(Q36804757)

16 August 2017

Mapping translocation breakpoints by next-generation sequencing (English)

1 reference

16 August 2017

2

1 reference

16 August 2017

Wei Chen

1

0 references

Martin Vingron

18

object named as

Martin Vingron

1 reference

16 August 2017

4

Corinna Menzel

1 reference

16 August 2017

5

Reinhard Ullmann

1 reference

16 August 2017

7

Fikret Erdogan

1 reference

16 August 2017

14

Imma Rost

1 reference

16 August 2017

Andreas Tzschach

3

1 reference

16 August 2017

Marcel Holger Schulz

6

1 reference

16 August 2017

Na Li

8

1 reference

16 August 2017

Zofia Kijas

9

1 reference

16 August 2017

Ger Arkesteijn

10

1 reference

16 August 2017

Isidora Lopez Pajares

11

1 reference

16 August 2017

Margret Goetz-Sothmann

12

1 reference

16 August 2017

Uwe Heinrich

13

1 reference

16 August 2017

Andreas Dufke

15

1 reference

16 August 2017

Ute Grasshoff

16

1 reference

16 August 2017

Birgitta Glaeser

17

1 reference

16 August 2017

H Hilger Ropers

19

1 reference

16 August 2017

7 March 2008

1 reference

16 August 2017

1 reference

16 August 2017

18

1 reference

16 August 2017

1143-1149

1 reference

16 August 2017

7

1 reference

describes a project that uses

16 August 2017

massive parallel sequencing

1 reference

based on heuristic

inferred from title

cites work

A defect in the TUSC3 gene is associated with autosomal recessive mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493403

Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493403

Paired-end mapping reveals extensive structural variation in the human genome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493403

NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493403

Array painting using microdissected chromosomes to map chromosomal breakpoints

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493403

NCBI GEO: mining tens of millions of expression profiles--database and tools update

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493403

SUMO1 haploinsufficiency leads to cleft lip and palate

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493403

Ultra-high resolution array painting facilitates breakpoint sequencing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493403

Sequence variants in SLITRK1 are associated with Tourette's syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493403

Chromosomal breakpoint mapping by arrayCGH using flow-sorted chromosomes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493403

Array painting: a method for the rapid analysis of aberrant chromosomes using DNA microarrays

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493403

A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493403

Schizophrenia and affective disorders--cosegregation with a translocation at chromosome 1q42 that directly disrupts brain-expressed genes: clinical and P300 findings in a family.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493403

Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493403

Reverse chromosome painting for the identification of marker chromosomes and complex translocations in leukemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493403

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493403

Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493403

Control of glycoprotein synthesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493403

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493403

The Eph family in retinal axon guidance

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493403

High-performance liquid chromatography assays for N-acetylglucosaminyltransferases involved in N- and O-glycan synthesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493403

Methylthioadenosine phosphorylase (MTAP) in hearing: gene disruption by chromosomal rearrangement in a hearing impaired individual and model organism analysis.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493403

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493403

Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493403

Loss-of-function analysis of EphA receptors in retinotectal mapping.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493403

Maturity-onset diabetes of the young caused by a balanced translocation where the 20q12 break point results in disruption upstream of the coding region of hepatocyte nuclear factor-4alpha (HNF4A) gene.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493403

Molecular characterization of a balanced chromosome translocation in psoriasis vulgaris

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493403

Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases

4 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18326688

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1101/GR.076166.108

1 reference

16 August 2017

1 reference

16 August 2017

1 reference