(Q50306241)

2 March 2018

title

A case of autism and uniparental disomy of chromosome 1. (English)

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2 March 2018

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6

Joseph Piven

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2 March 2018

Thomas H Wassink

1

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Val C Sheffield

object named as

Val C Sheffield

7

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Veronica J Vieland

4

object named as

Veronica J Vieland

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2 March 2018

author name string

Molly Losh

2

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2 March 2018

Rebecca S Frantz

3

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2 March 2018

Rhinda Goedken

5

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2 March 2018

publication date

11 May 2005

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2 March 2018

published in

Human Genetics

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2 March 2018

volume

117

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issue

2-3

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page(s)

200-206

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2 March 2018

https://scigraph.springernature.com/pub.10.1007/s00439-005-1257-4

exact match

0 references

cites work

Broader autism phenotype: evidence from a family history study of multiple-incidence autism families

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-005-1257-4

Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-005-1257-4

Social language use in parents of autistic individuals

21 January 2018

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12 December 2020

Personality characteristics of the parents of autistic individuals

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Linkage disequilibrium mapping of schizophrenia susceptibility to the CAPON region of chromosome 1q22.

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CT scanning and schizophrenia: a review.

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Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

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Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy

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Genetics of childhood disorders: XLVII. Autism, part 6: duplication and inherited susceptibility of chromosome 15q11-q13 genes in autism.

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A catalogue of imprinted genes and parent-of-origin effects in humans and animals.

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Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa

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Tandem repeats finder: a program to analyze DNA sequences

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Autism diagnostic observation schedule: a standardized observation of communicative and social behavior

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The Prader-Willi syndrome and the Angelman syndrome.

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12 December 2020

Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency

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A genomewide screen for autism-spectrum disorders: evidence for a major susceptibility locus on chromosome 3q25-27

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Clinical, cytogenetical and molecular analyses of Angelman syndrome

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An autosomal genomic screen for autism. Collaborative linkage study of autism

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Location of a major susceptibility locus for familial schizophrenia on chromosome 1q21-q22

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A case-control family history study of autism

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Genomewide scan in families with schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1

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Genomic imprinting, uniparental disomy and foetal growth

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The biological basis of autism

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Autism diagnostic interview: a standardized investigator-based instrument.

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p63 and p73: roles in development and tumor formation

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Behavioural and emotional disturbances in people with Prader-Willi Syndrome.

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Genome-wide scan for loci of Asperger syndrome

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Cognitive abilities and genotype in a population-based sample of people with Prader-Willi syndrome

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Autism in Angelman syndrome: an exploration of comorbidity.

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12 December 2020

Prader-Willi syndrome--a study comparing deletion and uniparental disomy cases with reference to autism spectrum disorders.

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12 December 2020

Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively

1 reference

12 December 2020

Chromosomal abnormalities in a clinic sample of individuals with autistic disorder

1 reference

12 December 2020

10.1007/S00439-005-1257-4

Identifiers

DOI

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2 March 2018

PubMed ID

15887000

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2 March 2018