T J Vulliamy - JoVE Visualize

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Nature Genetics|May 20, 1998

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functionsN S Heiss, S W Knight, T J Vulliamy, et al.

American Journal of Human Genetics|May 1, 1988

An extensive search for RFLP in the human glucose-6-phosphate dehydrogenase locus has revealed a silent mutation in the coding sequenceM D'Urso, L Luzzatto, L Perroni, et al.

Proceedings of the National Academy of Sciences of the United States of America|July 1, 1988

Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemiaT J Vulliamy, M D'Urso, G Battistuzzi, et al.

Blood|April 1, 1996

Glucose 6-phosphate dehydrogenase mutations causing enzyme deficiency in a model of the tertiary structure of the human enzymeC E Naylor, P Rowland, A K Basak, et al.

Journal of Medical Genetics|December 24, 1998

1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysisS W Knight, T J Vulliamy, N S Heiss, et al.

British Journal of Haematology|July 23, 1998

Clinical and haematological consequences of recurrent G6PD mutations and a single new mutation causing chronic nonspherocytic haemolytic anaemiaT J Vulliamy, J S Kaeda, D Ait-Chafa, et al.

American Journal of Human Genetics|June 12, 1999

X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 geneS W Knight, N S Heiss, T J Vulliamy, et al.

American Journal of Human Genetics|December 1, 1995

A new glucose-6-phosphate dehydrogenase variant, G6PD Orissa (44 Ala-->Gly), is the major polymorphic variant in tribal populations in IndiaJ S Kaeda, G P Chhotray, M R Ranjit, et al.

British Journal of Haematology|December 3, 1999

Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1S W Knight, N S Heiss, T J Vulliamy, et al.

Human Heredity|May 1, 1996

Molecular characterization of erythrocyte glucose-6-phosphate dehydrogenase deficiency in Al-Ain District, United Arab EmiratesR A Bayoumi, M S Nur-E-Kamal, M Tadayyon, et al.

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Showing results (21-30 of 31) with videos related to

Sort By:

Pageof 4

Nature Genetics|May 20, 1998

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functionsN S Heiss, S W Knight, T J Vulliamy, et al.

American Journal of Human Genetics|May 1, 1988

An extensive search for RFLP in the human glucose-6-phosphate dehydrogenase locus has revealed a silent mutation in the coding sequenceM D'Urso, L Luzzatto, L Perroni, et al.

Proceedings of the National Academy of Sciences of the United States of America|July 1, 1988

Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemiaT J Vulliamy, M D'Urso, G Battistuzzi, et al.

Blood|April 1, 1996

Glucose 6-phosphate dehydrogenase mutations causing enzyme deficiency in a model of the tertiary structure of the human enzymeC E Naylor, P Rowland, A K Basak, et al.

Journal of Medical Genetics|December 24, 1998

1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysisS W Knight, T J Vulliamy, N S Heiss, et al.

British Journal of Haematology|July 23, 1998

Clinical and haematological consequences of recurrent G6PD mutations and a single new mutation causing chronic nonspherocytic haemolytic anaemiaT J Vulliamy, J S Kaeda, D Ait-Chafa, et al.

American Journal of Human Genetics|June 12, 1999

X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 geneS W Knight, N S Heiss, T J Vulliamy, et al.

American Journal of Human Genetics|December 1, 1995

A new glucose-6-phosphate dehydrogenase variant, G6PD Orissa (44 Ala-->Gly), is the major polymorphic variant in tribal populations in IndiaJ S Kaeda, G P Chhotray, M R Ranjit, et al.

British Journal of Haematology|December 3, 1999

Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1S W Knight, N S Heiss, T J Vulliamy, et al.

Human Heredity|May 1, 1996

Molecular characterization of erythrocyte glucose-6-phosphate dehydrogenase deficiency in Al-Ain District, United Arab EmiratesR A Bayoumi, M S Nur-E-Kamal, M Tadayyon, et al.

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