Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype (Q42617899)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21373257%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

title

Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype (English)

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24 January 2020

3

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24 January 2020

Emilio Franzoni

7

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24 January 2020

Laura Mazzanti

8

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24 January 2020

Orsetta Zuffardi

10

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24 January 2020

Marco Seri

11

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24 January 2020

author name string

A Wischmeijer

1

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24 January 2020

P Magini

2

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24 January 2020

M Gnoli

4

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24 January 2020

R Ciccone

5

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24 January 2020

L Cecconi

6

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24 January 2020

G Romeo

9

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24 January 2020

publication date

25 November 2010

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24 January 2020

published in

Molecular syndromology

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24 January 2020

volume

1

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issue

4

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24 January 2020

page(s)

176-184

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Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

24 January 2020

cites work

1 reference

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Copy number variation in human health, disease, and evolution

27 May 2018

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Mechanisms of change in gene copy number

27 May 2018

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A synaptic trek to autism

27 May 2018

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Shank1 mRNA: dendritic transport by kinesin and translational control by the 5'untranslated region

27 May 2018

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Characterization of six human disease-associated inversion polymorphisms

27 May 2018

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Regulation of dendritic spine morphology by SPIN90, a novel Shank binding partner.

27 May 2018

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27 May 2018

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Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome)

27 May 2018

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A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

27 May 2018

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SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma

27 May 2018

1 reference

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Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

27 May 2018

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Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

27 May 2018

1 reference

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SH2-containing 5'-inositol phosphatase, SHIP2, regulates cytoskeleton organization and ligand-dependent down-regulation of the epidermal growth factor receptor

27 May 2018

1 reference

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The cleft lip and palate defects in Dancer mutant mice result from gain of function of the Tbx10 gene

27 May 2018

1 reference

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MAVID: constrained ancestral alignment of multiple sequences

27 May 2018

1 reference

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Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation

27 May 2018

1 reference

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Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements

27 May 2018

1 reference

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PipMaker--a web server for aligning two genomic DNA sequences

27 May 2018

1 reference

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Structure and expression of a novel human FGF, FGF-19, expressed in the fetal brain

27 May 2018

1 reference

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Mechanisms of nonhomologous recombination in mammalian cells

27 May 2018

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Galanin: a hypothalamic-hypophysiotropic hormone modulating reproductive functions

27 May 2018

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Synaptogenesis of hippocampal neurons in primary cell culture

27 May 2018

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Novel de novo SHANK3 mutation in autistic patients

16 August 2018

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Identification of an ectodomain within the LAR protein tyrosine phosphatase receptor that binds homophilically and activates signalling pathways promoting neurite outgrowth

16 August 2018

1 reference

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The two isoforms of the Caenorhabditis elegans leukocyte-common antigen related receptor tyrosine phosphatase PTP-3 function independently in axon guidance and synapse formation.

16 August 2018

1 reference

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Shank expression is sufficient to induce functional dendritic spine synapses in aspiny neurons.

16 August 2018

1 reference

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The SH2 domain-containing 5-phosphatase SHIP2 is expressed in the germinal layers of embryo and adult mouse brain: increased expression in N-CAM-deficient mice

16 August 2018

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Reciprocal translocation associated with multiple exostoses in seven members of a three generation family and discovered through an infertile male

16 August 2018

1 reference

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

1 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21373257

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21373257

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1159/000322054

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21373257%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

1 reference

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24 January 2020

1 reference