(Q34734030)

4 August 2017

title

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

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4 August 2017

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4

Brenda L Gallie

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4 August 2017

Katherine Zhang

1

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4 August 2017

Inga Nowak

series ordinal

2

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4 August 2017

Diane Rushlow

series ordinal

3

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4 August 2017

Dietmar R Lohmann

series ordinal

5

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4 August 2017

publication date

1 April 2008

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4 August 2017

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4 August 2017

volume

29

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4 August 2017

issue

4

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4 August 2017

page(s)

475-484

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Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implications.

4 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20664

Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.

21 January 2018

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Alternative splicing: multiple control mechanisms and involvement in human disease

21 January 2018

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Comparative analysis detects dependencies among the 5' splice-site positions

21 January 2018

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Listening to silence and understanding nonsense: exonic mutations that affect splicing

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.20664

Functional analysis of the polypyrimidine tract in pre-mRNA splicing

21 January 2018

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Functional significance of a deep intronic mutation in the ATM gene and evidence for an alternative exon 28a.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.20664

Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.20664

Identification of germline and somatic mutations affecting the retinoblastoma gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20664

Pre-mRNA splicing and human disease

21 January 2018

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Nonsense-mediated mRNA decay in health and disease

21 January 2018

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A perfect message: RNA surveillance and nonsense-mediated decay

21 January 2018

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Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF.

21 January 2018

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Phenotypic consequences of branch point substitutions

21 January 2018

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Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing

21 January 2018

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Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma

21 January 2018

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Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.20664

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.20664

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.20664

Two novel germline mutations of the retinoblastoma gene (RB1) that show incomplete penetrance, one splice site and one missense

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20664

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20664

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

21 January 2018

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

21 January 2018

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Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia

21 January 2018

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

21 January 2018

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Aberrant 3' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization

21 January 2018

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Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes

21 January 2018

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Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.20664

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20664

Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20664

A compensatory base change in human U2 snRNA can suppress a branch site mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20664

Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20664

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20664

Unilateral retinoblastoma, lack of familial history and older age does not exclude germline RB1 gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20664

7 January 2021

RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20664

7 January 2021

A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20664

7 January 2021

A Novel Mutation in the Cystic Fibrosis Gene in Patients with Pulmonary Disease but Normal Sweat Chloride Concentrations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20664

7 January 2021

Human-mouse comparative analysis reveals that branch-site plasticity contributes to splicing regulation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20664

7 January 2021

Branch site haplotypes that control alternative splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20664

7 January 2021

Common delta2 and delta8 RB1 variants in human breast and prostate tissues

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20664

7 January 2021

Nonsense codons in human beta-globin mRNA result in the production of mRNA degradation products

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20664

7 January 2021

Phenotypic variability in two families with novel splice-site and frameshift NF2 mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20664

7 January 2021

Mutations that alter RNA splicing of the human HPRT gene: a review of the spectrum

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20664

7 January 2021

A splicing mutation in RB1 in low penetrance retinoblastoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20664

7 January 2021

Genotype-phenotype correlations in hereditary familial retinoblastoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20664

7 January 2021

Identifiers

DOI

10.1002/HUMU.20664

1 reference

release_3fmwwz3mhne4bph76znpsgskjy

4 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/3fmwwz3mhne4bph76znpsgskjy

24 November 2022

mapped directly with Wikidata item

1 reference