Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15 (Q21283782)

18 August 2022

Nicholas J Wang

1

Nicholas J

Wang

1 reference

18 August 2022

Alexander S Parokonny

2

Alexander S

Parokonny

1 reference

18 August 2022

Karen N Thatcher

3

Karen N

Thatcher

1 reference

18 August 2022

Jennette Driscoll

4

Jennette

Driscoll

1 reference

18 August 2022

Barbara M Malone

5

Barbara M

Malone

1 reference

18 August 2022

Naghmeh Dorrani

6

Naghmeh

Dorrani

1 reference

18 August 2022

Janine M LaSalle

8

Janine M

LaSalle

1 reference

18 August 2022

N Carolyn Schanen

9

N Carolyn

Schanen

1 reference

describes a project that uses

18 August 2022

language of work or name

English

0 references

publication date

2008

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published in

BMC Genetics

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volume

9

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issue

1

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page(s)

2

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ImageQuant

object named as

ImageQuant

2 references

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2249863/fullTextXML

inferred from PubMed Central ID database lookup

CZ Software Mentions: A large dataset of software mentions in the biomedical literature

cites work

Structure of the highly conserved HERC2 gene and of multiple partially duplicated paralogs in human

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2249863

The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2249863

Autism or atypical autism in maternally but not paternally derived proximal 15q duplication

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2249863

Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2249863

Autism diagnostic observation schedule: a standardized observation of communicative and social behavior

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2249863

Homologous pairing of 15q11-13 imprinted domains in brain is developmentally regulated but deficient in Rett and autism samples

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2249863

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2249863

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2249863

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2249863

The mechanisms involved in formation of deletions and duplications of 15q11-q13.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2249863

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2249863

Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2249863

Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11- q13 duplications

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2249863

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2249863

The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2249863

Sex-specific meiotic recombination in the Prader--Willi/Angelman syndrome imprinted region

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18177502

12 December 2020

inferred from PubMed ID database lookup

Homologous association of oppositely imprinted chromosomal domains

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18177502

12 December 2020

inferred from PubMed ID database lookup

Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18177502

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1186/1471-2156-9-2

0 references