(Q28206335)

7 January 2021

Progress in the autosomal segmental aneusomy syndromes (SASs): single or multi-locus disorders?

1 reference

7 January 2021

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

1 reference

7 January 2021

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

1 reference

7 January 2021

UBE3A/E6-AP mutations cause Angelman syndrome

1 reference

7 January 2021

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.

1 reference

7 January 2021

LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition

1 reference

7 January 2021

A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7.

1 reference

7 January 2021

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

1 reference

7 January 2021

Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome

1 reference

7 January 2021

Familial DiGeorge syndrome and associated partial monosomy of chromosome 22

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7 January 2021

Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus

1 reference

7 January 2021

Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome

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7 January 2021

Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11

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7 January 2021

The 22q11 deletion syndromes

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7 January 2021

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study

1 reference

7 January 2021

The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients

1 reference

7 January 2021

Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions

1 reference

7 January 2021

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

1 reference

7 January 2021

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

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7 January 2021

Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11.

1 reference

7 January 2021

Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization.

1 reference

7 January 2021

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

1 reference

7 January 2021

The DNA sequence of human chromosome 22

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7 January 2021

A common molecular basis for rearrangement disorders on chromosome 22q11

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7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

A cellular oncogene is translocated to the Philadelphia chromosome in chronic myelocytic leukaemia

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7 January 2021

The second case of a t(17;22) in a family with neurofibromatosis type 1: sequence analysis of the breakpoint regions

1 reference

7 January 2021

A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK

1 reference

7 January 2021

A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23

1 reference

7 January 2021

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

1 reference

7 January 2021

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

1 reference

7 January 2021

Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints

1 reference

7 January 2021

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

1 reference

7 January 2021

Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies

1 reference

7 January 2021

Segmental duplications: organization and impact within the current human genome project assembly

1 reference

7 January 2021

Initial sequencing and analysis of the human genome

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7 January 2021

DiGeorge syndrome and 22q11 rearrangements

1 reference

7 January 2021

Another critical region for deletion of 22q11: a study of 100 patients.

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

A novel 22q11.2 microdeletion in DiGeorge syndrome

1 reference

7 January 2021

A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects

1 reference

7 January 2021

A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11.

1 reference

7 January 2021

Comparative mapping of the DiGeorge syndrome region in mouse shows inconsistent gene order and differential degree of gene conservation.

1 reference

7 January 2021

Cloning and comparative mapping of the DiGeorge syndrome critical region in the mouse.

1 reference

7 January 2021

Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Normal cardiovascular development in mice deficient for 16 genes in 550 kb of the velocardiofacial/DiGeorge syndrome region

1 reference

7 January 2021

Catechol-O-methyltransferase-deficient mice exhibit sexually dimorphic changes in catecholamine levels and behavior

1 reference

7 January 2021

Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice

1 reference

7 January 2021

TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome

1 reference

7 January 2021

Genetic factors are major determinants of phenotypic variability in a mouse model of the DiGeorge/del22q11 syndromes

1 reference

7 January 2021

Expression of the T-box family genes, Tbx1-Tbx5, during early mouse development.

1 reference

7 January 2021

DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1

1 reference

7 January 2021

Familial third-fourth pharyngeal pouch syndrome with apparent autosomal dominant transmission

1 reference

7 January 2021

The endoderm plays an important role in patterning the segmented pharyngeal region in zebrafish (Danio rerio).

1 reference

7 January 2021

Notochord patterning of the endoderm.

1 reference

7 January 2021

Alteration of early vascular development after ablation of cranial neural crest

1 reference

7 January 2021

Pharyngeal arch patterning in the absence of neural crest.

1 reference

7 January 2021

Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor.

