MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q (Q33622853)

28 July 2017

MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q (English)

1 reference

28 July 2017

J A S Vorstman

1

1 reference

28 July 2017

G R Jalali

2

1 reference

28 July 2017

E F Rappaport

3

1 reference

28 July 2017

A M Hacker

4

1 reference

28 July 2017

C Scott

5

1 reference

28 July 2017

B S Emanuel

6

1 reference

28 July 2017

1 August 2006

1 reference

28 July 2017

1 reference

28 July 2017

27

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28 July 2017

8

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28 July 2017

814-821

1 reference

Microduplication and triplication of 22q11.2: a highly variable syndrome

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814414

Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814414

Large-scale copy number polymorphism in the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814414

MLPA and MAPH: new techniques for detection of gene deletions

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814414

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen 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=2814414

A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814414

The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814414

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814414

Multicolor fluorescence in situ hybridization in clinical cytogenetic diagnostics

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814414

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=2814414

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=2814414

Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814414

Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814414

A common molecular basis for rearrangement disorders on chromosome 22q11

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814414

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=2814414

A population study of chromosome 22q11 deletions in infancy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814414

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=2814414

Prevalence of 22q11 microdeletion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814414

22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes.

21 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.20330

Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814414

Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814414

Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814414

Molecular studies of an ependymoma-associated constitutional t(1;22)(p22;q11.2).

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814414

Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome

30 October 2018

1 reference

12 December 2020

A novel sequence-based approach to localize translocation breakpoints identifies the molecular basis of a t(4;22)

1 reference

12 December 2020

A deletion in chromosome 22 can cause DiGeorge syndrome

1 reference

12 December 2020

Characterization of the supernumerary chromosome in cat eye syndrome

1 reference

12 December 2020

Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency

1 reference

12 December 2020

Behavior problems and personality aspects of 40 children with velo-cardio-facial syndrome

1 reference

12 December 2020

Lethal multiple pterygium syndrome: importance of fetal physical examination

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.20330

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1002/HUMU.20330

1 reference

28 July 2017

1 reference

28 July 2017

1 reference