Bozon M - Search Results

1

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

Alloisio N, Texier P, Vallier A, Ribeiro ML, Morlé L, Bozon M, Bursaux E, Maillet P, Gonçalves P, Tanner MJ, Tamagnini G, Delaunay J. Alloisio N, et al. Among authors: bozon m. Blood. 1997 Jul 1;90(1):414-20. Blood. 1997. PMID: 9207478 Free article.

2

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

Hayette S, Dhermy D, dos Santos ME, Bozon M, Drenckhahn D, Alloisio N, Texier P, Delaunay J, Morlé L. Hayette S, et al. Among authors: bozon m. Blood. 1995 Jan 1;85(1):250-6. Blood. 1995. PMID: 7803799 Free article.

3

Two distinct truncated variants of ankyrin associated with hereditary spherocytosis.

Hayette S, Carré G, Bozon M, Alloisio N, Maillet P, Wilmotte R, Pascal O, Reynaud J, Reman O, Stéphan JL, Morlé L, Delaunay J. Hayette S, et al. Among authors: bozon m. Am J Hematol. 1998 May;58(1):36-41. doi: 10.1002/(sici)1096-8652(199805)58:1<36::aid-ajh7>3.0.co;2-1. Am J Hematol. 1998. PMID: 9590147 Free article.

4

A point mutation in the protein 4.2 gene (allele 4.2 Tozeur) associated with hereditary haemolytic anaemia.

Hayette S, Morle L, Bozon M, Ghanem A, Risinger M, Korsgren C, Tanner MJ, Fattoum S, Cohen CM, Delaunay J. Hayette S, et al. Among authors: bozon m. Br J Haematol. 1995 Apr;89(4):762-70. doi: 10.1111/j.1365-2141.1995.tb08413.x. Br J Haematol. 1995. PMID: 7772513

5

Frequent de novo mutations of the ANK1 gene mimic a recessive mode of transmission in hereditary spherocytosis: three new ANK1 variants: ankyrins Bari, Napoli II and Anzio.

Randon J, Miraglia del Giudice E, Bozon M, Perrotta S, De Vivo M, Iolascon A, Delaunay J, Morle L. Randon J, et al. Among authors: bozon m. Br J Haematol. 1997 Mar;96(3):500-6. doi: 10.1046/j.1365-2141.1997.d01-2074.x. Br J Haematol. 1997. PMID: 9054656 Free article.

6

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: bozon m. 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.

7

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

del Giudice EM, Hayette S, Bozon M, Perrotta S, Alloisio N, Vallier A, Iolascon A, Delaunay J, Morlé L. del Giudice EM, et al. Among authors: bozon m. Br J Haematol. 1996 Jun;93(4):828-34. doi: 10.1046/j.1365-2141.1996.d01-1746.x. Br J Haematol. 1996. PMID: 8703812

8

A Dde I RFLP in exon 21 of human EL1 gene, encoding protein 4.1, detectable by SSCP.

Maillet P, Dalla Venezia N, Bozon M, Vallier A, Delaunay J, Baklouti F. Maillet P, et al. Among authors: bozon m. Hum Mutat. 1998;11(4):342-3. Hum Mutat. 1998. PMID: 9554757

9

A premature termination codon within an alternative exon affecting only the metabolism of transcripts that retain this exon.

Maillet P, Dalla Venezia N, Lorenzo F, Morinière M, Bozon M, Noël B, Delaunay J, Baklouti F. Maillet P, et al. Among authors: bozon m. Hum Mutat. 1999;14(2):145-55. doi: 10.1002/(SICI)1098-1004(1999)14:2<145::AID-HUMU6>3.0.CO;2-L. Hum Mutat. 1999. PMID: 10425037

10

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

Morlé L, Bozon M, Alloisio N, Latour P, Vandenberghe A, Plauchu H, Collet L, Edery P, Godet J, Lina-Granade G. Morlé L, et al. Among authors: bozon m. J Med Genet. 2000 May;37(5):368-70. doi: 10.1136/jmg.37.5.368. J Med Genet. 2000. PMID: 10807696 Free PMC article.

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