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Jean Delaunay

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Immacolata Andolfo; Carla Auriemma; Carlo Brugnara; Maria D'Armiento; Luigia De Falco; Lucia De Franceschi; Jean Delaunay; Maria Rosaria Esposito; Bertil E Glader; Ivan Limongelli; Donatella Montanaro; Rupa Narayan; Roberta Russo; Stanley L Schrier; Boris E Shmukler; Gordon W Stewart; Fara Vallefuoco; David H Vandorpe; Annalisa Vetro; Orsetta Zuffardi; Seth L Alper; Achille Iolascon
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.
Faouzi Baklouti; Yohann Couté; Madeleine Fénéant-Thibault; Henri Gruffat; Corinne Guitton; Amel Haj-Khélil; Madeleine Morinière; Alain Ninot; Jean Delaunay
Homozygous deletion of EPB41 genuine AUG-containing exons results in mRNA splicing defects, NMD activation and protein 4.1R complete deficiency in hereditary elliptocytosis.
Roberta Russo; Maria Luisa Serra; Hannah Tamary; Annaelena Troiano; Mario Capasso; Ilaria De Maggio; Jean Delaunay; Maria Rosaria Esposito; Antonella Gambale; Lucio Luzzatto; Achille Iolascon
Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population.

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All Publications

2013: Immacolata Andolfo; Carla Auriemma; Carlo Brugnara; Maria D'Armiento; Luigia De Falco; Lucia De Franceschi; Jean Delaunay; Maria Rosaria Esposito; Bertil E Glader; Ivan Limongelli; Donatella Montanaro; Rupa Narayan; Roberta Russo; Stanley L Schrier; Boris E Shmukler; Gordon W Stewart; Fara Vallefuoco; David H Vandorpe; Annalisa Vetro; Orsetta Zuffardi; Seth L Alper; Achille Iolascon
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.
Blood 2013;121(19):3925-35.
2011: Faouzi Baklouti; Yohann Couté; Madeleine Fénéant-Thibault; Henri Gruffat; Corinne Guitton; Amel Haj-Khélil; Madeleine Morinière; Alain Ninot; Jean Delaunay
Homozygous deletion of EPB41 genuine AUG-containing exons results in mRNA splicing defects, NMD activation and protein 4.1R complete deficiency in hereditary elliptocytosis.
Blood cells, molecules & diseases 2011;47(3):158-65.
2011: Roberta Russo; Maria Luisa Serra; Hannah Tamary; Annaelena Troiano; Mario Capasso; Ilaria De Maggio; Jean Delaunay; Maria Rosaria Esposito; Antonella Gambale; Lucio Luzzatto; Achille Iolascon
Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population.
American journal of hematology 2011;86(9):727-32.
2010: Madeleine Morinière; François Delhommeau; Alain Calender; Leticia Ribeiro; Jean Delaunay; Faouzi Baklouti
Nonsense-mediated mRNA decay (NMD) blockage promotes nonsense mRNA stabilization in protein 4.1R deficient cells carrying the 4.1R Coimbra variant of hereditary elliptocytosis.
Blood cells, molecules & diseases 2010;45(4):284-8.
2010: Aurore Crétien; Alexis Proust; Jean Delaunay; Patricia Rincé; Thierry Leblanc; Rolande Ducrocq; Maud Simansour; Isabelle Marie; Hannah Tamary; Joerg Meerpohl; Charlotte Niemeyer; Hanna Gazda; Colin Sieff; Sarah Ball; Gil Tchernia; Narla Mohandas; Lydie Da Costa
Genetic variants in the noncoding region of RPS19 gene in Diamond-Blackfan anemia: potential implications for phenotypic heterogeneity.
American journal of hematology 2010;85(2):111-6.
2008: Aurore Crétien; corinne hurtaud; Hélène Moniz; Alexis Proust; Isabelle Marie; Orianne Wagner-Ballon; Valérie Choesmel; Pierre-Emmanuel Gleizes; Thierry Leblanc; Jean Delaunay; Gil Tchernia; Narla Mohandas; Lydie Da Costa
Study of the effects of proteasome inhibitors on ribosomal protein S19 (RPS19) mutants, identified in patients with Diamond-Blackfan anemia.
Haematologica 2008;93(11):1627-34.
2008: Cécile Alanio-Bréchot; Pierre-Olivier Schischmanoff; Madeleine Fénéant-Thibault; Thérèse Cynober; Gil Tchernia; Jean Delaunay; Loïc Garçon
Association between myeloid malignancies and acquired deficit in protein 4.1R: a retrospective analysis of six patients.
American journal of hematology 2008;83(4):275-8.
2008: Hannah Tamary; H Offret; Orly Dgany; B Foliguet; Sunitha N Wickramasinghe; Tatyana Krasnov; F Rumilly; C Goujard; M Fénéant-Thibault; Thérèse Cynober; Jean Delaunay
Congenital dyserythropoietic anaemia, type I, in a Caucasian patient with retinal angioid streaks (homozygous Arg1042Trp mutation in codanin-1).
European journal of haematology 2008;80(3):271-4.
2007: Alexis Proust; Benoît Guillet; Capucine Picard; Geneviève de Saint Basile; Corinne Pondarré; Hannah Tamary; Marie Dreyfus; Gil Tchernia; Alain Fischer; Jean Delaunay
Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR.
Blood cells, molecules & diseases 2007;39(1):102-6.
2007: Geneviève Beaurain; Flavie MATHIEU; Sabine Grootenboer; Béatrice Fiquet; Thérèse Cynober; Gil Tchernia; Jean Delaunay; Xavier Jeunemaitre
Dehydrated hereditary stomatocytosis mimicking familial hyperkalaemic hypertension: clinical and genetic investigation.
