Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH - Test2 - elhamkhani - TriplyDB

Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH

Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH

http://www.wikidata.org/entity/Q33904927

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Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3 Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features Application of array-based comparative genomic hybridization to clinical diagnostics Causation of permanent unilateral and mild bilateral hearing loss in children A multiplex PCR predictor for aCGH success of FFPE samples.From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities.Genomic microarrays in human genetic disease and cancer.Applications of microarrays to histopathology.Application of multicolor banding for identification of complex chromosome 18 rearrangements.Chromosomal phenotypes and submicroscopic abnormalities Array-based comparative genomic hybridization in clinical diagnosis.Identification of disease genes by whole genome CGH arrays.Evolution of prenatal genetics: from point mutation testing to chromosomal microarray analysis.Identification and characterisation of constitutional chromosome abnormalities using arrays of bacterial artificial chromosomes.Oligonucleotide arrays for high-resolution analysis of copy number alteration in mental retardation/multiple congenital anomalies.Phenotypic and molecular characterization of partial trisomy 2q resulting from insertion-duplication in chromosome 18q: a case report and review of literature.Genetic Advances in the Understanding of Microtia.A Korean case of de novo 18q deletion syndrome with a large atrial septal defect and cyanosis.Strategies for genotyping.Sonographic imaging of fetal tympanic rings.Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders.Identification and characterization of a new type of asymmetrical dicentric chromosome derived from a single maternal chromosome 18.Detection and calibration of microdeletions and microduplications by array-based comparative genomic hybridization and its applicability to clinical genetic testing.Subtelomeric 6p deletion: clinical, FISH, and array CGH characterization of two cases.Abnormal myelination in ring chromosome 18 syndrome.Strategies for genotype generation Familial 4.8 MB deletion on 18q23 associated with growth hormone insufficiency and phenotypic variability Development and validation of a CGH microarray for clinical cytogenetic diagnosis

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P2860

Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH

http://www.wikidata.org/entity/Q33904927

description

2003 nî lūn-bûn

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2003 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2003 թվականի մայիսին հրատարակված գիտական հոդված

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2003年の論文

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2003年論文

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2003年論文

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2003年論文

@zh-hk

2003年論文

@zh-mo

2003年論文

@zh-tw

2003年论文

@wuu

name

Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH

@ast

Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH

@en

type

label

Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH

@ast

Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH

@en

prefLabel

Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH

@ast

Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH

@en

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American Journal of Human Genetics

P1476

Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH

@en

P2093

Ad Geurts van Kessel

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

Conny M van Ravenswaaij-Arts

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

Dominique Smeets

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

Eric F P M Schoenmakers

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

Erik Huys

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

Griet Van Buggenhout

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

Inge Nuijten

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

Irene Janssen

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

Jean-Pierre Fryns

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

Joris Vermeesch

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

P2860

Structural organization and chromosomal localization of three human galanin receptor genes

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

Cloning and characterization of ZNF236, a glucose-regulated Kruppel-like zinc-finger gene mapping to human chromosome 18q22-q23.

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

Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype.

Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q.

SALL3, a new member of the human spalt-like gene family, maps to 18q23.

Syndromes associated with deletion of the long arm of chromosome 18[del(18q)].

Characterizing the physical genome.

Molecular analysis of the 18q- syndrome--and correlation with phenotype.

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10.1086/375695

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6

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72

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Adrianus Henricus Maria Geurts van Kessel

Joris A Veltman

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2003-05-09T00:00:00Z

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10765050

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12740760

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