Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2. - sprookjes - yvandenbroek - TriplyDB

Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.

Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.

http://www.wikidata.org/entity/Q34353994

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Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes Evolution and functional divergence of NLRP genes in mammalian reproductive systems Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype Insights into epigenetic landscape of recombination-free regions Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum Segmental duplications and copy-number variation in the human genome.Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates Smith-Magenis syndrome Toward accurate high-throughput SNP genotyping in the presence of inherited copy number variation.Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion.Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution.Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease.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.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 Genome-wide association study identifies a maternal copy-number deletion in PSG11 enriched among preeclampsia patients.High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?The phenotype of recurrent 10q22q23 deletions and duplications.Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over.Processes of de novo duplication of human alpha-globin genes.Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits.Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies Chromosomal phenotypes and submicroscopic abnormalities Behavioral disturbance and treatment strategies in Smith-Magenis syndrome Diagnostics of common microdeletion syndromes using fluorescence in situ hybridization: single center experience in a developing country Mechanisms for human genomic rearrangements Genomic disorders ten years on.Serial segmental duplications during primate evolution result in complex human genome architecture.Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region.Copy number variation at the breakpoint region of isochromosome 17q.Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome.Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)].Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation.Epilepsy and chromosomal rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)].Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications.

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P2860

Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.

http://www.wikidata.org/entity/Q34353994

description

2002 nî lūn-bûn

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2002 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

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2002 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2002年の論文

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2002年学术文章

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2002年学术文章

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2002年学术文章

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2002年学术文章

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2002年学术文章

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2002年學術文章

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name

Genetic proof of unequal meiot ...... on and duplication of 17p11.2.

@ast

Genetic proof of unequal meiot ...... on and duplication of 17p11.2.

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Genetic proof of unequal meiot ...... on and duplication of 17p11.2.

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type

label

Genetic proof of unequal meiot ...... on and duplication of 17p11.2.

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Genetic proof of unequal meiot ...... on and duplication of 17p11.2.

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Genetic proof of unequal meiot ...... on and duplication of 17p11.2.

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prefLabel

Genetic proof of unequal meiot ...... on and duplication of 17p11.2.

@ast

Genetic proof of unequal meiot ...... on and duplication of 17p11.2.

@en

Genetic proof of unequal meiot ...... on and duplication of 17p11.2.

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American Journal of Human Genetics

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Genetic proof of unequal meiot ...... on and duplication of 17p11.2.

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P2093

Christine J Shaw

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James R Lupski

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Weimin Bi

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P2860

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

The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2

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

Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth

A common molecular basis for rearrangement disorders on chromosome 22q11

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

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

Interstitial deletion of (17)(p11.2p11.2) in nine patients

Genome architecture, rearrangements and genomic disorders

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

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1072-1081

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