European journal of haematology 2007;78(3):253-9.
2006: Véronique SAADA; Thérèse Cynober; Yves Brossard; Pierre-Olivier Schischmanoff; Alfred Sender; Henri Cohen; Jean Delaunay; Gil Tchernia
Incidence of hereditary spherocytosis in a population of jaundiced neonates.
Pediatric hematology and oncology 2006;23(5):387-97.
2005: Hannah Tamary; Orly Dgany; Alexis Proust; Tatyana Krasnov; Nili Avidan; Tal Eidelitz-Markus; Gil Tchernia; David Geneviève; Valérie Cormier-Daire; Brigitte Bader-Meunier; Corinne Ferrero-Vacher; Martine Munzer; Ralph A Gruppo; Eitan Fibach; Osnat Konen; Isaac Yaniv; Jean Delaunay
Clinical and molecular variability in congenital dyserythropoietic anaemia type I.
British journal of haematology 2005;130(4):628-34.
2005: Brigitte Bader-Meunier; Guy Leverger; Gil Tchernia; Olivier Schischmanoff; Thérèse Cynober; Françoise Bernaudin; Thierry Leblanc; Martine Munzer; Laurent Roda; Christine Soler; Isabelle Thuret; Jean Delaunay
Clinical and laboratory manifestations of congenital dyserythropoietic anemia type I in a cohort of French children.
Journal of pediatric hematology/oncology 2005;27(8):416-9.
2005: Alexis Proust; Benoît Guillet; Isabelle Pellier; Petronela Rachieru; Cyrille Hoarau; Ségolène Claeyssens; Claude Léonard; Sabine Charrier; William Vainchenker; Gil Tchernia; Jean Delaunay
Recurrent V75M mutation within the Wiskott-Aldrich syndrome protein: description of a homozygous female patient.
European journal of haematology 2005;75(1):54-9.
2005: François Delhommeau; Nicole Dalla Venezia; Madeleine Morinière; Huguette Collin; Philippe Maillet; Ibtissem Guerfali; Philippe Leclerc; Michel Fardeau; Jean Delaunay; Faouzi Baklouti
Protein 4.1R expression in normal and dystrophic skeletal muscle.
Comptes rendus biologies 2005;328(1):43-56.
2004: Jean Delaunay; V Nouyrigat; Alexis Proust; Pierre-Olivier Schischmanoff; Thérèse Cynober; Jeannine Yvart; C Gaillard; O Danos; Gil Tchernia
Different impacts of alleles alphaLEPRA and alphaLELY as assessed versus a novel, virtually null allele of the SPTA1 gene in trans.
British journal of haematology 2004;127(1):118-22.
2004: Jean Delaunay
The hereditary stomatocytoses: genetic disorders of the red cell membrane permeability to monovalent cations.
Seminars in hematology 2004;41(2):165-72.
2004: Gil Tchernia; Brigitte Bader-Meunier; Anne Beauchamp-Nicoud; Thérèse Cynober; Madeleine Fénéant-Thibault; Jean Delaunay
Congenital dyserythropoietic anemias.
The hematology journal : the official journal of the European Haematology Association / EHA 2004;5 Suppl 3():S191-4.
2003: Debabrata Mandal; Véronique Baudin-Creuza; Asima Bhattacharyya; Shresh Pathak; Jean Delaunay; Manikuntala Kundu; Joyoti Basu
Caspase 3-mediated proteolysis of the N-terminal cytoplasmic domain of the human erythroid anion exchanger 1 (band 3).
The Journal of biological chemistry 2003;278(52):52551-8.
2003: Ewa Zdebska; Brigitte Bader-Meunier; Pierre-Olivier Schischmanoff; Thierry Dupré; Nathalie Seta; Gil Tchernia; Jerzy Kościelak; Jean Delaunay
Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig.
Pediatric research 2003;54(2):224-9.
2003: Nili Avidan; Hannah Tamary; Orly Dgany; Daniel Cattan; Alexandre Pariente; Michel Thulliez; Nicolas Borot; Lucien Moati; Alain Barthelme; Lea Shalmon; Tatyana Krasnov; Edna Ben-Asher; Tsviya Olender; Miriam Khen; Isaac Yaniv; Rina Zaizov; Hanna Shalev; Jean Delaunay; Marc Fellous; Doron Lancet; Jacques Beckmann
CATSPER2, a human autosomal nonsyndromic male infertility gene.
European journal of human genetics : EJHG 2003;11(7):497-502.
2003: Sabine Grootenboer-Mignot; Aurore Crétien; Ingrid Laurendeau; Marie-Hélène Poissonnier; Valérie Doireau; Yves Brossard; Gil Tchernia; Thérèse Cynober; Jean Delaunay
Sub-lethal hydrops as a manifestation of dehydrated hereditary stomatocytosis in two consecutive pregnancies.
Prenatal diagnosis 2003;23(5):380-4.
2003: Jean Delaunay
Red cell membrane and erythropoiesis genetic defects.
The hematology journal : the official journal of the European Haematology Association / EHA 2003;4(4):225-32.
2003: Alexis Proust; Lydie Da Costa; Patricia Rince; Anaely Landois; Hannah Tamary; Rina Zaizov; Gil Tchernia; Jean Delaunay
Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene.
The hematology journal : the official journal of the European Haematology Association / EHA 2003;4(2):132-6.
2003: Isabelle Mouro-Chanteloup; Jean Delaunay; Pierre Gane; Virginie Nicolas; Mette Johansen; Eric J Brown; Luanne L Peters; Caroline Le Van Kim; Jean-Pierre Cartron; Yves Colin
Evidence that the red cell skeleton protein 4.2 interacts with the Rh membrane complex member CD47.
