Marino B - Search Results

1

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.

2

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.

3

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.

4

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.

5

Atrioventricular canal defect in patients with RASopathies.

Digilio MC, Romana Lepri F, Dentici ML, Henderson A, Baban A, Roberti MC, Capolino R, Versacci P, Surace C, Angioni A, Tartaglia M, Marino B, Dallapiccola B. Digilio MC, et al. Among authors: marino b. Eur J Hum Genet. 2013 Feb;21(2):200-4. doi: 10.1038/ejhg.2012.145. Epub 2012 Jul 11. Eur J Hum Genet. 2013. PMID: 22781091 Free PMC article.

6

Congenital heart defects in Noonan syndrome and RIT1 mutation.

Calcagni G, Baban A, Lepri FR, Marino B, Tartaglia M, Digilio MC. Calcagni G, et al. Among authors: marino b. Genet Med. 2016 Dec;18(12):1320. doi: 10.1038/gim.2016.137. Epub 2016 Sep 29. Genet Med. 2016. PMID: 27684039 Free article. No abstract available.

7

Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defect.

Baban A, Olivini N, Cantarutti N, Calì F, Vitello C, Valentini D, Adorisio R, Calcagni G, Alesi V, Di Mambro C, Villani A, Dallapiccola B, Digilio MC, Marino B, Carotti A, Drago F. Baban A, et al. Among authors: marino b. Am J Med Genet A. 2020 Jun;182(6):1342-1350. doi: 10.1002/ajmg.a.61586. Epub 2020 Apr 22. Am J Med Genet A. 2020. PMID: 32319738

8

Atrioventricular canal defect is the classic congenital heart disease in Bardet-Biedl syndrome.

Pugnaloni F, Versacci P, Marino B, Digilio MC. Pugnaloni F, et al. Among authors: marino b. Ann Hum Genet. 2021 May;85(3-4):101-102. doi: 10.1111/ahg.12413. Epub 2021 Jan 12. Ann Hum Genet. 2021. PMID: 33433911 No abstract available.

9

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.

10

Atrioventricular canal defect and postaxial polydactyly indicating phenotypic overlap of Ellis-van Creveld and Kaufman-McKusick syndromes.

Digilio MC, Marino B, Giannotti A, Dallapiccola B. Digilio MC, et al. Among authors: marino b. Pediatr Cardiol. 1997 Jan-Feb;18(1):74-5. doi: 10.1007/s002469900116. Pediatr Cardiol. 1997. PMID: 8960501 No abstract available.

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