Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma.
about
Apoptosis induced by the nuclear death domain protein p84N5 is inhibited by association with Rb proteinSensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastomaAPC/C and retinoblastoma interaction: cross-talk of retinoblastoma protein with the ubiquitin proteasome pathwayGenetic interaction between Rb and K-ras in the control of differentiation and tumor suppressionThe retinoblastoma tumor-suppressor gene, the exception that proves the ruleIdentification of RB1 germline mutations in Argentinian families with sporadic bilateral retinoblastomaMutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counsellingGrowth suppression by an E2F-binding-defective retinoblastoma protein (RB): contribution from the RB C pocket.Low penetrance of retinoblastoma for p.V654L mutation of the RB1 gene.The retinoblastoma protein is linked to the activation of Ras.Temperature-sensitive RB mutations linked to incomplete penetrance of familial retinoblastoma in 12 families.Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumorsAn E2F binding-deficient Rb1 protein partially rescues developmental defects associated with Rb1 nullizygosity.Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling.Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression.The RB-E2F1 pathway regulates autophagy.Stable binding to E2F is not required for the retinoblastoma protein to activate transcription, promote differentiation, and suppress tumor cell growth.Deletion of RB exons 24 and 25 causes low-penetrance retinoblastomaIdentification of three novel RB1 mutations in Brazilian patients with retinoblastoma by "exon by exon" PCR mediated SSCP analysisCost comparison of molecular versus conventional screening of relatives at risk for retinoblastoma.A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1De novo mutational profile in RB1 clarified using a mutation rate modeling algorithmThe RB1 gene mutation in a child with ectopic intracranial retinoblastomaMutations of N-terminal regions render the retinoblastoma protein insufficient for functions in development and tumor suppression.Incomplete penetrance of familial retinoblastoma linked to germ-line mutations that result in partial loss of RB functionLow-penetrant RB allele in small-cell cancer shows geldanamycin instability and discordant expression with mutant rasGermline mutations in retinoma patients: relevance to low-penetrance and low-expressivity molecular basis.A parent-of-origin effect in two families with retinoblastoma is associated with a distinct splice mutation in the RB1 gene.Somatic alterations in brain tumors.A tool for planning retinoblastoma services in sub-Saharan Africa.Incidence of second cancers after radiotherapy and systemic chemotherapy in heritable retinoblastoma survivors: A report from the German reference center.RB1 mutations and second primary malignancies after hereditary retinoblastoma.Hereditary nonpolyposis colorectal cancer: review of clinical, molecular genetics, and counseling aspects.Bilateral retinoblastoma in a male patient with an X; 13 translocation: evidence for silencing of the RB1 gene by the spreading of X inactivation.RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients.Spectrum of RB1 mutations in argentine patients: 20-years experience in the molecular diagnosis of retinoblastoma.The Retinoblastoma Gene in Myeloid Leukaemias.Retinoblastoma, the visible CNS tumor: A review.Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implications.A novel deep intronic low penetrance RB1 variant in a retinoblastoma family.
P2860
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P2860
Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma.
description
1994 nî lūn-bûn
@nan
1994 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma.
@ast
Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma.
@en
Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma.
@nl
type
label
Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma.
@ast
Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma.
@en
Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma.
@nl
prefLabel
Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma.
@ast
Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma.
@en
Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma.
@nl
P2093
P356
P1433
P1476
Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma.
@en
P2093
Horsthemke B
Lohmann DR
Passarge E
P2888
P304
P356
10.1007/BF00201591
P577
1994-10-01T00:00:00Z
P6179
1027070745