Blood 2003;101(1):338-44.
2002: Orly Dgany; Nili Avidan; Jean Delaunay; Tatyana Krasnov; Lea Shalmon; Hanna Shalev; Tal Eidelitz-Markus; Joseph Kapelushnik; Daniel Cattan; Alexandre Pariente; Micheline Tulliez; Aurore Crétien; Pierre-Olivier Schischmanoff; Achille Iolascon; Eitan Fibach; Ariel Koren; Jochen Rössler; Martine Le Merrer; Isaac Yaniv; Rina Zaizov; Edna Ben-Asher; Tsviya Olender; Doron Lancet; Jacques Beckmann; Hannah Tamary
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.
American journal of human genetics 2002;71(6):1467-74.
2002: François Delhommeau; Corinne Vasseur-Godbillon; Philippe Leclerc; Pierre-Olivier Schischmanoff; Laure Croisille; Patricia Rince; Madeleine Morinière; Edward J Benz; Gil Tchernia; Gabriel Tamagnini; Leticia Ribeiro; Jean Delaunay; Faouzi Baklouti
A splicing alteration of 4.1R pre-mRNA generates 2 protein isoforms with distinct assembly to spindle poles in mitotic cells.
Blood 2002;100(7):2629-36.
2002: Laurent Roda; Jérôme Pasche; Alain Fournier; Vaea Terorotua; Sunitha N Wickramasinghe; Hannah Tamary; Pierre-Olivier Schischmanoff; Gil Tchernia; Jean Delaunay
Congenital dyserythropoietic anemia, type 1, in a polynesian patient: response to interferon alpha2b.
Journal of pediatric hematology/oncology 2002;24(6):503-6.
2002: Jean Delaunay
Molecular basis of red cell membrane disorders.
Acta haematologica 2002;108(4):210-8.
2001: Sabine Grootenboer; C Barro; Thérèse Cynober; P Olivier Schischmanoff; Jean-Marc Ayoubi; Gil Tchernia; Jean Delaunay; Jean-Claude Pons
Dehydrated hereditary stomatocytosis: a cause of prenatal ascites.
Prenatal diagnosis 2001;21(13):1114-8.
2000: Sabine Grootenboer; Pierre-Olivier Schischmanoff; Ingrid Laurendeau; Thérèse Cynober; Gil Tchernia; JP Dommergues; Didier Dhermy; M Bost; B Varet; M Snyder; S K Ballas; B Ducot; M C Babron; Gordon W Stewart; Paolo Gasparini; Achille Iolascon; Jean Delaunay
Pleiotropic syndrome of dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema maps to 16q23-q24.
Blood 2000;96(7):2599-605.
2000: Maria Letícia Ribeiro; Nicole Alloisio; H Almeida; C Gomes; P Texier; C Lemos; G Mimoso; Laurette Morlé; F Bey-Cabet; R C Rudigoz; Jean Delaunay; Gabriel Tamagnini
Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3.
Blood 2000;96(4):1602-4.
2000: N Parez; M Dommergues; V Zupan; H Chambost; J B Fieschi; Jean Delaunay; F Miélot; Elisabeth M Cramer; JP Dommergues; S N Wickramasinghe; Gil Tchernia
Severe congenital dyserythropoietic anaemia type I: prenatal management, transfusion support and alpha-interferon therapy.
British journal of haematology 2000;110(2):420-3.
2000: Achille Iolascon; Veronica Servedio; R Carbone; Angela Totaro; Massimo Carella; Silverio Perrotta; S N Wickramasinghe; Jean Delaunay; H Heimpel; Paolo Gasparini
Geographic distribution of CDA-II: did a founder effect operate in Southern Italy?
Haematologica 2000;85(5):470-4.
2000: Madeleine Morinière; L Ribeiro; Nicole Dalla Venezia; Mireille Deguillien; Philippe Maillet; Thérèse Cynober; François Delhommeau; H Almeida; Gabriel Tamagnini; Jean Delaunay; Faouzi Baklouti
Elliptocytosis in patients with C-terminal domain mutations of protein 4.1 correlates with encoded messenger RNA levels rather than with alterations in primary protein structure.
Blood 2000;95(5):1834-41.
2000: François Delhommeau; Thérèse Cynober; Pierre-Olivier Schischmanoff; P Rohrlich; Jean Delaunay; Narla Mohandas; Gil Tchernia
Natural history of hereditary spherocytosis during the first year of life.
Blood 2000;95(2):393-7.
2000: Gil Tchernia; François Delhommeau; Silverio Perrotta; Thérèse Cynober; Brigitte Bader-Meunier; Bruno Nobili; P Rohrlich; J L Salomon; S Sagot-Bevenot; Emanuele Miraglia del Giudice; Jean Delaunay; D DeMattia; Pierre-Olivier Schischmanoff; Narla Mohandas; Achille Iolascon
Recombinant erythropoietin therapy as an alternative to blood transfusions in infants with hereditary spherocytosis.
The hematology journal : the official journal of the European Haematology Association / EHA 2000;1(3):146-52.
2000: Anne Beauchamp-Nicoud; L Morle; H U Lutz; P Stammler; O Agulles; R Petermann-Khder; Achille Iolascon; Silverio Perrotta; Thérèse Cynober; Gil Tchernia; Jean Delaunay; Véronique Baudin-Creuza
Heavy transfusions and presence of an anti-protein 4.2 antibody in 4. 2(-) hereditary spherocytosis (949delG).
Haematologica 2000;85(1):19-24.
