Literature DB >> 16912586

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

Maria Cristina Digilio, Bruno Dallapiccola, Bruno Marino.   

Abstract

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Year:  2006        PMID： 16912586     DOI： 10.1097/01.gim.0000232482.21714.86

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


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  6 in total

1.  Atrioventricular canal defect as a sign of laterality defect in Ellis-van Creveld and polydactyly syndromes with ciliary and Hedgehog signaling dysfunction.

Authors:  M Cristina Digilio; Bruno Dallapiccola; Bruno Marino
Journal:  Pediatr Cardiol       Date:  2012-03-06       Impact factor: 1.655

2.  A Novel Mouse Model for Cilia-Associated Cardiovascular Anomalies with a High Penetrance of Total Anomalous Pulmonary Venous Return.

Authors:  Tara A Burns; Raymond N Deepe; John Bullard; Aimee L Phelps; Katelynn A Toomer; Emilye Hiriart; Russell A Norris; Courtney J Haycraft; Andy Wessels
Journal:  Anat Rec (Hoboken)       Date:  2018-10-05       Impact factor: 2.064

3.  Bardet-Biedl syndrome: multiple fingers with multiple defects!

Authors:  Jagadesh Madireddi; Vasuveda Acharya; Jandhyala Suryanarayana; Handattu Manjunath Hande; Ranjan Shetty
Journal:  BMJ Case Rep       Date:  2015-11-26

4.  miRNAs, target genes expression and morphological analysis on the heart in gestational protein-restricted offspring.

Authors:  Heloisa Balan Assalin; José Antonio Rocha Gontijo; Patrícia Aline Boer
Journal:  PLoS One       Date:  2019-04-29       Impact factor: 3.240

Review 5.  Genetics of atrioventricular canal defects.

Authors:  Flaminia Pugnaloni; Maria Cristina Digilio; Carolina Putotto; Enrica De Luca; Bruno Marino; Paolo Versacci
Journal:  Ital J Pediatr       Date:  2020-05-13       Impact factor: 2.638

Review 6.  Some Isolated Cardiac Malformations Can Be Related to Laterality Defects.

Authors:  Paolo Versacci; Flaminia Pugnaloni; Maria Cristina Digilio; Carolina Putotto; Marta Unolt; Giulio Calcagni; Anwar Baban; Bruno Marino
Journal:  J Cardiovasc Dev Dis       Date:  2018-05-02
  6 in total

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