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Laure Thuillier

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M N Feuillet-Fieux; Magali Ferrec; Nadine Gigarel; Laure Thuillier; Isabelle Sermet; Julie Steffann; Gérard Lenoir; Jean-Paul Bonnefont
Novel CFTR mutations in black cystic fibrosis patients.
Stéphanie Gobin; Laure Thuillier; Gerwald Jogl; Audrey Faye; Liang Tong; Mihaiti Chi; Jean-Paul Bonnefont; JEAN R GIRARD; Carina Prip-Buus
Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.
Bernadette Chadefaux Vekemans; Jean-Paul Bonnefont; Joelle Aupetit; Ghislaine Royer; Véronique Droin; Tania Attié-Bitach; Jean-Marie Saudubray; Laure Thuillier
Prenatal diagnosis of carnitine palmitoyltransferase 2 deficiency in chorionic villi: a novel approach.

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All Publications

2004: M N Feuillet-Fieux; Magali Ferrec; Nadine Gigarel; Laure Thuillier; Isabelle Sermet; Julie Steffann; Gérard Lenoir; Jean-Paul Bonnefont
Novel CFTR mutations in black cystic fibrosis patients.
Clinical genetics 2004;65(4):284-7.
2003: Stéphanie Gobin; Laure Thuillier; Gerwald Jogl; Audrey Faye; Liang Tong; Mihaiti Chi; Jean-Paul Bonnefont; JEAN R GIRARD; Carina Prip-Buus
Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.
The Journal of biological chemistry 2003;278(50):50428-34.
2003: Bernadette Chadefaux Vekemans; Jean-Paul Bonnefont; Joelle Aupetit; Ghislaine Royer; Véronique Droin; Tania Attié-Bitach; Jean-Marie Saudubray; Laure Thuillier
Prenatal diagnosis of carnitine palmitoyltransferase 2 deficiency in chorionic villi: a novel approach.
Prenatal diagnosis 2003;23(11):884-7.
2003: Fatima Djouadi; Jean-Paul Bonnefont; Laure Thuillier; Véronique Droin; Noman Khadom; Arnold Munnich; Jean Bastin
Correction of fatty acid oxidation in carnitine palmitoyl transferase 2-deficient cultured skin fibroblasts by bezafibrate.
Pediatric research 2003;54(4):446-51.
2003: Laure Thuillier; Hidayeth Rostane; Véronique Droin; France Demaugre; Michèle Brivet; Noman Kadhom; Carina Prip-Buus; Stéphanie Gobin; Jean-Marie Saudubray; Jean-Paul Bonnefont
Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.
Human mutation 2003;21(5):493-501.
2002: Stéphanie Gobin; Jean-Paul Bonnefont; Carina Prip-Buus; Claude Mugnier; Magali Ferrec; France Demaugre; Jean-Marie Saudubray; Hidayeth Rostane; Fatima Djouadi; William Wilcox; Stephen Cederbaum; Richard Haas; William L Nyhan; Anne Green; George Gray; JEAN R GIRARD; Laure Thuillier
Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.
Human genetics 2002;111(2):179-89.
2001: Chitra Prasad; J P Johnson; Jean-Paul Bonnefont; LA Dilling; A Micheil Innes; James C Haworth; L Beischel; Laure Thuillier; Carina Prip-Buus; R Singal; J R Thompson; Asuri N Prasad; N Buist; Cheryl R Greenberg
Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): evidence for a founder effect and results of a pilot study on a DNA-based newborn screening program.
Molecular genetics and metabolism 2001;73(1):55-63.
2001: Carina Prip-Buus; Laure Thuillier; N Abadi; Chitra Prasad; LA Dilling; J Klasing; France Demaugre; Cheryl R Greenberg; James C Haworth; Véronique Droin; Noman Kadhom; Stéphanie Gobin; Pierre Kamoun; JEAN R GIRARD; Jean-Paul Bonnefont
Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community.
Molecular genetics and metabolism 2001;73(1):46-54.
2000: M N Feuillet-Fieux; Isabelle Sermet; Aleksander Edelman; Tania Torossi; Magali Ferrec; M Guillot; Gérard Lenoir; Jean-Paul Bonnefont; Laure Thuillier
Identification of a novel mutation, 1087delT, in exon 7 of the CFTR gene in a patient with cystic fibrosis.
Human mutation 2000;16(1):95.
2000: Laure Thuillier; Caroline Sevin; France Demaugre; Michèle Brivet; Daniel Rabier; Véronique Droin; Joelle Aupetit; N Abadi; Pierre Kamoun; Jean-Marie Saudubray; Jean-Paul Bonnefont
Genotype/phenotype correlation in carnitine palmitoyl transferase II deficiency: lessons from a compound heterozygous patient.
Neuromuscular disorders : NMD 2000;10(3):200-5.
1999: Jean-Paul Bonnefont; France Demaugre; Carina Prip-Buus; Jean-Marie Saudubray; Michèle Brivet; N Abadi; Laure Thuillier
Carnitine palmitoyltransferase deficiencies.
Molecular genetics and metabolism 1999;68(4):424-40.
1999: Michèle Brivet; Audrey Boutron; Abdelhamid Slama; C Costa; Laure Thuillier; France Demaugre; Daniel Rabier; Jean-Marie Saudubray; Jean-Paul Bonnefont
Defects in activation and transport of fatty acids.
Journal of inherited metabolic disease 1999;22(4):428-41.
