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22q11 DS: genomic mechanisms and gene function in DiGeorge/velocardiofacial syndrome
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Europe PubMed Central
title
22q11 DS: genomic mechanisms and gene function in DiGeorge/velocardiofacial syndrome
(English)
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author name string
Thomas M Maynard
series ordinal
1
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Gloria T Haskell
series ordinal
2
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Jeffrey A Lieberman
series ordinal
3
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Anthony-Samuel LaMantia
series ordinal
4
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language of work or name
English
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publication date
2002
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PubMed
published in
International Journal of Developmental Neuroscience
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volume
20
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issue
3-5
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page(s)
407-19
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cites work
Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome
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Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome
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22q11 deletion syndrome: a genetic subtype of schizophrenia
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The septin CDCrel-1 binds syntaxin and inhibits exocytosis
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Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L)
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Characterization of the opposite-strand genes from the mouse bidirectionally transcribed HTF9 locus
1 reference
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7 January 2021
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Expression of the T-box family genes, Tbx1-Tbx5, during early mouse development.
1 reference
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Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene
1 reference
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7 January 2021
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Abr and Bcr are multifunctional regulators of the Rho GTP-binding protein family.
1 reference
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Prenatal development of monozygotic twins and concordance for schizophrenia
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Crossref
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No evidence for linkage between COMT and schizophrenia in a French population
1 reference
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Crossref
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7 January 2021
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Association study of a promoter polymorphism of UFD1L gene with schizophrenia
1 reference
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Crossref
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7 January 2021
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Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity.
1 reference
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7 January 2021
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Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
based on heuristic
inferred from DOI database lookup
The annual incidence of DiGeorge/velocardiofacial syndrome
1 reference
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Crossref
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7 January 2021
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Two E2F sites control growth-regulated and cell cycle-regulated transcription of the Htf9-a/RanBP1 gene through functionally distinct mechanisms.
1 reference
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7 January 2021
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Genetic basis of DiGeorge and velocardiofacial syndromes.
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7 January 2021
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inferred from DOI database lookup
Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
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A common molecular basis for rearrangement disorders on chromosome 22q11
1 reference
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Crossref
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7 January 2021
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Two Functional Copies of the DGCR6 Gene Are Present on Human Chromosome 22q11 Due to a Duplication of an Ancestral Locus
1 reference
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Crossref
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7 January 2021
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inferred from DOI database lookup
Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome: a preliminary study.
1 reference
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Crossref
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7 January 2021
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Developing models of DiGeorge syndrome
1 reference
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Crossref
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7 January 2021
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inferred from DOI database lookup
HIRA, a DiGeorge syndrome candidate gene, is required for cardiac outflow tract septation.
1 reference
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Crossref
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7 January 2021
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inferred from DOI database lookup
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.
1 reference
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Crossref
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Isolation and characterization of a human gene containing a nuclear localization signal from the critical region for velo-cardio-facial syndrome on 22q11
1 reference
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Crossref
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Tbx1, a DiGeorge syndrome candidate gene, is regulated by sonic hedgehog during pharyngeal arch development
1 reference
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Crossref
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Decreased dendritic spine density on prefrontal cortical pyramidal neurons in schizophrenia
1 reference
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Molecular characterization of a serine/threonine kinase in the DiGeorge minimal critical region
1 reference
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Crossref
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Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects
1 reference
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Crossref
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inferred from DOI database lookup
Monozygotic twins with chromosome 22q11 deletion and discordant phenotype
1 reference
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Crossref
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Catecholamines in patients with 22q11.2 deletion syndrome and the low-activity COMT polymorphism
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Crossref
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inferred from DOI database lookup
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1 reference
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7 January 2021
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1 reference
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Crossref
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7 January 2021
based on heuristic
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Expression of the murine RanBP1 and Htf9-c genes is regulated from a shared bidirectional promoter during cell cycle progression
1 reference
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Crossref
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7 January 2021
based on heuristic
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Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome
1 reference
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Crossref
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7 January 2021
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7 January 2021
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inferred from DOI database lookup
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1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
based on heuristic
inferred from DOI database lookup
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1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
based on heuristic
inferred from DOI database lookup
HIRA, the human homologue of yeast Hir1p and Hir2p, is a novel cyclin-cdk2 substrate whose expression blocks S-phase progression
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
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inferred from DOI database lookup
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reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Localization of the human mitochondrial citrate transporter protein gene to chromosome 22Q11 in the DiGeorge syndrome critical region
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
based on heuristic
inferred from DOI database lookup
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1 reference
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Crossref
reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
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Crossref
reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
based on heuristic
inferred from DOI database lookup
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7 January 2021
based on heuristic
inferred from DOI database lookup
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7 January 2021
based on heuristic
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7 January 2021
based on heuristic
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Molecular cloning and characterization of the mouse E2F6 gene.
1 reference
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7 January 2021
based on heuristic
inferred from DOI database lookup
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1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
based on heuristic
inferred from DOI database lookup
Human CDC45 protein binds to minichromosome maintenance 7 protein and the p70 subunit of DNA polymerase alpha
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
based on heuristic
inferred from DOI database lookup
A common cis-acting sequence in the DiGeorge critical region regulates bi-directional transcription of UFD1L and CDC45L.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
based on heuristic
inferred from DOI database lookup
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reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Mesenchymal/epithelial induction mediates olfactory pathway formation.
