Code inside the codon: the role of synonymous mutations in regulating splicing machinery and its impact on disease
In eukaryotes, precise pre-mRNA processing, including alternative splicing, is essential to
carry out the intricate protein translation process. Both point mutations (that alter the …
carry out the intricate protein translation process. Both point mutations (that alter the …
Analysis of genotype–phenotype relationships in 90 Chinese probands with Waardenburg syndrome
G Wang, X Li, X Gao, Y Su, M Han, B Gao, C Guo… - Human Genetics, 2022 - Springer
Waardenburg syndrome (WS) is a phenotypically and genetically heterogeneous disorder
characterised by hearing loss and pigmentary abnormalities. We clarified the clinical and …
characterised by hearing loss and pigmentary abnormalities. We clarified the clinical and …
Waardenburg syndrome: the contribution of next-generation sequencing to the identification of novel causative variants
W Bertani-Torres, K Lezirovitz, D Alencar-Coutinho… - Audiology …, 2023 - mdpi.com
Waardenburg syndrome (WS) is characterized by hearing loss and pigmentary
abnormalities of the eyes, hair, and skin. The condition is genetically heterogeneous, and is …
abnormalities of the eyes, hair, and skin. The condition is genetically heterogeneous, and is …
Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families
L Wang, L Qin, T Li, H Liu, L Ma… - Molecular …, 2018 - spandidos-publications.com
Waardenburg syndrome (WS) is an auditory‑pigmentary disorder with varying combinations
of sensorineural hearing loss and abnormal pigmentation. The present study aimed to …
of sensorineural hearing loss and abnormal pigmentation. The present study aimed to …
Identification of Synonymous Pathogenic Variants in Monogenic Disorders by Integrating Exome with Transcriptome Sequencing
L Zhang, H Lou, Y Huang, L Dong, X Gong… - The Journal of Molecular …, 2024 - Elsevier
Exome sequencing is becoming a first-tier clinical diagnostic test for Mendelian diseases,
drastically reducing the time and cost of diagnostic odyssey and improving the diagnosis …
drastically reducing the time and cost of diagnostic odyssey and improving the diagnosis …
Silence is not always golden
MS Swanson - Genetic Testing and Molecular Biomarkers, 2011 - go.gale.com
CURRENT STRATEGIES FOR CLINICAL GENETIC testing for heritable disorders may fail to
detect an important set of pathogenic gene mutations. This deficiency reflects the facts that …
detect an important set of pathogenic gene mutations. This deficiency reflects the facts that …
Sequenciamento de nova geração e sua aplicação no estudo genético da síndrome de Waardenburg
WB Torres - 2019 - teses.usp.br
A síndrome de Waardenburg (SW) é caracterizada por perda auditiva ou surdez e
alterações pigmentares dos olhos, cabelo e pele. A incidência de todas as formas da SW é …
alterações pigmentares dos olhos, cabelo e pele. A incidência de todas as formas da SW é …