Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma (Q35249177)

7 August 2017

title

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

1 reference

7 August 2017

1 reference

Lohmann DR

1

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7 August 2017

Gerick M

2

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7 August 2017

Brandt B

3

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7 August 2017

Oelschläger U

4

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7 August 2017

Lorenz B

5

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7 August 2017

Passarge E

6

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7 August 2017

Horsthemke B

7

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7 August 2017

language of work or name

English

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publication date

1 August 1997

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American Journal of Human Genetics

7 August 2017

published in

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7 August 2017

volume

61

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7 August 2017

issue

2

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7 August 2017

page(s)

282-294

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

7 August 2017

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12 July 2018

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12 July 2018

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12 July 2018

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12 July 2018

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12 July 2018

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12 July 2018

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12 July 2018

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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

12 July 2018

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

26 September 2018

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

26 September 2018

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

26 September 2018

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

26 September 2018

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12 December 2020

Hereditary retinoblastoma: penetrance, expressivity and age of onset

1 reference

12 December 2020

Genetics of retinoblastoma

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12 December 2020

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

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12 December 2020

Frequency of 13q abnormalities among 203 patients with retinoblastoma

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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Frequency and parental origin of hypermethylated RB1 alleles in retinoblastoma

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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

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

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

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

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12 December 2020

Identifiers

DOI

10.1086/514845

1 reference

release_5t2bfnpkhraork7ixlo7m6ze34

7 August 2017

Fatcat ID

1 reference

Fatcat

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

24 November 2022

mapped directly with Wikidata item

PMC publication ID

1715910

1 reference

7 August 2017

1 reference