(Q50310645)

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Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area.

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scholarly article

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Europe PubMed Central

2 March 2018

http://europepmc.org/abstract/MED/18270536

Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area. (English)

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Europe PubMed Central

2 March 2018

http://europepmc.org/abstract/MED/18270536

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Loredana Boccone

3

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Europe PubMed Central

2 March 2018

http://europepmc.org/abstract/MED/18270536

6

object named as

Laura Crisponi

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Europe PubMed Central

2 March 2018

http://europepmc.org/abstract/MED/18270536

author name string

Chiara Floris

1

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Europe PubMed Central

2 March 2018

http://europepmc.org/abstract/MED/18270536

Stefania Rassu

2

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Europe PubMed Central

2 March 2018

http://europepmc.org/abstract/MED/18270536

Daniela Gasperini

4

1 reference

Europe PubMed Central

2 March 2018

http://europepmc.org/abstract/MED/18270536

Antonio Cao

5

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Europe PubMed Central

2 March 2018

http://europepmc.org/abstract/MED/18270536

publication date

13 February 2008

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Europe PubMed Central

2 March 2018

http://europepmc.org/abstract/MED/18270536

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9

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European Journal of Human Genetics

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Europe PubMed Central

2 March 2018

http://europepmc.org/abstract/MED/18270536

16

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Europe PubMed Central

2 March 2018

http://europepmc.org/abstract/MED/18270536

6

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Europe PubMed Central

2 March 2018

http://europepmc.org/abstract/MED/18270536

696-704

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Europe PubMed Central

2 March 2018

http://europepmc.org/abstract/MED/18270536

https://scigraph.springernature.com/pub.10.1038/ejhg.2008.7

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The genetics of autism

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.7

21 January 2018

Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3' to the SDC2 gene

1 reference

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21 January 2018

Autism: highly heritable but not inherited

1 reference

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Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism

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Strong association of de novo copy number mutations with autism

1 reference

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Epigenetics of autism spectrum disorders

1 reference

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Imbalanced genomic imprinting in brain development: an evolutionary basis for the aetiology of autism

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Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

1 reference

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A genomewide screen of 345 families for autism-susceptibility loci

1 reference

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The genetics of autistic disorders and its clinical relevance: a review of the literature

1 reference

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Autism and environmental genomics

1 reference

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Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study

1 reference

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Association of INPP1, PIK3CG, and TSC2 gene variants with autistic disorder: implications for phosphatidylinositol signalling in autism

1 reference

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Association between the FOXP2 gene and autistic disorder in Chinese population.

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A linkage disequilibrium map of the 1-Mb 15q12 GABA(A) receptor subunit cluster and association to autism.

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Searching for ways out of the autism maze: genetic, epigenetic and environmental clues

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Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism.

1 reference

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Chromosomal anomalies in individuals with autism: a strategy towards the identification of genes involved in autism.

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Genome-wide and Ordered-Subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates

1 reference

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21 January 2018

Search for autism loci by combined analysis of Autism Genetic Resource Exchange and Finnish families

1 reference

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A novel giant gene CSMD3 encoding a protein with CUB and sushi multiple domains: a candidate gene for benign adult familial myoclonic epilepsy on human chromosome 8q23.3-q24.1.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.7

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Duplication of primate and rodent B7-H3 immunoglobulin V- and C-like domains: divergent history of functional redundancy and exon loss

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Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I

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Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome

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Control of mouse cardiac morphogenesis and myogenesis by transcription factor MEF2C

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MEF2C, a MADS/MEF2-family transcription factor expressed in a laminar distribution in cerebral cortex

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Identification of a new mammalian centrin gene, more closely related to Saccharomyces cerevisiae CDC31 gene

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Cell surface antigen CD109 is a novel member of the alpha(2) macroglobulin/C3, C4, C5 family of thioester-containing proteins

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Complete primary structure of two splice variants of collagen XII, and assignment of alpha 1(XII) collagen (COL12A1), alpha 1(IX) collagen (COL9A1), and alpha 1(XIX) collagen (COL19A1) to human chromosome 6q12-q13

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A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases

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The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

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Fishing for new genes in skin biology: impact of cytogenetics on gene discovery

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Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia

1 reference

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21 January 2018

Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.7

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Epigenetic inactivation and aberrant transcription of CSMD1 in squamous cell carcinoma cell lines

1 reference

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Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum Disorder

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of two new members of the CSMD gene family

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.7

7 January 2021

based on heuristic

inferred from DOI database lookup

Position effect in human genetic disease

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.7

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/EJHG.2008.7

1 reference

Europe PubMed Central

2 March 2018

http://europepmc.org/abstract/MED/18270536

1 reference

Europe PubMed Central

2 March 2018

http://europepmc.org/abstract/MED/18270536

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