Detection of mosaic RB1 mutations in families with retinoblastoma (Q34961418)

5 August 2017

title

Detection of mosaic RB1 mutations in families with retinoblastoma (English)

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5 August 2017

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Brenda L Gallie

7

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author name string

Diane Rushlow

1

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5 August 2017

Beata Piovesan

2

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5 August 2017

Katherine Zhang

3

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5 August 2017

Nadia L Prigoda-Lee

4

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5 August 2017

Mellone N Marchong

5

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5 August 2017

Robin D Clark

6

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5 August 2017

publication date

1 May 2009

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5 August 2017

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5 August 2017

volume

30

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5 August 2017

issue

5

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5 August 2017

page(s)

842-851

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A PCR test for the detection of hypermethylated alleles at the retinoblastoma locus

5 August 2017

cites work

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https://api.crossref.org/works/10.1002%2FHUMU.20940

Spectrum of gross deletions and insertions in theRB1 gene in patients with retinoblastoma and association with phenotypic expression

21 January 2018

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7 January 2021

Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease

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7 January 2021

Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.

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7 January 2021

Frequency of 13q abnormalities among 203 patients with retinoblastoma

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7 January 2021

Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome

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7 January 2021

Wild-type blocking polymerase chain reaction for detection of single nucleotide minority mutations from clinical specimens.

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7 January 2021

Identification of germline and somatic mutations affecting the retinoblastoma gene

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7 January 2021

Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes.

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7 January 2021

A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma

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7 January 2021

Structural evidence for the authenticity of the human retinoblastoma gene

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7 January 2021

Germline and somatic mosaicism in achondroplasia.

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7 January 2021

Factor V Leiden: detection in whole blood by ASA PCR using an additional mismatch in antepenultimate position

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7 January 2021

Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF.

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7 January 2021

Low level mosaicism detectable by DHPLC but not by direct sequencing

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7 January 2021

Natural repair mechanisms in correcting pathogenic mutations in inherited skin disorders

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7 January 2021

Retinoblastoma associated with chromosomal 13q14 deletion mosaicism

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7 January 2021

A parent-of-origin effect in two families with retinoblastoma is associated with a distinct splice mutation in the RB1 gene

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7 January 2021

Somatic mosaicism in hemophilia A: a fairly common event.

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7 January 2021

Real-time quantitative allele discrimination assay using 3' locked nucleic acid primers for detection of low-percentage mosaic mutations.

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7 January 2021

Constitutively methylated CpG dinucleotides as mutation hot spots in the retinoblastoma gene (RB1).

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7 January 2021

Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene

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7 January 2021

Selective amplification of rare mutations using locked nucleic acid oligonucleotides that competitively inhibit primer binding to wild-type DNA.

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7 January 2021

Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma

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7 January 2021

Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis

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7 January 2021

Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method.

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7 January 2021

Age at diagnosis of isolated unilateral retinoblastoma does not distinguish patients with and without a constitutional RB1 gene mutation but is influenced by a parent-of-origin effect

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20940

7 January 2021

Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling.

1 reference

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7 January 2021

RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20940

7 January 2021

The electroencephalogram (EEG) as a research tool in human behavior genetics: psychological examinations in healthy males with various inherited EEG variants. I. Rationale of the study. Material. Methods. Heritability of test parameters

1 reference

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7 January 2021

Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20940

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.20940

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20940

1 reference

release_ucvshq44ezcxlekdbe6vtmteom

5 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ucvshq44ezcxlekdbe6vtmteom

24 November 2022

mapped directly with Wikidata item

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