Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays. - Wikidata - awgldk - TriplyDB

Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.

Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.

http://www.wikidata.org/entity/Q36141110

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Mechanisms underlying structural variant formation in genomic disorders Adult expression of a 3q13.31 microdeletion.Developmental and adult GAP-43 deficiency in mice dynamically alters hippocampal neurogenesis and mossy fiber volume Friends-Enemies: Endogenous Retroviruses Are Major Transcriptional Regulators of Human DNA Boc modifies the spectrum of holoprosencephaly in the absence of Gas1 function Recurrent 8q13.2-13.3 microdeletions associated with branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks Refining analyses of copy number variation identifies specific genes associated with developmental delay Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination.Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.Genome architecture and its roles in human copy number variation.Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis.Gene Deletion in Barley Mediated by LTR-retrotransposon BARE.Contrasting mechanisms of de novo copy number mutagenesis suggest the existence of different classes of environmental copy number mutagens.The role of human endogenous retroviruses in brain development and function.Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies.Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes.A Chinese patient with Toriello-Carey syndrome and an interstitial deletion of 3q.Female patient with autistic disorder, intellectual disability, and co-morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2-q13.31 microdeletion

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Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.

http://www.wikidata.org/entity/Q36141110

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2013年學術文章

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Recurrent HERV-H-mediated 3q13 ...... anguage, and cognitive delays.

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Recurrent HERV-H-mediated 3q13 ...... anguage, and cognitive delays.

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Recurrent HERV-H-mediated 3q13 ...... anguage, and cognitive delays.

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Recurrent HERV-H-mediated 3q13 ...... anguage, and cognitive delays.

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Andrey Shuvarikov

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Ankita Patel

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Billur Moghaddam

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Chester W Brown

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Christine Moore

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Christine R Beck

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Deborah Terespolsky

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J Britt Ravnan

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P2860

Initial sequencing and analysis of the human genome

Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome

HERVd: the Human Endogenous RetroViruses Database: update

Rare chromosomal deletions and duplications increase risk of schizophrenia

BOC, an Ig superfamily member, associates with CDO to positively regulate myogenic differentiation

Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits

Enhanced learning after genetic overexpression of a brain growth protein

Growth-associated protein-43 is required for commissural axon guidance in the developing vertebrate nervous system

A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum

Segmental duplications and copy-number variation in the human genome.

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34

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