1 reference

7 January 2021

Pathogenesis of persistent truncus arteriosus and dextroposed aorta in the chick embryo after neural crest ablation

1 reference

7 January 2021

Dependence of thymus development on derivatives of the neural crest

1 reference

7 January 2021

Tbx1, a DiGeorge syndrome candidate gene, is regulated by sonic hedgehog during pharyngeal arch development

1 reference

7 January 2021

Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene

1 reference

7 January 2021

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

1 reference

7 January 2021

Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.

1 reference

7 January 2021

Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome

1 reference

7 January 2021

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

1 reference

7 January 2021

Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region

1 reference

7 January 2021

Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2-5

1 reference

7 January 2021

Mouse models for the Wolf-Hirschhorn deletion syndrome

1 reference

7 January 2021

A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse

1 reference

7 January 2021

Genome-wide, large-scale production of mutant mice by ENU mutagenesis.

1 reference

7 January 2021

Disruption and sequence identification of 2,000 genes in mouse embryonic stem cells

1 reference

7 January 2021

Using targeted large deletions and high-efficiency N-ethyl-N-nitrosourea mutagenesis for functional analyses of the mammalian genome

1 reference

7 January 2021

Chromosomal deletion complexes in mice by radiation of embryonic stem cells

1 reference

7 January 2021

Chromosome engineering in mice

1 reference

7 January 2021

A site-directed chromosomal translocation induced in embryonic stem cells by Cre-loxP recombination.

1 reference

7 January 2021

A system for rapid generation of coat color-tagged knockouts and defined chromosomal rearrangements in mice

1 reference

7 January 2021

Engineering a mouse balancer chromosome

1 reference

7 January 2021

Nested chromosomal deletions induced with retroviral vectors in mice.

1 reference

7 January 2021

Interdigitated deletion complexes on mouse chromosome 5 induced by irradiation of embryonic stem cells

1 reference

7 January 2021

Engineering chromosomal rearrangements in mice

1 reference

7 January 2021

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

1 reference

7 January 2021

Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes

1 reference

7 January 2021

The gene encoding proline dehydrogenase modulates sensorimotor gating in mice

1 reference

7 January 2021

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

7 January 2021

Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene

1 reference

7 January 2021

Cloning and comparative mapping of a gene from the commonly deleted region of DiGeorge and Velocardiofacial syndromes conserved in C. elegans

1 reference

7 January 2021

Localization of the human mitochondrial citrate transporter protein gene to chromosome 22Q11 in the DiGeorge syndrome critical region

1 reference

7 January 2021

Isolation of a new clathrin heavy chain gene with muscle-specific expression from the region commonly deleted in velo-cardio-facial syndrome

1 reference

7 January 2021

Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease

1 reference

7 January 2021

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

7 January 2021

UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome

1 reference

7 January 2021

The human homolog of Saccharomyces cerevisiae CDC45

1 reference

7 January 2021

Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome

1 reference

7 January 2021

Alternative expression of platelet glycoprotein Ib(beta) mRNA from an adjacent 5' gene with an imperfect polyadenylation signal sequence

1 reference

7 January 2021

Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2.

1 reference

7 January 2021

Isolation and characterization of a novel gene containing WD40 repeats from the region deleted in velo-cardio-facial/DiGeorge syndrome on chromosome 22q11.

1 reference

7 January 2021

Human mitochondrial thioredoxin reductase cDNA cloning, expression and genomic organization

1 reference

7 January 2021

Chromosomal mapping of the human catechol-O-methyltransferase gene to 22q11.1----q11.2

1 reference

7 January 2021

The human catechol-O-methyltransferase (COMT) gene maps to band q11.2 of chromosome 22 and shows a frequent RFLP with BglI

1 reference

7 January 2021

Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome.

1 reference

7 January 2021

Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome

1 reference

7 January 2021

Isolation and characterization of a novel gene deleted in DiGeorge syndrome

1 reference

7 January 2021

Identifiers

DOI

10.1038/35098574

1 reference

Consolidated OpenCitations Corpus – April 2017

Dimensions Publication ID

1817396

1009040880

0 references

1817396

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference