Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.
about
Modeling congenital disease and inborn errors of development in Drosophila melanogasterFunctional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain CalcificationTruncating mutations in the last exon of NOTCH3 cause lateral meningocele syndromeA Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes.Genetic screening and functional characterization of PDGFRB mutations associated with basal ganglia calcification of unknown etiologyInsights into Autoregulation of Notch3 from Structural and Functional Studies of Its Negative Regulatory RegionA Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.Case report: rapid and durable response to PDGFR targeted therapy in a child with refractory multiple infantile myofibromatosis and a heterozygous germline mutation of the PDGFRB gene.Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects.Therapeutic modulation of Notch signalling--are we there yet?Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.PDGF, pericytes and the pathogenesis of idiopathic basal ganglia calcification (IBGC).The genetics of primary familial brain calcifications.Cancer genomics: why rare is valuable.The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders.Pathogenetic significance and possibility as a therapeutic target of platelet derived growth factor.PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis.Idiopathic basal ganglia calcification-associated PDGFRB mutations impair the receptor signalling.Notch Signaling in Vascular Smooth Muscle Cells.Biological functions of fucose in mammals.Clinical and radiological diversity in genetically confirmed primary familial brain calcification.Primary familial brain calcification: update on molecular genetics.STAT1 modulates tissue wasting or overgrowth downstream from PDGFRβ.PDGFRB mutants found in patients with familial infantile myofibromatosis or overgrowth syndrome are oncogenic and sensitive to imatinib.Notch Signaling in Development, Tissue Homeostasis, and Disease.A case of advanced infantile myofibromatosis harboring a novel MYH10-RET fusion.Infantile myofibromatosis.Recurrent SRF-RELA Fusions Define a Novel Subset of Cellular Myofibroma/Myopericytoma: A Potential Diagnostic Pitfall With Sarcomas With Myogenic Differentiation.Myopericytoma/myopericytomatosis of the lower extremity in two young patients: a recently designated rare soft tissue neoplasm.Expansion of the phenotype of Kosaki overgrowth syndrome.Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology.Paediatric and adult soft tissue sarcomas with NTRK1 gene fusions: a subset of spindle cell sarcomas unified by a prominent myopericytic/haemangiopericytic pattern.Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing.Primary brain calcification: an international study reporting novel variants and associated phenotypesEffects of Sunitinib and Other Kinase Inhibitors on Cells Harboring a Mutation Associated with Infantile Myofibromatosis
P2860
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P2860
Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.
@en
type
label
Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.
@en
prefLabel
Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.
@en
P2093
P2860
P1476
Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.
@en
P2093
Audrey M Bernstein
Ben Tweddale
Brendan Keating
Carrie Zabel
Cecilia E Kim
Cuiping Hou
Cyril Morisot
David B Everman
Denise Metry
Dina J Zand
P2860
P304
P356
10.1016/J.AJHG.2013.04.024
P407
P577
2013-05-23T00:00:00Z