Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Pakistan Genetic Mutation Database (PGMD); A centralized Pakistani mutome data source.
Eur J Med Genet
April 2018
Department of Biotechnology & Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan. Electronic address:
The development and advancement of next generation sequencing have not only sped up the process of identifying rare variants, but have also enabled scientists to explore all variants in a single individual. The Pakistani population has a high ratio of first degree consanguinity, which is why it is a rich source for various kinds of genetic disorders. Due to the heterogeneous composition of Pakistani population, the likelihood of genetic heterogeneity for each disorder is high.
View Article and Find Full Text PDF[Li-Fraumeni syndrome: clinico-molecular diagnostics and medico-genetic counseling].
Vestn Ross Akad Med Nauk
April 2012
Li-Fraumeni syndrome (sarcoma family syndrome, OMIM 151623) is a rare clinically and genetically hetergoeneous autosomal dominant disorder characterized by the evolvement and accumulation of soft-tissue osteogenic sarcomas in members of a family, as well as uni- and bilateral breast cancer in young women, brain tumours, adrenocortical cancer, and lymphoproliferative diseases. Germinal mutations of the TP53 gene constitute the etiological genetic basis of Li-Fraumeni syndrome. American Society of Clinical Oncology (ASCO) and National Comprehensive Cancer Network developed recommendations for genetic testing and observation of carriers of TP53 mutations.
View Article and Find Full Text PDFDigital images of the iris were received for study peculiarities of the iris color during the anthropological examination of 578 students aged 16-24 years. Simultaneously with the registration of the digital images, the visual assessment of the eye color was carried out using the traditional scale of Bunak, based on 12 ocular prostheses. Original software for automatic determination of the iris color based on 12 classes scale of Bunak was designed, and computer version of that scale was developed.
View Article and Find Full Text PDF[Organization of medico-genetic counseling for hereditary hearing impairment].
Vestn Otorinolaringol
June 2009
High frequency of hereditary pathologies resulting in congenital and prelingual auditory inefficiency necessitates organization of readily available medico-genetic counseling services based at specialized centres and an integrated dispensary system for the observation of families at risk of hereditary hearing impairment and identification of high-risk groups among the general population. Correct clinical diagnosis provides a basis for the strategy of molecular-genetic examination of a given patient and members of his (her) family. Results of the examination can be used for family planning and the choice of measures for the prevention of recurrent cases.
View Article and Find Full Text PDF[Practical medico-genetic counseling for congenital and early loss of hearing in children].
Vestn Otorinolaringol
December 2008
Current knowledge of hereditary loss of hearing provides a basis for effective diagnosis and prevention of hearing disorder. There is a little doubt of the necessity of medico-genetic counseling (MGC) for families facing this with problem. New molecular methods for the detection of its causes give hope to many couples in terms of rational family planning.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!