(Q37004771)

English

Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation

scientific article published on 15 December 2006

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation (English)

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Joris R Vermeesch

8

object named as

Joris Robert Vermeesch

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Jean-Pierre Fryns

7

object named as

Jean-Pierre Fryns

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

author name string

Elyes Chabchoub

1

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Laura Rodríguez

2

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Enrique Galán

3

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Elena Mansilla

4

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Maria Luisa Martínez-Fernandez

5

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Maria Luisa Martínez-Frías

6

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

language of work or name

0 references

publication date

15 December 2006

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

44

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

4

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

250-256

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598050

29 September 2017

Telomeres, interstitial telomeric repeat sequences, and chromosomal aberrations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598050

29 September 2017

Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598050

29 September 2017

Inverted duplications: how many of them are mosaic?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598050

29 September 2017

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598050

29 September 2017

Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598050

29 September 2017

Fetoplacental discrepancy involving structural abnormalities of chromosome 8 detected by prenatal diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598050

29 September 2017

Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598050

29 September 2017

BLAST 2 Sequences, a new tool for comparing protein and nucleotide sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598050

29 September 2017

De novo inverted duplication 9p21pter involving telomeric repeated sequences.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598050

29 September 2017

Chromosome break-induced DNA replication leads to nonreciprocal translocations and telomere capture.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598050

29 September 2017

The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598050

29 September 2017

Molecular and cytogenetic characterization of 9p- abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598050

29 September 2017

Telomeres: beginning to understand the end.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598050

29 September 2017

Partial monosomy 8p and partial trisomy 8p with moderate mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598050

29 September 2017

Partial duplication of the short arm of chromosome 9 (p13→p22) in a child with typical 9p trisomy phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598050

29 September 2017

Chromosome healing, telomere capture and mechanisms of radiation-induced chromosome breakage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598050

27 June 2018

Telomerase activity in human germline and embryonic tissues and cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598050

27 June 2018

18q- and 18q+ mosaicism in a mentally retarded boy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598050

27 June 2018

Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598050

4 September 2018

The first three mosaic cri du chat syndrome patients with two rearranged cell lines

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598050

4 September 2018

Molecular cytogenetic characterization and origin of two de novo duplication 9p cases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598050

4 September 2018

Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598050

4 December 2018

Telomere capture stabilizes chromosome breakage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598050

4 December 2018

Dicentric chromosome 9 due to tandem duplication of the 9p11-q13 region: unusual chromosome 9 variant

1 reference

https://pubmed.ncbi.nlm.nih.gov/17172463

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Submicroscopic terminal deletion of 1p36.3 and Xp23 hidden in complex chromosome rearrangements: independent mechanism of telomere restitution on the two chromatids

1 reference

https://pubmed.ncbi.nlm.nih.gov/17172463

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A clinical syndrome associated with 5p duplication and 9p deletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/17172463

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of a case of 46,XY,18p-/46,XY,18p+ mosaicism

1 reference

https://pubmed.ncbi.nlm.nih.gov/17172463

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Breakpoint mapping in a case of mosaicism with partial monosomy 9p23 --> pter and partial trisomy 1q41 --> qter suggests neo-telomere formation in stabilizing the deleted chromosome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17172463

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2006.045476

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

ResearchGate publication ID

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