✦ LIBER ✦

Spectrum and Frequencies of RB1 Structural Defects in Retinoblastoma

✍ Scribed by O. V. Babenko; S. V. Saakyan; A. F. Brovkina; V. M. Kozlova; V. V. Strelnikov; D. V. Zaletaev; M. V. Nemtsova

Book ID: 110391122
Publisher: SP MAIK Nauka/Interperiodica
Year: 2002
Tongue: English
Weight: 63 KB
Volume: 36
Category: Article
ISSN: 0026-8933
DOI: 10.1023/a:1019844125275

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

RB1 and CDKN2A Functional Defects Result

RB1 and CDKN2A Functional Defects Resulting in Retinoblastoma

✍ O. V. Babenko; V. V. Zemlyakova; S. V. Saakyan; A. F. Brovkina; V. V. Strelnikov 📂 Article 📅 2002 🏛 SP MAIK Nauka/Interperiodica 🌐 English ⚖ 48 KB

Frequency and parental origin of hyperme

Frequency and parental origin of hypermethylated RB1 alleles in retinoblastoma

✍ Valerie Greger; Nils Debus; Dietmar Lohmann; Wolfgang Höpping; Eberhard Passarge 📂 Article 📅 1994 🏛 Springer 🌐 English ⚖ 674 KB

The retinoblastoma susceptibility (RB1) gene contains an unmethylated CpG-rich island at its 5' end. Using methylation-sensitive restriction enzymes, we have investigated the methylation status of this island in 21 sporadic unilateral retinoblastomas and 30 hereditary retinoblastomas. Three sporadic

Spectrum of germline RB1 gene mutations

Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implications

✍ Javier Alonso; Purificación García-Miguel; José Abelairas; Marta Mendiola; Enric 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 374 KB 👁 1 views

Mutation analysis of retinoblastoma is considered important for genetic counseling purposes, as well as for understanding the molecular mechanisms leading to tumors with different degrees of penetrance or expressivity. In the course of an analysis of 43 hereditary retinoblastoma Spanish patients and

Detection of mosaic RB1 mutations in fam

Detection of mosaic RB1 mutations in families with retinoblastoma

✍ Diane Rushlow; Beata Piovesan; Katherine Zhang; Nadia L. Prigoda-Lee; Mellone N. 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 327 KB

The RB1 gene mutation detection rate in 1,020 retinoblastoma families was increased by the use of highly sensitive allele specific-PCR (AS-PCR) to detect low-level mosaicism for 11 recurrent RB1 CGA>TGA nonsense mutations. For bilaterally affected probands, AS-PCR increased the RB1 mutation detectio

Spectrum of gross deletions and insertio

Spectrum of gross deletions and insertions in the RB1 gene in patients with retinoblastoma and association with phenotypic expression

✍ P. Albrecht; B. Ansperger-Rescher; A. Schüler; M. Zeschnigk; B. Gallie; D.R. Loh 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 589 KB

## Communicated by David N. Cooper Quantitative multiplex PCR and genomic real-time PCR were used to complete an RB1 mutation analysis in 57 of 433 and 72 of 262 patients with hereditary and isolated unilateral retinoblastoma, respectively. These patients were selected because in previous analyses

Identification of four novel RB1 germlin

Identification of four novel RB1 germline mutations in Korean retinoblastoma patients

✍ Young Suk Yu; Il-Jin Kim; Ja-Lok Ku; Jae-Gahb Park 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 37 KB

To elucidate RB1 germline mutations in Korean retinoblastoma patients, DNA samples from 14 children with bilateral (including three familial cases) and 19 children with u nilateral retinoblastoma were analyzed. We found germline mutations in three out of 14 bilateral cases and one out of 19 unilater