Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia
about
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancyHereditary Predispositions to Myelodysplastic SyndromeEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseIdentifying disease mutations in genomic medicine settings: current challenges and how to accelerate progressStructures of human SRP72 complexes provide insights into SRP RNA remodeling and ribosome interactionGenomic characterization of the inherited bone marrow failure syndromes.Genetic predisposition syndromes: when should they be considered in the work-up of MDS?Genetic predisposition to myelodysplastic syndrome and acute myeloid leukemia in children and young adults.Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia.Recognizing familial myeloid leukemia in adults.Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia.Applications of high-throughput DNA sequencing to benign hematologyFamilial myelodysplastic syndrome/acute leukemia syndromes: a review and utility for translational investigationsExome sequencing greatly expedites the progressive research of Mendelian diseases.Genetic predisposition to hematologic malignancies: management and surveillance.Myelodysplastic syndromes and acute leukemia with genetic predispositions: a new challenge for hematologists.Aplastic anemia and clonal evolution: germ line and somatic genetics.Germline Genetic Predisposition to Hematologic Malignancy.Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.RNA gymnastics in mammalian signal recognition particle assembly.The genomic landscape of pediatric myelodysplastic syndromes.Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.Familial Acute Myeloid Leukemia and Myelodysplasia in Hungary.Human apo-SRP72 and SRP68/72 complex structures reveal the molecular basis of protein translocation.Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology.How I diagnose and manage individuals at risk for inherited myeloid malignancies.SRP54 and a need for a new neutropenia nosology
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P2860
Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia
description
2012 nî lūn-bûn
@nan
2012 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Exome sequencing identifies au ...... ial aplasia and myelodysplasia
@ast
Exome sequencing identifies au ...... ial aplasia and myelodysplasia
@en
Exome sequencing identifies au ...... ial aplasia and myelodysplasia
@en-gb
Exome sequencing identifies au ...... ial aplasia and myelodysplasia
@nl
type
label
Exome sequencing identifies au ...... ial aplasia and myelodysplasia
@ast
Exome sequencing identifies au ...... ial aplasia and myelodysplasia
@en
Exome sequencing identifies au ...... ial aplasia and myelodysplasia
@en-gb
Exome sequencing identifies au ...... ial aplasia and myelodysplasia
@nl
prefLabel
Exome sequencing identifies au ...... ial aplasia and myelodysplasia
@ast
Exome sequencing identifies au ...... ial aplasia and myelodysplasia
@en
Exome sequencing identifies au ...... ial aplasia and myelodysplasia
@en-gb
Exome sequencing identifies au ...... ial aplasia and myelodysplasia
@nl
P2093
P2860
P3181
P1476
Exome sequencing identifies au ...... ial aplasia and myelodysplasia
@en
P2093
Aloysius Ho
Amanda J Walne
Inderjeet Dokal
Mark Velangi
Michael Kirwan
Tom Vulliamy
Upal Hossain
P2860
P304
P3181
P356
10.1016/J.AJHG.2012.03.020
P407
P577
2012-05-04T00:00:00Z