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

The molecular basis and clinical significance of genetic mutations identified in myelodysplastic syndromes

(2015) Ling Zhang et al.   LEUKEMIA RESEARCH

Poikiloderma with neutropenia: Genotype-ethnic origin correlation, expanding phenotype and literature review

(2014) Asuman Koparir et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of theEP300gene

(2014) G. Negri et al.   CLINICAL GENETICS

Myelodysplastic syndromes

(2014) Lionel Adès et al.   LANCET

The molecular basis of myeloid malignancies

(2014) Toshio KITAMURA et al.   PROCEEDINGS OF THE JAPAN ACADEMY SERIES B-PHYSICAL AND BIOLOGICAL SCIENCES

The importance of subclonal genetic events in MDS

(2013) R. Bejar et al.   BLOOD

Cytogenetic Nomenclature: Changes in the ISCN 2013 Compared to the 2009 Edition

(2013) A. Simons et al.   CYTOGENETIC AND GENOME RESEARCH

Clinical utility gene card for: poikiloderma with neutropenia

(2013) Lidia Larizza et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Poikiloderma With Neutropenia

(2013) Piero Farruggia et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

SALIVARY NEUTROPHILS LEVEL AS AN INDICATOR OF BONE MARROW ENGRAFTMENT

(2012) Richard Pink et al.   BIOMEDICAL PAPERS-OLOMOUC

Mutations affecting mRNA splicing define distinct clinical phenotypes and correlate with patient outcome in myelodysplastic syndromes

(2012) F. Damm et al.   BLOOD

Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia

(2012) C. Hilcenko et al.   BLOOD

World Health Organization Classification of Myelodysplastic Syndromes

(2012) Magdalena Czader et al.   CURRENT PHARMACEUTICAL DESIGN

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

(2012) S. Mroczek et al.   GENES & DEVELOPMENT

Molecular genetics in myelodysplastic syndromes

(2012) Torsten Haferlach   LEUKEMIA RESEARCH

Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations

(2012) Elisa A Colombo et al.   Orphanet Journal of Rare Diseases

Mpn1, Mutated in Poikiloderma with Neutropenia Protein 1, Is a Conserved 3′-to-5′ RNA Exonuclease Processing U6 Small Nuclear RNA

(2012) Vadim Shchepachev et al.   Cell Reports

Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms

(2011) L. Malcovati et al.   BLOOD

Systematic search for neutropenia should be part of the first screening in patients with poikiloderma

(2011) Juliette Piard et al.   European Journal of Medical Genetics

Unraveling the Molecular Pathophysiology of Myelodysplastic Syndromes

(2011) Rafael Bejar et al.   JOURNAL OF CLINICAL ONCOLOGY

Frequent pathway mutations of splicing machinery in myelodysplasia

(2011) Kenichi Yoshida et al.   NATURE

Spliceosome mutations in hematopoietic malignancies

(2011) Christopher N Hahn et al.   NATURE GENETICS

SomaticSF3B1Mutation in Myelodysplasia with Ring Sideroblasts

(2011) E. Papaemmanuil et al.   NEW ENGLAND JOURNAL OF MEDICINE

Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia

(2010) Carol Clericuzio et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: Delineation of the phenotype

(2010) D. Concolino et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria

(2010) A.W. Arnold et al.   BRITISH JOURNAL OF DERMATOLOGY

The molecular pathogenesis of myelodysplastic syndromes

(2010) Matthew S. Davids et al.   CANCER BIOLOGY & THERAPY

Nomenclature Evolution: Changes in the ISCN from the 2005 to the 2009 Edition

(2010) A.R. Brothman et al.   CYTOGENETIC AND GENOME RESEARCH

Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome

(2010) Amanda J. Walne et al.   HUMAN MOLECULAR GENETICS

Diagnosing myelodysplastic/myeloproliferative neoplasms: laboratory testing strategies to exclude other disorders

(2010) J. HALL et al.   International Journal of Laboratory Hematology

Myelodysplastic/Myeloproliferative Neoplasms

(2009) Kathryn Foucar   AMERICAN JOURNAL OF CLINICAL PATHOLOGY

Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

(2009) Ludovica Volpi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco

(2008) Rahima Mostefai et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A