Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients (Q24532183)

4 July 2017

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

1 reference

4 July 2017

0 references

Rhett P Ketterling

15

Rhett P

Ketterling

1 reference

20 October 2023

5

Noralane M Lindor

Noralane M

Lindor

1 reference

4 July 2017

Regina E Ensenauer

1

Regina E

Ensenauer

1 reference

4 July 2017

Adewale Adeyinka

2

Adewale

Adeyinka

1 reference

4 July 2017

Heather C Flynn

3

Heather C

Flynn

1 reference

4 July 2017

Virginia V Michels

4

Virginia V

Michels

1 reference

4 July 2017

D Brian Dawson

6

D Brian

Dawson

1 reference

4 July 2017

Erik C Thorland

7

Erik C

Thorland

1 reference

4 July 2017

Cindy Pham Lorentz

8

Cindy Pham

Lorentz

1 reference

4 July 2017

Jennifer L Goldstein

9

Jennifer L

Goldstein

1 reference

4 July 2017

Marie T McDonald

10

Marie T

McDonald

1 reference

4 July 2017

Wendy E Smith

11

Wendy E

Smith

1 reference

4 July 2017

Elba Simon-Fayard

12

Elba

Simon-Fayard

1 reference

4 July 2017

Alan A Alexander

13

Alan A

Alexander

1 reference

4 July 2017

Anita S Kulharya

14

Anita S

Kulharya

1 reference

4 July 2017

Robin D Clark

16

Robin D

Clark

1 reference

4 July 2017

Syed M Jalal

17

Syed M

Jalal

1 reference

4 July 2017

language of work or name

English

0 references

publication date

2 October 2003

1 reference

American Journal of Human Genetics

4 July 2017

1 reference

4 July 2017

73

1 reference

4 July 2017

5

1 reference

4 July 2017

1027-1040

1 reference

Genomic disorders on 22q11

4 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180483

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=1180483

Phenotypic variability of the cat eye syndrome. Case report and review of the literature

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180483

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180483

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=1180483

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=1180483

Genome architecture, rearrangements and genomic disorders

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180483

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180483

Thrombocytopenia in patients with 22q11.2 deletion syndrome and its association with glycoprotein Ib-beta

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180483

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=1180483

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180483

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=1180483

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180483

Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) 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=1180483

Velo-cardio-facial syndrome: a review of 120 patients.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180483

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=1180483

Partial trisomy 22 (q11.2-q13.1) as a result of duplication and pericentric inversion

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180483

The organization of the gamma-glutamyl transferase genes and other low copy repeats in human 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=1180483

Inverted tandem (“mirror”) duplications in human chromosomes: Inv dup 8p, 4q, 22q

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180483

Genetic and clinical characterization of patients with an interstitial duplication 15q11‐q13, emphasizing behavioral phenotype and response to treatment

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180483

Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180483

Disclosing the mechanisms of origin of de novo short-arm duplications of chromosome 9

29 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

1 reference

12 December 2020

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

1 reference

12 December 2020

DNA fluorescent probes for diagnosis of velocardiofacial and related syndromes

1 reference

12 December 2020

De novo direct duplication of chromosome segment 22q11.2-q13.1.

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

Identifiers

DOI

10.1086/378818

1 reference

release_yzta2ind5fdp3ew6jaiw76kpwa

4 July 2017

0 references

OpenCitations bibliographic resource ID

4958511

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference