Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS - sprookjes - yvandenbroek - TriplyDB

Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS

Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS

http://www.wikidata.org/entity/Q33708568

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Mechanisms underlying structural variant formation in genomic disorders Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men Structural variation mutagenesis of the human genome: Impact on disease and evolution.Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski Syndromes PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations Breakpoint profiling of 64 cancer genomes reveals numerous complex rearrangements spawned by homology-independent mechanisms.Characterizing complex structural variation in germline and somatic genomes Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic Behavior RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome.Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive.Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms.Detection of clinically relevant exonic copy-number changes by array CGH.Structural variation of the human genome: mechanisms, assays, and role in male infertility Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over.Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.Mechanisms for recurrent and complex human genomic rearrangements.New Genetic Insights into Congenital Heart Disease.Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki-Lupski syndrome diagnosis.Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.Evidence for genetic regulation of mRNA expression of the dosage-sensitive gene retinoic acid induced-1 (RAI1) in human brain Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome.Array-based molecular karyotyping in fetuses with isolated brain malformations identifies disease-causing CNVs Cardiovascular findings in duplication 17p11.2 syndrome.Replicative mechanisms for CNV formation are error prone.Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis.Yin-yang actions of histone methylation regulatory complexes in the brain.Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA.Molecular and Neural Functions of Rai1, the Causal Gene for Smith-Magenis Syndrome.Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome.Pentapeptide sharing between Corynebacterium diphtheria toxin and the human neural protein network.Dissecting the structure and mechanism of a complex duplication-triplication rearrangement in the DMD gene.The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison.Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele.Mitochondrial dysfunction and autism: comprehensive genetic analyses of children with autism and mtDNA deletion.A New Patient with Potocki-Lupski Syndrome: A Literature Review.Stress and well-being among parents of children with Potocki-Lupski syndrome.

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Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS

http://www.wikidata.org/entity/Q33708568

description

2010 nî lūn-bûn

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2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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2010 թվականի փետրվարին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

Identification of uncommon rec ...... t types and mechanisms in PTLS

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Identification of uncommon rec ...... t types and mechanisms in PTLS

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Identification of uncommon rec ...... t types and mechanisms in PTLS

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Identification of uncommon rec ...... t types and mechanisms in PTLS

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Identification of uncommon rec ...... t types and mechanisms in PTLS

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Identification of uncommon rec ...... t types and mechanisms in PTLS

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American Journal of Human Genetics

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Identification of uncommon rec ...... t types and mechanisms in PTLS

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Alicia Delicado Navarro

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Amarilis Sanchez-Valle

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Campbell K Brasington

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J Edward Spence

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Jacinda B Sampson

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James R Lupski

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Lorraine Potocki

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Marjorie A Withers

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Patricia G Wheeler

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Patricia Robbins-Furman

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P2860

Mechanisms of change in gene copy number

Prdm9 controls activation of mammalian recombination hotspots

Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse

Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2).

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

Hotspots of homologous recombination in the human genome: not all homologous sequences are equal

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

The mechanism of human nonhomologous DNA end joining

Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

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