Development of an Allele-Specific Real-Time PCR Assay for Discrimination and Quantification of p63 R279H Mutation in EEC Syndrome-Reference-Cited by-同舟云学术

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Development of an Allele-Specific Real-Time PCR Assay for Discrimination and Quantification of p63 R279H Mutation in EEC Syndrome

Published:2012-01 Issue:1 Volume:14 Page:38-45
ISSN:1525-1578
Container-title:The Journal of Molecular Diagnostics
language:en
Short-container-title:The Journal of Molecular Diagnostics

Author:

Barbaro Vanessa,Confalonieri Letizia,Vallini Ivan,Ferrari Stefano,Ponzin Diego,Mantero Giovanni,Willoughby Colin E.,Parekh Mohit,Di Iorio Enzo

Funder

Veneto Region

Association Francaise contre les Myopathies

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

Reference14 articles.

1. The p63 gene in EEC and other syndromes;Brunner;J Med Genet,2002

2. Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation;Clements;Br J Dermatol,2010

3. p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation;van Bokhoven;Am J Hum Genet,2001

4. p63-associated disorders;Rinne;Cell Cycle,2007

5. Splitting p63;van Bokhoven;Am J Hum Genet,2002

Cited by 8 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A new variant of the ectodysplasin A receptor death domain gene associated with anhidrotic ectodermal dysplasia in a Turkish family and its simple diagnosis by restriction fragment length polymorphism;Genes & Genetic Systems;2023-08-01

2. Innovative Therapeutic Approaches for the Treatment of the Ocular Morbidities in Patients with EEC Syndrome;Cells;2023-02-02

3. New Frontiers of Corneal Gene Therapy;Human Gene Therapy;2019-08

4. Personalized Stem Cell Therapy to Correct Corneal Defects Due to a Unique Homozygous-Heterozygous Mosaicism of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome;Stem Cells Translational Medicine;2016-05-05

5. Correction of Mutant p63 in EEC Syndrome Using siRNA Mediated Allele-Specific Silencing Restores Defective Stem Cell Function;Stem Cells;2016-03-16

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