Literature DB >> 15666158

Isolated myocardial non-compaction in an infant with distal 4q trisomy and distal 1q monosomy.

Gabriella De Rosa1, Manuela Pardeo, Serena Bria, Elena Caresta, Isabella Vasta, Giuseppe Zampino, Marcella Zollino, Antonio Alberto Zuppa, Marco Piastra.   

Abstract

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Year:  2005        PMID： 15666158     DOI： 10.1007/s00431-005-1620-4

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  6 in total

1.  Ventricular noncompaction and distal chromosome 5q deletion.

Authors:  R M Pauli; S Scheib-Wixted; L Cripe; S Izumo; G S Sekhon
Journal:  Am J Med Genet       Date:  1999-08-06

2.  Genetic heterogeneity of isolated noncompaction of the left ventricular myocardium.

Authors:  M C Digilio; B Marino; M Bevilacqua; A M Musolino; A Giannotti; B Dallapiccola
Journal:  Am J Med Genet       Date:  1999-07-02

3.  Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome.

Authors:  F Ichida; S Tsubata; K R Bowles; N Haneda; K Uese; T Miyawaki; W J Dreyer; J Messina; H Li; N E Bowles; J A Towbin
Journal:  Circulation       Date:  2001-03-06       Impact factor: 29.690

4.  Clinical features of isolated noncompaction of the ventricular myocardium: long-term clinical course, hemodynamic properties, and genetic background.

Authors:  F Ichida; Y Hamamichi; T Miyawaki; Y Ono; T Kamiya; T Akagi; H Hamada; O Hirose; T Isobe; K Yamada; S Kurotobi; H Mito; T Miyake; Y Murakami; T Nishi; M Shinohara; M Seguchi; S Tashiro; H Tomimatsu
Journal:  J Am Coll Cardiol       Date:  1999-07       Impact factor: 24.094

5.  Isolated left ventricular noncompaction is rarely caused by mutations in G4.5, alpha-dystrobrevin and FK Binding Protein-12.

Authors:  Alexander B Kenton; Ximena Sanchez; Karen J Coveler; Kimberly A Makar; Shinawe Jimenez; Fukiko Ichida; Ross T Murphy; Perry M Elliott; William McKenna; Neil E Bowles; Jeffrey A Towbin; Karla R Bowles
Journal:  Mol Genet Metab       Date:  2004-06       Impact factor: 4.797

6.  The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.

Authors:  P D'Adamo; L Fassone; A Gedeon; E A Janssen; S Bione; P A Bolhuis; P G Barth; M Wilson; E Haan; K H Orstavik; M A Patton; A J Green; E Zammarchi; M A Donati; D Toniolo
Journal:  Am J Hum Genet       Date:  1997-10       Impact factor: 11.025
  6 in total
  5 in total

Review 1.  Left ventricular noncompaction cardiomyopathy: cardiac, neuromuscular, and genetic factors.

Authors:  Josef Finsterer; Claudia Stöllberger; Jeffrey A Towbin
Journal:  Nat Rev Cardiol       Date:  2017-01-12       Impact factor: 32.419

Review 2.  Left Ventricular Non-compaction: Is It Genetic?

Authors:  Teck Wah Ting; Saumya Shekhar Jamuar; Maggie Siewyan Brett; Ee Shien Tan; Breana Wen Min Cham; Jiin Ying Lim; Hai Yang Law; Ene Choo Tan; Jonathan Tze Liang Choo; Angeline Hwei Meeng Lai
Journal:  Pediatr Cardiol       Date:  2015-06-25       Impact factor: 1.655

3.  High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.

Authors:  Blake C Ballif; Jill A Rosenfeld; Ryan Traylor; Aaron Theisen; Patricia I Bader; Roger L Ladda; Susan L Sell; Michelle Steinraths; Urvashi Surti; Marianne McGuire; Shelley Williams; Sandra A Farrell; James Filiano; Rhonda E Schnur; Lauren B Coffey; Raymond C Tervo; Tracy Stroud; Michael Marble; Michael Netzloff; Kristen Hanson; Arthur S Aylsworth; J S Bamforth; Deepti Babu; Dmitriy M Niyazov; J Britt Ravnan; Roger A Schultz; Allen N Lamb; Beth S Torchia; Bassem A Bejjani; Lisa G Shaffer
Journal:  Hum Genet       Date:  2011-07-29       Impact factor: 4.132

Review 4.  Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction.

Authors:  Josef Finsterer
Journal:  Pediatr Cardiol       Date:  2009-01-29       Impact factor: 1.655

5.  Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.

Authors:  Elena Boland; Jill Clayton-Smith; Victoria G Woo; Shane McKee; Forbes D C Manson; Livija Medne; Elaine Zackai; Eric A Swanson; David Fitzpatrick; Kathleen J Millen; Elliott H Sherr; William B Dobyns; Graeme C M Black
Journal:  Am J Hum Genet       Date:  2007-06-13       Impact factor: 11.025
  5 in total

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