(Q35406225)

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Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.

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6 February 2020

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Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis (English)

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6 February 2020

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6 February 2020

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Han Brunner

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6 February 2020

Helger G Yntema

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Helger Yntema

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6 February 2020

Bert B A de Vries

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Bert de Vries

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6 February 2020

Dorien Lugtenberg

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Dorien Lugtenberg

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6 February 2020

Ernie M H F Bongers

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Ernie Bongers

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6 February 2020

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Ilse Feenstra

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6 February 2020

Nicolien Hanemaaijer

2

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6 February 2020

Birgit Sikkema-Raddatz

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6 February 2020

Trijnie Dijkhuizen

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6 February 2020

Joke Verheij

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6 February 2020

Roel Hordijk

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6 February 2020

William Reardon

10

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6 February 2020

Nicole de Leeuw

14

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6 February 2020

Conny van Ravenswaaij-Arts

15

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6 February 2020

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29 June 2011

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6 February 2020

European Journal of Human Genetics

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6 February 2020

19

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6 February 2020

11

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6 February 2020

1152-1160

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6 February 2020

https://scigraph.springernature.com/pub.10.1038/ejhg.2011.120

0 references

Large duplications at reciprocal translocation breakpoints that might be the counterpart of large deletions and could arise from stalled replication bubbles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198145

27 July 2018

The clinical spectrum of complete FBN1 allele deletions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198145

27 July 2018

Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198145

27 July 2018

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198145

27 July 2018

Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198145

27 July 2018

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198145

27 July 2018

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198145

27 July 2018

A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198145

27 July 2018

Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198145

27 July 2018

Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198145

27 July 2018

Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198145

27 July 2018

Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198145

27 July 2018

Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198145

27 July 2018

Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198145

27 July 2018

Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198145

27 July 2018

A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198145

27 July 2018

The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198145

27 July 2018

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198145

27 July 2018

De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198145

27 July 2018

Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198145

27 July 2018

Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198145

26 September 2018

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198145

26 September 2018

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198145

26 September 2018

Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198145

26 September 2018

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198145

26 September 2018

Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198145

26 September 2018

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198145

26 September 2018

Disturbed serine metabolism and psychosis in a patient with a de novo translocation (2;10)(p23;q22.1).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198145

26 September 2018

Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198145

26 September 2018

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198145

26 September 2018

Diagnostic genome profiling in mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198145

26 September 2018

Coffin-Lowry phenotype in a patient with a complex chromosome rearrangement

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198145

26 September 2018

Identifiers

10.1038/EJHG.2011.120

1 reference

Europe PubMed Central

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6 February 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21712853%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

1 reference

Europe PubMed Central

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6 February 2020

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