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Yves Nordmann

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Yves Nordmann; Hervé Puy
Human hereditary hepatic porphyrias.
Ulrich Gross; Hervé Puy; U Meissauer; Jérôme Lamoril; Jean-Charles Deybach; Margareta Doss; Yves Nordmann; Manfred O Doss
A molecular, enzymatic and clinical study in a family with hereditary coproporphyria.
Ulrich Gross; Hervé Puy; Alexandra Kühnel; U Meissauer; Jean-Charles Deybach; Karl Jacob; Pavel Martasek; Yves Nordmann; Manfred O Doss
Molecular, immunological, enzymatic and biochemical studies of coproporphyrinogen oxidase deficiency in a family with hereditary coproporphyria.

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All Publications

2002: Yves Nordmann; Hervé Puy
Human hereditary hepatic porphyrias.
Clinica chimica acta; international journal of clinical chemistry 2002;325(1-2):17-37.
2002: Ulrich Gross; Hervé Puy; U Meissauer; Jérôme Lamoril; Jean-Charles Deybach; Margareta Doss; Yves Nordmann; Manfred O Doss
A molecular, enzymatic and clinical study in a family with hereditary coproporphyria.
Journal of inherited metabolic disease 2002;25(4):279-86.
2002: Ulrich Gross; Hervé Puy; Alexandra Kühnel; U Meissauer; Jean-Charles Deybach; Karl Jacob; Pavel Martasek; Yves Nordmann; Manfred O Doss
Molecular, immunological, enzymatic and biochemical studies of coproporphyrinogen oxidase deficiency in a family with hereditary coproporphyria.
Cellular and molecular biology (Noisy-le-Grand, France) 2002;48(1):49-55.
2002: Manfred O Doss; Ulrich Gross; Hervé Puy; Margareta Doss; Alexandra Kühnel; Karl Jacob; Jean-Charles Deybach; Yves Nordmann
[Coexistence of hereditary coproporphyria and porphyria cutanea tarda: a new form of dual porphyria].
Medizinische Klinik (Munich, Germany : 1983) 2002;97(1):1-5.
2001: Brigitte Granel; Jacques Serratrice; R Bouabdallah; Xavier Pache; C Weiller-Merli; Laure Swiader; R Aquaron; Patrick Disdier; Yves Nordmann; Pierre-Jean Weiller
Atypical porphyria cutanea tarda in a patient with chronic myelogenous leukemia.
Dermatology (Basel, Switzerland) 2001;203(1):82-3.
2000: Yves Nordmann
[Biological diagnosis of porphyria cutanea tarda].
Annales de dermatologie et de vénéréologie 2000;127(10):860-1.
2000: A M Robreau-Fraolini; Hervé Puy; C Aquaron; C Bogard; M Traore; Yves Nordmann; R Aquaron; Jean-Charles Deybach
Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms.
Human genetics 2000;107(2):150-9.
2000: Xiaoye Schneider-Yin; C Bogard; Urszula B Rüfenacht; Hervé Puy; Yves Nordmann; Elisabeth I Minder; Jean-Charles Deybach
Identification of a prevalent nonsense mutation (W283X) and two novel mutations in the porphobilinogen deaminase gene of Swiss patients with acute intermittent porphyria.
Human heredity 2000;50(4):247-50.
2000: Christophe Andant; Hervé Puy; C Bogard; J Faivre; Jean-Claude Soulé; Yves Nordmann; Jean-Charles Deybach
Hepatocellular carcinoma in patients with acute hepatic porphyria: frequency of occurrence and related factors.
Journal of hepatology 2000;32(6):933-9.
1999: Ulrich Gross; Hervé Puy; Margareta Doss; Anne-Marie Robreau; Yves Nordmann; Manfred O Doss; Jean-Charles Deybach
New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria.
Molecular and cellular probes 1999;13(6):443-7.
1999: Sharon D Whatley; Hervé Puy; Rhian R Morgan; Anne-Marie Robreau; Andrew G Roberts; Yves Nordmann; George H Elder; Jean-Charles Deybach
Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation.
American journal of human genetics 1999;65(4):984-94.
