Literature DB >> 22795705

Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodontia.

Stéphane Boulé, Veronique Fressart, Daniela Laux, Audrey Mallet, Francoise Simon, Pascal de Groote, Damien Bonnet, Didier Klug, Philippe Charron.   

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Year:  2012        PMID： 22795705     DOI： 10.1016/j.ijcard.2012.06.068

Source DB:  PubMed          Journal:  Int J Cardiol        ISSN： 0167-5273            Impact factor:   4.164


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  9 in total

Review 1.  Plakins, a versatile family of cytolinkers: roles in skin integrity and in human diseases.

Authors:  Jamal-Eddine Bouameur; Bertrand Favre; Luca Borradori
Journal:  J Invest Dermatol       Date:  2013-12-19       Impact factor: 8.551

2.  Whole exome sequencing identifies a novel dominant missense mutation underlying leukonychia in a Pakistani family.

Authors:  Teka Khan; Manan Khan; Ayesha Yousaf; Saadullah Khan; Muhammad Naeem; Akram Shah; Ghulam Murtaza; Asim Ali; Nazish Jabeen; Hafiz Muhammad Jafar Hussain; Hui Ma; Yuanwei Zhang; Muhammad Zubair; Xiaohua Jiang; Huan Zhang
Journal:  J Hum Genet       Date:  2018-07-23       Impact factor: 3.172

Review 3.  Genetics of inherited cardiocutaneous syndromes: a review.

Authors:  Tara Bardawil; Samar Khalil; Christina Bergqvist; Ossama Abbas; Abdul Ghani Kibbi; Fadi Bitar; Georges Nemer; Mazen Kurban
Journal:  Open Heart       Date:  2016-11-22

4.  Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe).

Authors:  Josef Finsterer; Claudia Stöllberger; Eva Wollmann; Susanne Dertinger; Franco Laccone
Journal:  Mol Genet Metab Rep       Date:  2016-06-02

Review 5.  Cardiomyopathies in Children and Systemic Disorders When Is It Useful to Look beyond the Heart?

Authors:  Valentina Lodato; Giovanni Parlapiano; Federica Calì; Massimo Stefano Silvetti; Rachele Adorisio; Michela Armando; May El Hachem; Antonino Romanzo; Carlo Dionisi-Vici; Maria Cristina Digilio; Antonio Novelli; Fabrizio Drago; Massimiliano Raponi; Anwar Baban
Journal:  J Cardiovasc Dev Dis       Date:  2022-01-31

6.  Genetic Diagnostic Yield and Novel Causal Genes of Congenital Heart Disease.

Authors:  Meihua Tan; Xinrui Wang; Hongjie Liu; Xiaoyan Peng; You Yang; Haifei Yu; Liangpu Xu; Jia Li; Hua Cao
Journal:  Front Genet       Date:  2022-07-13       Impact factor: 4.772

7.  Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.

Authors:  Lynn M Boyden; Chen Y Kam; Angela Hernández-Martín; Jing Zhou; Brittany G Craiglow; Robert Sidbury; Erin F Mathes; Sheilagh M Maguiness; Debra A Crumrine; Mary L Williams; Ronghua Hu; Richard P Lifton; Peter M Elias; Kathleen J Green; Keith A Choate
Journal:  Hum Mol Genet       Date:  2015-11-24       Impact factor: 6.150

8.  Prevent Sudden Death in Carvajal Syndrome With Left Ventricular Hypertrabeculation/Noncompaction.

Authors:  Claudia Stollberger; Josef Finsterer
Journal:  Iran J Pediatr       Date:  2016-05-15       Impact factor: 0.364

Review 9.  Leukonychia: What Can White Nails Tell Us?

Authors:  Matilde Iorizzo; Michela Starace; Marcel C Pasch
Journal:  Am J Clin Dermatol       Date:  2022-02-02       Impact factor: 7.403
  9 in total

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