Literature DB >> 9004146

Heterotaxia syndromes and 22q11 deletion.

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

Abstract

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Mesh：

Year:  1996        PMID： 9004146      PMCID： PMC1050827          DOI： 10.1136/jmg.33.12.1052

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


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  7 in total

1.  A prospective cytogenetic study of 36 cases of DiGeorge syndrome.

Authors:  D I Wilson; I E Cross; J A Goodship; J Brown; P J Scambler; H H Bain; J F Taylor; K Walsh; A Bankier; J Burn
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025

Review 2.  Defects in the determination of left-right asymmetry.

Authors:  M P Splitt; J Burn; J Goodship
Journal:  J Med Genet       Date:  1996-06       Impact factor: 6.318

3.  Transposition of the great arteries associated with deletion of chromosome 22q11.

Authors:  S Melchionda; M C Digilio; R Mingarelli; G Novelli; P Scambler; B Marino; B Dallapiccola
Journal:  Am J Cardiol       Date:  1995-01-01       Impact factor: 2.778

4.  Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome.

Authors:  P J Scambler; A H Carey; R K Wyse; S Roach; J P Dumanski; M Nordenskjold; R Williamson
Journal:  Genomics       Date:  1991-05       Impact factor: 5.736

5.  22q11 deletions in isolated and syndromic patients with tetralogy of Fallot.

Authors:  F Amati; A Mari; M C Digilio; R Mingarelli; B Marino; A Giannotti; G Novelli; B Dallapiccola
Journal:  Hum Genet       Date:  1995-05       Impact factor: 4.132

6.  Associated cardiac anomalies in isolated and syndromic patients with tetralogy of Fallot.

Authors:  B Marino; M C Digilio; S Grazioli; R Formigari; R Mingarelli; A Giannotti; B Dallapiccola
Journal:  Am J Cardiol       Date:  1996-03-01       Impact factor: 2.778

7.  Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus.

Authors:  P J Scambler; D Kelly; E Lindsay; R Williamson; R Goldberg; R Shprintzen; D I Wilson; J A Goodship; I E Cross; J Burn
Journal:  Lancet       Date:  1992-05-09       Impact factor: 79.321
  7 in total
  1 in total

Review 1.  Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers.

Authors:  Marta Unolt; Paolo Versacci; Silvia Anaclerio; Caterina Lambiase; Giulio Calcagni; Matteo Trezzi; Adriano Carotti; Terrence Blaine Crowley; Elaine H Zackai; Elizabeth Goldmuntz; James William Gaynor; Maria Cristina Digilio; Donna M McDonald-McGinn; Bruno Marino
Journal:  Am J Med Genet A       Date:  2018-04-16       Impact factor: 2.802
  1 in total

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