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D Dhermy

Showing results (81-90 of 109) with videos related to

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British Journal of Haematology|November 1, 1994
A variant of spectrin low-expression allele alpha LELY carrying a hereditary elliptocytosis mutation in codon 28J Randon, L Boulanger, J Marechal, et al.
British Journal of Haematology|February 5, 1998
A 5' splice region G-->C mutation in exon 3 of the human beta-spectrin gene leads to decreased levels of beta-spectrin mRNA and is responsible for dominant hereditary spherocytosis (spectrin Guemene-Penfao)M Garbarz, C Galand, D Bibas, et al.
Blood|July 1, 1994
Identification of three novel spectrin alpha I/74 mutations in hereditary elliptocytosis: further support for a triple-stranded folding unit model of the spectrin heterodimer contact siteN Parquet, I Devaux, L Boulanger, et al.
British Journal of Haematology|July 1, 1995
Ethnic distribution of allele alpha LELY, a low-expression allele of red-cell spectrin alpha-geneJ Maréchal, R Wilmotte, A Kanzaki, et al.
Blood|August 15, 1992
Spectrin beta Tandil, a novel shortened beta-chain variant associated with hereditary elliptocytosis is due to a deletional frameshift mutation in the beta-spectrin geneM Garbarz, L Boulanger, S Pedroni, et al.
The Journal of Clinical Investigation|July 1, 1991
Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutationM Garbarz, W T Tse, P G Gallagher, et al.
Comptes Rendus De L'Academie Des Sciences. Serie III, Sciences De La Vie|January 1, 1989
[Research on genetic abnormality in the hemolytic form of hereditary elliptocytosis with homozygosity for the spectrin alpha I/74 variant]M Garbarz, I Devaux, B Grandchamp, et al.
Nouvelle Revue Francaise D'Hematologie|January 1, 1986
Hereditary elliptocytosis: clinical, morphological and biochemical studies of 38 casesD Dhermy, M Garbarz, M C Lecomte, et al.
Blood|November 1, 1984
A variant of erythrocyte membrane skeletal protein band 4.1 associated with hereditary elliptocytosisM Garbarz, D Dhermy, M C Lecomte, et al.
Blood|January 1, 1995
A deletional frameshift mutation in protein 4.2 gene (allele 4.2 Lisboa) associated with hereditary hemolytic anemiaS Hayette, D Dhermy, M E dos Santos, et al.
Pageof 11

Showing results (81-90 of 109) with videos related to

Sort By:
Pageof 11
British Journal of Haematology|November 1, 1994
A variant of spectrin low-expression allele alpha LELY carrying a hereditary elliptocytosis mutation in codon 28J Randon, L Boulanger, J Marechal, et al.
British Journal of Haematology|February 5, 1998
A 5' splice region G-->C mutation in exon 3 of the human beta-spectrin gene leads to decreased levels of beta-spectrin mRNA and is responsible for dominant hereditary spherocytosis (spectrin Guemene-Penfao)M Garbarz, C Galand, D Bibas, et al.
Blood|July 1, 1994
Identification of three novel spectrin alpha I/74 mutations in hereditary elliptocytosis: further support for a triple-stranded folding unit model of the spectrin heterodimer contact siteN Parquet, I Devaux, L Boulanger, et al.
British Journal of Haematology|July 1, 1995
Ethnic distribution of allele alpha LELY, a low-expression allele of red-cell spectrin alpha-geneJ Maréchal, R Wilmotte, A Kanzaki, et al.
Blood|August 15, 1992
Spectrin beta Tandil, a novel shortened beta-chain variant associated with hereditary elliptocytosis is due to a deletional frameshift mutation in the beta-spectrin geneM Garbarz, L Boulanger, S Pedroni, et al.
The Journal of Clinical Investigation|July 1, 1991
Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutationM Garbarz, W T Tse, P G Gallagher, et al.
Comptes Rendus De L'Academie Des Sciences. Serie III, Sciences De La Vie|January 1, 1989
[Research on genetic abnormality in the hemolytic form of hereditary elliptocytosis with homozygosity for the spectrin alpha I/74 variant]M Garbarz, I Devaux, B Grandchamp, et al.
Nouvelle Revue Francaise D'Hematologie|January 1, 1986
Hereditary elliptocytosis: clinical, morphological and biochemical studies of 38 casesD Dhermy, M Garbarz, M C Lecomte, et al.
Blood|November 1, 1984
A variant of erythrocyte membrane skeletal protein band 4.1 associated with hereditary elliptocytosisM Garbarz, D Dhermy, M C Lecomte, et al.
Blood|January 1, 1995
A deletional frameshift mutation in protein 4.2 gene (allele 4.2 Lisboa) associated with hereditary hemolytic anemiaS Hayette, D Dhermy, M E dos Santos, et al.
Pageof 11