Philippe N - Search Results

1

Assignment of Sp alpha I/74 hereditary elliptocytosis to the alpha- or beta-chain of spectrin through in vitro dimer reconstitution.

Pothier B, Alloisio N, Maréchal J, Morlé L, Ducluzeau MT, Caldani C, Philippe N, Delaunay J. Pothier B, et al. Among authors: philippe n. Blood. 1990 May 15;75(10):2061-9. Blood. 1990. PMID: 2337674 Free article.

2

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, Maréchal J, Morlé L, Baklouti F, Philippe N, Kastally R, Kotula L, Delaunay J, Alloisio N. Wilmotte R, et al. Among authors: philippe n. J Clin Invest. 1993 May;91(5):2091-6. doi: 10.1172/JCI116432. J Clin Invest. 1993. PMID: 8486776 Free PMC article.

3

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, Carré G, Texier P, Vallier A, Baklouti F, Philippe N, Delaunay J. Alloisio N, et al. Among authors: philippe n. Blood. 1996 Aug 1;88(3):1062-9. Blood. 1996. PMID: 8704215 Free article.

4

Sp alpha I/65 hereditary elliptocytosis in North Africa.

Alloisio N, Guetarni D, Morlé L, Pothier B, Ducluzeau MT, Soun A, Colonna P, Clerc M, Philippe N, Delaunay J. Alloisio N, et al. Among authors: philippe n. Am J Hematol. 1986 Oct;23(2):113-22. doi: 10.1002/ajh.2830230205. Am J Hematol. 1986. PMID: 3752066

5

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

Morlé L, Bozon M, Alloisio N, Vallier A, Hayette S, Pascal O, Monier D, Philippe N, Forget BG, Delaunay J. Morlé L, et al. Among authors: philippe n. Am J Hematol. 1997 Mar;54(3):242-8. doi: 10.1002/(sici)1096-8652(199703)54:3<242::aid-ajh11>3.0.co;2-f. Am J Hematol. 1997. PMID: 9067504 Free article.

6

Alterations of globin chain synthesis and of red cell membrane proteins in congenital dyserythropoietic anemia I and II.

Alloisio N, Jaccoud P, Dorleac E, Morle L, Philippe N, Margueritte G, Bryon PA, Delaunay J. Alloisio N, et al. Among authors: philippe n. Pediatr Res. 1982 Dec;16(12):1016-21. doi: 10.1203/00006450-198212000-00010. Pediatr Res. 1982. PMID: 6185913

7

beta+ -Thalassemia intermedia. Genetic and biochemical study of a family including 3 cases.

Philip T, Souillet G, Philippe N, Freycon F, Bektas S, Morlé L, Trabuchet G, Godet J. Philip T, et al. Among authors: philippe n. Hum Hered. 1980;30(5):324-30. doi: 10.1159/000153151. Hum Hered. 1980. PMID: 6156119

8

Increased thrombin generation in a child with a combined factor IX and protein C deficiency.

Negrier C, Berruyer M, Durin A, Philippe N, Dechavanne M. Negrier C, et al. Among authors: philippe n. Blood. 1993 Feb 1;81(3):690-5. Blood. 1993. PMID: 8427961 Free article.

9

p16 gene homozygous deletions in acute lymphoblastic leukemia.

Quesnel B, Preudhomme C, Philippe N, Vanrumbeke M, Dervite I, Lai JL, Bauters F, Wattel E, Fenaux P. Quesnel B, et al. Among authors: philippe n. Blood. 1995 Feb 1;85(3):657-63. Blood. 1995. PMID: 7833469 Free article.

10

A family showing recessively inherited multisystem pathology with aberrant splicing of the erythrocyte Band 7.2b ('stomatin') gene.

Argent AC, Chetty MC, Fricke B, Bertrand Y, Philippe N, Khogali S, von Düring M, Delaunay J, Stewart GW. Argent AC, et al. Among authors: philippe n. J Inherit Metab Dis. 2004;27(1):29-46. doi: 10.1023/B:BOLI.0000016624.21475.de. J Inherit Metab Dis. 2004. PMID: 14970744

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