(Q35889146)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8304343%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

title

The genetics of retinoblastoma, revisited (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8304343%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8304343%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

author name string

Sapienza C

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8304343%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

language of work or name

English

0 references

publication date

1 February 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8304343%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

29 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8304343%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

volume

54

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8304343%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8304343%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

page(s)

264-273

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8304343%20AND%20SRC:MED&resulttype=core&format=json

THE GENETICS OF RETINOBLASTOMA.

29 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Genetics of retinoblastoma.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

CHROMOSOME DELETION IN A CASE OF RETINOBLASTOMA.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Microsatellite instability in cancer of the proximal colon

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Clues to the pathogenesis of familial colorectal cancer

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Mortality from second tumors among long-term survivors of retinoblastoma

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Concordance between parental origin of chromosome 13q loss and chromosome 6p duplication in sporadic retinoblastoma

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Molecular etiology of low-penetrance retinoblastoma in two pedigrees.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

The incidence and epidemiology of retinoblastoma in New Zealand: A 30-year survey

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Completion of mouse embryogenesis requires both the maternal and paternal genomes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Development of reconstituted mouse eggs suggests imprinting of the genome during gametogenesis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Sex ratio at birth in territories with a relatively complete registration

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Retinoblastoma in Nigeria: problems of treatment.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Retinoblastoma among offspring of adult survivors in Denmark

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Retinoblastoma. A review of ten years

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Retinoblastoma in the Republic of Ireland. (1955-70)

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Mutation and cancer: statistical study of retinoblastoma

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Retinoblastoma. Report on 19 patients treated with radio- therapy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

A detailed analysis of chromosomal changes in heritable and non-heritable retinoblastoma.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Genetic origin of mutations predisposing to retinoblastoma

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

A case report of a patient with retinoblastoma and chromosome 13q deletion: assignment of a new gene (gene for LCP1) on human chromosome 13.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Proposed mechanism of inheritance and expression of the human fragile-X syndrome of mental retardation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

A chromosomal breakpoint that separates the esterase D and retinoblastoma predisposition loci in a patient with del(13)(q14q31).

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Retinoblastoma in Great Britain 1969-80: incidence, treatment, and survival

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Retinoblastoma and the progression of tumor genetics

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Constitutional karyotype in retinoblastoma. Case report and review of literature

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Retinoblastoma. Analysis of 75 cases and proposal for a new model of oncogenesis and tumor growth kinetics

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Clinical presentation, treatment, and outcome of trilateral retinoblastoma

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Preferential retention of paternal alleles in human retinoblastoma: evidence for genomic imprinting.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Somatic mosaicism in a patient with bilateral retinoblastoma

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Interspecific backcross mice show sex-specific differences in allelic inheritance

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Paternal selection favoring mutant alleles of the retinoblastoma susceptibility gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Mechanisms of loss of heterozygosity in retinoblastoma

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

The polar-lethal Ovum mutant gene maps to the distal portion of mouse chromosome 11

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Follow-up of retinoblastoma patients having prenatal and perinatal predictions for mutant gene carrier status using intragenic polymorphic probes from the RB1 gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

The Incidence of Retinoblastoma

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Genesis and Genetics of Retinoblastoma

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Incidence of retinoblastoma in Malawi

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Sporadic bilateral retinoblastoma and 13q- chromosomal deletion

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Chromosomal anomalies in patients with retinoblastoma

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Retinoblastoma and partial deletion of the long arm of chromosome 13

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

A case of bilateral retinoblastoma with monosomy 13 (q12 leads to 114) (author's transl)

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Factors for Improved Genetic Counseling for Retinoblastoma Based on a Survey of 55 Families

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

The Costenbader Memorial Lecture Genesis and Genetics of Retinoblastoma

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Mutational mosaicism and genetic counseling in retinoblastoma

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Inheritance of Retinoblastoma in Ohio