1999: Anne Beauchamp-Nicoud; Pierre-Olivier Schischmanoff; Nicole Alloisio; P Boivin; S F Parsons; F Mielot; Gil Tchernia; A Legrand; Emanuele Miraglia del Giudice; Paolo Gasparini; Achille Iolascon; Sunitha N Wickramasinghe; Jean Delaunay
Suppression of CDA II expression in a homozygote.
British journal of haematology 1999;106(4):948-53.
1999: Massimo Carella; Gordon W Stewart; JF Ajetunmobi; F Schettini; Jean Delaunay; Achille Iolascon
Genetic heterogeneity of hereditary stomatocytosis syndromes showing pseudohyperkalemia.
Haematologica 1999;84(9):862-3.
1999: Achille Iolascon; Gordon W Stewart; JF Ajetunmobi; Silverio Perrotta; Jean Delaunay; Massimo Carella; Leopoldo Zelante; Paolo Gasparini
Familial pseudohyperkalemia maps to the same locus as dehydrated hereditary stomatocytosis (hereditary xerocytosis).
Blood 1999;93(9):3120-3.
1999: R Wilmotte; J Marechal; Jean Delaunay
Mutation at position -12 of intron 45 (c-->t) plays a prevalent role in the partial skipping of exon 46 from the transcript of allele alphaLELY in erythroid cells.
British journal of haematology 1999;104(4):855-9.
1999: Pierre-Olivier Schischmanoff; Thérèse Cynober; F Miélot; L Leclerc; Corinne Vasseur-Godbillon; Véronique Baudin-Creuza; C Magowan; J Yeung; Narla Mohandas; Gil Tchernia; Jean Delaunay
Southeast Asian ovalocytosis in White persons.
Hemoglobin 1999;23(1):47-56.
1999: Philippe Maillet; Nicole Dalla Venezia; F Lorenzo; Madeleine Morinière; Muriel Bozon; B Noël; Jean Delaunay; Faouzi Baklouti
A premature termination codon within an alternative exon affecting only the metabolism of transcripts that retain this exon.
Human mutation 1999;14(2):145-55.
1998: Sabine Grootenboer; Pierre-Olivier Schischmanoff; Thérèse Cynober; J C Rodrigue; Jean Delaunay; Gil Tchernia; JP Dommergues
A genetic syndrome associating dehydrated hereditary stomatocytosis, pseudohyperkalaemia and perinatal oedema.
British journal of haematology 1998;103(2):383-6.
1998: Massimo Carella; G Stewart; JF Ajetunmobi; Silverio Perrotta; Sabine Grootenboer; Gil Tchernia; Jean Delaunay; Angela Totaro; Leopoldo Zelante; Paolo Gasparini; Achille Iolascon
Genomewide search for dehydrated hereditary stomatocytosis (hereditary xerocytosis): mapping of locus to chromosome 16 (16q23-qter).
American journal of human genetics 1998;63(3):810-6.
1998: N D Venezia; Philippe Maillet; Laurette Morlé; Laurent Roda; Jean Delaunay; Faouzi Baklouti
A large deletion within the protein 4.1 gene associated with a stable truncated mRNA and an unaltered tissue-specific alternative splicing.
Blood 1998;91(11):4361-7.
1998: S Hayette; G Carré; Muriel Bozon; Nicole Alloisio; Philippe Maillet; R Wilmotte; O Pascal; J Reynaud; O Reman; J L Stéphan; Laurette Morlé; Jean Delaunay
Two distinct truncated variants of ankyrin associated with hereditary spherocytosis.
American journal of hematology 1998;58(1):36-41.
1998: Achille Iolascon; Emanuele Miraglia del Giudice; Silverio Perrotta; Nicole Alloisio; Laurette Morlé; Jean Delaunay
Hereditary spherocytosis: from clinical to molecular defects.
Haematologica 1998;83(3):240-57.
1998: Philippe Maillet; Nicole Dalla Venezia; Muriel Bozon; A Vallier; Jean Delaunay; Faouzi Baklouti
A Dde I RFLP in exon 21 of human EL1 gene, encoding protein 4.1, detectable by SSCP.
Human mutation 1998;11(4):342-3.
1998: Emanuele Miraglia del Giudice; Matteo Francese; Bruno Nobili; Laurette Morlé; S Cutillo; Jean Delaunay; Silverio Perrotta
High frequency of de novo mutations in ankyrin gene (ANK1) in children with hereditary spherocytosis.
The Journal of pediatrics 1998;132(1):117-20.
1997: Akio Kanzaki; S Hayette; Laurette Morlé; F Inoue; R Matsuyama; T Inoue; Ayumi Yawata; Hideho Wada; A Vallier; Nicole Alloisio; Yoshihito Yawata; Jean Delaunay
Total absence of protein 4.2 and partial deficiency of band 3 in hereditary spherocytosis.
British journal of haematology 1997;99(3):522-30.
1997: R Wilmotte; Sandra L Harper; Jeanine A Ursitti; J Maréchal; Jean Delaunay; David W Speicher
The exon 46-encoded sequence is essential for stability of human erythroid alpha-spectrin and heterodimer formation.
Blood 1997;90(10):4188-96.
1997: Paolo Gasparini; Emanuele Miraglia del Giudice; Jean Delaunay; Angela Totaro; M Granatiero; Salvatore Melchionda; Leopoldo Zelante; Achille Iolascon
Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search.
American journal of human genetics 1997;61(5):1112-6.
1997: Ayumi Yawata; Akio Kanzaki; F Gilsanz; Jean Delaunay; Yoshihito Yawata
A markedly disrupted skeletal network with abnormally distributed intramembrane particles in complete protein 4.1-deficient red blood cells (allele 4.1 Madrid): implications regarding a critical role of protein 4.1 in maintenance of the integrity of the red blood cell membrane.
Blood 1997;90(6):2471-81.
1997: Paola Bianchi; Alberto Zanella; Nicole Alloisio; G Barosi; E Bredi; G Pelissero; M Zappa; Cristina Vercellati; L Baronciani; Jean Delaunay; Girolamo Sirchia
A variant of the EPB3 gene of the anti-Lepore type in hereditary spherocytosis.
British journal of haematology 1997;98(2):283-8.
1997: Nicole Alloisio; P Texier; A Vallier; Maria Letícia Ribeiro; Laurette Morlé; Muriel Bozon; E Bursaux; Philippe Maillet; Paula Gonçalves; Michael Tanner; Gabriel Tamagnini; Jean Delaunay
Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis.
Blood 1997;90(1):414-20.
1997: Laurette Morlé; Muriel Bozon; Nicole Alloisio; A Vallier; S Hayette; O Pascal; D Monier; N Philippe; B G Forget; Jean Delaunay
Ankyrin Bugey: a de novo deletional frameshift variant in exon 6 of the ankyrin gene associated with spherocytosis.
American journal of hematology 1997;54(3):242-8.
1997: J Randon; Emanuele Miraglia del Giudice; Muriel Bozon; Silverio Perrotta; M De Vivo; Achille Iolascon; Jean Delaunay; L Morle
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.
British journal of haematology 1997;96(3):500-6.
1997: Faouzi Baklouti; S C Huang; T J Vulliamy; Jean Delaunay; Edward J Benz
Organization of the human protein 4.1 genomic locus: new insights into the tissue-specific alternative splicing of the pre-mRNA.
Genomics 1997;39(3):289-302.
1997: Emanuele Miraglia del Giudice; A Vallier; Philippe Maillet; Silverio Perrotta; S Cutillo; Achille Iolascon; Michael Tanner; Jean Delaunay; Nicole Alloisio
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.
British journal of haematology 1997;96(1):70-6.
1996: Nicole Alloisio; Philippe Maillet; G Carré; P Texier; A Vallier; Faouzi Baklouti; N Philippe; Jean Delaunay
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).
Blood 1996;88(3):1062-9.
1996: Emanuele Miraglia del Giudice; Sandrine Hayette; Muriel Bozon; Silverio Perrotta; Nicole Alloisio; A Vallier; Achille Iolascon; Jean Delaunay; Laurette Morlé
Ankyrin Napoli: a de novo deletional frameshift mutation in exon 16 of ankyrin gene (ANK1) associated with spherocytosis.
British journal of haematology 1996;93(4):828-34.
1996: Jean Delaunay; Nicole Alloisio; L Morle; Faouzi Baklouti; Nicole Dalla Venezia; Philippe Maillet; R Wilmotte
Molecular genetics of hereditary elliptocytosis and hereditary spherocytosis.
Annales de génétique 1996;39(4):209-21.
1996: Philippe Maillet; T Inoue; Akio Kanzaki; Ayumi Yawata; K Kato; Faouzi Baklouti; Jean Delaunay; Yoshihito Yawata
Stop codon in exon 30 (E2069X) of beta-spectrin gene associated with hereditary elliptocytosis in spectrin Nagoya.
Human mutation 1996;8(4):366-8.
1996: Philippe Maillet; Nicole Alloisio; Laurette Morlé; Jean Delaunay
Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis.
Human mutation 1996;8(2):97-107.
1996: Philippe Maillet; Jean Delaunay; Faouzi Baklouti
Chimeric probe-mediated ribonuclease protection assay for molecular diagnosis of mRNA deficiencies.
Human mutation 1996;7(1):61-4.
1995: Philippe Maillet; A Vallier; W H Reinhart; E J Wyss; P Ott; P Texier; Faouzi Baklouti; Michael Tanner; Jean Delaunay; Nicole Alloisio
Band 3 Chur: a variant associated with band 3-deficient hereditary spherocytosis and substitution in a highly conserved position of transmembrane segment 11.
British journal of haematology 1995;91(4):804-10.
1995: Joan-Lluis Vives-Corrons; I Besson; Marta Aymerich; S Ayala; Nicole Alloisio; Jean Delaunay; I Gonzalez; E Manrubia
Hereditary xerocytosis: a report of six unrelated Spanish families with leaky red cell syndrome and increased heat stability of the erythrocyte membrane.
British journal of haematology 1995;90(4):817-22.
1995: Jean Delaunay
Genetic disorders of the red cell membranes.
FEBS letters 1995;369(1):34-7.
1995: J Maréchal; R Wilmotte; Akio Kanzaki; Didier Dhermy; Michel Garbarz; Colette Galand; T K Tang; Yoshihito Yawata; Jean Delaunay
Ethnic distribution of allele alpha LELY, a low-expression allele of red-cell spectrin alpha-gene.
British journal of haematology 1995;90(3):553-56.
1995: Jean Delaunay
Genetic disorders of the red cell membrane.
Critical reviews in oncology/hematology 1995;19(2):79-110.
1995: Sandrine Hayette; L Morle; Muriel Bozon; A Ghanem; M Risinger; C Korsgren; Michael Tanner; Slaheddine Fattoum; C M Cohen; Jean Delaunay
A point mutation in the protein 4.2 gene (allele 4.2 Tozeur) associated with hereditary haemolytic anaemia.
British journal of haematology 1995;89(4):762-70.
1995: Sandrine Hayette; Didier Dhermy; M E dos Santos; Muriel Bozon; D Drenckhahn; Nicole Alloisio; P Texier; Jean Delaunay; Laurette Morlé
A deletional frameshift mutation in protein 4.2 gene (allele 4.2 Lisboa) associated with hereditary hemolytic anemia.
Blood 1995;85(1):250-6.
1994: J Randon; L Boulanger; J Marechal; Michel Garbarz; A Vallier; L Ribeiro; Gabriel Tamagnini; Didier Dhermy; Jean Delaunay
A variant of spectrin low-expression allele alpha LELY carrying a hereditary elliptocytosis mutation in codon 28.
British journal of haematology 1994;88(3):534-40.
1994: F Lorenzo; Nicole Dalla Venezia; Laurette Morlé; Faouzi Baklouti; Nicole Alloisio; M T Ducluzeau; L Roda; P Lefrançois; Jean Delaunay
Protein 4.1 deficiency associated with an altered binding to the spectrin-actin complex of the red cell membrane skeleton.
The Journal of clinical investigation 1994;94(4):1651-6.
1994: R Wilmotte; Emanuele Miraglia del Giudice; J Marechal; Silverio Perrotta; D de Mattia; Jean Delaunay; Achille Iolascon
A deletional frameshift mutation in spectrin beta-gene associated with hereditary elliptocytosis in spectrin Napoli.
British journal of haematology 1994;88(2):437-9.
1994: L Boulanger; Didier Dhermy; Michel Garbarz; C Silva; J Randon; R Wilmotte; Jean Delaunay
A second allele of spectrin alpha-gene associated with the alpha I/65 phenotype (allele alpha Ponte de Sôr)
Blood 1994;84(6):2056.
1994: Silverio Perrotta; Emanuele Miraglia del Giudice; Nicole Alloisio; G Sciarratta; L Pinto; Jean Delaunay; S Cutillo; Achille Iolascon
Mild elliptocytosis associated with the alpha 34 Arg-->Trp mutation in spectrin Genova (alpha I/74).
Blood 1994;83(11):3346-9.
1993: Nicole Dalla Venezia; Nicole Alloisio; A Forissier; L Denoroy; Marta Aymerich; Joan-Lluis Vives-Corrons; J Besalduch; I Besson; Jean Delaunay
Elliptopoikilocytosis associated with the alpha 469 His-->Pro mutation in spectrin Barcelona (alpha I/50-46b).
Blood 1993;82(5):1661-5.
1993: Nicole Alloisio; Nicole Dalla Venezia; A Rana; K Andrabi; P Texier; F Gilsanz; J P Cartron; Jean Delaunay; Athar H Chishti
Evidence that red blood cell protein p55 may participate in the skeleton-membrane linkage that involves protein 4.1 and glycophorin C.
Blood 1993;82(4):1323-7.
1993: Nicole Alloisio; R Wilmotte; J Maréchal; P Texier; L Denoroy; C Féo; Z Benhadji-Zouaoui; Jean Delaunay
A splice site mutation of alpha-spectrin gene causing skipping of exon 18 in hereditary elliptocytosis.
Blood 1993;81(10):2791-8.
1993: R Wilmotte; J Maréchal; Laurette Morlé; Faouzi Baklouti; N Philippe; R Kastally; L Kotula; Jean Delaunay; Nicole Alloisio
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.
The Journal of clinical investigation 1993;91(5):2091-6.
1993: G Brunet; M T Ducluzeau; L Roda; P Lefrancois; Faouzi Baklouti; Jean Delaunay; J M Robert
Diffusion of a particular 4.1(-) hereditary elliptocytosis allele in the French Northern Alps.
Journal of biosocial science 1993;25(2):239-47.
1993: Nicole Dalla Venezia; R Wilmotte; Laurette Morlé; A Forissier; N Parquet; Michel Garbarz; T Rousset; Didier Dhermy; Nicole Alloisio; Jean Delaunay
An alpha-spectrin mutation responsible for hereditary elliptocytosis associated in cis with the alpha v/41 polymorphism.
Human genetics 1993;90(6):641-4.
1993: F Lorenzo; Emanuele Miraglia del Giudice; Nicole Alloisio; L Morle; A Forissier; Silverio Perrotta; G Sciarratta; Achille Iolascon; Jean Delaunay
Severe poikilocytosis associated with a de novo alpha 28 Arg-->Cys mutation in spectrin.
British journal of haematology 1993;83(1):152-7.
1992: S Feddal; Sandrine Hayette; Faouzi Baklouti; Ruth Rimokh; R Wilmotte; Jean-Pierre Magaud; J Maréchal; Edward J Benz; R Girot; Jean Delaunay
Prevalent skipping of an individual exon accounts for shortened protein 4.1 Presles.
Blood 1992;80(11):2925-30.
1992: Jean Delaunay; Nicole Alloisio; Laurette Morlé; R Wilmotte; J Maréchal; Faouzi Baklouti
Expression of spectrin mutations as a function of their topography.
Biochemical Society transactions 1992;20(4):782-5.
1992: Nicole Dalla Venezia; F Gilsanz; Nicole Alloisio; M T Ducluzeau; Edward J Benz; Jean Delaunay
Homozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene.
The Journal of clinical investigation 1992;90(5):1713-7.
1992: Emanuele Miraglia del Giudice; M T Ducluzeau; Nicole Alloisio; R Wilmotte; Jean Delaunay; Silverio Perrotta; S Cutillo; Achille Iolascon
Alpha I/65 hereditary elliptocytosis in southern Italy: evidence for an African origin.
Human genetics 1992;89(5):553-6.
1991: Faouzi Baklouti; J Marechal; L Morle; Nicole Alloisio; R Wilmotte; B Pothier; M T Ducluzeau; R Kastally; Jean Delaunay
Occurrence of the alpha I 22 Arg----His (CGT----CAT) spectrin mutation in Tunisia: potential association with severe elliptopoikilocytosis.
British journal of haematology 1991;78(1):108-13.
1991: Jean Delaunay; Nicole Alloisio; L Morle; Faouzi Baklouti
The genetic disorders of the red cell skeleton.
