A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. - Wikidata - wikimedia - TriplyDB

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.

http://www.wikidata.org/entity/Q36627230

about

Finding the missing heritability of complex diseases Genetics of bipolar disorder Rare chromosomal deletions and duplications increase risk of schizophrenia Diversity of human copy number variation and multicopy genes Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy Large, rare chromosomal deletions associated with severe early-onset obesity Clinical and molecular delineation of the 17q21.31 microdeletion syndrome Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation CNV and nervous system diseases--what's new?Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities Copy number variation and schizophrenia Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice Genetic variation and the de novo assembly of human genomes Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns A genetic model for neurodevelopmental disease Of mice and men: molecular genetics of congenital heart disease Major influence of repetitive elements on disease-associated copy number variants (CNVs)CNVs in neuropsychiatric disorders Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?Pharmacological Characterisation of Nicotinic Acetylcholine Receptors Expressed in Human iPSC-Derived Neurons De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s The role of genetics in the etiology of schizophrenia Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size Chrna7 deficient mice manifest no consistent neuropsychiatric and behavioral phenotypes.SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay.DupMasker: a tool for annotating primate segmental duplications Genomic structural variation in psychiatric disorders.Genetic variation stimulated by epigenetic modification.Molecular cytogenetics and cytogenomics of brain diseases.Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.Autism genetics: emerging data from genome-wide copy-number and single nucleotide polymorphism scans.Accurate distinction of pathogenic from benign CNVs in mental retardation.Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence.Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies A large replication study and meta-analysis in European samples provides further support for association of AHI1 markers with schizophrenia.

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P2860

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.

http://www.wikidata.org/entity/Q36627230

description

2008 nî lūn-bûn

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2008年の論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年论文

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2008年论文

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2008年论文

@zh-cn

name

A recurrent 15q13.3 microdelet ...... ntal retardation and seizures.

@ast

A recurrent 15q13.3 microdelet ...... ntal retardation and seizures.

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type

label

A recurrent 15q13.3 microdelet ...... ntal retardation and seizures.

@ast

A recurrent 15q13.3 microdelet ...... ntal retardation and seizures.

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prefLabel

A recurrent 15q13.3 microdelet ...... ntal retardation and seizures.

@ast

A recurrent 15q13.3 microdelet ...... ntal retardation and seizures.

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P1433

Nature Genetics

P1476

A recurrent 15q13.3 microdelet ...... ntal retardation and seizures.

@en

P2093

Adam Broomer

http://www.w3.org/2001/XMLSchema#string

Andrew J Sharp

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Bernardo Dalla Bernardina

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Caifu Chen

http://www.w3.org/2001/XMLSchema#string

Carl Baker

http://www.w3.org/2001/XMLSchema#string

Catalin Barbacioru

http://www.w3.org/2001/XMLSchema#string

Charles E Schwartz

http://www.w3.org/2001/XMLSchema#string

Chunlin Xiao

http://www.w3.org/2001/XMLSchema#string

Cindy Skinner

http://www.w3.org/2001/XMLSchema#string

Claudia Torniero

http://www.w3.org/2001/XMLSchema#string

P2860

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

Detection of large-scale variation in the human genome

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

Large-scale copy number polymorphism in the human genome

Analysis of the DNA sequence and duplication history of human chromosome 15

Mice deficient in the alpha7 neuronal nicotinic acetylcholine receptor lack alpha-bungarotoxin binding sites and hippocampal fast nicotinic currents

Genome architecture, rearrangements and genomic disorders

Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage

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322-328

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scholarly article

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10.1038/NG.93

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P433

3

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40

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Manuela De Gregori

Lucia Castiglia

Francesca Novara

Orsetta Zuffardi

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2008-02-17T00:00:00Z

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5574130

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18278044

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2365467

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