Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling. (Q34384790)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497263%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

title

Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling (English)

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10 November 2019

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2

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10 November 2019

Brenda L. Gallie

6

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10 November 2019

author name string

K C Sippel

1

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10 November 2019

G D Smith

3

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10 November 2019

M E Schalkoff

4

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10 November 2019

J Sutherland

5

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10 November 2019

T P Dryja

7

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10 November 2019

language of work or name

English

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publication date

1 March 1998

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American Journal of Human Genetics

10 November 2019

published in

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10 November 2019

volume

62

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10 November 2019

issue

3

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10 November 2019

page(s)

610-619

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

10 November 2019

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Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma

6 July 2018

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A deletion polymorphism due to Alu-Alu recombination in intron 2 of the retinoblastoma gene: association with human gliomas.

6 July 2018

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

6 July 2018

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Somatic mosaicism in a patient with neurofibromatosis type 1.

6 July 2018

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CpG methylation inactivates the promoter activity of the human retinoblastoma tumor-suppressor gene.

6 July 2018

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

6 July 2018

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Molecular etiology of low-penetrance retinoblastoma in two pedigrees.

6 July 2018

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

6 July 2018

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Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma

6 July 2018

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Complete genomic sequence of the human retinoblastoma susceptibility gene

6 July 2018

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Bilateral retinoblastoma with ectopic intracranial retinoblastoma: trilateral retinoblastoma.

6 July 2018

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Expression of recessive alleles by chromosomal mechanisms in retinoblastoma

6 July 2018

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Cloning of the esterase D gene: a polymorphic gene probe closely linked to the retinoblastoma locus on chromosome 13

6 July 2018

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

6 July 2018

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Predicting the risk of hereditary retinoblastoma

6 July 2018

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Human retinoblastoma susceptibility gene: genomic organization and analysis of heterozygous intragenic deletion mutants

6 July 2018

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

6 July 2018

1 reference

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Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations

6 July 2018

1 reference

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Constitutional karyotype in retinoblastoma. Case report and review of literature

6 July 2018

1 reference

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Semen manipulation: improved sperm recovery and function with a two-layer Percoll gradient

6 July 2018

1 reference

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Mutations in the RB1 gene and their effects on transcription

6 July 2018

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

6 July 2018

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Linkage analysis of families with hereditary retinoblastoma: nonpenetrance of mutation, revealed by combined use of markers within and flanking the RB1 gene

6 July 2018

1 reference

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Estimate of germinal mosaicism in Duchenne muscular dystrophy

6 July 2018

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Recurrence risk of a new dominant mutation in children of unaffected parents

6 July 2018

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PCR detection of the Tth 111 I RFLP at the RB locus

6 July 2018

1 reference

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Somatic mosaicism in a patient with bilateral retinoblastoma

6 July 2018

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Detection of the XbaI RFLP within the retinoblastoma locus by PCR.

6 July 2018

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Mini-Percoll: a new method of semen preparation for IVF in severe male factor infertility

6 July 2018

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Allele-specific hypermethylation of the retinoblastoma tumor-suppressor gene

6 July 2018

1 reference

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

6 July 2018

1 reference

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

6 July 2018

1 reference

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Mutational mosaicism and genetic counseling in retinoblastoma

6 July 2018

1 reference

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

6 July 2018

1 reference

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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.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376960

Partial inactivation of the RB product in a family with incomplete penetrance of familial retinoblastoma and benign retinal tumors.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376960

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376960

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376960

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376960

Neurofibromatosis Type 1 Due to Germ-Line Mosaicism in a Clinically Normal Father

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376960

Germline mosaicism and Duchenne muscular dystrophy mutations

9 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376960

The heredity of retinoblastoma

9 December 2018

1 reference

12 December 2020

Prediction of the Risk of Hereditary Retinoblastoma, Using DNA Polymorphisms within the Retinoblastoma Gene

1 reference

12 December 2020

Spontaneous mutation in man

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

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

1 reference

12 December 2020

Frequency and parental origin of hypermethylated RB1 alleles in retinoblastoma

1 reference

12 December 2020

Genetic and Clinical Mosaicism in a Type of Epidermal Nevus

1 reference

12 December 2020

The amino terminus of the retinoblastoma (Rb) protein associates with a cyclin-dependent kinase-like kinase via Rb amino acids required for growth suppression

1 reference

12 December 2020

Hypermethylation in the retinoblastoma gene is associated with unilateral, sporadic retinoblastoma

1 reference

12 December 2020

A splicing mutation in RB1 in low penetrance retinoblastoma

1 reference

12 December 2020

A case of retinoblastoma, associated with histiocytosis-X and mosaicism of a deleted D-group chromosome (13q14 leads to q31)

1 reference

12 December 2020

Somatic inactivation of genes on chromosome 13 is a common event in retinoblastoma

1 reference

12 December 2020

Homozygosity of chromosome 13 in retinoblastoma

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Identifiers

DOI

10.1086/301766

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497263%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497263%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

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