Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. (Q33387075)

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English	Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.	scientific article

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12 February 2020

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome (English)

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12 February 2020

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cognitive dysfunction

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Stephen W. Scherer

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12 February 2020

Hans van Bokhoven

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Carlos A Bacino

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Carlos A Bacino

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Tjitske Kleefstra

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Tjitske Kleefstra

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Marjolein H Willemsen

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Marjolein H Willemsen

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Arjan P M de Brouwer

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Arjan P M de Brouwer

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Bridget A Fernandez

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Erica Gerkes

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Birgit Sikkema-Raddatz

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12 February 2020

Christian R Marshall

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Lorraine Potocki

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18 November 2009

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European Journal of Human Genetics

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12 February 2020

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12 February 2020

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12 February 2020

429-435

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12 February 2020

Common genetic variants on 5p14.1 associate with autism spectrum disorders

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21 June 2018

Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability

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21 June 2018

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

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FOXG1 is responsible for the congenital variant of Rett syndrome

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Novel microdeletion syndromes detected by chromosome microarrays

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Structural variation of chromosomes in autism spectrum disorder

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An ENU-induced mutation in the Ankrd11 gene results in an osteopenia-like phenotype in the mouse mutant Yoda

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Copy-number variation in control population cohorts

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21 June 2018

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome

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The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utility.

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Characterization of transcriptional regulatory domains of ankyrin repeat cofactor-1.

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Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

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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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Global variation in copy number in the human genome

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Genomic microarrays in clinical diagnosis

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21 June 2018

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

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Structural variation in the human genome

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987261

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ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation

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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

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21 June 2018

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21 January 2018

A small deletion of 16q23.1-->16q24.2 [del(16)(q23.1q24.2).ish del(16)(q23.1q24.2)(D16S395+, D16S348-, P5432+)] in a boy with iris coloboma and minor anomalies.

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Delineation of a ring chromosome 16 by the FISH-technique: a case report with review.

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Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization.

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Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.

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Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

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Tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries in a patient with interstitial deletion of 16q21-q22.1.

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Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation

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Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes.

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10.1038/EJHG.2009.192

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