1998: Laure Thuillier; Bernadette Chadefaux-Vekemans; Jean-Paul Bonnefont; A Kara; Joelle Aupetit; C Rochette; Gilles Montalescot; M C Couty; Pierre Kamoun; Annick Ankri
Does the polymorphism 677C-T of the 5,10-methylenetetrahydrofolate reductase gene contribute to homocysteine-related vascular disease?
Journal of inherited metabolic disease 1998;21(8):812-22.
1997: Jean-Paul Bonnefont; Laure Thuillier; Nadine Gigarel; C Rochette; M L Briard; Arnold Munnich
Prenatal diagnosis of cystic fibrosis.
Pediatric pulmonology. Supplement 1997;16():63-4.
1994: Laure Thuillier; Claire Hivroz; Remi Fagard; C Andreoli; P Mangeat
Ligation of CD4 surface antigen induces rapid tyrosine phosphorylation of the cytoskeletal protein ezrin.
Cellular immunology 1994;156(2):322-31.
1991: Laure Thuillier; J L Pérignon; Françoise Selz; C Griscelli; Alain Fischer
Opposing effects of protein tyrosine kinase inhibitors on the monoclonal antibody induced internalization of CD3 and CD4 antigens.
European journal of immunology 1991;21(10):2641-3.
1990: Laure Thuillier; Françoise Selz; P Métézeau; J L Pérignon
The activation of protein kinase C is not necessary for the monoclonal antibody-induced modulation of CD3 and CD4 antigens.
European journal of immunology 1990;20(5):1197-200.
1987: J L Pérignon; D M Bories; A M Houllier; Laure Thuillier; P H Cartier
Metabolism of pyrimidine bases and nucleosides by pyrimidine-nucleoside phosphorylases in cultured human lymphoid cells.
Biochimica et biophysica acta 1987;928(2):130-6.
1986: H A Buc; Laure Thuillier; M Hamet; F Garreau; A Moncion; J L Pérignon
Energy metabolism in adenosine deaminase-inhibited human erythrocytes.
Clinica chimica acta; international journal of clinical chemistry 1986;156(1):61-9.
1986: J L Pérignon; Laure Thuillier; M Hamet; A M Houllier; P H Cartier
Synergistic toxicity of pyrazofurin and cytidine in cytidine deaminase deficient lymphoid cells (Raji).
International journal of immunopharmacology 1986;8(4):427-31.
1986: J L Pérignon; F Le Deist; F Arenzana-Seisdedos; Laure Thuillier; A Fischer; P Cartier; C Griscelli
Cytidine deaminase deficiency in a child with combined immunodeficiency: more than a coincidence?
Advances in experimental medicine and biology 1986;195 Pt A():129-35.
1985: Laure Thuillier; F Arenzana-Seisdedos; J L Pérignon; A Munier; M Hamet; P H Cartier
Interleukin 2 liberation and absorption capacities of rat T lymphocytes in conditions of severe adenylic nucleotide pool depletion due to adenosine deaminase deficiency.
Immunopharmacology 1985;10(2):89-97.
1985: J L Pérignon; J Chaléon; G Leverger; A M Houllier; Laure Thuillier; P H Cartier
Cytidine deaminase activity of human normal and malignant lymphoid cells.
Clinica chimica acta; international journal of clinical chemistry 1985;147(2):67-74.
1984: Laure Thuillier; J L Perignon; A M Houllier; A Munier; P Cartier
Consequences of the salvage of purine compounds on the proliferation of rat T-lymphocytes with normal or inhibited purine de novo synthesis.
Biochimica et biophysica acta 1984;798(3):343-9.
1984: L Christa; Laure Thuillier; A Munier; J L Perignon
Salvage of 5'-deoxy-methylthioadenosine into purines and methionine by lymphoid cells and inhibition of cell proliferation.
Biochimica et biophysica acta 1984;803(1-2):7-10.
1983: L Christa; Laure Thuillier; J L Perignon
5'-Deoxy-5'-methylthioadenosine inhibition of rat T lymphocyte phosphodiesterase: correlation with inhibition of Con A induced proliferation.
Biochemical and biophysical research communications 1983;113(2):425-32.
1982: G Bismuth; Laure Thuillier; J L Perignon; P H Cartier
Uridine as the only alternative to pyrimidine de novo synthesis in rat T lymphocytes.
FEBS letters 1982;148(1):135-9.
1982: Laure Thuillier; F Garreau; M Hamet; P Cartier
De novo purine and pyrimidine biosynthesis during thymocyte concanavalin A stimulation.
Experimental cell research 1982;141(2):341-9.
1982: P H Cartier; Laure Thuillier; F Garreau
Isopycnic centrifugation as method for the separation of rat thymocyte subpopulations.
Thymus 1982;4(6):351-64.
1981: J London; Laure Thuillier; F Garreau; M Petit
Study of rat lymphocytes by use of peanut agglutinin.
Thymus 1981;3(4-5):277-87.
1981: Laure Thuillier; F Garreau; P H Cartier
Consequences of adenosine deaminase deficiency on thymocyte metabolism.
European journal of immunology 1981;11(10):788-94.
1981: Laure Thuillier; F Garreau; P Cartier
Inability of immunocompetent thymocytes to produce T-cell growth factor under adenosine deaminase deficiency conditions.
Cellular immunology 1981;63(1):81-90.