Identification of disease genes by whole genome CGH arrays (Q36294690)

13 August 2017

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title

Identification of disease genes by whole genome CGH arrays (English)

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Adrianus Henricus Maria Geurts van Kessel

13 August 2017

whole genome sequencing

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based on heuristic

inferred from title

author

series ordinal

3

object named as

Ad Geurts van Kessel

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Joris A Veltman

object named as

Joris A Veltman

series ordinal

2

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Han G. Brunner

series ordinal

4

object named as

Han G Brunner

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13 August 2017

1

Lisenka E L M Vissers

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13 August 2017

3

Ad Geurts van Kessel

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13 August 2017

1 October 2005

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13 August 2017

Human Molecular Genetics

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13 August 2017

14 Spec No. 2

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13 August 2017

R215-23

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Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders

13 August 2017

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Gardner syndrome in a man with an interstitial deletion of 5q.

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CHROMOSOME DELETION IN A CASE OF RETINOBLASTOMA.

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Contiguous gene syndromes: a component of recognizable syndromes

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Clinical, cytogenetic, and molecular approaches to the genetic heterogeneity of holoprosencephaly

21 January 2018

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Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

21 January 2018

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Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired

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Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

21 January 2018

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Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination

21 January 2018

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Mutations in RAI1 associated with Smith-Magenis syndrome.

21 January 2018

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UBE3A/E6-AP mutations cause Angelman syndrome

21 January 2018

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Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice

21 January 2018

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Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.

21 January 2018

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Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3

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14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome

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Genome architecture, rearrangements and genomic disorders

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Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A

21 January 2018

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Proteolipid protein gene: Pelizaeus-Merzbacher disease in humans and neurodegeneration in mice

21 January 2018

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Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism

21 January 2018

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The human gene mutation database

21 January 2018

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Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A.

21 January 2018

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NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes

21 January 2018

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Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

21 January 2018

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Array comparative genomic hybridization and its applications in cancer

21 January 2018

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Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation

21 January 2018

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Large-scale copy number polymorphism in the human genome

21 January 2018

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Whole genome DNA copy number changes identified by high density oligonucleotide arrays

21 January 2018

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

21 January 2018

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High resolution microarray comparative genomic hybridisation analysis using spotted oligonucleotides

21 January 2018

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Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome

21 January 2018

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High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization

21 January 2018

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Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation

21 January 2018

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Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.

21 January 2018

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Prader-Willi syndrome resulting from an unbalanced translocation: characterization by array comparative genomic hybridization

21 January 2018

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BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications

21 January 2018

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Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders

21 January 2018

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Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map.

21 January 2018

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A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications

21 January 2018

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

21 January 2018

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Chromosomal anomalies on 6p25 in iris hypoplasia and Axenfeld-Rieger syndrome patients defined on a purpose-built genomic microarray

21 January 2018

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Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3

21 January 2018

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High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation.

21 January 2018

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

21 January 2018

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Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

21 January 2018

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Breakpoint identification and smoothing of array comparative genomic hybridization data

21 January 2018

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SW-ARRAY: a dynamic programming solution for the identification of copy-number changes in genomic DNA using array comparative genome hybridization data

21 January 2018

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

21 January 2018

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

21 January 2018

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Detection of large-scale variation in the human genome

21 January 2018

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Fine-scale structural variation of the human genome

21 January 2018

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Segmental duplications and copy-number variation in the human genome

21 January 2018

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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

21 January 2018

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Choanal atresia and associated multiple anomalies

21 January 2018

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Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

21 January 2018

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Balanced t(6;8)(6p8p;6q8q) and the CHARGE association

21 January 2018

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A mammalian DNA-binding protein that contains a chromodomain and an SNF2/SWI2-like helicase domain

21 January 2018

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Characterization of the CHD family of proteins

21 January 2018

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Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

21 January 2018

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Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

21 January 2018

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Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome

21 January 2018

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Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1

21 January 2018

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A CGH study of 27 patients with CHARGE association

21 January 2018

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SNP genotyping to screen for a common deletion in CHARGE syndrome

21 January 2018

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Familial syndromic esophageal atresia maps to 2p23-p24.

21 January 2018

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MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.

21 January 2018

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Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA.

21 January 2018

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Molecular karyotyping using an SNP array for genomewide genotyping.

21 January 2018

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High-resolution analysis of chromosomal imbalances using the Affymetrix 10K SNP genotyping chip.

21 January 2018

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Spectrum of NSD1 mutations in Sotos and Weaver syndromes

21 January 2018

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Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.

21 January 2018

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Alagille syndrome and deletion of 20p.

21 January 2018

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Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population

21 January 2018

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Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations

21 January 2018

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CTNS mutations in an American-based population of cystinosis patients

21 January 2018

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Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain

21 January 2018

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Conversion of diploidy to haploidy

21 January 2018

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Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation

21 January 2018

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FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation

21 January 2018

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Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome.

21 January 2018

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A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.

21 January 2018

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Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region

21 January 2018

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Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?

21 January 2018

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A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease

21 January 2018

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Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM

21 January 2018

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Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2).

21 January 2018

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A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

21 January 2018

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Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome

21 January 2018

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Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors

21 January 2018

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Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDI268

1 reference

13 August 2017

1 reference

PubMed ID

16244320