Microduplication and triplication of 22q11.2: a highly variable syndrome (Q24531527)

4 July 2017

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

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4 July 2017

Bernice E Morrow

8

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Helen Firth

4

object named as

Helen V Firth

1 reference

4 July 2017

12

Francois Bernier

1 reference

4 July 2017

Twila M Yobb

1

1 reference

4 July 2017

Martin J Somerville

2

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4 July 2017

Lionel Willatt

3

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4 July 2017

Karen Harrison

5

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4 July 2017

Jennifer MacKenzie

6

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4 July 2017

Natasha Gallo

7

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4 July 2017

Lisa G Shaffer

9

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4 July 2017

Melanie Babcock

10

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4 July 2017

Judy Chernos

11

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4 July 2017

Kathy Sprysak

13

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4 July 2017

Jesse Christiansen

14

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4 July 2017

Shelagh Haase

15

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4 July 2017

Basil Elyas

16

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4 July 2017

Margaret Lilley

17

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4 July 2017

Steven Bamforth

18

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4 July 2017

Heather E McDermid

19

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4 July 2017

language of work or name

English

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publication date

30 March 2005

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American Journal of Human Genetics

4 July 2017

published in

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4 July 2017

volume

76

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4 July 2017

issue

5

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4 July 2017

page(s)

865-876

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

4 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199375

Genomic disorders on 22q11

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199375

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199375

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199375

A common molecular basis for rearrangement disorders on chromosome 22q11

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199375

Interstitial deletion of (17)(p11.2p11.2) in nine patients

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199375

A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199375

A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199375

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199375

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199375

The detection of large deletions or duplications in genomic DNA.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199375

Molecular-evolutionary mechanisms for genomic disorders

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199375

Molecular mechanisms for constitutional chromosomal rearrangements in humans

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199375

Measurement of locus copy number by hybridisation with amplifiable probes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199375

The behavioural phenotype in velo-cardio-facial syndrome (VCFS): from infancy to adolescence

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199375

Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199375

Interstitial duplication of proximal 22q: phenotypic overlap with cat eye syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199375

DNA copy-number analysis of the 22q11 deletion-syndrome region using array-CGH with genomic and PCR-based targets.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199375

A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199375

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199375

Tandem duplication of proximal 22q: a cause of cat-eye syndrome

29 November 2018

1 reference

12 December 2020

Characterization of the supernumerary chromosome in cat eye syndrome

1 reference

12 December 2020

De novo tandem duplication of chromosome segment 22q11-q12: clinical, cytogenetic, and molecular characterization

1 reference

12 December 2020

Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints

1 reference

12 December 2020

A new concept of the cellular basis of immunity

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F429841

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/429841

1 reference

release_oza6ynwhkreslgcvxubljnmvve

4 July 2017

Fatcat ID

0 references

PMC publication ID

1199375

1 reference

4 July 2017

1 reference