Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implications. (Q48368986)

11 February 2018

title

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

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11 February 2018

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Alonso J

1

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García-Miguel P

2

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Abelairas J

3

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Mendiola M

4

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Sarret E

5

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Vendrell MT

6

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Navajas A

7

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Pestaña A

8

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publication date

1 May 2001

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published in

Human Mutation

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volume

17

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page(s)

412-422

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issue

5

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Expression of recessive alleles by chromosomal mechanisms in retinoblastoma

cites work

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Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

21 January 2018

1 reference

Mutations in the RB1 gene and their effects on transcription

21 January 2018

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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

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Isolation of MutSbeta from human cells and comparison of the mismatch repair specificities of MutSbeta and MutSalpha

21 January 2018

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Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products

21 January 2018

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Mutation and cancer: statistical study of retinoblastoma

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Eukaryotic DNA mismatch repair

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DNA repair protects against cutaneous and internal neoplasia: evidence from xeroderma pigmentosum

21 January 2018

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Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

21 January 2018

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Structure of the retinoblastoma tumour-suppressor pocket domain bound to a peptide from HPV E7

21 January 2018

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Genetic instabilities in human cancers

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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Frameshift mismatch recognition by the human MutS alpha complex.

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa

21 January 2018

1 reference

Evidence of somatic and germinal mosaicism in pseudo-low-penetrant hereditary retinoblastoma, by constitutional and single-sperm mutation analysis

21 January 2018

1 reference

Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype

21 January 2018

1 reference

Incomplete penetrance of familial retinoblastoma linked to germ-line mutations that result in partial loss of RB function

21 January 2018

1 reference

Temperature-sensitive RB mutations linked to incomplete penetrance of familial retinoblastoma in 12 families

21 January 2018

1 reference

Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project

21 January 2018

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

21 January 2018

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Predicting internal exons by oligonucleotide composition and discriminant analysis of spliceable open reading frames

21 January 2018

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Polypurine sequences within a downstream exon function as a splicing enhancer

21 January 2018

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21 January 2018

DNA repair in eukaryotes

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Mutations of the human P gene associated with Type II oculocutaneous albinism (OCA2). Mutations in brief no. 205. Online

21 January 2018

1 reference

A novel complex mutation in exon 8 of RB1 in a case of isolated bilateral retinoblastoma

21 January 2018

1 reference

Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma

21 January 2018

1 reference

A novel missense mutation in patients from a retinoblastoma pedigree showing only mild expression of the tumor phenotype

21 January 2018

1 reference

Overview of RB gene mutations in patients with retinoblastoma. Implications for clinical genetic screening

21 January 2018

1 reference

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

21 January 2018

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A splicing mutation in RB1 in low penetrance retinoblastoma

21 January 2018

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Twelve novel RB1 gene mutations in patients with hereditary retinoblastoma. Mutations in brief no. 206. Online

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/HUMU.1117

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11 February 2018

release_6mabixtrbvdq3jhhgv2rxlnygm

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/6mabixtrbvdq3jhhgv2rxlnygm

mapped directly with Wikidata item

24 November 2022

based on heuristic

PubMed ID

11317357

1 reference

11 February 2018