffer-type cardiocranial syndrome.

Digilio MC, Marino B, Borzaga U, Giannotti A, Dallapiccola B. Digilio MC, et al. Am J Med Genet. 1997 Dec 31;73(4):480-3. Am J Med Genet. 1997. PMID: 9415478 Review.

6

Auxological evaluation in patients with DiGeorge/velocardiofacial syndrome (deletion 22q11.2 syndrome).

Digilio MC, Marino B, Cappa M, Cambiaso P, Giannotti A, Dallapiccola B. Digilio MC, et al. Genet Med. 2001 Jan-Feb;3(1):30-3. doi: 10.1097/00125817-200101000-00007. Genet Med. 2001. PMID: 11339374 Free article.

7

Anatomic patterns of conotruncal defects associated with deletion 22q11.

Marino B, Digilio MC, Toscano A, Anaclerio S, Giannotti A, Feltri C, de Ioris MA, Angioni A, Dallapiccola B. Marino B, et al. Among authors: digilio mc. Genet Med. 2001 Jan-Feb;3(1):45-8. doi: 10.1097/00125817-200101000-00010. Genet Med. 2001. PMID: 11339377 Free article.

8

Congenital heart defects in Kabuki syndrome.

Digilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola B. Digilio MC, et al. Am J Med Genet. 2001 May 15;100(4):269-74. doi: 10.1002/ajmg.1265. Am J Med Genet. 2001. PMID: 11343317 Review.

9

Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies.

Digilio MC, Angioni A, De Santis M, Lombardo A, Giannotti A, Dallapiccola B, Marino B. Digilio MC, et al. Clin Genet. 2003 Apr;63(4):308-13. doi: 10.1034/j.1399-0004.2003.00049.x. Clin Genet. 2003. PMID: 12702165

10

Truncus arteriosus and duplication 8q.

Digilio MC, Angioni A, Giannotti A, Dallapiccola B, Marino B. Digilio MC, et al. Am J Med Genet A. 2003 Aug 15;121A(1):79-81. doi: 10.1002/ajmg.a.20054. Am J Med Genet A. 2003. PMID: 12900908 No abstract available.

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