Nouvelle revue française d'hématologie 1991;33(2):63-70.
1990: D Guetarni; A F Roux; Nicole Alloisio; François Morlé; M T Ducluzeau; Bernard G Forget; P Colonna; Jean Delaunay; Jacqueline Godet
Evidence that expression of Sp alpha I/65 hereditary elliptocytosis is compounded by a genetic factor that is linked to the homologous alpha-spectrin allele.
Human genetics 1990;85(6):627-30.
1990: Laurette Morlé; A F Roux; Nicole Alloisio; B Pothier; Joëlle Starck; L Denoroy; François Morlé; R C Rudigoz; Bernard G Forget; Jean Delaunay
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).
The Journal of clinical investigation 1990;86(2):548-54.
1990: A Ghanem; B Pothier; J Marechal; M T Ducluzeau; L Morle; Nicole Alloisio; C Feo; A Ben Abdeladhim; Slaheddine Fattoum; Jean Delaunay
A haemolytic syndrome associated with the complete absence of red cell membrane protein 4.2 in two Tunisian siblings.
British journal of haematology 1990;75(3):414-20.
1990: B Pothier; Nicole Alloisio; J Maréchal; Laurette Morlé; M T Ducluzeau; C Caldani; N Philippe; Jean Delaunay
Assignment of Sp alpha I/74 hereditary elliptocytosis to the alpha- or beta-chain of spectrin through in vitro dimer reconstitution.
Blood 1990;75(10):2061-9.
1990: Jean Delaunay; Nicole Alloisio; Laurette Morlé; B Pothier
The red cell skeleton and its genetic disorders.
Molecular aspects of medicine 1990;11(3):161-241.
1989: B Pothier; Nicole Alloisio; Laurette Morlé; J Maréchal; H Barthélemy; M T Ducluzeau; A Dorier; Jean Delaunay
Two distinct variants of erythrocyte spectrin beta IV domain.
Human genetics 1989;83(4):373-6.
1989: Laurette Morlé; François Morlé; A F Roux; Jacqueline Godet; Bernard G Forget; L Denoroy; Michel Garbarz; Didier Dhermy; R Kastally; Jean Delaunay
Spectrin Tunis (Sp alpha I/78), an elliptocytogenic variant, is due to the CGG----TGG codon change (Arg----Trp) at position 35 of the alpha I domain.
Blood 1989;74(2):828-32.
1989: A F Roux; François Morlé; D Guetarni; P Colonna; K Sahr; Bernard G Forget; Jean Delaunay; Jacqueline Godet
Molecular basis of Sp alpha I/65 hereditary elliptocytosis in North Africa: insertion of a TTG triplet between codons 147 and 149 in the alpha-spectrin gene from five unrelated families.
Blood 1989;73(8):2196-201.
1989: Laurette Morlé; B Pothier; Nicole Alloisio; C Féo; R Garay; M Bost; Jean Delaunay
Reduction of membrane band 7 and activation of volume stimulated (K+, Cl-)-cotransport in a case of congenital stomatocytosis.
British journal of haematology 1989;71(1):141-6.
1988: Faouzi Baklouti; V Baudin-Chich; Jean Kister; Michael C Marden; G Teyssier; Claude Poyart; Jean Delaunay; Henri Wajcman
Increased oxygen affinity with normal heterotropic effects in hemoglobin Loire [alpha 88(F9)Ala----Ser].
European journal of biochemistry / FEBS 1988;177(2):307-12.
1988: Jean Delaunay; B Pothier; Faouzi Baklouti; Laurette Morlé
[Interaction between various alkylxanthines and the proteins of the erythrocyte skeleton].
Pathologie-biologie 1988;36(8 Pt 2):1076-80.
1988: Faouzi Baklouti; Alain Francina; E Dorléac; V Baudin-Chich; G Gombaud-Saintonge; H Plauchu; Henri Wajcman; Jean Delaunay; Jacqueline Godet
Asymptomatic association of hemoglobin Dunn (alpha 6[A4]Asp----Asn) and hemoglobin O-Arab (beta 121[GH4]Glu----Lys) in a Moroccan man.
American journal of hematology 1988;27(4):253-6.
1988: Nicole Alloisio; Laurette Morlé; B Pothier; A F Roux; J Maréchal; M T Ducluzeau; Z Benhadji-Zouaoui; Jean Delaunay
Spectrin Oran (alpha II/21), a new spectrin variant concerning the alpha II domain and causing severe elliptocytosis in the homozygous state.
Blood 1988;71(4):1039-47.
1988: Laurette Morlé; Nicole Alloisio; M T Ducluzeau; B Pothier; R Blibech; R Kastally; Jean Delaunay
Spectrin Tunis (alpha I/78): a new alpha I variant that causes asymptomatic hereditary elliptocytosis in the heterozygous state.
Blood 1988;71(2):508-11.
1987: Faouzi Baklouti; Alain Francina; E Dorléac; G Richard; D Rosenberg; Jacqueline Godet; Jean Delaunay
Association in cis of beta +-thalassemia and hemoglobin S.
American journal of hematology 1987;26(3):237-45.
1987: F Vandenesch; Faouzi Baklouti; Alain Francina; C Vianey-Liaud; A Bertrand; C Le Dévéhat; Jean Delaunay
Hemoglobin J-Baltimore (beta 16(A13)Gly----Asp): interference with the assay of HbA1c.
Clinica chimica acta; international journal of clinical chemistry 1987;168(2):121-8.
1987: D Sondag; Nicole Alloisio; D Blanchard; M T Ducluzeau; P Colonna; Dora Bachir; C Bloy; J P Cartron; Jean Delaunay
Gerbich reactivity in 4.1 (-) hereditary elliptocytosis and protein 4.1 level in blood group Gerbich deficiency.
