(Q34980750)

English

Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance.

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12724422%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12724422%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Otto Hannes Vogel

7

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3 November 2019

Jeffrey L. Noebels

8

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3 November 2019

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Katherina Walz

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Europe PubMed Central

3 November 2019

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James R. Lupski

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James R Lupski

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3 November 2019

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Allan Bradley

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Sandra Caratini-Rivera

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3 November 2019

Weimin Bi

3

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3 November 2019

Patricia Fonseca

4

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Europe PubMed Central

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3 November 2019

Dena L Mansouri

5

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12724422%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Jennifer Lynch

6

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3 November 2019

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1 May 2003

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3 November 2019

Molecular and Cellular Biology

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12724422%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

23

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Europe PubMed Central

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3 November 2019

10

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Europe PubMed Central

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3 November 2019

3646-3655

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12724422%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=154242

8 July 2018

Molecular mechanisms for genomic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=154242

8 July 2018

Molecular-evolutionary mechanisms for genomic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=154242

8 July 2018

Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=154242

8 July 2018

Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=154242

8 July 2018

Fliih, a gelsolin-related cytoskeletal regulator essential for early mammalian embryonic development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=154242

8 July 2018

Genome architecture, rearrangements and genomic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=154242

8 July 2018

Engineering chromosomal rearrangements in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=154242

8 July 2018

From mouse to man: generating megabase chromosome rearrangements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=154242

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=154242

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=154242

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=154242

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=154242

8 July 2018

The face of Smith-Magenis syndrome: a subjective and objective study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=154242

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=154242

8 July 2018

Embryonic lethality and tumorigenesis caused by segmental aneuploidy on mouse chromosome 11.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=154242

8 July 2018

Cloning, genomic structure, and expression of mouse ring finger protein gene Znf179.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=154242

8 July 2018

Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=154242

8 July 2018

Mammalian DNA topoisomerase IIIalpha is essential in early embryogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=154242

8 July 2018

Disruption of the murine gene encoding phosphatidylethanolamine N-methyltransferase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=154242

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=154242

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=154242

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=154242

8 July 2018

Molecular cloning and functional expression of cDNA encoding a second class of inward rectifier potassium channels in the mouse brain.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=154242

8 July 2018

Chromosome engineering in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=154242

8 July 2018

Differential staining of cartilage and bone in whole mouse fetuses by alcian blue and alizarin red S.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=154242

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=154242

8 July 2018

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=154242

8 July 2018

Alpha-inhibin is a tumour-suppressor gene with gonadal specificity in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=154242

8 July 2018

Inherited epilepsy: spike-wave and focal motor seizures in the mutant mouse tottering

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=154242

8 July 2018

Parallels of craniofacial maldevelopment in Down syndrome and Ts65Dn mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=154242

26 October 2018

Gene targeting in embryonic stem cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/12724422

12 December 2020

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inferred from PubMed ID database lookup

Mapping human YAC clones by fluorescence in situ hybridization using Alu-PCR from single yeast colonies

1 reference

https://pubmed.ncbi.nlm.nih.gov/12724422

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12724422

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital heart disease in mice deficient for the DiGeorge syndrome region

1 reference

https://pubmed.ncbi.nlm.nih.gov/12724422

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Activation and accumulation of B cells in TACI-deficient mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/12724422

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1128/MCB.23.10.3646-3655.2003

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12724422%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

PMC publication ID

1 reference

Europe PubMed Central

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3 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

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3 November 2019

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