(Q34873887)

5 August 2017

Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes (English)

1 reference

5 August 2017

Roberto Mendoza-Londono

object named as

Roberto Mendoza-Londono

12

0 references

author name string

Jill A Rosenfeld

1

1 reference

5 August 2017

Lindsey E Stephens

2

1 reference

5 August 2017

Justine Coppinger

3

1 reference

5 August 2017

Blake C Ballif

4

1 reference

5 August 2017

Joe J Hoo

5

1 reference

5 August 2017

Beatrice N French

6

1 reference

5 August 2017

Valerie C Banks

7

1 reference

5 August 2017

Wendy E Smith

8

1 reference

5 August 2017

David Manchester

9

1 reference

5 August 2017

Anne Chun-Hui Tsai

10

1 reference

5 August 2017

Katrina Merrion

11

1 reference

5 August 2017

Lucie Dupuis

13

1 reference

5 August 2017

Roger Schultz

14

1 reference

5 August 2017

Beth Torchia

15

1 reference

5 August 2017

Trilochan Sahoo

16

1 reference

5 August 2017

Bassem Bejjani

17

1 reference

5 August 2017

David D Weaver

18

1 reference

5 August 2017

Lisa G Shaffer

19

1 reference

5 August 2017

language of work or name

1 reference

19 January 2011

1 reference

European Journal of Human Genetics

5 August 2017

1 reference

5 August 2017

19

1 reference

5 August 2017

5

1 reference

5 August 2017

547-554

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2010.237

5 August 2017

0 references

cites work

Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083619

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083619

Delineation of 15q13.3 microdeletions.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083619

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083619

Microduplications of 16p11.2 are associated with schizophrenia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083619

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083619

A 2-base pair deletion polymorphism in the partial duplication of the alpha7 nicotinic acetylcholine gene (CHRFAM7A) on chromosome 15q14 is associated with schizophrenia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083619

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083619

Duplication hotspots, rare genomic disorders, and common disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083619

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083619

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083619

Interaction of Mint2 with TrkA is involved in regulation of nerve growth factor-induced neurite outgrowth

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083619

Support for the involvement of large copy number variants in the pathogenesis of schizophrenia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083619

Population analysis of large copy number variants and hotspots of human genetic disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083619

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083619

A 15q13.3 microdeletion segregating with autism

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083619

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083619

Common inversion polymorphisms and rare microdeletions at 15q13.3.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083619

X11 proteins regulate the translocation of amyloid beta-protein precursor (APP) into detergent-resistant membrane and suppress the amyloidogenic cleavage of APP by beta-site-cleaving enzyme in brain

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083619

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083619

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083619

The copy number variant involving part of the alpha7 nicotinic receptor gene contains a polymorphic inversion

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083619

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083619

Organization of multiprotein complexes at cell-cell junctions

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083619

Deficiency of zonula occludens-1 causes embryonic lethal phenotype associated with defected yolk sac angiogenesis and apoptosis of embryonic cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083619

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083619

Identification of the proteins, including MAGEG1, that make up the human SMC5-6 protein complex

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083619

Copy-number variation in control population cohorts

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083619

Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083619

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083619

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083619

High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083619

A 3-Mb map of a large Segmental duplication overlapping the alpha7-nicotinic acetylcholine receptor gene (CHRNA7) at human 15q13-q14

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083619

A necdin/MAGE-like gene in the chromosome 15 autism susceptibility region: expression, imprinting, and mapping of the human and mouse orthologues

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083619

Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083619

Mints, Munc18-interacting proteins in synaptic vesicle exocytosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083619

Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083619

Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents

8 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.237

Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.237

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.237

Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.237

X11-like protein deficiency is associated with impaired conflict resolution in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.237

Association between a genetic variant of the alpha-7 nicotinic acetylcholine receptor subunit and four types of dementia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.237

Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.237

Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.237

Identification, tissue distribution and developmental expression of tjp1/zo-1, tjp2/zo-2 and tjp3/zo-3 in the zebrafish, Danio rerio

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.237

Association study of CHRFAM7A copy number and 2bp deletion polymorphisms with schizophrenia and bipolar affective disorder

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21248749

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21248749

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2010.237

1 reference

Dimensions Publication ID

5 August 2017

0 references

1 reference

5 August 2017

1 reference