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18 results for author:"Alloisio N."Drop in Literature Citations

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Genome characteristics of facultatively symbiotic Frankia sp. strains reflect host range and host plant biogeography.

Normand P., Lapierre P., Tisa L.S., Gogarten J.P., Alloisio N., Bagnarol E., Bassi C.A., Berry A.M., Bickhart D.M., Choisne N. et al.

Genome Res. 17:7-15(2007) · UniProtKB (18,286)

Characterization of the sodF gene region of Frankia sp. strain ACN14a and complementation of Escherichia coli sod mutant.

Marechal J., Santos R., Hammad Y., Alloisio N., Domenach A.M., Normand P.

Can. J. Microbiol. 49:294-300(2003) · UniProtKB (10)

Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3.

Ribeiro M.L., Alloisio N., Almeida H., Gomes C., Texier P., Lemos C., Mimoso G., Morle L., Bey-Cabet F., Rudigoz R.-C. et al.

Blood 96:1602-1604(2000) · UniProtKB (1)

A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss.

Morle L., Bozon M., Alloisio N., Latour P., Vandenberghe A., Plauchu H., Collet L., Edery P., Godet J., Lina-Granade G.

J. Med. Genet. 37:368-370(2000) · UniProtKB (1)

Mutation in the zonadhesin-like domain of alpha-tectorin associated with autosomal dominant non-syndromic hearing loss.

Alloisio N., Morle L., Bozon M., Godet J., Verhoeven K., Van Camp G., Plauchu H., Muller P., Collet L., Lina-Granade G.

Eur. J. Hum. Genet. 7:255-258(1999) · UniProtKB (1)

Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis.

Alloisio N., Texier P., Vallier A., Ribeiro M.L., Morle L., Bozon M., Bursaux E., Maillet P., Goncalves P., Tanner M.J. et al.

Blood 90:414-420(1997) · UniProtKB (1)

Ankyrin Bugey: a de novo deletional frameshift variant in exon 6 of the ankyrin gene associated with spherocytosis.

Morle L., Bozon M., Alloisio N., Vallier A., Hayette S., Pascal O., Monier D., Philippe N., Forget B.G., Delaunay J.

Am. J. Hematol. 54:242-248(1997) · Mapped (6)

Novel band 3 variants (bands 3 Foggia, Napoli I and Napoli II) associated with hereditary spherocytosis and band 3 deficiency: status of the D38A polymorphism within the EPB3 locus.

Miraglia del Giudice E., Vallier A., Maillet P., Perrotta S., Cutillo S., Iolascon A., Tanner M.J., Delaunay J., Alloisio N.

Br. J. Haematol. 96:70-76(1997) · UniProtKB (1)

Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis.

Maillet P., Alloisio N., Morle L., Delaunay J.

Hum. Mutat. 8:97-107(1996) · UniProtKB (2)

Hereditary spherocytosis with band 3 deficiency. Association with a nonsense mutation of the band 3 gene (allele Lyon), and aggravation by a low-expression allele occurring in trans (allele Genas).

Alloisio N., Maillet P., Carre G., Texier P., Vallier A., Baklouti F., Philippe N., Delaunay J.

Blood 88:1062-1069(1996) · Mapped (11)

Ankyrin Napoli: a de novo deletional frameshift mutation in exon 16 of ankyrin gene (ANK1) associated with spherocytosis.

del Giudice E.M., Hayette S., Bozon M., Perrotta S., Alloisio N., Vallier A., Iolascon A., Delaunay J., Morle L.

Br. J. Haematol. 93:828-834(1996) · Mapped (6)

Band 3 Chur: a variant associated with band 3-deficient hereditary spherocytosis and substitution in a highly conserved position of transmembrane segment 11.

Maillet P., Vallier A., Reinhart W.H., Wyss E.J., Ott P., Texier P., Baklouti F., Tanner M.J.A., Delaunay J., Alloisio N.

Br. J. Haematol. 91:804-810(1995) · UniProtKB (1)

Low expression allele alpha LELY of red cell spectrin is associated with mutations in exon 40 (alpha V/41 polymorphism) and intron 45 and with partial skipping of exon 46.

Wilmotte R., Marechal J., Morle L., Baklouti F., Philippe N., Kastally R., Kotula L., Delaunay J., Alloisio N.

J. Clin. Invest. 91:2091-2096(1993) · UniProtKB (1)

Elliptopoikilocytosis associated with the alpha 469 His-->Pro mutation in spectrin Barcelona (alpha I/50-46b).

dalla Venezia N., Alloisio N., Forissier A., Denoroy L., Aymerich M., Vives-Corrons J.L., Besalduch J., Besson I., Delaunay J.

Blood 82:1661-1665(1993) · UniProtKB (1)

Mild elliptocytosis associated with the alpha 34 Arg-->Trp mutation in spectrin Genova (alpha I/74).

Perrotta S., del Giudice E.M., Alloisio N., Sciarratta G., Pinto L., Delaunay J., Cutillo S., Lolascon A.

Blood 83:3346-3349(1994) · UniProtKB (1)

A deletional frameshift mutation in protein 4.2 gene (allele 4.2 Lisboa) associated with hereditary hemolytic anemia.

Hayette S., Dhermy D., dos Santos M.E., Bozon M., Drenckhahn D., Alloisio N., Texier P., Delaunay J., Morle L.

Blood 85:250-256(1995) · Mapped (6)

Two elliptocytogenic alpha I/74 variants of the spectrin alpha I domain. Spectrin Culoz (GGT-->GTT; alpha I 40 Gly-->Val) and spectrin Lyon (CTT-->TTT; alpha I 43 Leu-->Phe).

Morle L., Roux A.-F., Alloisio N., Pothier B., Starck J., Denoroy J., Morle F., Rudigoz R.-C., Forget B.G., Delaunay J. et al.

J. Clin. Invest. 86:548-554(1990) · UniProtKB (1)

Spectrin Jendouba: an alpha II/31 spectrin variant that is associated with elliptocytosis and carries a mutation distant from the dimer self-association site.

Alloisio N., Wilmotte R., Morle L., Baklouti F., Marechal J., Ducluzeau M.-T., Denoroy L., Feo C., Forget B.G., Kastally R. et al.

Blood 80:809-815(1992) · UniProtKB (1)

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