P. G. Gallagher

Imaging of the diffusion of single band 3 molecules on normal and mutant erythrocytes (2009)

Kodippili, G. C., Spector, J., Sullivan, C., Kuypers, F. A., Labotka, R., Gallagher, P. G., ...

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 mutation.

Garbarz, M, Tse, W T, Gallagher, P G, Picat, C, Lecomte, M C, Galibert, F, ...

The molecular defect responsible for the shortened beta-spectrin chain variant, spectrin Rouen, was identified by analysis of cDNA and genomic DNA of affected individuals after amplification by the...

Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene.

Gallagher, P G, Weed, S A, Tse, W T, Benoit, L, Morrow, J S, Marchesi, S L, ...

We studied a kindred in which four third-trimester fetal losses occurred, associated with severe Coombs-negative hemolytic anemia and hydrops fetalis. Postmortem examination of two infants revealed...

A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin.

Gallagher, P G, Tse, W T, Coetzer, T, Lecomte, M C, Garbarz, M, Zarkowsky, H S, ...

We studied nine individuals from five unrelated families with alpha I/46-50a hereditary elliptocytosis (HE) or hereditary pyropoikilocytosis (HPP), including one of the original HHP probands first...

A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis.

Jenkins, P B, Abou-Alfa, G K, Dhermy, D, Bursaux, E, Féo, C, Scarpa, A L, ...

We studied a French kindred with typical hereditary spherocytosis (HS). Studies of erythrocytes and erythrocyte membranes from HS individuals revealed abnormal erythrocyte membrane mechanical...

Mutation of a highly conserved residue of betaI spectrin associated with fatal and near-fatal neonatal hemolytic anemia.

Gallagher, P G, Petruzzi, M J, Weed, S A, Zhang, Z, Marchesi, S L, Mohandas, N, ...

We studied an infant with severe nonimmune hemolytic anemia and hydrops fetalis at birth. His neonatal course was marked by ongoing hemolysis of undetermined etiology requiring repeated erythrocyte...

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 mutation.

Garbarz, M, Tse, W T, Gallagher, P G, Picat, C, Lecomte, M C, Galibert, F, ...

The molecular defect responsible for the shortened beta-spectrin chain variant, spectrin Rouen, was identified by analysis of cDNA and genomic DNA of affected individuals after amplification by the...

Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene.

Gallagher, P G, Weed, S A, Tse, W T, Benoit, L, Morrow, J S, Marchesi, S L, ...

We studied a kindred in which four third-trimester fetal losses occurred, associated with severe Coombs-negative hemolytic anemia and hydrops fetalis. Postmortem examination of two infants revealed...

A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin.

Gallagher, P G, Tse, W T, Coetzer, T, Lecomte, M C, Garbarz, M, Zarkowsky, H S, ...

We studied nine individuals from five unrelated families with alpha I/46-50a hereditary elliptocytosis (HE) or hereditary pyropoikilocytosis (HPP), including one of the original HHP probands first...

A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis.

Jenkins, P B, Abou-Alfa, G K, Dhermy, D, Bursaux, E, Féo, C, Scarpa, A L, ...

We studied a French kindred with typical hereditary spherocytosis (HS). Studies of erythrocytes and erythrocyte membranes from HS individuals revealed abnormal erythrocyte membrane mechanical...

Mutation of a highly conserved residue of betaI spectrin associated with fatal and near-fatal neonatal hemolytic anemia.

Gallagher, P G, Petruzzi, M J, Weed, S A, Zhang, Z, Marchesi, S L, Mohandas, N, ...

We studied an infant with severe nonimmune hemolytic anemia and hydrops fetalis at birth. His neonatal course was marked by ongoing hemolysis of undetermined etiology requiring repeated erythrocyte...

Molecular basis and haplotyping of the alphaII domain polymorphisms of spectrin: application to the study of hereditary elliptocytosis and pyropoikilocytosis.

Gallagher, P. G., Kotula, L., Wang, Y., Marchesi, S. L., Curtis, P. J., Speicher, D. W., ...

Hereditary elliptocytosis (HE) and hereditary pyropoikilocytosis (HPP) are inherited disorders of erythrocyte shape that are frequently associated with abnormalities in alpha-spectrin, one of the...

Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?

Jonsson, J J, Renieri, A, Gallagher, P G, Kashtan, C E, Cherniske, E M, Bruttini, M, ...

We describe a family with four members, a mother, two sons, and a daughter, who show clinical features consistent with X linked Alport syndrome. The two males presented with additional features...