(Q35249177)

7 August 2017

Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma (English)

1 reference

7 August 2017

1 reference

Lohmann DR

1

1 reference

7 August 2017

Gerick M

2

1 reference

7 August 2017

Brandt B

3

1 reference

7 August 2017

Oelschläger U

4

1 reference

7 August 2017

Lorenz B

5

1 reference

7 August 2017

Passarge E

6

1 reference

7 August 2017

Horsthemke B

7

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 August 1997

1 reference

American Journal of Human Genetics

7 August 2017

1 reference

7 August 2017

61

1 reference

7 August 2017

282-294

1 reference

7 August 2017

2

1 reference

Three histopathological types of retinoblastoma and their relation to heredity and age of enucleation

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

Genomic imprinting of the human serotonin-receptor (HTR2) gene involved in development of retinoblastoma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

Cost comparison of molecular versus conventional screening of relatives at risk for retinoblastoma.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

Somatic mosaicism in a patient with neurofibromatosis type 1.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

Inherited breast and ovarian cancer.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

Molecular mechanisms of oncogenic mutations in tumors from patients with bilateral and unilateral retinoblastoma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

Detection of mutations of the RB1 gene in retinoblastoma patients by using exon-by-exon PCR-SSCP analysis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

Molecular etiology of low-penetrance retinoblastoma in two pedigrees.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

Sp1 elements protect a CpG island from de novo methylation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

Sp1 sites in the mouse aprt gene promoter are required to prevent methylation of the CpG island

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

Unilateral retinoblastoma: new intraocular tumours after treatment

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

Complete genomic sequence of the human retinoblastoma susceptibility gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

The 13q- syndrome: the molecular definition of a critical deletion region in band 13q32.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

Expression of recessive alleles by chromosomal mechanisms in retinoblastoma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

Mutation and cancer: statistical study of retinoblastoma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

A simplified scheme for genetic counseling in retinoblastoma.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

Types, rates, origin and expressivity of chromosome mutations involving 13q14 in retinoblastoma patients.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

Application of linkage analysis to genetic counselling in families with hereditary retinoblastoma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

Review and hypotheses: somatic mosaicism: observations related to clinical genetics

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

Mutagenesis by transient misalignment.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

Structural evidence for the authenticity of the human retinoblastoma gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

Mutations in the RB1 gene and their effects on transcription

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

Detection of DNA sequence polymorphisms by enzymatic amplification and direct genomic sequencing

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

Epigenetic changes may contribute to the formation and spontaneous regression of retinoblastoma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

Effect of 5' splice site mutations on splicing of the preceding intron

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

Frameshift mutation: determinants of specificity

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

Somatic mosaicism in a patient with bilateral retinoblastoma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

Allele-specific hypermethylation of the retinoblastoma tumor-suppressor gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

Patterns of risk of hereditary retinoblastoma and applications to genetic counselling

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

Mechanisms of loss of heterozygosity in retinoblastoma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

A simple and nonradioactive method for detecting the Rb1.20 DNA polymorphism in the retinoblastoma gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

Detection of heterozygous mutations in the RB1 gene in retinoblastoma patients using single-strand conformation polymorphism analysis and polymerase chain reaction sequencing

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

Delayed mutation as a cause of retinoblastoma: application to genetic counseling

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

Mutational mosaicism and genetic counseling in retinoblastoma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

A novel mutation in the promotor region in a family with a mild form of retinoblastoma indicates the location of a new regulatory domain for the RB1 gene.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715910

[Genetic study of retinoblastoma (author's transl)]

26 September 2018

1 reference

12 December 2020

Hereditary retinoblastoma: penetrance, expressivity and age of onset

1 reference

12 December 2020

Genetics of retinoblastoma

1 reference

12 December 2020

Bilateral retinoblastoma associated with 13q-mosaicism. Possible manifestation of a germinal mutation

1 reference

12 December 2020

Frequency of 13q abnormalities among 203 patients with retinoblastoma

1 reference

12 December 2020

Loss of heterozygosity on chromosome 13 and its association with delayed growth of retinoblastoma

1 reference

12 December 2020

Identification of germline mutations in the RB1 gene by denaturant gradient gel electrophoresis and polymerase chain reaction direct sequencing

1 reference

12 December 2020

Construction of a novel database containing aberrant splicing mutations of mammalian genes

1 reference

12 December 2020

Frequency and parental origin of hypermethylated RB1 alleles in retinoblastoma

1 reference

12 December 2020

Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma

1 reference

12 December 2020

Radial asymmetry in the topography of retinoblastoma. Clues to the cell of origin

1 reference

12 December 2020

Delayed development of retinoblastoma associated with loss of a maternal allele on chromosome 13

1 reference

12 December 2020

Constitutional nonsense germline mutations in the RB1 gene detected in patients with early onset unilateral retinoblastoma

1 reference

12 December 2020

Identifiers

DOI

10.1086/514845

1 reference

release_5t2bfnpkhraork7ixlo7m6ze34

7 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/5t2bfnpkhraork7ixlo7m6ze34

24 November 2022

mapped directly with Wikidata item

PMCID

1715910

1 reference

7 August 2017

1 reference