Literature DB >> 28423152

Multiple Facial Trichoepitheliomas and Vulval Cysts: Extending the Phenotypic Spectrum in CYLD Cutaneous Syndrome.

Anna Dubois1, Angel Alonso-Sanchez2, Vrinda Bajaj3, Akhtar Husain4, Neil Rajan1,5.   

Abstract

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Year:  2017        PMID： 28423152      PMCID： PMC5817598          DOI： 10.1001/jamadermatol.2017.0321

Source DB:  PubMed          Journal:  JAMA Dermatol        ISSN： 2168-6068            Impact factor:   10.282


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  6 in total

1.  Brooke-Spiegler syndrome: report of 10 patients from 8 families with novel germline mutations: evidence of diverse somatic mutations in the same patient regardless of tumor type.

Authors:  Radek Sima; Tomas Vanecek; Denisa Kacerovska; Pavel Trubac; Bernard Cribier; Arno Rutten; Marina Vazmitel; Dominic V Spagnolo; Radek Litvik; Yvetta Vantuchova; Wolfgang Weyers; Robert L Pearce; John Pearn; Michal Michal; Dmitry V Kazakov
Journal:  Diagn Mol Pathol       Date:  2010-06

Review 2.  Phenotype-genotype correlations for clinical variants caused by CYLD mutations.

Authors:  Nikoletta Nagy; Katalin Farkas; Lajos Kemény; Márta Széll
Journal:  Eur J Med Genet       Date:  2015-03-14       Impact factor: 2.708

Review 3.  Inherited cylindromas: lessons from a rare tumour.

Authors:  Neil Rajan; Alan Ashworth
Journal:  Lancet Oncol       Date:  2015-09       Impact factor: 41.316

4.  Novel and recurrent germline and somatic mutations in a cohort of 67 patients from 48 families with Brooke-Spiegler syndrome including the phenotypic variant of multiple familial trichoepitheliomas and correlation with the histopathologic findings in 379 biopsy specimens.

Authors:  Petr Grossmann; Tomas Vanecek; Petr Steiner; Denisa Kacerovska; Dominic V Spagnolo; Bernard Cribier; Christian Rose; Marina Vazmitel; J Andrew Carlson; Michael Emberger; Petr Martinek; Robert L Pearce; John Pearn; Michal Michal; Dmitry V Kazakov
Journal:  Am J Dermatopathol       Date:  2013-02       Impact factor: 1.533

5.  CYLD mutations in familial skin appendage tumours.

Authors:  S Saggar; K A Chernoff; S Lodha; L Horev; S Kohl; R S Honjo; H R C Brandt; K Hartmann; J T Celebi
Journal:  J Med Genet       Date:  2008-01-30       Impact factor: 6.318

6.  Tumor mapping in 2 large multigenerational families with CYLD mutations: implications for disease management and tumor induction.

Authors:  Neil Rajan; James A A Langtry; Alan Ashworth; Catherine Roberts; Pam Chapman; John Burn; Alison H Trainer
Journal:  Arch Dermatol       Date:  2009-11
  6 in total
  2 in total

Review 1.  Pathogenesis of Choledochal Cyst: Insights from Genomics and Transcriptomics.

Authors:  Yongqin Ye; Vincent Chi Hang Lui; Paul Kwong Hang Tam
Journal:  Genes (Basel)       Date:  2022-06-08       Impact factor: 4.141

2.  Gynaecological cylindroma in association with CYLD gene mutation.

Authors:  Emma Khoury; Michelle Godfrey; Chit Cheng Yeoh
Journal:  Oxf Med Case Reports       Date:  2022-01-24
  2 in total

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