Genomic disorders on 22q11 (Q24563977)

American Journal of Human Genetics

Europe PubMed Central

title

Genomic disorders on 22q11 (English)

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Bernice E Morrow

2

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author name string

Heather E McDermid

series ordinal

1

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language of work or name

English

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publication date

May 2002

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published in

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volume

70

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issue

5

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page(s)

1077-88

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cites work

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27 September 2017

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

27 September 2017

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Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients

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27 September 2017

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Velo-cardio-facial syndrome and psychotic disorders: implications for psychiatric genetics

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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Bipolar spectrum disorders in patients diagnosed with velo-cardio-facial syndrome: does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder?

27 September 2017

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A family of genes with growth factor and adenosine deaminase similarity are preferentially expressed in the salivary glands of Glossina m. morsitans

27 September 2017

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Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features of DGS/VCFS: a balanced (21;22)(p12;q11) translocation

30 May 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447586

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30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447586

Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447586

Mice overexpressing genes from the 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndrome have middle and inner ear defects

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447586

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447586

Deletion of 150 kb in the minimal DiGeorge/velocardiofacial syndrome critical region in mouse.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447586

High rates of schizophrenia in adults with velo-cardio-facial syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447586

A novel 22q11.2 microdeletion in DiGeorge syndrome

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447586

Goosecoid-like (Gscl), a candidate gene for velocardiofacial syndrome, is not essential for normal mouse development

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447586

Functional analysis of Gscl in the pathogenesis of the DiGeorge and velocardiofacial syndromes

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447586

The gene for death agonist BID maps to the region of human 22q11.2 duplicated in cat eye syndrome chromosomes and to mouse chromosome 6.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447586

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447586

Detection of an atypical 22q11 deletion that has no overlap with the DiGeorge syndrome critical region

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447586

Cloning and developmental expression analysis of chick Hira (Chira), a candidate gene for DiGeorge syndrome

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447586

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447586

Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447586

A high-density YAC contig map of human chromosome 22

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447586

Analysis of cranial neural crest distribution in the developing heart using quail-chick chimeras

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447586

Long AT-rich palindromes and the constitutional t(11;22) breakpoint

28 November 2018

1 reference

12 December 2020

The 11q;22q translocation: a European collaborative analysis of 43 cases

1 reference

12 December 2020

Incomplete trisomy 22. I. Familial 11/22 translocation with 3:1 meiotic disjunction. Delineation of a common clinical picture and report of nine new cases from six families

1 reference

12 December 2020

A deletion in chromosome 22 can cause DiGeorge syndrome

1 reference

12 December 2020

Dependence of thymus development on derivatives of the neural crest

1 reference

12 December 2020

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

1 reference

12 December 2020

Characterization of conotruncal malformations following ablation of "cardiac" neural crest

1 reference

12 December 2020

Characterization of the supernumerary chromosome in cat eye syndrome

1 reference

12 December 2020

Congenital heart disease in supernumerary der(22),t(11;22) syndrome

1 reference

12 December 2020

Mapping of the early neural primordium in quail-chick chimeras. II. The prosencephalic neural plate and neural folds: implications for the genesis of cephalic human congenital abnormalities

1 reference

12 December 2020

Effect of neural crest ablation on development of the heart and arch arteries in the chick

1 reference

12 December 2020

Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR).

1 reference

12 December 2020

Congenital heart disease in mice deficient for the DiGeorge syndrome region

1 reference

12 December 2020

Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome

1 reference

12 December 2020

Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome

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

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

1 reference

12 December 2020

Sequence-ready physical map of the mouse chromosome 16 region with conserved synteny to the human velocardiofacial syndrome region on 22q11.2.

1 reference

12 December 2020

A new concept of the cellular basis of immunity

1 reference

Crossref

https://api.crossref.org/works/10.1086/340363

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/340363

1 reference

1 reference

1 reference

PubMed publication ID

11925570

1 reference