High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization - Wikidata - wikimedia - TriplyDB

High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization

High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization

http://www.wikidata.org/entity/Q24530660

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Cri du Chat syndrome Effectively incorporating selected multimedia content into medical publications.The linear ubiquitin-specific deubiquitinase gumby regulates angiogenesis High resolution genomic analysis of 18q- using oligo-microarray comparative genomic hybridization (aCGH)Impact of whole genome amplification on analysis of copy number variants 5p deletions: Current knowledge and future directions.A cryptic balanced translocation (5;17), a puzzle revealed through a critical evaluation of the pedigree and a FISH focused on candidate loci suggested by the phenotype.An improved method for genome wide DNA methylation profiling correlated to transcription and genomic instability in two breast cancer cell lines.Cri-du-Chat Syndrome Cytogenetically Cryptic Recombination Aneusomy of Chromosome 5: Implications in Recurrence Risk Estimation.The clinical significance of small copy number variants in neurodevelopmental disorders Cri du chat syndrome and primary ciliary dyskinesia: a common genetic cause on chromosome 5p.Disorders caused by chromosome abnormalities.A coalescence of two syndromes in a girl with terminal deletion and inverted duplication of chromosome 5.Biochemical and genetic analysis of ANK in arthritis and bone disease Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity δ-Catenin Regulates Spine Architecture via Cadherin and PDZ-dependent Interactions.Routine chromosomal microarray analysis is necessary in Korean patients with unexplained developmental delay/mental retardation/autism spectrum disorder.Array comparative genomic hybridization and its applications in cancer.Recent advances in array comparative genomic hybridization technologies and their applications in human genetics.Cri-Du-Chat Syndrome: Clinical Profile and Chromosomal Microarray Analysis in Six Patients.A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay.Recurrent CNVs disrupt three candidate genes in schizophrenia patients Array comparative genomic hybridization and computational genome annotation in constitutional cytogenetics: suggesting candidate genes for novel submicroscopic chromosomal imbalance syndromes.DNA copy number aberrations in breast cancer by array comparative genomic hybridization.Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays.Mutations in the human UBR1 gene and the associated phenotypic spectrum.Human Structural Variation: Mechanisms of Chromosome Rearrangements.Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia.Familial distal monosomy 5p15.3-pter with trisomy 12q24.2-qter resulting in neurodevelopmental delay and dysmorphic features.Delineation of behavioral phenotypes in genetic syndromes: characteristics of autism spectrum disorder, affect and hyperactivity.A novel 5p15.33-14.1 deletion and 4q34.24-35.2 duplication in a patient with mental retardation, dysmorphic features and severe speech delay.DNA methylome profiling of maternal peripheral blood and placentas reveal potential fetal DNA markers for non-invasive prenatal testing.Clinical and molecular genetic characterization of two siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pter.Discordance for Cri du Chat Syndrome in a dichorionic-diamniotic twin pregnancy.Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization.‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

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High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization

http://www.wikidata.org/entity/Q24530660

description

2005 nî lūn-bûn

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High-resolution mapping of gen ...... parative genomic hybridization

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Antoine Snijders

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Dan Pinkel

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Donna Albertson

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Erik Niebuhr

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Richard Segraves

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Xiaoxiao Zhang

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P2860

Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation

Detection of large-scale variation in the human genome

Large-scale copy number polymorphism in the human genome

High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays

Genome-wide analysis of DNA copy-number changes using cDNA microarrays

Fully automatic quantification of microarray image data

An integrated physical map for the short arm of human chromosome 5.

Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances.

Recent duplication, domain accretion and the dynamic mutation of the human genome.

Assembly of microarrays for genome-wide measurement of DNA copy number.

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