(Q41956312)

English

Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report

scientific article published on 18 December 2009

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report (English)

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

0 references

6

object named as

Marian Sigman

1 reference

Europe PubMed Central

14 October 2017

PMC publication ID

author name string

David J Wu

1

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

Nicholas J Wang

2

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

Jennette Driscoll

3

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

Naghmeh Dorrani

4

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

Dahai Liu

5

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

N Carolyn Schanen

7

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

publication date

18 December 2009

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

Molecular Cytogenetics

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

2

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

27

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

https://scigraph.springernature.com/pub.10.1186/1755-8166-2-27

0 references

Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2803171

5 June 2018

The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2803171

5 June 2018

Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2803171

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2803171

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2803171

5 June 2018

Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2803171

5 June 2018

A novel MSP/DHPLC method for the investigation of the methylation status of imprinted genes enables the molecular detection of low cell mosaicisms.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2803171

5 June 2018

Double partial trisomy 9q34.1-->qter and 21pter-->q22.11: FISH and clinical findings

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2803171

5 June 2018

Methylation-specific PCR simplifies imprinting analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2803171

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2803171

5 June 2018

Molecular cytogenetic studies of duplication 9q32-->q34.3 inserted into 9q13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2803171

5 June 2018

Duplication 9q34-->qter identified by chromosome painting

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2803171

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2803171

5 June 2018

Nonverbal communication and early language acquisition in children with Down syndrome and in normally developing children.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2803171

5 June 2018

Duplication 9q34 syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2803171

5 June 2018

Diagnostic uses of the Vineland Adaptive Behavior Scales

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2803171

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2803171

5 June 2018

A 400kb duplication, 2.4Mb triplication and 130kb duplication of 9q34.3 in a patient with severe mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2803171

18 August 2018

Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2803171

18 August 2018

A paternally inherited duplication in the Prader-Willi/Angelman syndrome critical region: a case and family study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2803171

18 August 2018

Paternally derived de novo interstitial duplication of proximal 15q in a patient with developmental delay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2803171

18 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2803171

18 August 2018

Mosaic paternally derived inv dup(15) may partially rescue the Prader-Willi syndrome phenotype with uniparental disomy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2803171

2 December 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20021661

12 December 2020

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10.1186/1755-8166-2-27

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

Dimensions Publication ID

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PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

ResearchGate publication ID

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