Associated Papers
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients.
Guerrero-Aspizua S et al.
Orphanet Journal of Rare Diseases, 2019
Aggressive periodontitis associated with Kindler syndrome in a large Kindler syndrome pedigree.
Yıldırım TT et al.
The Turkish Journal of Pediatrics, 2017
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Kindlin-1 mutant zebrafish as an in vivo model system to study adhesion mechanisms in the epidermis.
Postel R et al.
The Journal of Investigative Dermatology, 2013
Induction of senescence pathways in Kindler syndrome primary keratinocytes.
Piccinni E et al.
The British Journal of Dermatology, 2013
Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.
Has C et al.
Human Mutation, 2011
[Kindler syndrome. A new bullous dermatosis].
Has C
Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete, 2009
Kindler syndrome: a focal adhesion genodermatosis.
Lai-Cheong JE et al.
The British Journal of Dermatology, 2009
Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome.
Lai-Cheong JE et al.
The Journal of Investigative Dermatology, 2008
A novel frameshift mutation in the KIND1 gene in Turkish siblings with Kindler syndrome.
Kaçar N et al.
The British Journal of Dermatology, 2008
Five new homozygous mutations in the KIND1 gene in Kindler syndrome.
Lai-Cheong JE et al.
The Journal of Investigative Dermatology, 2007
Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene.
Has C et al.
The Journal of Investigative Dermatology, 2006
Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.
Ashton GH et al.
The Journal of Investigative Dermatology, 2004