4 - Bibliothèques de l'Université de Lorraine

4 - Bibliothèques de l'Université de Lorraine 4 - Bibliothèques de l'Université de Lorraine

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103. Lux S.E. ; Tse W.T. ; Menninger J.C. ; John K.M. ; Harri P. ; Shalev O. ; Chi Icotte R.R. ; Marchesi S.L. ; Watkins P.L. ; Bennet V. ; Mc Intosch S. ; Collins F.S. ; Franck V. ; Ward D.C. ; Forget B.G. Heredytary spherocytosis associated with deletion of human erythrocyte ankyrin gene on chromosom 8 Nature 1990,345,736-739 104. Pekrun A. ; Eber S.W. ; Kuhlmey A. ; Schrotter W. Combined ankyrin and spectrin deficiency in hereditary spherocytosis Ann Haematol1993, 67, 89-93 105. Savvides P. ; Shalev O. ; John K.M. ; Lux S.E. Combined spectrin and ankyrin deficiency is common in autosomal dominant hereditary spherocytosis Blood 1993,82,2953-2960 106. Miraglia Del Giudice E. ; Francese M. ; Polito R. ; Nobili B. ; Iolascon A. ; Perotta S. Apparently normal ankyrin content in unsplenectomized hereditary spherocytosis patient with the inactivation of one ankyrin (ANK1) allele Haematology 1997, 82, 332-333 107. Inoue T. ; Kanzaki A. ; Yawata A. ; Wada H. ; Okamoto N. ; Takahaschi M. ; Sugihara T. ; Yamada O. ; Yawata Y. Uniquely higher incidence of isolated or combined deficiency of band 3 and/or ban 4.2 as pathogenesis of autosomal dominant inherited hereditary spherocytosis in the japanese population Int J Hematol1994, 60,227-238

108. Agre P. ; Asimos A. ; Castella J.F. ; Mc Millan C. Inheritance pattern and c1inical response to splenectomy as the reflection of erythroid spectrin deficiency in hereditary spherocytosis N Engl J Med 1986,315,1579-1583 109. Eber S.W. ; Armbrust R. ; Schroetter W. Variable c1inical severity of hereditary spherocytosis : relation to erythrocytic spectrin concentration, osmotic fragility, and autohemolysis J Pediatr 1990, 117,409-416 110. Miraglia Del Giudice E. ; Francese M. ; Nobili B. ; Morle C. ; Cutillo S. ; Delaunay J. ; Perotta S. High frequency of novo mutation in ankyrin gene 1 (ANK1) in children with hereditary spherocytosis J Pediatr 1998, 132, 117-120 111. Miraglia Del Giudice E. ; Lombardi C. ; Francese M. ; Nobili B. ; Conte M.L. ; Amendola G. ; Cutillo S. ; Iolascon A. ; Perotta S. Frequent de nova monoallelic expression of beta spectrin gene (SPTB) in children with hereditary spherocytosis and isolated spectrin deficiency Br J Haematol1998, lOI, 251-254 112. Tse W.T. ; Lux S.E. Red blood cel! membrane disorder in review Br J Haematol1999, 104, 2-13 113. Cohen H. ; Delhanty W.J.D.A. ; Lucas J.B. ; Huehns E.R. Congenital spherocytosis, B19 parvovirus infection and inherited interstitial deletion for the short arm of the chromosom 8 Br J Haematol1991, 78,254-257

108. Agre P. ; Asimos A. ; Castella J.F. ; Mc Millan C.<br />

Inheritance pattern and c1inical response to splenectomy as<br />

the reflection of erythroid spectrin <strong>de</strong>ficiency in hereditary<br />

spherocytosis<br />

N Engl J Med 1986,315,1579-1583<br />

109. Eber S.W. ; Armbrust R. ; Schroetter W.<br />

Variable c1inical severity of hereditary spherocytosis : relation<br />

to erythrocytic spectrin concentration, osmotic fragility, and<br />

autohemolysis<br />

J Pediatr 1990, 117,409-416<br />

110. Miraglia Del Giudice E. ; Francese M. ; Nobili B. ; Morle C. ;<br />

Cutillo S. ; Delaunay J. ; Perotta S.<br />

High frequency of novo mutation in ankyrin gene 1 (ANK1) in<br />

children with hereditary spherocytosis<br />

J Pediatr 1998, 132, 117-120<br />

111. Miraglia Del Giudice E. ; Lombardi C. ; Francese M. ; Nobili B. ;<br />

Conte M.L. ; Amendola G. ; Cutillo S. ; Iolascon A. ; Perotta S.<br />

Frequent <strong>de</strong> nova monoallelic expression of beta spectrin gene<br />

(SPTB) in children with hereditary spherocytosis and isolated<br />

spectrin <strong>de</strong>ficiency<br />

Br J Haematol1998, lOI, 251-254<br />

112. Tse W.T. ; Lux S.E.<br />

Red blood cel! membrane disor<strong>de</strong>r in review<br />

Br J Haematol1999, 104, 2-13<br />

113. Cohen H. ; Delhanty W.J.D.A. ; Lucas J.B. ; Huehns E.R.<br />

Congenital spherocytosis, B19 parvovirus infection and<br />

inherited interstitial <strong>de</strong>letion for the short arm of the<br />

chromosom 8<br />

Br J Haematol1991, 78,254-257

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