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Omics score: 1004

Bilkent University

ABSTRACT: Bilkent University - the first private, nonprofit university in Turkey - was founded on October 20, 1984, by Professor Ihsan DoGramacI, M.D., with the fundamental aim of creating a center of excellence in higher education and research. The Department of Molecular Biology and Genetics provides undergraduate and graduate courses in basic and applied areas of molecular biology and genetics. The department is equipped with modern facilities for gene analysis, cell biology, protein chemistry, recombinant DNA technology and animal experiments. The education is research oriented. The main research activities of the department are on molecular genetics, molecular biology, molecular cell biology, molecular virology, molecular immunology, structure-function relationship of proteins and new biotechnologies.

PROVIDER: EGAO00000000026 | EGA |

REPOSITORIES: EGA

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Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred.

Gulsuner Suleyman S Tekinay Ayse Begum AB Doerschner Katja K Boyaci Huseyin H Bilguvar Kaya K Unal Hilal H Ors Aslihan A Onat O Emre OE Atalar Ergin E Basak A Nazli AN Topaloglu Haluk H Kansu Tulay T Tan Meliha M Tan Uner U Gunel Murat M Ozcelik Tayfun T

Genome research 20110901 12

The biological basis for the development of the cerebro-cerebellar structures required for posture and gait in humans is poorly understood. We investigated a large consanguineous family from Turkey exhibiting an extremely rare phenotype associated with quadrupedal locomotion, mental retardation, and cerebro-cerebellar hypoplasia, linked to a 7.1-Mb region of homozygosity on chromosome 17p13.1-13.3. Diffusion weighted imaging and fiber tractography of the patients' brains revealed morphological a ...[more]

PMID: 21885617

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