(Q28200709)

English

Genomic organisation of the approximately 1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis

scientific article (publication date: December 2001)

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840190%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

Genomic organisation of the approximately 1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840190%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

Smith-Magenis syndrome

1 reference

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inferred from title

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840190%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

author name string

Lucas RE

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840190%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

Vlangos CN

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840190%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

Das P

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840190%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

Elsea SH

5

1 reference

Europe PubMed Central

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7 December 2019

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publication date

1 December 2001

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Europe PubMed Central

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7 December 2019

European Journal of Human Genetics

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840190%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

9

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840190%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

12

1 reference

Europe PubMed Central

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7 December 2019

892-902

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840190%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

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

1 reference

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7 January 2021

based on heuristic

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Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome.

1 reference

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7 January 2021

based on heuristic

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Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Five cases demonstrating the distinctive behavioural features of chromosome deletion 17(p11.2 p11.2) (Smith-Magenis syndrome).

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Definition of the critical interval for Smith-Magenis syndrome

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Apparent mosaicism for del(17)(p11.2) ruled out by fluorescence in situ hybridization in a Smith-Magenis syndrome patient

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Smith-Magenis syndrome deletion: a case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Contiguous gene syndromes: a component of recognizable syndromes

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Structure of chromosomal duplicons and their role in mediating human genomic disorders

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200734

7 January 2021

based on heuristic

inferred from DOI database lookup

High-resolution deletion mapping of chromosome arm 17p in childhood primitive neuroectodermal tumors reveals a common chromosomal disruption within the Smith-Magenis region, an unstable region in chromosome band 17p11.2.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200734

7 January 2021

based on heuristic

inferred from DOI database lookup

Transcription mapping in a medulloblastoma breakpoint interval and Smith-Magenis syndrome candidate region: identification of 53 transcriptional units and new candidate genes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200734

7 January 2021

based on heuristic

inferred from DOI database lookup

The human homologue of the murine Llglh gene (LLGL) maps within the Smith-Magenis syndrome region in 17p11.2

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200734

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of three novel cDNAs for human phosphatidylethanolamine N-methyltransferase and localization of the human gene on chromosome 17p11.2

1 reference

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7 January 2021

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Human TOP3: a single-copy gene encoding DNA topoisomerase III

1 reference

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7 January 2021

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Overexpression of a truncated human topoisomerase III partially corrects multiple aspects of the ataxia-telangiectasia phenotype

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200734

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200734

7 January 2021

based on heuristic

inferred from DOI database lookup

Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200734

7 January 2021

based on heuristic

inferred from DOI database lookup

Hemizygosity for the COP9 signalosome subunit gene, SGN3, in the Smith-Magenis syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200734

7 January 2021

based on heuristic

inferred from DOI database lookup

Subunit 3 of the COP9 signal transduction complex is conserved from plants to humans and maps within the smith-magenis syndrome critical region in 17p11.2

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200734

7 January 2021

based on heuristic

inferred from DOI database lookup

Assignment of developmentally regulated GTP-binding protein (DRG2) to human chromosome band 17p11.2 with somatic cell hybrids and localization to the Smith-Magenis syndrome critical interval.

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

A deoxyribonucleotidase in mitochondria: involvement in regulation of dNTP pools and possible link to genetic disease

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Genomic structure, evolution, and expression of human FLII, a gelsolin and leucine-rich-repeat family member: overlap with LLGL

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Physical mapping of chromosome 17 cosmids by fluorescence in situ hybridization and digital image analysis

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Distribution and early development of microarray technology in Europe

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200734

7 January 2021

based on heuristic

inferred from DOI database lookup

Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200734

7 January 2021

based on heuristic

inferred from DOI database lookup

Mammalian DNA topoisomerase IIIalpha is essential in early embryogenesis

1 reference

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7 January 2021

based on heuristic

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Elevated levels of SREBP-2 and cholesterol synthesis in livers of mice homozygous for a targeted disruption of the SREBP-1 gene

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Gelsolin, a multifunctional actin regulatory protein

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

The Drosophila melanogaster flightless-I gene involved in gastrulation and muscle degeneration encodes gelsolin-like and leucine-rich repeat domains and is conserved in Caenorhabditis elegans and humans

1 reference

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7 January 2021

based on heuristic

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Identification of the binding partners for flightless I, A novel protein bridging the leucine-rich repeat and the gelsolin superfamilies

1 reference

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7 January 2021

based on heuristic

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Fliih, the murine homologue of the Drosophila melanogaster flightless I gene: nucleotide sequence, chromosomal mapping and overlap with Llglh

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Expression of DRG during murine embryonic development

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

DRG: a novel developmentally regulated GTP-binding protein

1 reference

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7 January 2021

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Cloning of a retinoic acid-induced gene, GT1, in the embryonal carcinoma cell line P19: neuron-specific expression in the mouse brain

1 reference

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7 January 2021

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CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2)

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

RAI1 is a novel polyglutamine encoding gene that is deleted in Smith-Magenis syndrome patients

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic screens in yeast to identify mammalian nonreceptor modulators of G-protein signaling

1 reference

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7 January 2021

based on heuristic

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Activation of heterotrimeric G-protein signaling by a ras-related protein. Implications for signal integration

1 reference

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7 January 2021

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Dexamethasone rapidly induces a novel ras superfamily member-related gene in AtT-20 cells

1 reference

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7 January 2021

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Cloning, expression and characterization of a novel human Ras-related protein that is regulated by glucocorticoid hormone

1 reference

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7 January 2021

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Dexras1: a G protein specifically coupled to neuronal nitric oxide synthase via CAPON

1 reference

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7 January 2021

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Identification of thymidine nucleotidase and deoxyribonucleotidase activities among normal isozymes of 5'-nucleotidase in human erythrocytes

1 reference

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7 January 2021

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Initial sequencing and analysis of the human genome

1 reference

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

1 reference

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7 January 2021

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1 reference

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7 January 2021

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1 reference

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7 January 2021

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1 reference

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7 January 2021

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