Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems. (Q34381783)

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English	Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.	scientific article

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17 January 2020

Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems (English)

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17 January 2020

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Elżbieta Szczepanik

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17 January 2020

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Tadeusz Mazurczak

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Carlos A Bacino

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Ewa Bocian

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Pawel Stankiewicz

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Ankita Patel

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Magdalena Bartnik-Głaska

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17 January 2020

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Melissa B Ramocki

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17 January 2020

Przemyslaw Szafranski

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17 January 2020

Katarzyna E Kołodziejska

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17 January 2020

Zhilian Xia

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17 January 2020

Jaclyn Bravo

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17 January 2020

G Steve Miller

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17 January 2020

Diana L Rodriguez

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17 January 2020

Charles A Williams

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17 January 2020

Patricia I Bader

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17 January 2020

Tomasz Mazurczak

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17 January 2020

Dorota Antczak-Marach

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James G Coldwell

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17 January 2020

Cigdem I Akman

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17 January 2020

Karen McAlmon

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17 January 2020

Melinda P Cohen

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17 January 2020

James McGrath

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17 January 2020

Elizabeth Roeder

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17 January 2020

Jennifer Mueller

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17 January 2020

Sung-Hae L Kang

21

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17 January 2020

Sau Wai Cheung

26

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17 January 2020

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publication date

25 November 2010

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17 January 2020

American Journal of Human Genetics

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17 January 2020

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17 January 2020

6

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17 January 2020

857-865

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17 January 2020

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

1 reference

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6 July 2018

Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997378

6 July 2018

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

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997378

6 July 2018

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997378

6 July 2018

Origins and functional impact of copy number variation in the human genome

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6 July 2018

Endocytic trafficking and recycling maintain a pool of mobile surface AMPA receptors required for synaptic potentiation

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6 July 2018

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

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6 July 2018

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

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6 July 2018

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997378

6 July 2018

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

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6 July 2018

Population analysis of large copy number variants and hotspots of human genetic disease

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6 July 2018

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997378

6 July 2018

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

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997378

6 July 2018

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997378

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997378

6 July 2018

Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997378

6 July 2018

Ionotropic glutamate receptors & CNS disorders.

1 reference

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6 July 2018

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

1 reference

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6 July 2018

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997378

6 July 2018

Structural variation of chromosomes in autism spectrum disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997378

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997378

6 July 2018

Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997378

6 July 2018

Huntingtin-interacting protein 1 influences worm and mouse presynaptic function and protects Caenorhabditis elegans neurons against mutant polyglutamine toxicity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997378

6 July 2018

Copy-number variation in control population cohorts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997378

6 July 2018

Fragile X mental retardation protein deficiency leads to excessive mGluR5-dependent internalization of AMPA receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997378

6 July 2018

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997378

6 July 2018

NMDA receptor function and NMDA receptor-dependent phosphorylation of huntingtin is altered by the endocytic protein HIP1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997378

6 July 2018

Global variation in copy number in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997378

6 July 2018

Stargazin and other transmembrane AMPA receptor regulating proteins interact with synaptic scaffolding protein MAGI-2 in brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997378

6 July 2018

Association of poly-purine/poly-pyrimidine sequences with meiotic recombination hot spots

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997378

6 July 2018

Disruption of the endocytic protein HIP1 results in neurological deficits and decreased AMPA receptor trafficking

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997378

6 July 2018

Huntingtin-interacting protein 1 is overexpressed in prostate and colon cancer and is critical for cellular survival

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997378

6 July 2018

Huntingtin interacting protein 1 Is a clathrin coat binding protein required for differentiation of late spermatogenic progenitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997378

6 July 2018

The huntingtin interacting protein HIP1 is a clathrin and alpha-adaptin-binding protein involved in receptor-mediated endocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997378

6 July 2018

HIP1 functions in clathrin-mediated endocytosis through binding to clathrin and adaptor protein 2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997378

6 July 2018

Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997378

6 July 2018

Fusion of Huntingtin interacting protein 1 to platelet-derived growth factor beta receptor (PDGFbetaR) in chronic myelomonocytic leukemia with t(5;7)(q33;q11.2).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997378

6 July 2018

HIP1, a human homologue of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997378

6 July 2018

An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997378

27 October 2018

Huntingtin Interacting Protein 1 mutations lead to abnormal hematopoiesis, spinal defects and cataracts.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997378

27 October 2018

Infantile spasms in a patient with williams syndrome and craniosynostosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997378

27 October 2018

A case of Williams syndrome with a large, visible cytogenetic deletion.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997378

27 October 2018

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997378

27 October 2018

Deletion of 7q11.21-q11.23 and infantile spasms without deletion of MAGI2

1 reference

https://pubmed.ncbi.nlm.nih.gov/21109226

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heat shock protein 27 gene: chromosomal and molecular location and relationship to Williams syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/21109226

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Williams-Beuren syndrome and West "syndrome:" causal association or contiguous gene deletion syndrome?

1 reference

https://pubmed.ncbi.nlm.nih.gov/21109226

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/21109226

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Periventricular nodular heterotopia and Williams syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/21109226

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural variation in the human genome

1 reference

https://pubmed.ncbi.nlm.nih.gov/21109226

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2010.10.019

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17 January 2020

1 reference

Europe PubMed Central

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17 January 2020

1 reference

Europe PubMed Central

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17 January 2020

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