(Q30010108)

21 May 2017

0 references

Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype? (English)

1 reference

21 May 2017

1 reference

1 reference

5

0 references

Marjolein H Willemsen

series ordinal

3

object named as

Marjolein H Willemsen

1 reference

21 May 2017

Willem Ma Verhoeven

1

1 reference

PubMed ID

22570549

21 May 2017

Jos Im Egger

series ordinal

2

1 reference

PubMed ID

22570549

21 May 2017

Gert Jm de Leijer

series ordinal

4

1 reference

PubMed ID

22570549

21 May 2017

language of work or name

English

0 references

publication date

19 April 2012

1 reference

Neuropsychiatric Disease and Treatment

21 May 2017

1 reference

21 May 2017

8

1 reference

21 May 2017

175-179

1 reference

Creative Commons Attribution-NonCommercial 3.0 Unported

21 May 2017

start time

1 April 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3346055

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH

22 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3346055

Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood

22 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3346055

Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development

22 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3346055

Deletion 22q13.3 syndrome

22 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3346055

Contribution of SHANK3 mutations to autism spectrum disorder

22 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3346055

22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay

22 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3346055

The neuropsychiatry of the cerebellum - insights from the clinic

22 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3346055

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

22 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3346055

Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

22 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3346055

Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum

22 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3346055

Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations

22 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3346055

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome

22 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3346055

22 May 2017

22q13 deletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3346055

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

22 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3346055

Vineland Screener 0-12 years research version (NL). Constructing a screening instrument to assess adaptive behaviour.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3346055

The role of the cerebellum in the pathophysiology and treatment of neuropsychiatric disorders: a review.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3346055

Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3346055

22q13 deletion syndrome: an update and review for the primary pediatrician

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3346055

Two 22q telomere deletions serendipitously detected by FISH

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3346055

Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3346055

The Neuropsychiatric Inventory: comprehensive assessment of psychopathology in dementia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3346055

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3346055

Further delineation of the 22q13 deletion syndrome.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3346055

Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3346055

Psychometric properties of the psychopathology instrument for mentally retarded adults.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3346055

26 November 2018

Identifiers

DOI

10.2147/NDT.S30506

1 reference

2081726

2081726

1 reference

1 reference

1 reference