Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome.
about
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypesA deoxyribonucleotidase in mitochondria: involvement in regulation of dNTP pools and possible link to genetic diseaseCoactosin-like protein, a human F-actin-binding protein: critical role of lysine-75High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 geneFliih, a gelsolin-related cytoskeletal regulator essential for early mammalian embryonic developmentCharacterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis.Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.Structure of the highly conserved HERC2 gene and of multiple partially duplicated paralogs in humanDNA sequence of human chromosome 17 and analysis of rearrangement in the human lineageInteraction of 5-lipoxygenase with cellular proteinsGenes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouseCharacterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotypeBreakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletionsPhenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse modelsStructural variation mutagenesis of the human genome: Impact on disease and evolution.Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski SyndromesEngineering mouse chromosomes with Cre-loxP: range, efficiency, and somatic applicationsMolecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletionGenotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrumUncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substratesSmith-Magenis syndromeA novel RING finger protein, Znf179, modulates cell cycle exit and neuronal differentiation of P19 embryonal carcinoma cellsCOP9 signalosome subunit 3 is essential for maintenance of cell proliferation in the mouse embryonic epiblastPenetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alikeAdditional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26.The role of copy number variation in susceptibility to amyotrophic lateral sclerosis: genome-wide association study and comparison with published loci.Charcot-Marie-Tooth disease: lessons in genetic mechanisms.Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidusCharcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity.Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis SyndromeGenome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome.Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLSMolecular and clinical characterization of a patient with duplication of 1p36.3 and metopic synostosis.Molecular mechanisms for CMT1A duplication and HNPP deletion.Single-nucleotide polymorphism array-based karyotyping of acute promyelocytic leukemia.From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution.The genomic structure of the DMBT1 gene: evidence for a region with susceptibility to genomic instability.Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease.Genome architecture catalyzes nonrecurrent chromosomal rearrangements
P2860
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P2860
Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome.
description
1997 nî lūn-bûn
@nan
1997 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Homologous recombination of a ...... iguous gene deletion syndrome.
@ast
Homologous recombination of a ...... iguous gene deletion syndrome.
@en
Homologous recombination of a ...... iguous gene deletion syndrome.
@nl
type
label
Homologous recombination of a ...... iguous gene deletion syndrome.
@ast
Homologous recombination of a ...... iguous gene deletion syndrome.
@en
Homologous recombination of a ...... iguous gene deletion syndrome.
@nl
prefLabel
Homologous recombination of a ...... iguous gene deletion syndrome.
@ast
Homologous recombination of a ...... iguous gene deletion syndrome.
@en
Homologous recombination of a ...... iguous gene deletion syndrome.
@nl
P2093
P2860
P356
P1433
P1476
Homologous recombination of a ...... iguous gene deletion syndrome.
@en
P2093
Chinault AC
P2860
P2888
P304
P356
10.1038/NG1097-154
P407
P577
1997-10-01T00:00:00Z
P6179
1001062922