British journal of haematology 1987;65(1):43-50.
1987: Alain Francina; C Lacombe; Faouzi Baklouti; E Dorléac; Jean Delaunay; G Souillet; R C Rudigoz; N Arous; J Rosa; F Galacteros
A new case of Hb Little Rock [beta 143(H21)His----Gln], a high affinity variant. Study during pregnancy.
Hemoglobin 1987;11(2):113-22.
1986: Nicole Alloisio; D Guetarni; Laurette Morlé; B Pothier; M T Ducluzeau; A Soun; P Colonna; M Clerc; N Philippe; Jean Delaunay
Sp alpha I/65 hereditary elliptocytosis in North Africa.
American journal of hematology 1986;23(2):113-22.
1986: Faouzi Baklouti; E Dorléac; Laurette Morlé; P Laselve; D Peyramond; Martine Aubry; Jacqueline Godet; Jean Delaunay
Homozygous hemoglobin Knossos (alpha 2 beta 227(B9) Ala----Ser): a new variety of beta (+)-thalassemia intermedia associated with delta (0)-thalassemia.
Blood 1986;67(4):957-61.
1985: Jean Delaunay; Nicole Alloisio; L Morle
The 4.1.(-) hereditary elliptocytosis.
Acta médica portuguesa 1985;6(7-8):S14-6.
1985: Nicole Alloisio; Laurette Morlé; Dora Bachir; D Guetarni; P Colonna; Jean Delaunay
Red cell membrane sialoglycoprotein beta in homozygous and heterozygous 4.1(-) hereditary elliptocytosis.
Biochimica et biophysica acta 1985;816(1):57-62.
1985: Alain Francina; E Dorleac; Martine Aubry; Faouzi Baklouti; S Elwan; L Roda; N Phillipe; Jean Delaunay
Hb Lepore-Hb C and Hb Lepore-beta 0-thalassemia compound heterozygotes in an Algerian family.
Hemoglobin 1985;9(5):505-8.
1984: François Morlé; Laurette Morlé; Faouzi Baklouti; E Dorléac; C Baudonnet; Jean Delaunay; Jacqueline Godet
The Hb F composition in a Moroccan family with beta zero-thalassaemia and Hb O-Arab.
Scandinavian journal of haematology 1984;33(3):281-7.
1984: E Dorléac; Laurette Morlé; O Gentilhomme; P Jaccoud; C Baudonnet; Jean Delaunay
Thalassemia-like abnormalities of the red cell membrane in hemoglobin E trait and disease.
American journal of hematology 1984;16(3):207-17.
1984: Laurette Morlé; François Morlé; E Dorléac; Faouzi Baklouti; C Baudonnet; Jacqueline Godet; Jean Delaunay
The association of hemoglobin Knossos and hemoglobin Lepore in an Algerian patient.
Hemoglobin 1984;8(3):229-38.
1984: F Morle; P Jaccoud; E Dorleac; M Motta; Jean Delaunay; Jacqueline Godet
Alpha-globin gene deletions associated with alpha A and alpha G Philadelphia in an Algerian family that includes two Hb G homozygotes.
Human genetics 1984;65(3):303-7.
1983: Nicole Alloisio; E Dorleac; L Morle; R Girot; C Galant; P Boivin; Jean Delaunay
The genetic abnormalities involving red cell membrane protein 4.1 with or without elliptocytosis.
Biomedica biochimica acta 1983;42(11-12):S38-42.
1982: Laurette Morlé; E Dorléac; Nicole Alloisio; P Jaccoud; P Colonna; Dora Bachir; Jean Delaunay
Kinetic alterations of the red cell membrane phosphatase in alpha- and beta-thalassemia.
American journal of hematology 1982;13(4):269-82.
1982: Nicole Alloisio; P Jaccoud; E Dorleac; L Morle; Noël Philippe; G Margueritte; P A Bryon; Jean Delaunay
Alterations of globin chain synthesis and of red cell membrane proteins in congenital dyserythropoietic anemia I and II.
Pediatric research 1982;16(12):1016-21.
1982: Nicole Alloisio; E Dorléac; Jean Delaunay; R Girot; Colette Galand; P Boivin
A shortened variant of red cell membrane protein 4.1.
Blood 1982;60(1):265-7.
1982: Alain Francina; E Dorléac; C Baudonnet; P Jaccoud; Jean Delaunay
Microchromatofocusing of hemoglobins. Increased hemoglobin A2 percentage in sickle cell trait.
Clinica chimica acta; international journal of clinical chemistry 1982;121(2):261-4.
1982: Alain Francina; C Baudonnet; E Dorléac; F Galacteros; Jean Delaunay
The screening of alpha- and beta-globin chain variants with isoelectric focusing.
Hemoglobin 1982;6(5):481-91.
1981: François Morlé; Laurette Morlé; M Aguercif; Nicole Alloisio; Jean Delaunay
Kinetic alteration of the K+ -sensitive p-nitrophenylphosphatase in red cell membrane from beta-thalassemic patients.
Clinica chimica acta; international journal of clinical chemistry 1981;115(2):235-9.
1981: Nicole Alloisio; E Dorléac; R Girot; Jean Delaunay
Analysis of the red cell membrane in a family with hereditary elliptocytosis--total or partial of protein 4.1.
Human genetics 1981;59(1):68-71.
1980: F Morle; L Morle; M Aguercif; Nicole Alloisio; Jean Delaunay
[A molecular abnormality of the erythrocyte membrane in beta-thalassemia].
Comptes rendus des séances de la Société de biologie et de ses filiales 1980;174(4):598-604.