(Q42117831)

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15 February 2020

title

Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia (English)

1 reference

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15 February 2020

1 reference

9

1 reference

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15 February 2020

author name string

Christian P Schaaf

1

1 reference

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15 February 2020

Robin P Goin-Kochel

2

1 reference

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15 February 2020

Kerri P Nowell

3

1 reference

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15 February 2020

Jill V Hunter

4

1 reference

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15 February 2020

Kirk A Aleck

5

1 reference

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15 February 2020

Sarah Cox

6

1 reference

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15 February 2020

Ankita Patel

7

1 reference

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15 February 2020

Carlos A Bacino

8

1 reference

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15 February 2020

publication date

20 October 2010

1 reference

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European Journal of Human Genetics

15 February 2020

published in

1 reference

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15 February 2020

volume

19

1 reference

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15 February 2020

issue

2

1 reference

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15 February 2020

page(s)

152-156

1 reference

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Review Article: Chiari Type I Malformation with or Without Syringomyelia: Prevalence and Genetics

15 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025795

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025795

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025795

Microduplications of 16p11.2 are associated with schizophrenia

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025795

Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025795

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025795

Association between microdeletion and microduplication at 16p11.2 and autism

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025795

Recurrent 16p11.2 microdeletions in autism

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025795

Familial syringomyelia: case report and review of the literature

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025795

A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025795

A genetic hypothesis for Chiari I malformation with or without syringomyelia

17 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20959866

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Phenotypic definition of Chiari type I malformation coupled with high-density SNP genome screen shows significant evidence for linkage to regions on chromosomes 9 and 15

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20959866

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2010.168

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20959866%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

15 February 2020

1037442921

0 references

Fatcat ID

release_i2dm6day4ngwpp4bh7wrjtdfii

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/i2dm6day4ngwpp4bh7wrjtdfii

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

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15 February 2020

PubMed publication ID

20959866

1 reference