Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardation (Q35441852)

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English	Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardation	scientific article

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scholarly article

1 reference

Europe PubMed Central

8 August 2017

Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardation (English)

1 reference

Europe PubMed Central

8 August 2017

author name string

Cox JJ

1

1 reference

Europe PubMed Central

8 August 2017

Holden ST

2

1 reference

Europe PubMed Central

8 August 2017

Dee S

3

1 reference

Europe PubMed Central

8 August 2017

Burbridge JI

4

1 reference

Europe PubMed Central

8 August 2017

Raymond FL

5

1 reference

Europe PubMed Central

8 August 2017

language of work or name

0 references

publication date

1 March 2003

1 reference

Europe PubMed Central

8 August 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

8 August 2017

40

1 reference

Europe PubMed Central

8 August 2017

3

1 reference

Europe PubMed Central

8 August 2017

169-174

1 reference

Europe PubMed Central

8 August 2017

AGTR2 mutations in X-linked mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735403

12 July 2018

X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735403

12 July 2018

Physical and genetic characterization reveals a pseudogene, an evolutionary junction, and unstable loci in distal Xq28.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735403

12 July 2018

Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735403

12 July 2018

A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735403

12 July 2018

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735403

12 July 2018

Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735403

12 July 2018

A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735403

12 July 2018

Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735403

12 July 2018

Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735403

12 July 2018

Mutations in GDI1 are responsible for X-linked non-specific mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735403

12 July 2018

Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735403

12 July 2018

Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735403

12 July 2018

Regional localization of two MRX genes to Xq28 (MRX28) and to Xp11.4-Xp22.12 (MRX33)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735403

12 July 2018

Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735403

12 July 2018

Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735403

12 July 2018

Identification of the gene FMR2, associated with FRAXE mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735403

12 July 2018

Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735403

12 July 2018

A synaptic model of memory: long-term potentiation in the hippocampus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735403

12 July 2018

Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735403

12 July 2018

Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735403

12 July 2018

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735403

12 July 2018

Mnemonic theories of hippocampal function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735403

12 July 2018

Studies on clonality by PCR analysis of the PGK-1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735403

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735403

12 July 2018

Localisation of the MRX3 gene for non-specific X linked mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735403

12 July 2018

Linkage to Xq28 in a family with nonspecific X-linked mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735403

12 July 2018

An X chromosome inactivation assay based on differential methylation of a CpG island coupled to a VNTR polymorphism at the 5' end of the monoamine oxidase A gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735403

12 July 2018

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735403

12 July 2018

High resolution comparative genomic hybridisation in clinical cytogenetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735403

26 September 2018

MECP2 is highly mutated in X-linked mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735403

26 September 2018

Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: linkage analysis and clinical findings in a three-generation Sardinian family.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735403

26 September 2018

Xq-Yq interchange resulting in supernormal X-linked gene expression in severely retarded males with 46,XYq- karyotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735403

26 September 2018

High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/12624134

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular analysis of a reciprocal translocation t(5;11) (q11;p13) in a WAGR patient

1 reference

https://pubmed.ncbi.nlm.nih.gov/12624134

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

"Possibly" de novo translocations: prenatal risk counseling

1 reference

https://pubmed.ncbi.nlm.nih.gov/12624134

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Positional cloning moves from perditional to traditional

1 reference

https://pubmed.ncbi.nlm.nih.gov/12624134

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Position effect in human genetic disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/12624134

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular characterization and delineation of subtle deletions in de novo "balanced" chromosomal rearrangements

1 reference

https://pubmed.ncbi.nlm.nih.gov/12624134

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A patient with a de novo t (6;9) and an interstitial duplication of (9)(q21.2q22.1)

1 reference

https://pubmed.ncbi.nlm.nih.gov/12624134

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.40.3.169

1 reference

Europe PubMed Central

8 August 2017

1 reference

Europe PubMed Central

8 August 2017

1 reference

Europe PubMed Central

8 August 2017

ResearchGate publication ID

0 references

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