1999: Manfred O Doss; Ulrich Gross; Jérôme Lamoril; C Kranl; Karl Jacob; Margareta Doss; Vasco Da Silva; AG Freesemann; Jean-Charles Deybach; Norbert Sepp; Yves Nordmann
Compound heterozygous hereditary coproporphyria with fluorescing teeth.
Annals of clinical biochemistry 1999;36 ( Pt 5)():680-2.
1999: Yves Nordmann; Hervé Puy; Jean-Charles Deybach
[Hepatic porphyria].
La Revue de médecine interne / fondée ... par la Société nationale francaise de médecine interne 1999;20(4):333-40.
1999: Said Lyoumi; H Puy; Fabienne Tamion; C Bogard; Antony Leplingard; michel scotté; Roger Vranckx; Francis Gauthier; Martine Hiron; Maryvonne Daveau; Yves Nordmann; J C Deybach; JP Lebreton
Heme and acute inflammation role in vivo of heme in the hepatic expression of positive acute-phase reactants in rats.
European journal of biochemistry / FEBS 1999;261(1):190-6.
1999: Laurent Gouya; Hervé Puy; Jérôme Lamoril; Vasco Da Silva; Bernard Grandchamp; Yves Nordmann; Jean-Charles Deybach
Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation.
Blood 1999;93(6):2105-10.
1999: Yves Nordmann; Hervé Puy; Jean-Charles Deybach
The porphyrias.
Journal of hepatology 1999;30 Suppl 1():12-6.
1999: D Tchernitchko; Jérôme Lamoril; Hervé Puy; Anne-Marie Robreau; C Bogard; Robert Rosipal; Laurent Gouya; Jean-Charles Deybach; Yves Nordmann
Evaluation of mutation screening by heteroduplex analysis in acute intermittent porphyria: comparison with denaturing gradient gel electrophoresis.
Clinica chimica acta; international journal of clinical chemistry 1999;279(1-2):133-43.
1999: Robert Rosipal; Jérôme Lamoril; Hervé Puy; Vasco Da Silva; Laurent Gouya; F W De Rooij; K Te Velde; Yves Nordmann; P Martàsek; Jean-Charles Deybach
Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update.
Human mutation 1999;13(1):44-53.
1998: Hervé Puy; Ulrich Gross; Jean-Charles Deybach; A M Robréau; M Frank; Yves Nordmann; Margareta Doss
Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria.
Human genetics 1998;103(5):570-5.
1998: Andrew G Roberts; Hervé Puy; Tamara A Dailey; Rhian R Morgan; Sharon D Whatley; Harry A. Dailey; Pavel Martasek; Yves Nordmann; Jean-Charles Deybach; George H Elder
Molecular characterization of homozygous variegate porphyria.
Human molecular genetics 1998;7(12):1921-5.
1998: Said Lyoumi; H Puy; Fabienne Tamion; michel scotté; Maryvonne Daveau; Yves Nordmann; JP Lebreton; J C Deybach
Nitric oxide synthase inhibition and the induction of cytochrome P-450 affect heme oxygenase-1 messenger RNA expression after partial hepatectomy and acute inflammation in rats.
Critical care medicine 1998;26(10):1683-9.
1998: Ulrich Gross; S Sassa; Karl Jacob; Jean-Charles Deybach; Yves Nordmann; M Frank; Manfred O Doss
5-Aminolevulinic acid dehydratase deficiency porphyria: a twenty-year clinical and biochemical follow-up.
Clinical chemistry 1998;44(9):1892-6.
1998: Urszula B Rüfenacht; Laurent Gouya; Xiaoye Schneider-Yin; Hervé Puy; B W Schäfer; R Aquaron; Yves Nordmann; Elisabeth I Minder; Jean-Charles Deybach
Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.
American journal of human genetics 1998;62(6):1341-52.
1998: Jérôme Lamoril; Christophe Andant; C Bogard; Hervé Puy; Laurent Gouya; J M Pawlotsky; Vasco Da Silva; Jean-Claude Soulé; Jean-Charles Deybach; Yves Nordmann
Epidemiology of hepatitis C and G in sporadic and familial porphyria cutanea tarda.
Hepatology (Baltimore, Md.) 1998;27(3):848-52.
