Literature DB >> 1018315

Familial Ebstein's anomaly.

A Rosenmann, I Arad, A Simcha, T Schaap.   

Abstract

A family is described in which both a father and son are affected with Ebstein's anomaly, while several other family members manifest different cardiac malformations. Five additional instances of familial Ebstein's anomaly were found in the literature and compared with our family. Inspection of possible modes of inheritance in this group of families suggests that Ebstein's anomaly is probably inherited as a polygenic character with a threshold phenomenon.

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Year:  1976        PMID： 1018315      PMCID： PMC1013489          DOI： 10.1136/jmg.13.6.532

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  19 in total

1.  [PARTIAL MONOSOMY FOR A SMALL ACROCENTRIC CHROMOSOME].

Authors:  J LEJEUNE; R BERGER; M O RETHORE; L ARCHAMBAULT; H JEROME; S THIEFFRY; J AICARDI; M BROYER; J LAFOURCADE; J CRUVEILLER; R TURPIN
Journal:  C R Hebd Seances Acad Sci       Date:  1964-11-30

2.  [An unusual type of congenital abnormality of the mitral valve].

Authors:  J GOUFFAULT; L LE DAMANY; J LENEGRE
Journal:  Arch Mal Coeur Vaiss       Date:  1960-10

3.  [Ebstein disease in a brother and in a sister].

Authors:  J GOUFFAULT; L LE DAMANY
Journal:  Arch Mal Coeur Vaiss       Date:  1956-07

4.  Natural history of Ebstein's anomaly of tricuspid valve in childhood and adolescence. An international co-operative study of 505 cases.

Authors:  H Watson
Journal:  Br Heart J       Date:  1974-05

5.  A rapid banding technique for human chromosomes.

Authors:  M Seabright
Journal:  Lancet       Date:  1971-10-30       Impact factor: 79.321

6.  Ring-G chromosome, a new G-deletion syndrome?

Authors:  R G Weleber; F Hecht; E R Giblett
Journal:  Am J Dis Child       Date:  1968-04

7.  Ebstein's anomaly. Clinical profile and natural history.

Authors:  A E Kumar; D C Fyler; O S Miettinen; A S Nadas
Journal:  Am J Cardiol       Date:  1971-07       Impact factor: 2.778

8.  Congenital heart disease in sibships ascertained by two affected siblings.

Authors:  W Fuhrmann
Journal:  Humangenetik       Date:  1968

9.  Familial Ebstein's anomaly with emphasis on the surgical treatment.

Authors:  M Gueron; M Hirsch; J Stern; W Cohen; M J Levy
Journal:  Am J Cardiol       Date:  1966-07       Impact factor: 2.778

Review 10.  Genetics and congenital heart disease.

Authors:  R Emanuel
Journal:  Br Heart J       Date:  1970-05
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  1 in total

1.  Ebstein anomaly: assessment, management, and timing of intervention.

Authors:  Puneeta Arya; Rebecca Beroukhim
Journal:  Curr Treat Options Cardiovasc Med       Date:  2014-10
  1 in total

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