Zobrazeno 1 - 10
of 149
pro vyhledávání: '"L, Morle"'
Autor:
Jean Delaunay, Jacqueline Godet, François Morlé, Evelyne Dorléac, Claire Baudonnet, L Morle, Faouzi Baklouti
Publikováno v:
Scandinavian Journal of Haematology. 33:281-287
We report on a Moroccan family in which the proposita displays a picture of beta-thalassaemia intermedia, associated with heterozygous Hb O-Arab (beta 121 Glu----Lys) and a beta zero-thalassaemia trait. Hb O-Arab was ascertained by the disappearance
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fcdee7d03175b89875d2dde2263ae21
https://doi.org/10.1111/j.1600-0609.1984.tb02229.x
https://doi.org/10.1111/j.1600-0609.1984.tb02229.x
Autor:
Sandra Marques, C Feo, MT Ducluzeau, Isabelle Chaveroche, L Morle, Nicole Alloisio, M. Garbarz, Jean Delaunay, Gabriel Olim, B. Pothier, Pierre Boivin, João Martins e Silva
Publikováno v:
European Journal of Haematology. 38:447-455
We present 2 siblings with a severe congenital haemolytic anaemia. Red cells displayed a variety of abnormal shapes, including leptocytes, schizocytes and elliptocytes. Repeatedly, skeletal protein 4.1 appeared reduced by 30%. The 4.1a/4.1b ratio was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51920b4f9e2c180912bf05cdd053c598
https://doi.org/10.1111/j.1600-0609.1987.tb01443.x
https://doi.org/10.1111/j.1600-0609.1987.tb01443.x
Autor:
M. Bozon, Michael J. A. Tanner, C. Korsgren, J. Delaunay, S. Fattoum, L Morle, Mary Risinger, S. Hayette, Carl M. Cohen, A. Ghanem
Publikováno v:
British Journal of Haematology. 89:762-770
A recessively transmitted haemolytic anaemia associated with the lack of protein 4.2 was found in a Tunisian kindred. Trace amounts of this protein (72 kD component) became visible using high-sensitivity Western blots. Band 3 and ankyrin genes were e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7edecce06ffe1326d62565c4b80048c2
https://doi.org/10.1111/j.1365-2141.1995.tb08413.x
https://doi.org/10.1111/j.1365-2141.1995.tb08413.x
Autor:
Renaud Touraine, Lucie Verot, Henri Plauchu, L Morle, Muriel Bozon, Patrick Edery, Nicole Alloisio
Publikováno v:
American Journal of Medical Genetics Part A. :37-41
Isolated mental retardation is clinically and genetically heterogenous and may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. We report here a linkage analysis in a large family including 15 members, 6 of whom present
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::62f73507b9ad0b3dd73e044e9e19ac4a
https://doi.org/10.1002/ajmg.a.20221
https://doi.org/10.1002/ajmg.a.20221
Autor:
J.-L. Stéphan, S. Hayette, O. Pascal, M. Bozon, Nicole Alloisio, J. Reynaud, J. Delaunay, Oumedaly Reman, R. Wilmotte, P. Maillet, L Morle, Geneviève Carré
Publikováno v:
American Journal of Hematology. 58:36-41
We present two distinct truncated variants of ankyrin associated with mild to moderate hereditary spherocytosis. Ankyrin Saint-Etienne 1 was manifested by an additional band located between bands 2.1 and 2.2. It was associated with a nonsense mutatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f6bcc55832264e610abfe0f4b614b13d
https://doi.org/10.1002/(sici)1096-8652(199805)58:1<36::aid-ajh7>3.0.co
https://doi.org/10.1002/(sici)1096-8652(199805)58:1<36::aid-ajh7>3.0.co
Autor:
Hideho Wada, Takafumi Inoue, Sandrine Hayette, L Morle, A. Vallier, Fumihide Inoue, J. Delaunay, Nicole Alloisio, Yoshihito Yawata, Ayumi Yawata, Akio Kanzaki, Reiko Matsuyama
Publikováno v:
British Journal of Haematology. 99:522-530
Unlike previously reported cases with total protein 4.2 deficiency due to mutations in the EPB42 gene, we describe a total deficiency in protein 4.2 with normal EPB42 alleles. Hereditary spherocytosis (HS) was observed in a Japanese woman (unsplenect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b38658f3693d3acbd2f2f250f44081d1
https://doi.org/10.1046/j.1365-2141.1997.4263231.x
https://doi.org/10.1046/j.1365-2141.1997.4263231.x
Autor:
Paula Gonçalves, A. Vallier, Michael J. A. Tanner, P. Maillet, M. Bozon, Maria Leticia Ribeiro, E. Bursaux, Jean Delaunay, P Texier, Gabriel Tamagnini, L Morle, Nicole Alloisio
Publikováno v:
CIÊNCIAVITAE
Scopus-Elsevier
Europe PubMed Central
Scopus-Elsevier
Europe PubMed Central
We present two novel alleles of the anion-exchanger 1 (AE1) gene, allele Coimbra and allele Mondego. Allele Coimbra (V488M, GTG → ATG) affects a conserved position in the putative second ectoplasmic loop of erythrocyte band 3. In 15 simple heterozy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::503dea7a594ad4d8a65ea699d598a1a5
https://doi.org/10.1182/blood.v90.1.414.414_414_420
https://doi.org/10.1182/blood.v90.1.414.414_414_420
Autor:
Nicole Alloisio, J. Delaunay, S. Hayette, A. Vallier, N. Philippe, O. Pascal, L Morle, Bernard G. Forget, D. Monier, M. Bozon
Publikováno v:
American Journal of Hematology. 54:242-248
We describe a case of spherocytosis in a French child splenectomized at age 10 years. The parents were devoid of any clinical, hematological, or biochemical abnormalities. Following splenectomy, the proposita exhibited a reduction of red cell membran
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cc2bd39864176bf6ae37542b94087cec
https://doi.org/10.1002/(sici)1096-8652(199703)54:3<242::aid-ajh11>3.0.co
https://doi.org/10.1002/(sici)1096-8652(199703)54:3<242::aid-ajh11>3.0.co
Autor:
Silverio Perrotta, Nicole Alloisio, Achille Iolascon, M. Bozon, E. Miraglia del Giudice, S. Hayette, A. Vallier, J. Delaunay, L Morle
Publikováno v:
British Journal of Haematology. 93:828-834
We report a case of apparently recessive hereditary spherocytosis in an Italian child. The proband exhibited a reduction of overall ankyrin in the red cell membrane. The parents were free of any haematological manifestations. The VNDR associated with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::091e8da9353795aca4446d9ada97ac6f
https://doi.org/10.1046/j.1365-2141.1996.d01-1746.x
https://doi.org/10.1046/j.1365-2141.1996.d01-1746.x
Publikováno v:
Human Mutation. 8:97-107
Hereditary elliptocytosis (HE), its aggravated form hereditary pyropoikilocytosis (HPP), and hereditary spherocytosis (HS) designate a set of congenital hemolytic syndromes. The responsible mutations lie in several genes encoding proteins of the red
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::974d7a712b80def4b6992257c388dafe
https://doi.org/10.1002/(sici)1098-1004(1996)8:2<97::aid-humu1>3.0.co
https://doi.org/10.1002/(sici)1098-1004(1996)8:2<97::aid-humu1>3.0.co