Poikiloderma with Neutropenia

2021 ◽  
pp. 1-5
Author(s):  
Elisa Adele Colombo ◽  
Lidia Larizza
Keyword(s):  
Poikiloderma With Neutropenia

Clericuzio‐type poikiloderma with neutropenia in a patient from India

2020 ◽  
Vol 185 (1) ◽  
pp. 278-281
Author(s):  
Anuradha Bishnoi ◽  
Manu Jamwal ◽  
Reena Das ◽  
Vinod Scaria ◽  
Vikarn Vishwajeet ◽  
...  
Keyword(s):  
Poikiloderma With Neutropenia

scholarly journals C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification

2012 ◽  
Vol 26 (17) ◽  
pp. 1911-1925 ◽  
Author(s):  
S. Mroczek ◽  
J. Krwawicz ◽  
J. Kutner ◽  
M. Lazniewski ◽  
I. Kucinski ◽  
...  
Keyword(s):  
U6 Snrna ◽  
Poikiloderma With Neutropenia

scholarly journals Generation of poikiloderma with neutropenia (PN) induced pluripotent stem cells (iPSCs)

2015 ◽  
Vol 15 (3) ◽  
pp. 595-597 ◽  
Author(s):  
Jason A. Mills ◽  
Kristin M. Hudock ◽  
Spencer K. Sullivan ◽  
Pamela Herrera ◽  
Lisa M. Sullivan ◽  
...  
Keyword(s):  
Stem Cells ◽  
Induced Pluripotent Stem Cells ◽  
Pluripotent Stem Cells ◽  
Poikiloderma With Neutropenia ◽  
Induced Pluripotent

When Rothmund–Thomson syndrome is not: two new cases of Clericuzio-type poikiloderma with neutropenia

2020 ◽  
Vol 30 (1) ◽  
pp. 50-53
Author(s):  
Shereen Tadros ◽  
Karina Forde ◽  
Samira Syed ◽  
Karolina Gholam ◽  
Jane Hurst
Keyword(s):  
Rothmund Thomson Syndrome ◽  
Poikiloderma With Neutropenia

Poikiloderma with Neutropenia

2020 ◽  
pp. 1-5
Author(s):  
Elisa Adele Colombo ◽  
Lidia Larizza
Keyword(s):  
Poikiloderma With Neutropenia

Poikiloderma with neutropenia and associated squamous cell carcinoma: A case report

2018 ◽  
Vol 35 (6) ◽  
pp. e366-e367
Author(s):  
Daniel P. Hertel ◽  
Tasneem F. Mohammad ◽  
Tor A. Shwayder
Keyword(s):  
Squamous Cell Carcinoma ◽  
Case Report ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Poikiloderma With Neutropenia

Poikiloderma with neutropenia: beginning at the end

Blood ◽  
2013 ◽  
Vol 121 (6) ◽  
pp. 872-874 ◽  
Author(s):  
Philip J. Mason ◽  
Monica Bessler
Keyword(s):  
Poikiloderma With Neutropenia

Expanding the role of the splicingUSB1gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms

2015 ◽  
Vol 171 (4) ◽  
pp. 557-565 ◽  
Author(s):  
Gloria Negri ◽  
Barbara Crescenzi ◽  
Elisa Adele Colombo ◽  
Laura Fontana ◽  
Gianluca Barba ◽  
...  
Keyword(s):  
Myeloid Neoplasms ◽  
Poikiloderma With Neutropenia
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