Literature DB >> 22924337

Squamous cell carcinoma in a child with Clericuzio-type poikiloderma with neutropenia.

W Rodgers, P Ancliff, C P Ponting, L Sanchez-Pulido, S Burns, M Hayman, V Kimonis, N Sebire, N Bulstrode, J I Harper.   

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Year:  2012        PMID： 22924337     DOI： 10.1111/bjd.12016

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  7 in total

1.  Incomplete splicing of neutrophil-specific genes affects neutrophil development in a zebrafish model of poikiloderma with neutropenia.

Authors:  Prakash Patil; Tamayo Uechi; Naoya Kenmochi
Journal:  RNA Biol       Date:  2015       Impact factor: 4.652

2.  Clinical utility gene card for: poikiloderma with neutropenia.

Authors:  Lidia Larizza; Gloria Negri; Elisa Adele Colombo; Ludovica Volpi; Yves Sznajer
Journal:  Eur J Hum Genet       Date:  2013-01-16       Impact factor: 4.246

3.  Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants.

Authors:  Elisa A Colombo; Nursel H Elcioglu; Claudio Graziano; Pamela Farinelli; Elisabetta Di Fede; Iria Neri; Elena Facchini; Mariangela Greco; Cristina Gervasini; Lidia Larizza
Journal:  J Clin Immunol       Date:  2018-05-16       Impact factor: 8.317

4.  The Role of Genetic Testing in Hereditary Poikiloderma: A Case Report.

Authors:  Sarah El-Heis; Keith M Godfrey
Journal:  Glob Pediatr Health       Date:  2017-06-28

5.  Poikiloderma with neutropenia: An alternate presentation with dyspigmentation and novel USB1 mutation.

Authors:  Malina Yamashita Peterson; Brooke Hanson; Ingrid Polcari
Journal:  Pediatr Dermatol       Date:  2022-05-06       Impact factor: 1.997

6.  Poikiloderma With Neutropenia and Mastocytosis: A Case Report and a Review of Dermatological Signs.

Authors:  Vincenzo Piccolo; Teresa Russo; Daniela Di Pinto; Elvira Pota; Martina Di Martino; Giulio Piluso; Andrea Ronchi; Giuseppe Argenziano; Eugenia Veronica Di Brizzi; Claudia Santoro
Journal:  Front Med (Lausanne)       Date:  2021-06-10

7.  A zebrafish model of Poikiloderma with Neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor.

Authors:  Elisa A Colombo; Silvia Carra; Laura Fontana; Erica Bresciani; Franco Cotelli; Lidia Larizza
Journal:  Sci Rep       Date:  2015-11-02       Impact factor: 4.379
  7 in total

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