Literature DB >> 20725720

Hypoplastic left heart syndrome in patients with Kabuki syndrome.

M Cristina Digilio, Anwar Baban, Bruno Marino, Bruno Dallapiccola.   

Abstract

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Year:  2010        PMID： 20725720     DOI： 10.1007/s00246-010-9773-y

Source DB:  PubMed          Journal:  Pediatr Cardiol        ISSN： 0172-0643            Impact factor:   1.655


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  16 in total

1.  Autosomal dominant inheritance of left ventricular outflow tract obstruction.

Authors:  Marja W Wessels; Rolf M F Berger; Ingrid M E Frohn-Mulder; Jolien W Roos-Hesselink; Jeanette J M Hoogeboom; Grazia S Mancini; Margot M Bartelings; Ronald de Krijger; Jury W Wladimiroff; Martinus F Niermeijer; Paul Grossfeld; Patrick J Willems
Journal:  Am J Med Genet A       Date:  2005-04-15       Impact factor: 2.802

2.  Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE).

Authors:  C Dasgupta; A M Martinez; C W Zuppan; M M Shah; L L Bailey; W H Fletcher
Journal:  Mutat Res       Date:  2001-08-08       Impact factor: 2.433

Review 3.  Congenital heart defects in Kabuki syndrome.

Authors:  M C Digilio; B Marino; A Toscano; A Giannotti; B Dallapiccola
Journal:  Am J Med Genet       Date:  2001-05-15

4.  Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability.

Authors:  Kim L McBride; Ricardo Pignatelli; Mark Lewin; Trang Ho; Susan Fernbach; Andres Menesses; Wilbur Lam; Suzanne M Leal; Norman Kaplan; Paul Schliekelman; Jeffrey A Towbin; John W Belmont
Journal:  Am J Med Genet A       Date:  2005-04-15       Impact factor: 2.802

5.  Hypoplastic left heart syndrome in patients with Kabuki syndrome.

Authors:  Grace C Kung; Philip M Chang; Mark S Sklansky; Linda M Randolph
Journal:  Pediatr Cardiol       Date:  2009-12-05       Impact factor: 1.655

6.  Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation.

Authors:  Chih-Ping Chen; Shuan-Pei Lin; Fuu-Jen Tsai; Schu-Rern Chern; Wayseen Wang
Journal:  Fertil Steril       Date:  2007-10-22       Impact factor: 7.329

7.  Common variation in ISL1 confers genetic susceptibility for human congenital heart disease.

Authors:  Kristen N Stevens; Hakon Hakonarson; Cecilia E Kim; Pieter A Doevendans; Bobby P C Koeleman; Seema Mital; Jennifer Raue; Joseph T Glessner; John G Coles; Victor Moreno; Anne Granger; Stephen B Gruber; Peter J Gruber
Journal:  PLoS One       Date:  2010-05-26       Impact factor: 3.240

8.  The 11q terminal deletion disorder: a prospective study of 110 cases.

Authors:  Paul D Grossfeld; Teresa Mattina; Zona Lai; Remi Favier; Ken Lyons Jones; Finbarr Cotter; Christopher Jones
Journal:  Am J Med Genet A       Date:  2004-08-15       Impact factor: 2.802

9.  A small and active ring X chromosome in a female with features of Kabuki syndrome.

Authors:  L Rodríguez; D Diego-Alvarez; I Lorda-Sanchez; F L Gallardo; M L Martínez-Fernández; M E Arroyo-Muñoz; M L Martínez-Frías
Journal:  Am J Med Genet A       Date:  2008-11-01       Impact factor: 2.802

10.  Narrowing the critical region within 11q24-qter for hypoplastic left heart and identification of a candidate gene, JAM3, expressed during cardiogenesis.

Authors:  Helen M Phillips; Glenn L Renforth; Cosma Spalluto; Tom Hearn; Andrew R J Curtis; Lyndsey Craven; Beatrice Havarani; Mark Clement-Jones; Carol English; Oliver Stumper; Tony Salmon; Susie Hutchinson; Mike S Jackson; David I Wilson
Journal:  Genomics       Date:  2002-04       Impact factor: 5.736
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  4 in total

1.  Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

Authors:  Nuria C Bramswig; Hermann-Josef Lüdecke; Yasemin Alanay; Beate Albrecht; Alexander Barthelmie; Koray Boduroglu; Diana Braunholz; Almuth Caliebe; Krystyna H Chrzanowska; Johanna Christina Czeschik; Sabine Endele; Elisabeth Graf; Encarna Guillén-Navarro; Pelin Özlem Simsek Kiper; Vanesa López-González; Ilaria Parenti; Jelena Pozojevic; Gulen Eda Utine; Thomas Wieland; Frank J Kaiser; Bernd Wollnik; Tim M Strom; Dagmar Wieczorek
Journal:  Hum Genet       Date:  2015-02-28       Impact factor: 4.132

Review 2.  Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.

Authors:  Mary Ella Pierpont; Martina Brueckner; Wendy K Chung; Vidu Garg; Ronald V Lacro; Amy L McGuire; Seema Mital; James R Priest; William T Pu; Amy Roberts; Stephanie M Ware; Bruce D Gelb; Mark W Russell
Journal:  Circulation       Date:  2018-11-20       Impact factor: 29.690

3.  Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.

Authors:  Damien Lederer; Bernard Grisart; Maria Cristina Digilio; Valérie Benoit; Marianne Crespin; Sophie Claire Ghariani; Isabelle Maystadt; Bruno Dallapiccola; Christine Verellen-Dumoulin
Journal:  Am J Hum Genet       Date:  2011-12-22       Impact factor: 11.025

4.  The strong association of left-side heart anomalies with Kabuki syndrome.

Authors:  Ja Kyoung Yoon; Kyung Jin Ahn; Bo Sang Kwon; Gi Beom Kim; Eun Jung Bae; Chung Il Noh; Jung Min Ko
Journal:  Korean J Pediatr       Date:  2015-07-22
  4 in total

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