(Q50310919)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18183041%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

title

A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia (English)

1 reference

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31 December 2019

0 references

1 reference

Marlene Briciet Lauritsen

2

1 reference

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31 December 2019

Astrid M. Vicente

5

1 reference

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31 December 2019

Guiomar Oliveira

6

1 reference

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31 December 2019

Guiomar Oliveira

7

1 reference

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31 December 2019

Paal S Andersen

10

1 reference

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31 December 2019

Ole Mors

11

1 reference

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31 December 2019

Niels Tommerup

20

1 reference

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31 December 2019

Morten Møller

3

1 reference

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31 December 2019

Iben Bache

18

1 reference

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31 December 2019

Zeynep Tumer

19

1 reference

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31 December 2019

14

Rodney M J Cotterill

1 reference

31 December 2019

Mette Gilling

1

1 reference

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31 December 2019

Karen Friis Henriksen

4

1 reference

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31 December 2019

Christina Cintin

8

1 reference

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31 December 2019

Hans Eiberg

9

1 reference

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31 December 2019

Thomas Rosenberg

12

1 reference

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31 December 2019

Karen Brøndum-Nielsen

13

1 reference

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31 December 2019

Claes Lundsteen

15

1 reference

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31 December 2019

Hans-Hilger Ropers

16

1 reference

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31 December 2019

Reinhard Ullmann

17

1 reference

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31 December 2019

publication date

9 January 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18183041%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

31 December 2019

published in

1 reference

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31 December 2019

volume

16

1 reference

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31 December 2019

page(s)

312-319

1 reference

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31 December 2019

issue

3

1 reference

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201985

31 December 2019

exact match

0 references

cites work

Epidemiological surveys of autism and other pervasive developmental disorders: an update

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Prevalence of disorders of the autism spectrum in a population cohort of children in South Thames: the Special Needs and Autism Project (SNAP)

21 January 2018

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Incidence of autism spectrum disorders: Changes over time and their meaning*

21 January 2018

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Genetics of austim: complex aetiology for a heterogeneous disorder

21 January 2018

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Genetic studies of autism: from the 1970s into the millennium

21 January 2018

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A genomic screen of autism: evidence for a multilocus etiology

21 January 2018

1 reference

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Disruption of two novel genes by a translocation co-segregating with schizophrenia

21 January 2018

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SUMO1 haploinsufficiency leads to cleft lip and palate

21 January 2018

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

21 January 2018

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The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism

21 January 2018

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

21 January 2018

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Investigation of two variants in the DOPA decarboxylase gene in patients with autism

21 January 2018

1 reference

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A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium

21 January 2018

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Toward objective classification of childhood autism: Childhood Autism Rating Scale (CARS)

21 January 2018

1 reference

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Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation.

21 January 2018

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Determination of stable housekeeping genes, differentially regulated target genes and sample integrity: BestKeeper – Excel-based tool using pair-wise correlations

21 January 2018

1 reference

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Localization and diurnal expression of mRNA encoding the beta1-adrenoceptor in the rat pineal gland: an in situ hybridization study.

21 January 2018

1 reference

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Ultraconserved Elements in the Human Genome

21 January 2018

1 reference

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Identification and characterization of murine Brunol4, a new member of the elav/bruno family.

21 January 2018

1 reference

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Characterization and spatial distribution of the ELAV protein duringDrosophila melanogaster development

21 January 2018

1 reference

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Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

21 January 2018

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Germ-line DNA copy number variation frequencies in a large North American population

21 January 2018

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Global variation in copy number in the human genome

21 January 2018

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Fine-scale structural variation of the human genome

21 January 2018

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An initial map of insertion and deletion (INDEL) variation in the human genome.

21 January 2018

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Detection of large-scale variation in the human genome

21 January 2018

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A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation

21 January 2018

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Positional cloning, association analysis and expression studies provide convergent evidence that the cadherin gene FAT contains a bipolar disorder susceptibility allele.

21 January 2018

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Bipolar disorder, schizophrenia, and other psychotic disorders in adults with childhood onset AD/HD and/or autism spectrum disorders

21 January 2018

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Correlation of family history with specific autistic subgroups: Asperger's syndrome and bipolar affective disease.

21 January 2018

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A family history study of Asperger syndrome

21 January 2018

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Abnormal melatonin synthesis in autism spectrum disorders

21 January 2018

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Biological rhythm disturbances in mood disorders

21 January 2018

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18q deletions: clinical, molecular, and brain MRI findings of 14 individuals.

21 January 2018

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Syndromes associated with deletion of the long arm of chromosome 18[del(18q)]

21 January 2018

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Molecular characterisation of a proximal chromosome 18q deletion

21 January 2018

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Evolution and functional classification of vertebrate gene deserts

21 January 2018

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Arrays of ultraconserved non-coding regions span the loci of key developmental genes in vertebrate genomes

21 January 2018

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Highly conserved non-coding sequences are associated with vertebrate development

21 January 2018

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The LZT proteins; the LIV-1 subfamily of zinc transporters

21 January 2018

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A Stat3-interacting protein (StIP1) regulates cytokine signal transduction

21 January 2018

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Signalling through the JAK-STAT pathway in the developing brain

21 January 2018

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STAT signalling in the mature and aging brain.

21 January 2018

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Diverse spatial expression patterns of UDP-GalNAc:polypeptide N-acetylgalactosaminyl-transferase family member mRNAs during mouse development.

21 January 2018

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Embryonic lethal abnormal visual RNA-binding proteins involved in growth, differentiation, and posttranscriptional gene expression

21 January 2018

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Neuropathological findings in autism

21 January 2018

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Developmental and physiological analysis of a conditional mutation affecting photoreceptor and optic lobe development in Drosophila melanogaster.

21 January 2018

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Mutant alleles at the locus elav in Drosophila melanogaster lead to nervous system defects. A developmental-genetic analysis.

21 January 2018

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2-year-old boy who has been diagnosed with autism

21 January 2018

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7 January 2021

Cloning and expression of the large zebrafish protocadherin gene, Fat.

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7 January 2021

Analysis of clinical variation seen in patients with 18q terminal deletions

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7 January 2021

EB1 identifies sites of microtubule polymerisation during neurite development

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7 January 2021