(Q41936282)

14 October 2017

title

Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants (English)

1 reference

14 October 2017

Feng Zhang

2

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James R. Lupski

series ordinal

8

object named as

James R Lupski

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14 October 2017

1

Ayman W El-Hattab

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14 October 2017

7

Fernando Scaglia

1 reference

14 October 2017

9

Sau Wai Cheung

1 reference

14 October 2017

6

Stacy Hines-Dowell

1 reference

14 October 2017

Rolanda Maxim

3

1 reference

14 October 2017

Katherine M Christensen

series ordinal

4

1 reference

14 October 2017

Jewell C Ward

series ordinal

5

1 reference

14 October 2017

language of work or name

English

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publication date

1 September 2010

1 reference

14 October 2017

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14 October 2017

volume

12

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14 October 2017

issue

9

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14 October 2017

page(s)

573-586

1 reference

https://scigraph.springernature.com/pub.10.1097/gim.0b013e3181eb9b4a

14 October 2017

exact match

0 references

cites work

Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181EB9B4A

Novel microdeletion syndromes detected by chromosome microarrays

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181EB9B4A

Duplication hotspots, rare genomic disorders, and common disease

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181EB9B4A

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181EB9B4A

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181EB9B4A

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181EB9B4A

Characterization of a recurrent 15q24 microdeletion syndrome.

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181EB9B4A

A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181EB9B4A

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181EB9B4A

Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.

21 January 2018

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

21 January 2018

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Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

21 January 2018

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Increased LIS1 expression affects human and mouse brain development

21 January 2018

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Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181EB9B4A

Mechanisms for human genomic rearrangements

21 January 2018

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The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

21 January 2018

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A microhomology-mediated break-induced replication model for the origin of human copy number variation

21 January 2018

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Mechanisms of change in gene copy number

21 January 2018

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A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

21 January 2018

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Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome

21 January 2018

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Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array-CGH.

21 January 2018

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Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

21 January 2018

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Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH.

21 January 2018

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DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome

21 January 2018

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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

21 January 2018

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Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

21 January 2018

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Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement

21 January 2018

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Heterozygous Mutation in the Cholesterol Side Chain Cleavage Enzyme (P450scc) Gene in a Patient with 46,XY Sex Reversal and Adrenal Insufficiency

21 January 2018

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Semaphorin 7A promotes axon outgrowth through integrins and MAPKs

21 January 2018

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Structurally and functionally unique complexins at retinal ribbon synapses

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181EB9B4A

ARID proteins come in from the desert

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181EB9B4A

Microarray analysis of PDGFR alpha+ populations in ES cell differentiation culture identifies genes involved in differentiation of mesoderm and mesenchyme including ARID3b that is essential for development of embryonic mesenchymal cells

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181EB9B4A

A membrane receptor for retinol binding protein mediates cellular uptake of vitamin A

21 January 2018

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Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

21 January 2018

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Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6

21 January 2018

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Identification and characterization of three new components of the mSin3A corepressor complex

21 January 2018

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KAP-1, a novel corepressor for the highly conserved KRAB repression domain

21 January 2018

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Targeting histone deacetylase complexes via KRAB-zinc finger proteins: the PHD and bromodomains of KAP-1 form a cooperative unit that recruits a novel isoform of the Mi-2alpha subunit of NuRD

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SETDB1: a novel KAP-1-associated histone H3, lysine 9-specific methyltransferase that contributes to HP1-mediated silencing of euchromatic genes by KRAB zinc-finger proteins

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ZBP-89 promotes growth arrest through stabilization of p53

21 January 2018

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Plexin-neuropilin-1 complexes form functional semaphorin-3A receptors

21 January 2018

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Semaphorin 3A is a chemoattractant for cortical apical dendrites.

21 January 2018

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21 January 2018

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Local translation of RhoA regulates growth cone collapse

21 January 2018

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Kalirin expression is regulated by multiple promoters

21 January 2018

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21 January 2018

1 reference

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Kalirin-7 is an essential component of both shaft and spine excitatory synapses in hippocampal interneurons

21 January 2018

1 reference

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Structure, dynamics and functions of promyelocytic leukaemia nuclear bodies

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21 January 2018

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21 January 2018

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10.1097/GIM.0B013E3181EB9B4A

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

14 October 2017

1015050245

0 references

1 reference