Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes (Q34478056)

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English	Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes	scientific article

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scholarly article

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Europe PubMed Central

2 August 2017

Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes (English)

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Europe PubMed Central

2 August 2017

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GABA(A) receptor-associated protein b

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GOA release 2020-03-11

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GOA release 2020-03-11

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intellectual disability

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based on heuristic

inferred from title

disability affecting intellectual abilities

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Nicholas Katsanis

17

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10 June 2020

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10 June 2020

Anne-Bine Skytte

8

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10 June 2020

Ana Cristina Krepischi

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10 June 2020

Carla Rosenberg

16

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10 June 2020

James R. Lupski

18

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James R Lupski

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Melissa B Ramocki

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Melissa B Ramocki

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Sau Wai Cheung

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Claudia M B Carvalho

1

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Shivakumar Vasanth

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Chad Russell

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Chester W Brown

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Jesper Graakjaer

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Angela M Vianna-Morgante

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Gayle S Patel

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LaDonna Immken

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10 June 2020

Kyrieckos Aleck

13

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10 June 2020

Cynthia Lim

14

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10 June 2020

language of work or name

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6 November 2014

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American Journal of Human Genetics

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10 June 2020

565-578

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10 June 2020

5

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10 June 2020

describes a project that uses

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A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

1 reference

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6 July 2018

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles

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6 July 2018

Congenital microcephaly

1 reference

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6 July 2018

Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function

1 reference

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6 July 2018

Mitochondrial dysfunction in autism

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6 July 2018

Interaction of Bcl-2 with the autophagy-related GABAA receptor-associated protein (GABARAP): biophysical characterization and functional implications.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225592

6 July 2018

SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant

1 reference

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6 July 2018

Replicative mechanisms for CNV formation are error prone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225592

6 July 2018

In vivo modeling of the morbid human genome using Danio rerio

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6 July 2018

Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays

1 reference

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6 July 2018

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome

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6 July 2018

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain

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6 July 2018

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

1 reference

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6 July 2018

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

1 reference

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6 July 2018

Dishevelled 2 signaling promotes self-renewal and tumorigenicity in human gliomas

1 reference

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6 July 2018

Break-induced replication is highly inaccurate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225592

6 July 2018

A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes

1 reference

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6 July 2018

Detection of clinically relevant exonic copy-number changes by array CGH.

1 reference

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6 July 2018

Dishevelled, a Wnt signalling component, is involved in mitotic progression in cooperation with Plk1.

1 reference

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6 July 2018

Increased mutagenesis and unique mutation signature associated with mitotic gene conversion

1 reference

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6 July 2018

A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish

1 reference

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6 July 2018

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

1 reference

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6 July 2018

Differentiation of mouse Neuro 2A cells into dopamine neurons

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6 July 2018

Dysregulation of very long chain acyl-CoA dehydrogenase coupled with lipid peroxidation

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6 July 2018

Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1.

1 reference

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6 July 2018

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225592

6 July 2018

Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole genome array testing.

1 reference

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6 July 2018

Clinical utility of array comparative genomic hybridization: uncovering tumor susceptibility in individuals with developmental delay

1 reference

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6 July 2018

A microhomology-mediated break-induced replication model for the origin of human copy number variation

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6 July 2018

Increased LIS1 expression affects human and mouse brain development

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6 July 2018

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

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6 July 2018

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

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6 July 2018

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

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6 July 2018

GABAA receptor associated proteins: a key factor regulating GABAA receptor function

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6 July 2018

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

1 reference

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6 July 2018

Conductance of recombinant GABA (A) channels is increased in cells co-expressing GABA(A) receptor-associated protein.

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6 July 2018

Role of TBX1 in human del22q11.2 syndrome

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6 July 2018

Dishevelled 2 is essential for cardiac outflow tract development, somite segmentation and neural tube closure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225592

6 July 2018

Haploinsufficiency of NSD1 causes Sotos syndrome

1 reference

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6 July 2018

The gamma-aminobutyric acid type A (GABAA) receptor-associated protein (GABARAP) promotes GABAA receptor clustering and modulates the channel kinetics

1 reference

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6 July 2018

GABA(A)-receptor-associated protein links GABA(A) receptors and the cytoskeleton

1 reference

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6 July 2018

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225592

6 July 2018

Rat very-long-chain acyl-CoA dehydrogenase, a novel mitochondrial acyl-CoA dehydrogenase gene product, is a rate-limiting enzyme in long-chain fatty acid beta-oxidation system. cDNA and deduced amino acid sequence and distinct specificities of [...]

1 reference

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6 July 2018

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

1 reference

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6 July 2018

The asialoglycoprotein receptor: relationships between structure, function, and expression

1 reference

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6 July 2018

Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood

1 reference

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6 July 2018

Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome

1 reference

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6 July 2018

Contiguous gene syndromes: a component of recognizable syndromes

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6 July 2018

790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism.

1 reference

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27 October 2018

17p13.1 microdeletion involving the TP53 gene in a boy presenting with mental retardation but no tumor.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225592

27 October 2018

Head circumference and height in autism: a study by the Collaborative Program of Excellence in Autism.

1 reference

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27 October 2018

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

1 reference

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27 October 2018

Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses

1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events

1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ABase-a tool for the rapid assessment of anthropometric measurements on handheld computers

1 reference

https://pubmed.ncbi.nlm.nih.gov/25439725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

https://pubmed.ncbi.nlm.nih.gov/25439725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A transgenic rat model of Charcot-Marie-Tooth disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/25439725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microdeletion in distal 17p13.1: a recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability

1 reference

https://pubmed.ncbi.nlm.nih.gov/25439725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

17p13.1 microduplication in a boy with Silver-Russell syndrome features and intellectual disability

1 reference

https://pubmed.ncbi.nlm.nih.gov/25439725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2014.10.006

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10 June 2020

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10 June 2020

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10 June 2020

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