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Bilateral retinoblastoma in Denmark, 1928-1957.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Retinoblastoma and its association with a deletion in chromosome #13: a survey using high-resolution chromosome techniques.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Familial, EsD-linked, retinoblastoma with reduced penetrance and variable expressivity.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Retinoblastoma in Denmark, 1943-1958. A clinical, histopathological, and prognostic study

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Retinoblastoma and long arm delection of chromosome 13. Attempts to define the deleted segment

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Esterase D assay in Brazilian retinoblastoma families

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Preferential germline mutation of the paternal allele in retinoblastoma

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918175

Observations on retinoblastoma

14 November 2018

1 reference

12 December 2020

Dq-, Dr and retinoblastoma

1 reference

12 December 2020

Retinoblastoma in Sweden 1958--1971. A clinical and histopathological study

1 reference

12 December 2020

Detection of small RB1 gene deletions in retinoblastoma by multiplex PCR and high-resolution gel electrophoresis

1 reference

12 December 2020

Chromosome studies in patients with retinoblastoma

1 reference

12 December 2020

Different numbers of maternal and paternal siblings of cystic fibrosis patients

1 reference

12 December 2020

Parental origin of mutations of the retinoblastoma gene

1 reference

12 December 2020

Retinoblastoma in a boy with a de novo mutation of a 13/18 translocation: the assumption that the retinoblastoma locus is at 13q141, particularly at the distal portion of it

1 reference

12 December 2020

A study of retinoblastoma

1 reference

12 December 2020

Sex-linked dosage-sensitive modifiers as imprinting genes

1 reference

12 December 2020

Treatment of trilateral retinoblastoma with vincristine and cyclophosphamide

1 reference

12 December 2020

Retinoblastoma: epidemiologic characteristics

1 reference

12 December 2020

Advanced retinoblastoma in Malaysian children

1 reference

12 December 2020

Use of the RB1 cDNA as a diagnostic probe in retinoblastoma families

1 reference

12 December 2020

A decreasing tendency for cytogenetic abnormality in peripheral lymphocytes of retinoblastoma patients with 13q14 deletion mosaicism

1 reference

12 December 2020

Retinoblastoma-del(13q14): Report of two patients, one with a trisomic sib due to maternal insertion. Gene-dosage effect for esterase D

1 reference

12 December 2020

Retinoblastoma in Hungary, 1960-1968

1 reference

12 December 2020

Retinoblastoma: a study of natural history and prognosis of 268 cases

1 reference

12 December 2020

A familial RB1 mutation detected by the HOT technique is homozygous in a second primary neoplasm

1 reference

12 December 2020

Lymphocyte chromosome survey in 42 patients with retinoblastoma: Effort to detect 13q14 deletion mosaicism

1 reference

12 December 2020

Cystic fibrosis allele frequency, sex ratio anomalies and fertility: a new theory for the dissemination of mutant alleles

1 reference

12 December 2020

Bilateral Retinoblastoma: A Dominantly Inherited Affection

1 reference

12 December 2020

Dq-, multiple malformations and retinoblastoma

1 reference

12 December 2020

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

1 reference

12 December 2020

Spontaneous regression of retinoblastoma

1 reference

12 December 2020

[Retinoblastoma and interstitial deletion of 13q (author's transl)]

1 reference

12 December 2020

Cytogenetic forms of retinoblastoma: their incidence in a survey of 66 patients

1 reference

12 December 2020

Prediction of familial predisposition to retinoblastoma

1 reference

12 December 2020

Incidence and significance of a deletion of chromosome band 13q14 in patients with retinoblastoma and in their families

1 reference

12 December 2020

Separation of retinoblastoma and esterase D loci in a patient with sporadic retinoblastoma and del(13)(q14.1q22.3)

1 reference

12 December 2020

Chromosome studies in twelve patients with retinoblastoma

1 reference

12 December 2020

Is the interstitial deletion of 13q in retinoblastoma patients not transmissible?

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8304343%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

PubMed publication ID

8304343

1 reference