Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays (Q36141110)

12 August 2017

Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays (English)

1 reference

12 August 2017

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2

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12 August 2017

Matteo Cassina

14

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Anna Gambin

object named as

Anna Gambin

20

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Pawel Stankiewicz

27

object named as

Paweł Stankiewicz

1 reference

12 August 2017

Andrey Shuvarikov

1

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12 August 2017

Piotr Dittwald

3

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12 August 2017

Nicholas J Neill

4

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12 August 2017

Martin G Bialer

5

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12 August 2017

Christine Moore

6

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12 August 2017

Patricia G Wheeler

7

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12 August 2017

Stephanie E Wallace

8

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12 August 2017

Mark C Hannibal

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12 August 2017

Michael F Murray

10

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12 August 2017

Monica A Giovanni

11

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12 August 2017

Deborah Terespolsky

12

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12 August 2017

Sandi Sodhi

13

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12 August 2017

David Viskochil

15

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12 August 2017

Billur Moghaddam

16

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12 August 2017

Kristin Herman

17

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12 August 2017

Chester W Brown

18

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12 August 2017

Christine R Beck

19

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12 August 2017

Sau Wai Cheung

21

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12 August 2017

Ankita Patel

22

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12 August 2017

Allen N Lamb

23

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12 August 2017

Lisa G Shaffer

24

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12 August 2017

Jay W Ellison

25

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12 August 2017

J Britt Ravnan

26

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12 August 2017

Jill A Rosenfeld

28

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12 August 2017

language of work or name

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13 August 2013

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12 August 2017

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12 August 2017

34

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12 August 2017

10

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12 August 2017

1415-1423

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NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Growth associated protein 43 is expressed in skeletal muscle fibers and is localized in proximity of mitochondria and calcium release units

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Estimates of penetrance for recurrent pathogenic copy-number variations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Mechanisms for recurrent and complex human genomic rearrangements

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Distinct acyl protein transferases and thioesterases control surface expression of calcium-activated potassium channels

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Cdon and Boc: Two transmembrane proteins implicated in cell-cell communication.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

A recurrent translocation is mediated by homologous recombination between HERV-H elements

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Targeting BK (big potassium) channels in epilepsy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

A copy number variation morbidity map of developmental delay

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

LINE-1 elements in structural variation and disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Overlapping roles and collective requirement for the coreceptors GAS1, CDO, and BOC in SHH pathway function

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Boc modifies the holoprosencephaly spectrum of Cdo mutant mice

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Resistance to change and vulnerability to stress: autistic-like features of GAP43-deficient mice.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Zbtb20 is essential for the specification of CA1 field identity in the developing hippocampus

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Structural variation in the human genome and its role in disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Mechanisms for human genomic rearrangements

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Rare chromosomal deletions and duplications increase risk of schizophrenia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Germline rates of de novo meiotic deletions and duplications causing several genomic disorders

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Hippocampus-like corticoneurogenesis induced by two isoforms of the BTB-zinc finger gene Zbtb20 in mice

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Boc is a receptor for sonic hedgehog in the guidance of commissural axons

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Patient with novel interstitial deletion of chromosome 3q13.1q13.3 and agenesis of the corpus callosum

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Processes of copy-number change in human DNA: the dynamics of {alpha}-globin gene deletion.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Segmental duplications and copy-number variation in the human genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Conversion of the modulatory actions of dopamine on spinal reflexes from depression to facilitation in D3 receptor knock-out mice

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Increase of the RNA-binding protein HuD and posttranscriptional up-regulation of the GAP-43 gene during spatial memory

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

HERVd: the Human Endogenous RetroViruses Database: update

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Mice lacking dopamine D2 and D3 receptors have spatial working memory deficits

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

BOC, an Ig superfamily member, associates with CDO to positively regulate myogenic differentiation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Growth-associated protein-43 is required for commissural axon guidance in the developing vertebrate nervous system

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Characterization of two novel nuclear BTB/POZ domain zinc finger isoforms. Association with differentiation of hippocampal neurons, cerebellar granule cells, and macroglia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Evidence for genomic rearrangements mediated by human endogenous retroviruses during primate evolution

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Initial sequencing and analysis of the human genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Enhanced learning after genetic overexpression of a brain growth protein

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Deletion of chromosome 3q proximal region gives rise to a variable phenotype

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

A targeted mutation of the D3 dopamine receptor gene is associated with hyperactivity in mice

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

A case of de novo interstitial deletion 3q

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Dependence of intrachromosomal recombination in mammalian cells on uninterrupted homology

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Molecular cloning and characterization of a novel dopamine receptor (D3) as a target for neuroleptics

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Boy with a chromosome del (3)(q12q23) and blepharophimosis syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Behavioral characterization in a comprehensive mouse test battery reveals motor and sensory impairments in growth-associated protein-43 null mutant mice

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

B-50/GAP-43 phosphorylation and PKC activity are increased in rat hippocampal synaptosomal membranes after an inhibitory avoidance training

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.

2 July 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22384

Origins and functional impact of copy number variation in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22384

Zbtb20 defines a hippocampal neuronal identity through direct repression of genes that control projection neuron development in the isocortex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22384

New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22384

HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22384

Congenital arhinia: molecular-genetic analysis of five patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22384

A de novo 1.9-Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22384

Germ-line DNA copy number variation frequencies in a large North American population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22384

Identification of genomic loci contributing to agenesis of the corpus callosum

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

GAP-43 is critical for normal development of the serotonergic innervation in forebrain.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599348

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

23 September 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22384

Deletion of the proximal long arm of chromosome 3 in an infant with features of Turner syndrome

21 January 2018

1 reference

12 December 2020

Delineation of the proximal 3q microdeletion syndrome

1 reference

12 December 2020

OEIS complex with del(3)(q12.2q13.2)

1 reference

12 December 2020

Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events

1 reference

12 December 2020

Congenital arhinia with de novo reciprocal translocation, t(3;12)(q13.2;p11.2)

1 reference

12 December 2020

Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses

1 reference

12 December 2020

Identifiers

DOI

10.1002/HUMU.22384

1 reference

12 August 2017

1 reference

12 August 2017

PubMed publication ID

23878096

1 reference