Literature DB >> 7946792

Familial atrioventricular septal defect: possible genetic mechanism.

M C Digilio, B Marino, A Giannotti, B Dallapiccola.   

Abstract

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Year:  1994        PMID： 7946792      PMCID： PMC1025529          DOI： 10.1136/hrt.72.3.301

Source DB:  PubMed          Journal:  Br Heart J        ISSN： 0007-0769


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  9 in total

1.  Prevalence of left-sided obstructive lesions in patients with atrioventricular canal without Down's syndrome.

Authors:  L De Biase; V Di Ciommo; L Ballerini; M Bevilacqua; C Marcelletti; B Marino
Journal:  J Thorac Cardiovasc Surg       Date:  1986-03       Impact factor: 5.209

2.  Two-dimensional echocardiography in detection of endocardial cushion defect in families.

Authors:  E Disegni; M E Pierpont; J L Bass; E Kaplinsky
Journal:  Am J Cardiol       Date:  1985-06-01       Impact factor: 2.778

3.  Atrioventricular canal in Down syndrome. Prevalence of associated cardiac malformations compared with patients without Down syndrome.

Authors:  B Marino; U Vairo; A Corno; S Nava; P Guccione; R Calabrò; C Marcelletti
Journal:  Am J Dis Child       Date:  1990-10

Review 4.  Familial atrioventricular septal defect: possible genetic mechanisms.

Authors:  A Kumar; C A Williams; B E Victorica
Journal:  Br Heart J       Date:  1994-01

5.  Isolated anterior mitral cleft. Two dimensional echocardiographic assessment and differentiation from "clefts" associated with atrioventricular septal defect.

Authors:  J F Smallhorn; M de Leval; J Stark; J Somerville; J F Taylor; R H Anderson; F J Macartney
Journal:  Br Heart J       Date:  1982-08

6.  Endocardial cushion defect: further studies of "isolated" versus "syndromic" occurrence.

Authors:  R Carmi; J A Boughman; C Ferencz
Journal:  Am J Med Genet       Date:  1992-06-01

7.  A large, dominant pedigree of atrioventricular septal defect (AVSD): exclusion from the Down syndrome critical region on chromosome 21.

Authors:  L Wilson; A Curtis; J R Korenberg; R D Schipper; L Allan; G Chenevix-Trench; A Stephenson; J Goodship; J Burn
Journal:  Am J Hum Genet       Date:  1993-12       Impact factor: 11.025

8.  Linkage analysis of autosomal dominant atrioventricular canal defects: exclusion of chromosome 21.

Authors:  A J Cousineau; R M Lauer; M E Pierpont; T L Burns; R H Ardinger; S R Patil; V C Sheffield
Journal:  Hum Genet       Date:  1994-02       Impact factor: 4.132

9.  Risk of congenital heart defects in relatives of patients with atrioventricular canal.

Authors:  M C Digilio; B Marino; M P Cicini; A Giannotti; R Formigari; B Dallapiccola
Journal:  Am J Dis Child       Date:  1993-12
  9 in total
  5 in total

1.  Isolated cleft of the mitral valve: its pathogenic relationship with endocardial cushion defects.

Authors:  Elena Boccuzzi; Emanuela Casinelli; Paolo Versacci; Bruno Marino
Journal:  Tex Heart Inst J       Date:  2010

2.  Is a shorter atrioventricular septal length an intermediate phenotype in the spectrum of nonsyndromic atrioventricular septal defects?

Authors:  Sonali S Patel; Larry T Mahoney; Trudy L Burns
Journal:  J Am Soc Echocardiogr       Date:  2012-04-25       Impact factor: 5.251

3.  Atrioventricular canal defect in patients with RASopathies.

Authors:  Maria Cristina Digilio; Francesca Romana Lepri; Maria Lisa Dentici; Alex Henderson; Anwar Baban; Maria Cristina Roberti; Rossella Capolino; Paolo Versacci; Cecilia Surace; Adriano Angioni; Marco Tartaglia; Bruno Marino; Bruno Dallapiccola
Journal:  Eur J Hum Genet       Date:  2012-07-11       Impact factor: 4.246

Review 4.  Familial recurrence of congenital heart disease: an overview and review of the literature.

Authors:  Giulio Calcagni; M Cristina Digilio; Anna Sarkozy; Bruno Dallapiccola; Bruno Marino
Journal:  Eur J Pediatr       Date:  2006-11-08       Impact factor: 3.183

Review 5.  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
  5 in total

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