(Q34705135)

4 August 2017

title

Phenotypic manifestations of copy number variation in chromosome 16p13.11. (English)

1 reference

4 August 2017

15

Pawel Stankiewicz

1 reference

4 August 2017

6

Fernando Scaglia

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4 August 2017

16

Ankita Patel

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4 August 2017

author name string

Sandesh C Sreenath Nagamani

1

1 reference

4 August 2017

Ayelet Erez

2

1 reference

4 August 2017

Patricia Bader

3

1 reference

4 August 2017

Seema R Lalani

4

1 reference

4 August 2017

Daryl A Scott

5

1 reference

4 August 2017

Sharon E Plon

7

1 reference

4 August 2017

Chun-Hui Tsai

8

1 reference

4 August 2017

Tyler Reimschisel

9

1 reference

4 August 2017

Elizabeth Roeder

10

1 reference

4 August 2017

Amy D Malphrus

11

1 reference

4 August 2017

Patricia A Eng

12

1 reference

4 August 2017

Patricia M Hixson

13

1 reference

4 August 2017

Sung-Hae L Kang

14

1 reference

4 August 2017

Sau Wai Cheung

17

1 reference

4 August 2017

publication date

8 December 2010

1 reference

European Journal of Human Genetics

4 August 2017

published in

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4 August 2017

volume

19

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4 August 2017

issue

3

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4 August 2017

page(s)

280-286

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Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

4 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061988

Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061988

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061988

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061988

Copy number variation in schizophrenia in the Japanese population

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061988

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061988

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061988

Copy number variations of chromosome 16p13.1 region associated with schizophrenia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061988

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061988

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061988

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061988

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061988

Increased LIS1 expression affects human and mouse brain development

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061988

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061988

Failure of neuronal homeostasis results in common neuropsychiatric phenotypes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061988

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061988

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061988

Characterization of a recurrent 15q24 microdeletion syndrome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061988

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061988

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061988

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061988

The sequence and analysis of duplication-rich human chromosome 16

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061988

Mitotic spindle regulation by Nde1 controls cerebral cortical size

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061988

Detection of large-scale variation in the human genome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061988

Large-scale copy number polymorphism in the human genome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061988

Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061988

Altered activity, social behavior, and spatial memory in mice lacking the NTAN1p amidase and the asparagine branch of the N-end rule pathway

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061988

Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061988

Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061988

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

7 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.184

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.184

Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.184

Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.184

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21150890

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2010.184

1 reference

4 August 2017

1 reference

4 August 2017

1 reference