(Q37361983)

19 August 2017

0 references

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

1 reference

19 August 2017

1 reference

Martina Klutz

1

1 reference

19 August 2017

Dieter Brockmann

series ordinal

2

1 reference

19 August 2017

Dietmar R Lohmann

series ordinal

3

1 reference

19 August 2017

language of work or name

English

0 references

publication date

9 May 2002

1 reference

American Journal of Human Genetics

19 August 2017

1 reference

19 August 2017

71

1 reference

19 August 2017

1

1 reference

19 August 2017

174-179

1 reference

The imprinted gene and parent-of-origin effect database

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384976

Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384976

Nonsense-mediated mRNA decay in health and disease

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384976

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384976

A perfect message: RNA surveillance and nonsense-mediated decay

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384976

Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384976

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384976

Deletion of RB exons 24 and 25 causes low-penetrance retinoblastoma

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384976

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384976

The spectrum of RB1 germ-line mutations in hereditary retinoblastoma

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384976

The genetics of retinoblastoma, revisited

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384976

Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384976

Mutation and cancer: statistical study of retinoblastoma

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384976

Mutations in the RB1 gene and their effects on transcription

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384976

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384976

Genomic imprinting in hereditary glomus tumours: evidence for new genetic theory

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384976

Paternal selection favoring mutant alleles of the retinoblastoma susceptibility gene

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384976

The retinoblastoma protein and cell cycle regulation

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384976

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384976

A regulatory mechanism that detects premature nonsense codons in T-cell receptor transcripts in vivo is reversed by protein synthesis inhibitors in vitro

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384976

A study of retinoblastoma in Ohio

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384976

Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384976

Engineered mutants of pRB with improved growth suppression potential

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384976

Quantification of the paternal allele bias for new germline mutations in the retinoblastoma gene.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384976

Unbiased transmission of mutant alleles at the human retinoblastoma locus.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384976

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384976

The callipyge mutation enhances the expression of coregulated imprinted genes in cis without affecting their imprinting status

2 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12016586

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A high-density genetic map of the chromosome 13q14 atopy locus

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12016586

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Retinoblastoma in Hungary, 1960-1968

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12016586

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/341284

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

12016586

1 reference