1998: Jérôme Lamoril; Hervé Puy; Laurent Gouya; Robert Rosipal; Vasco Da Silva; Bernard Grandchamp; T Foint; Brigitte Bader-Meunier; JP Dommergues; Jean-Charles Deybach; Yves Nordmann
Neonatal hemolytic anemia due to inherited harderoporphyria: clinical characteristics and molecular basis.
Blood 1998;91(4):1453-7.
1998: Yves Nordmann
[Acute hepatic porphyrias].
La Revue de médecine interne / fondée ... par la Société nationale francaise de médecine interne 1998;19 Suppl 3():358S-360S.
1997: Yves Nordmann; Hervé Puy; Vasco Da Silva; S Simonin; Anne-Marie Robreau; C Bonaiti; L N Phung; Jean-Charles Deybach
Acute intermittent porphyria: prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France.
Journal of internal medicine 1997;242(3):213-7.
1997: Christophe Andant; Hervé Puy; Jean-Charles Deybach; Jean-Claude Soulé; Yves Nordmann
Occurrence of hepatocellular carcinoma in a case of hereditary coproporphyria.
The American journal of gastroenterology 1997;92(8):1389-90.
1997: Hervé Puy; Jean-Charles Deybach; Jérôme Lamoril; Anne-Marie Robreau; Vasco Da Silva; Laurent Gouya; Bernard Grandchamp; Yves Nordmann
Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.
American journal of human genetics 1997;60(6):1373-83.
1997: Robert Rosipal; Hervé Puy; Jérôme Lamoril; Pavel Martasek; Yves Nordmann; Jean-Charles Deybach
Molecular analysis of porphobilinogen (PBG) deaminase gene mutations in acute intermittent porphyria: first study in patients of Slavic origin.
Scandinavian journal of clinical and laboratory investigation 1997;57(3):217-24.
1997: Hervé Puy; R Aquaron; Jérôme Lamoril; A M Robréau; Yves Nordmann; Jean-Charles Deybach
Acute intermittent porphyria: rapid molecular diagnosis.
Cellular and molecular biology (Noisy-le-Grand, France) 1997;43(1):37-45.
1997: Jérôme Lamoril; Jean-Charles Deybach; Hervé Puy; Bernard Grandchamp; Yves Nordmann
Three novel mutations in the coproporphyrinogen oxidase gene.
Human mutation 1997;9(1):78-80.
1996: Bernard Grandchamp; Hervé Puy; Jérôme Lamoril; Jean-Charles Deybach; Yves Nordmann
Review: molecular pathogenesis of hepatic acute porphyrias.
Journal of gastroenterology and hepatology 1996;11(11):1046-52.
1996: Hervé Puy; A M Robréau; Robert Rosipal; Yves Nordmann; Jean-Charles Deybach
Protoporphyrinogen oxidase: complete genomic sequence and polymorphisms in the human gene.
Biochemical and biophysical research communications 1996;226(1):226-30.
1996: Hervé Puy; Jean-Charles Deybach; Jérôme Lamoril; Anne-Marie Robreau; Yves Nordmann
Detection of four novel mutations in the porphobilinogen deaminase gene in French Caucasian patients with acute intermittent porphyria.
Human heredity 1996;46(3):177-80.
1996: Jean-Charles Deybach; Hervé Puy; A M Robréau; Jérôme Lamoril; Vasco Da Silva; Bernard Grandchamp; Yves Nordmann
Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria.
Human molecular genetics 1996;5(3):407-10.
1996: Laurent Gouya; Jean-Charles Deybach; Jérôme Lamoril; Vasco Da Silva; C Beaumont; Bernard Grandchamp; Yves Nordmann
Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele.
American journal of human genetics 1996;58(2):292-9.
1995: Vasco Da Silva; S Simonin; Jean-Charles Deybach; Hervé Puy; Yves Nordmann
Variegate porphyria: diagnostic value of fluorometric scanning of plasma porphyrins.
Clinica chimica acta; international journal of clinical chemistry 1995;238(2):163-8.
1995: Jérôme Lamoril; Pavel Martasek; Jean-Charles Deybach; Vasco Da Silva; Bernard Grandchamp; Yves Nordmann
A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria.
Human molecular genetics 1995;4(2):275-8.
1994: X F Gu; Felix W M de Rooij; G Voortman; K Te Velde; Jean-Charles Deybach; Yves Nordmann; Bernard Grandchamp
Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis.
