Pages that link to "Q48368986"

The following pages link to Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implications (Q48368986):

Displaying 32 items.

• Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia. (Q24531976) (← links)
• RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database (Q24813953) (← links)
• Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling (Q33757922) (← links)
• A comprehensive, sensitive and economical approach for the detection of mutations in the RB1 gene in retinoblastoma. (Q34093930) (← links)
• RB1 gene mutations in retinoblastoma and its clinical correlation (Q34365244) (← links)
• Nonsense-mediated decay in genetic disease: friend or foe? (Q34658988) (← links)
• Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression (Q34734030) (← links)
• Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma (Q35648428) (← links)
• Spectrum of germ-line RB1 gene mutations in Malaysian patients with retinoblastoma (Q36161611) (← links)
• Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease (Q36498954) (← links)
• Molecular biology of retinoblastoma (Q37217003) (← links)
• Pattern of sequence variation across 213 environmental response genes (Q37593006) (← links)
• Tocotrienol Treatment in Familial Dysautonomia: Open-Label Pilot Study (Q38873812) (← links)
• Mutational analysis of the RB1 gene in Indian patients with retinoblastoma (Q44108794) (← links)
• Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF. (Q44727693) (← links)
• Two independent RB1-inactivating mutations in peripheral blood DNA of a hereditary retinoblastoma patient. (Q44893071) (← links)
• Conservation of the RB1 gene in human and primates (Q46410287) (← links)
• Molecular-genetic analysis of two cases with retinoblastoma: benefits for disease management (Q47372059) (← links)
• Mutational analysis of the RB1 gene and the inheritance patterns of retinoblastoma in Jordan. (Q47959440) (← links)
• Familial retinoblastoma due to intronic LINE-1 insertion causes aberrant and noncanonical mRNA splicing of the RB1 gene. (Q50270005) (← links)
• Survival and clinical features of retinoblastoma (Q50324930) (← links)
• Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma (Q50714664) (← links)
• Retinoblastoma (RB1) pocket domain mutations and promoter hyper-methylation in head and neck cancer. (Q53045539) (← links)
• Low penetrance hereditary retinoblastoma in a family: what should we consider in the genetic counselling process and follow up? (Q54374970) (← links)
• [The role of molecular genetics in childhood cancer] (Q54751602) (← links)
• Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations (Q61974522) (← links)
• New RB1 oncogenic mutations and intronic polymorphisms in Serbian retinoblastoma patients: genetic counseling implications. (Q64950933) (← links)
• Identification of novel mutations in the RB1 gene in Mexican patients with retinoblastoma (Q78483036) (← links)
• Ethnic variations of a retinoblastoma susceptibility gene (RB1) polymorphism in eight Asian populations (Q79314231) (← links)
• Genotype-phenotype correlations in hereditary familial retinoblastoma (Q79346049) (← links)
• Biology and therapy of malignant solid tumors in childhood (Q80510573) (← links)
• Frequency of low-level and high-level mosaicism in sporadic retinoblastoma: genotype-phenotype relationships (Q91474417) (← links)