(Q42117684)

16 October 2017

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

1 reference

16 October 2017

Carolina Sismani

1

1 reference

16 October 2017

Sofia Kitsiou-Tzeli

2

1 reference

16 October 2017

Marios Ioannides

3

1 reference

16 October 2017

Christodoulos Christodoulou

4

1 reference

16 October 2017

Violetta Anastasiadou

5

1 reference

16 October 2017

Goula Stylianidou

6

1 reference

16 October 2017

Eleftheria Papadopoulou

7

1 reference

16 October 2017

Emanuel Kanavakis

8

1 reference

16 October 2017

Zoe Kosmaidou-Aravidou

9

1 reference

16 October 2017

Philippos C Patsalis

10

1 reference

16 October 2017

language of work or name

1 reference

21 July 2008

1 reference

16 October 2017

Molecular Cytogenetics

1 reference

16 October 2017

1

1 reference

16 October 2017

15

1 reference

https://scigraph.springernature.com/pub.10.1186/1755-8166-1-15

16 October 2017

0 references

cites work

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=2516517

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2516517

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2516517

Detection of large-scale variation in the human genome

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2516517

Large-scale copy number polymorphism in the human genome

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2516517

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2516517

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2516517

Recombination in a balanced complex translocation of a mother leading to a balanced reciprocal translocation in the child. Review of 60 cases of balanced complex translocations

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2516517

Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2516517

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2516517

On the excess of mental retardation and/or congenital malformations in apparently balanced reciprocal translocations. A critical review of the Leuven data 1966-1991

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2516517

Detection of cryptic chromosome aberrations in a patient with a balanced t(1;9)(p34.2;p24) by array-based comparative genomic hybridization.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2516517

Reciprocal translocations: a trap for cytogenetists?

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2516517

Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity

17 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18644119

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Molecular analysis of a reciprocal translocation t(5;11) (q11;p13) in a WAGR patient

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18644119

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

"Balanced" karyotypes in six abnormal offspring of balanced reciprocal translocation normal carrier parents

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18644119

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1755-8166-1-15

1 reference

Dimensions Publication ID

16 October 2017

0 references

1 reference

16 October 2017

PubMed publication ID

18644119

1 reference