(Q35432122)

English

Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes

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scholarly article

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Europe PubMed Central

PubMed publication ID

8 August 2017

Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes (English)

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

author name string

Wirth J

1

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Nothwang HG

2

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

van der Maarel S

3

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Menzel C

4

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Borck G

5

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Lopez-Pajares I

6

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Brøndum-Nielsen K

7

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Tommerup N

8

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Bugge M

9

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Ropers HH

10

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Haaf T

11

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Europe PubMed Central

PubMed publication ID

8 August 2017

language of work or name

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publication date

1 April 1999

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Journal of Medical Genetics

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Europe PubMed Central

PubMed publication ID

8 August 2017

36

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Europe PubMed Central

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8 August 2017

4

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Europe PubMed Central

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8 August 2017

271-278

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Europe PubMed Central

PubMed publication ID

8 August 2017

describes a project that uses

fluorescence in situ hybridization

1 reference

based on heuristic

inferred from title

High-resolution YAC-cosmid-STS map of human chromosome 13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734345

12 July 2018

Duplication and distribution of repetitive elements and non-unique regions in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734345

12 July 2018

Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734345

12 July 2018

Complex FISH probes for the subtelomeric regions of all human chromosomes: comparative hybridization of CEPH YACs to chromosomes of the Old World monkey Presbytis cristata and great apes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734345

12 July 2018

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734345

12 July 2018

Recombination hot spots and human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734345

12 July 2018

Integration of the cytogenetic, genetic, and physical maps of the human genome by FISH mapping of CEPH YAC clones

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734345

12 July 2018

Region-specific YAC banding and painting probes for comparative genome mapping: implications for the evolution of human chromosome 2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734345

12 July 2018

Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734345

12 July 2018

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734345

12 July 2018

High-density cDNA filter analysis of the expression profiles of the genes preferentially expressed in human brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734345

12 July 2018

The 13q- syndrome: the molecular definition of a critical deletion region in band 13q32.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734345

12 July 2018

A YAC contig map of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734345

12 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=1734345

12 July 2018

Deletion of chromosome 13 in Moebius syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734345

12 July 2018

Duplication-targeted DNA methylation and mutagenesis in the evolution of eukaryotic chromosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734345

12 July 2018

Positional cloning: let's not call it reverse anymore

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734345

12 July 2018

A case of 46,XY,t(1;13) (q24;q32) with mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734345

12 July 2018

Three-generation pedigree of a Möbius syndrome variant with chromosome translocation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734345

12 July 2018

Degenerate oligonucleotide-primed PCR: General amplification of target DNA by a single degenerate primer

1 reference

https://pubmed.ncbi.nlm.nih.gov/10227392

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

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