Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder (Q35257406)

7 August 2017

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder (English)

1 reference

7 August 2017

autism spectrum disorder

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22

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7 August 2017

Marion Leboyer

19

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Richard Delorme

object named as

Richard Delorme

5

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Christopher Gillberg

20

object named as

Christopher Gillberg

1 reference

7 August 2017

Pierre Bitoun

17

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Sandrine Passemard

9

object named as

Sandrine Passemard

1 reference

7 August 2017

Alain Verloes

2

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7 August 2017

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Delphine Héron

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7 August 2017

11

Jean-Pierre Siffroi

1 reference

7 August 2017

Anne-Claude Tabet

1

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7 August 2017

Marion Pilorge

3

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7 August 2017

Elsa Delaby

4

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7 August 2017

Gudrun Nygren

6

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7 August 2017

Françoise Devillard

7

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7 August 2017

Marion Gérard

8

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7 August 2017

Aurelia Jacquette

12

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7 August 2017

Andrée Delahaye

13

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7 August 2017

Laurence Perrin

14

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7 August 2017

Céline Dupont

15

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7 August 2017

Azzedine Aboura

16

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7 August 2017

Mary Coleman

18

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7 August 2017

Brigitte Benzacken

21

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7 August 2017

25 March 2015

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Creative Commons Attribution 4.0 International

7 August 2017

start time

25 March 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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exact match

https://scigraph.springernature.com/pub.10.1186/s13229-015-0015-2

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cites work

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

1 reference

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Recent developments in the genetics of autism spectrum disorders

12 July 2018

1 reference

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The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

12 July 2018

1 reference

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Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

12 July 2018

1 reference

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The ciliogenic transcription factor RFX3 regulates early midline distribution of guidepost neurons required for corpus callosum development

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.

12 July 2018

1 reference

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Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting

12 July 2018

1 reference

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Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Clinical genetic testing for patients with autism spectrum disorders

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Identification of chromosome 7 inversion breakpoints in an autistic family narrows candidate region for autism susceptibility

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

SynCAM1 recruits NMDA receptors via protein 4.1B.

12 July 2018

1 reference

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Submicroscopic duplication of the Wolf-Hirschhorn critical region with a 4p terminal deletion.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Inverted duplications deletions: underdiagnosed rearrangements??

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

The transcription factor RFX3 directs nodal cilium development and left-right asymmetry specification

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Associated medical disorders and disabilities in children with autistic disorder: a population-based study

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Clinical manifestations of trisomy 4p syndrome.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Chromosomal polymorphisms of 1, 9, 16, and Y in 4 major ethnic groups: a large prenatal study

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Incontinentia pigmenti (type 1) and X;5 translocation

12 July 2018

1 reference

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Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Microduplication of 4p16.3 due to an unbalanced translocation resulting in a mild phenotype.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Cognitive-behavioral features of Wolf-Hirschhorn syndrome and other subtelomeric microdeletions.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

A deficiency in RFX3 causes hydrocephalus associated with abnormal differentiation of ependymal cells.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Classical West "syndrome" phenotype with a subtelomeric 4p trisomy.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Inv dup del(4)(:p14 --> p16.3::p16.3 --> qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Inv dup del(4)(:p13-->p16.3::p16.3-->qter) in a girl without typical manifestations of Wolf-Hirschhorn syndrome

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Pericentric inversions in man. A French collaborative study. Groupe de Cytogénéticiens Français

26 September 2018

1 reference

12 December 2020

Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4

1 reference

12 December 2020

A family with partial duplication/deletion 4p due to a balanced t (4; 15) (p16.2; p11.2) translocation

1 reference

12 December 2020

Investigation of the origins of human autosomal inversions

1 reference

12 December 2020

Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family

1 reference

12 December 2020

Telomere capture as a frequent mechanism for stabilization of the terminal chromosomal deletion associated with inverted duplication

1 reference

12 December 2020

10.1186/S13229-015-0015-2

Identifiers

DOI

1 reference

Dimensions Publication ID

7 August 2017

0 references

1 reference

7 August 2017

1 reference