Marino B - Search Results

1

The atrioventricular canal defect is the congenital heart disease connecting short rib-polydactyly and oral-facial-digital syndromes.

Digilio MC, Marino B, Giannotti A, Dallapiccola B. Digilio MC, et al. Among authors: marino b. Am J Med Genet. 1997 Jan 10;68(1):110-2. doi: 10.1002/(sici)1096-8628(19970110)68:1<110::aid-ajmg25>3.0.co;2-w. Am J Med Genet. 1997. PMID: 8986290 No abstract available.

2

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. Among authors: marino b. 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.

3

Cardiac malformations in patients with oral-facial-skeletal syndromes: clinical similarities with heterotaxia.

Digilio MC, Marino B, Ammirati A, Borzaga U, Giannotti A, Dallapiccola B. Digilio MC, et al. Among authors: marino b. Am J Med Genet. 1999 Jun 4;84(4):350-6. doi: 10.1002/(sici)1096-8628(19990604)84:4<350::aid-ajmg8>3.0.co;2-e. Am J Med Genet. 1999. PMID: 10340650

4

Atrioventricular canal defect without Down syndrome: a heterogeneous malformation.

Digilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola B. Digilio MC, et al. Among authors: marino b. Am J Med Genet. 1999 Jul 16;85(2):140-6. Am J Med Genet. 1999. PMID: 10406667 Review.

5

Atrioventricular canal and 3C (cranio-cerebello-cardiac) syndrome.

Digilio MC, Marino B, Giannotti A, Mingarelli R, Dallapiccola B. Digilio MC, et al. Among authors: marino b. Am J Med Genet. 1995 Jul 31;58(1):97-8. doi: 10.1002/ajmg.1320580120. Am J Med Genet. 1995. PMID: 7573166 Review. No abstract available.

6

Screening for celiac disease in patients with deletion 22q11.2 (DiGeorge/velo-cardio-facial syndrome).

Digilio MC, Giannotti A, Castro M, Colistro F, Ferretti F, Marino B, Dallapiccola B. Digilio MC, et al. Among authors: marino b. Am J Med Genet A. 2003 Sep 1;121A(3):286-8. doi: 10.1002/ajmg.a.20254. Am J Med Genet A. 2003. PMID: 12923874 No abstract available.

7

Ellis-van Creveld Syndrome with hydrometrocolpos is not linked to chromosome arm 4p or 20p.

Digilio MC, Torrente I, Goodship JA, Marino B, Novelli G, Giannotti A, Dallapiccola B. Digilio MC, et al. Among authors: marino b. Am J Med Genet A. 2004 Apr 30;126A(3):319-23. doi: 10.1002/ajmg.a.20237. Am J Med Genet A. 2004. PMID: 15054850 No abstract available.

8

Additional evidence that PTPN11 mutations play only a minor role in the pathogenesis of non-syndromic atrioventricular canal defect.

Sarkozy A, Lepri F, Marino B, Pizzuti A, Digilio MC, Dallapiccola B. Sarkozy A, et al. Among authors: marino b. Am J Med Genet A. 2006 Sep 15;140(18):1970-2. doi: 10.1002/ajmg.a.31394. Am J Med Genet A. 2006. PMID: 16892325 No abstract available.

9

Atrioventricular canal defect in Bardet-Biedl syndrome: clinical evidence supporting the link between atrioventricular canal defect and polydactyly syndromes with ciliary dysfunction536.

Digilio MC, Dallapiccola B, Marino B. Digilio MC, et al. Among authors: marino b. Genet Med. 2006 Aug;8(8):536-8. doi: 10.1097/01.gim.0000232482.21714.86. Genet Med. 2006. PMID: 16912586 Free article. Review. No abstract available.

10

Autosomal dominant inheritance of aplasia cutis congenita and congenital heart defect: a possible link to the Adams-Oliver syndrome.

Digilio MC, Marino B, Dallapiccola B. Digilio MC, et al. Among authors: marino b. Am J Med Genet A. 2008 Nov 1;146A(21):2842-4. doi: 10.1002/ajmg.a.32526. Am J Med Genet A. 2008. PMID: 18924173 No abstract available.

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