A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation. (Q33698630)

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English	A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation.	scientific article

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14 February 2020

A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation (English)

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14 February 2020

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Mustafa A. Salih

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Khaled K Abu-Amero

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14 February 2020

Ali M Hellani

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14 February 2020

Mohammad Z Seidahmed

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14 February 2020

Tageldin S Elmalik

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14 February 2020

Ghassan Zidan

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14 February 2020

Thomas M Bosley

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21 September 2010

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14 February 2020

BMC Medical Genetics

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14 February 2020

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135

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14 February 2020

https://scigraph.springernature.com/pub.10.1186/1471-2350-11-135

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Autism in Saudi Arabia: presentation, clinical correlates and comorbidity

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21 June 2018

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

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21 June 2018

Psychosis genetics: modeling the relationship between schizophrenia, bipolar disorder, and mixed (or "schizoaffective") psychoses

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21 June 2018

Chromosomal mosaicism goes global

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21 June 2018

On the origin of trisomy 21 Down syndrome

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21 June 2018

A de novo apparently balanced translocation [46,XY,t(2;9)(p13;p24)] interrupting RAB11FIP5 identifies a potential candidate gene for autism spectrum disorder

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21 June 2018

Structural variation of chromosomes in autism spectrum disorder

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21 June 2018

Association between microdeletion and microduplication at 16p11.2 and autism

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21 June 2018

Phenotypic and cytogenetic spectrum of 9p trisomy

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21 June 2018

The Epidemiology of Autism Spectrum Disorders *

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21 June 2018

Strong association of de novo copy number mutations with autism

1 reference

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21 June 2018

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

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21 June 2018

Genetics of autism spectrum disorder

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21 June 2018

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

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21 June 2018

A fresh look at an ancient receptor family: emerging roles for low density lipoprotein receptors in synaptic plasticity and memory formation

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21 June 2018

Characterization of partial trisomy 9p due to insertional translocation by chromosomal (micro)FISH.

1 reference

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21 June 2018

The region on 9p associated with 46,XY sex reversal contains several transcripts expressed in the urogenital system and a novel doublesex-related domain

1 reference

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21 June 2018

Direct duplication of 9p22-->p24 in a child with duplication 9p syndrome

1 reference

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21 June 2018

Duplication 9p due to unequal sister chromatid exchange

1 reference

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21 June 2018

De novo tandem duplication 9p (p12----p24) with normal GALT activity in red cells.

1 reference

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21 June 2018

Possible intrachromosomal duplication in a case of trisomy 9p.

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21 June 2018

Partial duplication of the short arm of chromosome 9 (p13→p22) in a child with typical 9p trisomy phenotype

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21 June 2018

Cytogenetic findings in 200 children with mental retardation and multiple congenital anomalies of unknown cause.

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21 January 2018

Partial trisomy 9p12p21.3 with a normal phenotype

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21 January 2018

Unexplained autism is frequently associated with low-level mosaic aneuploidy.

1 reference

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21 January 2018

The human doublesex-related gene, DMRT2, is homologous to a gene involved in somitogenesis and encodes a potential bicistronic transcript.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-135

21 January 2018

Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-135

21 January 2018

Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome

1 reference

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21 January 2018

9p duplication confirmed by gene dosage effect: report of two patients.

1 reference

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30 October 2018

20-Mb duplication of chromosome 9p in a girl with minimal physical findings and normal IQ: Narrowing of the 9p duplication critical region to 6 Mb

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-135

21 January 2018

Disclosing the mechanisms of origin of de novo short-arm duplications of chromosome 9

1 reference

https://pubmed.ncbi.nlm.nih.gov/20858261

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Further delineation of the critical region for the 9p-duplication syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/20858261

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Duplication of the short arm of chromosome 9. Analysis of five cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/20858261

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

4 cases of trisomy for the short arm of chromosome 9. Individualization of a new morbid entity

1 reference

https://pubmed.ncbi.nlm.nih.gov/20858261

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The syndrome of trisomy 9p and presentation of 2 new cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/20858261

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1471-2350-11-135

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14 February 2020

1 reference

Europe PubMed Central

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14 February 2020

1 reference

Europe PubMed Central

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14 February 2020

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