Clinical and molecular delineation of the 17q21.31 microdeletion syndrome - Test2 - elhamkhani - TriplyDB

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

http://www.wikidata.org/entity/Q24624737

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Human genome sequencing in health and disease Cutaneous features in 17q21.31 deletion syndrome: a differential diagnosis for cardio-facio-cutaneous syndrome CNV and nervous system diseases--what's new?Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotype Cytogenomic Aberrations in Congenital Cardiovascular Malformations Of mice and men: molecular genetics of congenital heart disease New insights into the generation and role of de novo mutations in health and disease Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay.Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation.Genomics, intellectual disability, and autism The genetic variability and commonality of neurodevelopmental disease.Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies.Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex.The phenotype of recurrent 10q22q23 deletions and duplications.Phenotype mining in CNV carriers from a population cohort.On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.The genetics of microdeletion and microduplication syndromes: an update.Phenotypic information in genomic variant databases enhances clinical care and research: the International Standards for Cytogenomic Arrays Consortium experience.Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism.Structural diversity and African origin of the 17q21.31 inversion polymorphism.Perspectives on stress resilience and adolescent neurobehavioral function.Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.Common variants at 6q22 and 17q21 are associated with intracranial volume.The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.Molecular and clinical delineation of the 17q22 microdeletion phenotype.Genomic disorders ten years on.Characterization of six human disease-associated inversion polymorphisms Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.The prevalence of chromosomal deletions relating to developmental delay and/or intellectual disability in human euploid blastocysts.Duplication hotspots, rare genomic disorders, and common disease.A case of 17q21.31 microduplication and 7q31.33 microdeletion, associated with developmental delay, microcephaly, and mild dysmorphic features.Genotype to phenotype-discovery and characterization of novel genomic disorders in a "genotype-first" era."Idiopathic" mental retardation and new chromosomal abnormalities.Functional enrichment analysis with structural variants: pitfalls and strategies.

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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

http://www.wikidata.org/entity/Q24624737

description

2008 nî lūn-bûn

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2008 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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2008年の論文

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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

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Journal of Medical Genetics

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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

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A C Krepischi-Santos

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A Destrée

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A Goldenberg

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A Hackett

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A J Sharp

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A O M Wilkie

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A Rauch

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B B A de Vries

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B Grisart

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Structural variation in the human genome

UBE3A/E6-AP mutations cause Angelman syndrome

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

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

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

Genome architecture, rearrangements and genomic disorders

A common inversion under selection in Europeans

PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing

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710-20

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45

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