Literature DB >> 27297972

The mysteries of mosaicism: phenotypic variability in a family with incontinentia pigmenti.

Dimitra Kiritsi1, Manthoula Valari2, Athanasios Michos3, Vaia Karakosta3, Cristina Has1.   

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Year:  2016        PMID： 27297972     DOI： 10.1684/ejd.2016.2829

Source DB:  PubMed          Journal:  Eur J Dermatol        ISSN： 1167-1122            Impact factor:   3.328


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  2 in total

1.  Combinatorial Omics Analysis Reveals Perturbed Lysosomal Homeostasis in Collagen VII-deficient Keratinocytes.

Authors:  Kerstin Thriene; Björn Andreas Grüning; Olivier Bornert; Anika Erxleben; Juna Leppert; Ioannis Athanasiou; Ekkehard Weber; Dimitra Kiritsi; Alexander Nyström; Thomas Reinheckel; Rolf Backofen; Cristina Has; Leena Bruckner-Tuderman; Jörn Dengjel
Journal:  Mol Cell Proteomics       Date:  2018-01-11       Impact factor: 5.911

2.  Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implications.

Authors:  Courtney B Cook; Linlea Armstrong; Cornelius F Boerkoel; Lorne A Clarke; Christèle du Souich; Michelle K Demos; William T Gibson; Harinder Gill; Elena Lopez; Millan S Patel; Kathryn Selby; Ziad Abu-Sharar; Alison M Elliott; Jan M Friedman
Journal:  Cold Spring Harb Mol Case Stud       Date:  2021-12-09
  2 in total

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