NF1 microdeletion breakpoints are clustered at flanking repetitive sequences.
about
Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletionsEvidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion intervalHigh frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 geneMolecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions.Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literatureNF1 mutations and molecular testingLocalization of the 17q breakpoint of a constitutional 1;17 translocation in a patient with neuroblastoma within a 25-kb segment located between the ACCN1 and TLK2 genes and near the distal breakpoints of two microdeletions in neurofibromatosis typeMales with familial idiopathic scoliosis: a distinct phenotypic subgroupMitotic recombination and compound-heterozygous mutations are predominant NF1-inactivating mechanisms in children with juvenile myelomonocytic leukemia and neurofibromatosis type 1.From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.Elevated risk for MPNST in NF1 microdeletion patients.High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysisHuman-specific duplication and mosaic transcripts: the recent paralogous structure of chromosome 22.Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.Unequal meiotic crossover: a frequent cause of NF1 microdeletions.Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanismsSVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints.Positive regulation of apoptosis by HCA66, a new Apaf-1 interacting protein, and its putative role in the physiopathology of NF1 microdeletion syndrome patients.Validity and interexaminer reliability of a new method to quantify skin neurofibromas of neurofibromatosis 1 using paper framesGenome destabilization by homologous recombination in the germ lineGenetics of neurofibromatosis 1 and the NF1 gene.Clinical features and pathobiology of neurofibromatosis 1.An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.Genetics of neurofibromatosis 1-associated peripheral nerve sheath tumors.The genetics of microdeletion and microduplication syndromes: an update.Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromasInterstitial uniparental isodisomy at clustered breakpoint intervals is a frequent mechanism of NF1 inactivation in myeloid malignanciesGenomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits.Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombinationIdentification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH.Pathogenesis of plexiform neurofibroma: tumor-stromal/hematopoietic interactions in tumor progression.Evaluation of the X-linked high-grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies.Emerging genotype-phenotype relationships in patients with large NF1 deletions.An emerging role for microRNAs in NF1 tumorigenesis.Identification of genes potentially involved in the increased risk of malignancy in NF1-microdeleted patients.An isochore transition in the NF1 gene region coincides with a switch in the extent of linkage disequilibrium.Palindromic AT-rich repeat in the NF1 gene is hypervariable in humans and evolutionarily conserved in primates.A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features.An Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion.
P2860
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P2860
NF1 microdeletion breakpoints are clustered at flanking repetitive sequences.
description
2000 nî lūn-bûn
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2000年の論文
@ja
2000年学术文章
@wuu
2000年学术文章
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2000年学术文章
@zh-cn
2000年学术文章
@zh-hans
2000年学术文章
@zh-my
2000年学术文章
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2000年學術文章
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2000年學術文章
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name
NF1 microdeletion breakpoints are clustered at flanking repetitive sequences.
@en
NF1 microdeletion breakpoints are clustered at flanking repetitive sequences.
@nl
type
label
NF1 microdeletion breakpoints are clustered at flanking repetitive sequences.
@en
NF1 microdeletion breakpoints are clustered at flanking repetitive sequences.
@nl
prefLabel
NF1 microdeletion breakpoints are clustered at flanking repetitive sequences.
@en
NF1 microdeletion breakpoints are clustered at flanking repetitive sequences.
@nl
P2093
P356
P1476
NF1 microdeletion breakpoints are clustered at flanking repetitive sequences.
@en
P2093
Dorschner MO
Pletcher BA
Stephens K
P356
10.1093/HMG/9.1.35
P577
2000-01-01T00:00:00Z