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

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

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

http://www.wikidata.org/entity/Q28141491

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Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes Microduplication and triplication of 22q11.2: a highly variable syndrome.Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients COP9 signalosome-specific phosphorylation targets p53 to degradation by the ubiquitin system CNV and nervous system diseases--what's new?DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage 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 Gene conversion homogenizes the CMT1A paralogous repeats Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns The impact of human copy number variation on gene expression Mapping autism risk loci using genetic linkage and chromosomal rearrangements.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 Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26.PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution.Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation.Genome architecture catalyzes nonrecurrent chromosomal rearrangements Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome.Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease.The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeats The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture.Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2.Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting.Mild phenotype due to tandem duplication of l7p11.2.Opposite effects on facial morphology due to gene dosage sensitivity Genetic basis of congenital cardiovascular malformations Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic Behavior An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review.Phenotypic impact of genomic structural variation: insights from and for human disease.A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion.

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P2860

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

http://www.wikidata.org/entity/Q28141491

description

2000 nî lūn-bûn

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2000 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2000 թվականի հունվարին հրատարակված գիտական հոդված

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2000年の論文

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2000年論文

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2000年論文

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2000年論文

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2000年論文

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Molecular mechanism for duplic ...... he Smith-Magenis microdeletion

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Molecular mechanism for duplic ...... he Smith-Magenis microdeletion

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Molecular mechanism for duplic ...... he Smith-Magenis microdeletion

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Molecular mechanism for duplic ...... he Smith-Magenis microdeletion

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Molecular mechanism for duplic ...... he Smith-Magenis microdeletion

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Molecular mechanism for duplic ...... he Smith-Magenis microdeletion

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Nature Genetics

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Molecular mechanism for duplic ...... he Smith-Magenis microdeletion

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A M Summers

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C D Kashork

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D E Osterholm

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J R Lupski

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K S Chen

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L G Shaffer

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L Potocki

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M A Withers

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S S Park

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V Kimonis

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P2860

Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

A common molecular basis for rearrangement disorders on chromosome 22q11

A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

Cloning, genomic structure, and expression of mouse ring finger protein gene Znf179.

Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p.

DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome

Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome.

PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7.

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10.1038/71743

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1

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24

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Kwame Anyane-Yeboa

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