Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion (Q33717829)

28 July 2017

Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion (English)

1 reference

28 July 2017

Donna M McDonald-McGinn

5

object named as

Donna M McDonald-McGinn

1 reference

28 July 2017

Sulagna C Saitta

1

1 reference

28 July 2017

Stacy E Harris

2

1 reference

28 July 2017

Ann P Gaeth

3

1 reference

28 July 2017

Deborah A Driscoll

4

1 reference

28 July 2017

Melissa K Maisenbacher

6

1 reference

28 July 2017

Jill M Yersak

7

1 reference

28 July 2017

Prabir K Chakraborty

8

1 reference

28 July 2017

April M Hacker

9

1 reference

28 July 2017

Elaine H Zackai

10

1 reference

28 July 2017

Terry Ashley

11

1 reference

28 July 2017

Beverly S Emanuel

12

1 reference

28 July 2017

17 December 2003

1 reference

28 July 2017

Human Molecular Genetics

1 reference

28 July 2017

13

1 reference

28 July 2017

4

1 reference

28 July 2017

417-428

1 reference

Mutational mechanisms of Williams-Beuren syndrome deletions

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836129

Male mouse recombination maps for each autosome identified by chromosome painting

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836129

Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836129

Molecular mechanisms for genomic disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836129

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836129

Segmental duplications: an 'expanding' role in genomic instability and disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836129

The 22q11.2 deletion syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836129

Investigation of meiotic rearrangements in DGS/VCFS patients with a microdeletion 22q11.2.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836129

Unequal meiotic crossover: a frequent cause of NF1 microdeletions.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836129

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836129

The DNA sequence of human chromosome 22

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836129

Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836129

The Philadelphia story: the 22q11.2 deletion: report on 250 patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836129

Distribution of crossing over on mouse synaptonemal complexes using immunofluorescent localization of MLH1 protein.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836129

Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836129

The mechanisms involved in formation of deletions and duplications of 15q11-q13.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836129

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836129

Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836129

Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836129

Developmental genetics of the heart

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836129

Involvement of mouse Mlh1 in DNA mismatch repair and meiotic crossing over

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836129

Pulmonary atresia associated with maternal 22q11.2 deletion: possible parent of origin effect in the conotruncal anomaly face syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836129

Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836129

Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836129

Collection of genomic DNA by buccal swabs for polymerase chain reaction-based biomarker assays

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836129

High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836129

7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836129

PCR assay for screening patients at risk for 22q11.2 deletion

30 October 2018

1 reference

12 December 2020

Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome

1 reference

12 December 2020

Human genetic map. Genome maps V. Wall chart

1 reference

12 December 2020

Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!

1 reference

12 December 2020

Covariation of synaptonemal complex length and mammalian meiotic exchange rates

1 reference

12 December 2020

No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndrome

1 reference

12 December 2020

Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions

1 reference

12 December 2020

Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDH041

1 reference

28 July 2017

1 reference

28 July 2017

1 reference