1 reference
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7 January 2021
based on heuristic
inferred from DOI database lookup
A human homolog of the S. cerevisiae HIR1 and HIR2 transcriptional repressors cloned from the DiGeorge syndrome critical region
1 reference
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Crossref
reference URL
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retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Low platelet count in a 22q11 deletion syndrome subtype of schizophrenia
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A mouse gene (Dgcr6) related to the Drosophila gonadal gene is expressed in early embryogenesis and is the homolog of a human gene deleted in DiGeorge syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Recovery from arterial growth delay reduces penetrance of cardiovascular defects in mice deleted for the DiGeorge syndrome region
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
ES2, a gene deleted in DiGeorge syndrome, encodes a nuclear protein and is expressed during early mouse development, where it shares an expression domain with a Goosecoid-like gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Association analysis of a functional catechol-o-methyltransferase gene polymorphism in schizophrenic patients in Taiwan
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cloning and characterization of a novel human clathrin heavy chain gene (CLTCL)
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Expression of Cdcrel-1 (Pnutl1), a gene frequently deleted in velo-cardio-facial syndrome/DiGeorge syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Neural development, cell-cell signaling, and the "two-hit" hypothesis of schizophrenia
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
RanBP1, a velocardiofacial/DiGeorge syndrome candidate gene, is expressed at sites of mesenchymal/epithelial induction
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Xenopus Cdc45-dependent loading of DNA polymerase alpha onto chromatin under the control of S-phase Cdk.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
based on heuristic
inferred from DOI database lookup
Claudin multigene family encoding four-transmembrane domain protein components of tight junction strands
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
based on heuristic
inferred from DOI database lookup
Endothelial claudin: claudin-5/TMVCF constitutes tight junction strands in endothelial cells
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
based on heuristic
inferred from DOI database lookup
Localization of a gamma-glutamyl-transferase-related gene family on chromosome 22.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
based on heuristic
inferred from DOI database lookup
High rates of schizophrenia in adults with velo-cardio-facial syndrome.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
based on heuristic
inferred from DOI database lookup
Immunohistochemical analysis of the expression of two serine-threonine kinases in the maturing mouse testis.
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
based on heuristic
inferred from DOI database lookup
The septin CDCrel-1 is dispensable for normal development and neurotransmitter release
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
BID mediates neuronal cell death after oxygen/ glucose deprivation and focal cerebral ischemia
1 reference
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https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
based on heuristic
inferred from DOI database lookup
Apoptosis in cardiac development
1 reference
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7 January 2021
based on heuristic
inferred from DOI database lookup
Mechanisms of transformation by the BCR/ABL oncogene
1 reference
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https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
based on heuristic
inferred from DOI database lookup
The 22q11 deletion syndromes
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
based on heuristic
inferred from DOI database lookup
The HIR protein family: isolation and characterization of a complete murine cDNA.
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
based on heuristic
inferred from DOI database lookup
The reduced neuropil hypothesis: a circuit based model of schizophrenia.
1 reference
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https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular mechanisms for constitutional chromosomal rearrangements in humans
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
based on heuristic
inferred from DOI database lookup
Characterization of CDC45L: a gene in the 22q11.2 deletion region expressed during murine and human development
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
based on heuristic
inferred from DOI database lookup
Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
based on heuristic
inferred from DOI database lookup
Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
based on heuristic
inferred from DOI database lookup
Identification, characterization, and precise mapping of a human gene encoding a novel membrane-spanning protein from the 22q11 region deleted in velo-cardio-facial syndrome
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
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Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
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The human mitochondrial citrate transporter gene (SLC20A3) maps to chromosome band 22q11 within a region implicated in DiGeorge syndrome, velo-cardio-facial syndrome and schizophrenia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
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Cytochrome c release upon Fas receptor activation depends on translocation of full-length bid and the induction of the mitochondrial permeability transition
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
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Cloning and mapping of murine Dgcr2 and its homology to the Sez-12 seizure-related protein.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
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Reciprocal expression of infant- and adult-preferring transcripts of CDCrel-1 septin gene in the rat neocortex.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
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The E2F6 transcription factor is a component of the mammalian Bmi1-containing polycomb complex
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
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Reduced olfactory bulb volume in patients with schizophrenia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
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Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
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Functional analysis of Gscl in the pathogenesis of the DiGeorge and velocardiofacial syndromes.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
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BID, a proapoptotic BCL-2 family member, is localized to mouse chromosome 6 and human chromosome 22q11.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
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Deregulated expression of DP1 induces epidermal proliferation and enhances skin carcinogenesis
1 reference
stated in
Crossref
reference URL
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7 January 2021
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Lack of evidence for association between the COMT locus and schizophrenia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
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The murine homologue of HIRA, a DiGeorge syndrome candidate gene, is expressed in embryonic structures affected in human CATCH22 patients.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
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DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
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7 January 2021
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Deletions within chromosome 22q11 in familial congenital heart disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
retrieved
7 January 2021
based on heuristic
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The human catechol-O-methyltransferase (COMT) gene maps to band q11.2 of chromosome 22 and shows a frequent RFLP with BglI
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
retrieved
7 January 2021
based on heuristic
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A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
retrieved
7 January 2021
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Requirement of CDC45 for postimplantation mouse development
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0736-5748%2802%2900050-3
retrieved
7 January 2021
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Identifiers
DOI
10.1016/S0736-5748(02)00050-3
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PubMed ID
12175881
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ResearchGate publication ID
11211121
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