Human genetics 1994;93(1):47-52.
1994: Jean-Charles Deybach; Hervé Puy; Yves Nordmann
[Hepatic porphyrias and drugs].
Gastroentérologie clinique et biologique 1994;18(4):348-53.
1993: X F Gu; Felix W M de Rooij; E de Baar; M Bruyland; Willy Lissens; Yves Nordmann; Bernard Grandchamp
Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria.
Human molecular genetics 1993;2(10):1735-6.
1993: S Boulechfar; Jérôme Lamoril; Xavier Montagutelli; J L Guenet; Jean-Charles Deybach; Yves Nordmann; Harry A. Dailey; Bernard Grandchamp; Hubert de Verneuil
Ferrochelatase structural mutant (Fechm1Pas) in the house mouse.
Genomics 1993;16(3):645-8.
1993: X F Gu; Felix W M de Rooij; J S Lee; K Te Velde; Jean-Charles Deybach; Yves Nordmann; Bernard Grandchamp
High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria.
Human genetics 1993;91(2):128-30.
1993: Yves Nordmann; Jean-Charles Deybach
[Acute attacks of hepatic porphyria: specific treatment with heme arginate].
Annales de médecine interne 1993;144(3):165-7.
1993: Hervé Puy; Jean-Charles Deybach; P Baudry; J Callebert; Y Touitou; Yves Nordmann
Decreased nocturnal plasma melatonin levels in patients with recurrent acute intermittent porphyria attacks.
Life sciences 1993;53(8):621-7.
1992: X F Gu; Felix W M de Rooij; G Voortman; K Te Velde; Yves Nordmann; Bernard Grandchamp
High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria.
American journal of human genetics 1992;51(3):660-5.
1992: Yves Nordmann
Erythropoietic protoporphyria and hepatic complications.
Journal of hepatology 1992;16(1-2):4-6.
1992: Hubert de Verneuil; F Bourgeois; Felix W M de Rooij; P D Siersema; J H Wilson; Bernard Grandchamp; Yves Nordmann
Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria.
Human genetics 1992;89(5):548-52.
1992: S Boulechfar; V Da Silva; Jean-Charles Deybach; Yves Nordmann; Bernard Grandchamp; Hubert de Verneuil
Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.
Human genetics 1992;88(3):320-4.
1992: F Bourgeois; X F Gu; Jean-Charles Deybach; M P Te Velde; Felix W M de Rooij; Yves Nordmann; Bernard Grandchamp
Denaturing gradient gel electrophoresis for rapid detection of latent carriers of a subtype of acute intermittent porphyria with normal erythrocyte porphobilinogen deaminase activity.
Clinical chemistry 1992;38(1):93-5.
1991: Jérôme Lamoril; S Boulechfar; Hubert de Verneuil; Bernard Grandchamp; Yves Nordmann; Jean-Charles Deybach
Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene.
Biochemical and biophysical research communications 1991;181(2):594-9.
1991: M H Delfau; C Picat; Felix W M de Rooij; G Voortman; Jean-Charles Deybach; Yves Nordmann; Bernard Grandchamp
Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease.
American journal of human genetics 1991;49(2):421-8.
1991: L D'Alessandro Gandolfo; A Macri; Gianfranco Biolcati; Daniela Griso; L N Phung; Jean-Charles Deybach; V Da Silva; Yves Nordmann; G C Topi
Homozygous variegate porphyria: revision of a diagnostic error.
The British journal of dermatology 1991;124(2):211.
1991: Yves Nordmann; Jean-Charles Deybach; Hubert de Verneuil; S Boulechfar; Bernard Grandchamp
Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Günther's disease).
Current problems in dermatology 1991;20():148-53.
1990: Yves Nordmann; H de Verneuil; Jean-Charles Deybach; M H Delfau; Bernard Grandchamp
Molecular genetics of porphyrias.
Annals of medicine 1990;22(6):387-91.
1990: M H Delfau; C Picat; Felix W M de Rooij; K Hamer; M Bogard; J H Wilson; Jean-Charles Deybach; Yves Nordmann; Bernard Grandchamp
Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria.
The Journal of clinical investigation 1990;86(5):1511-6.
1990: Jean-Charles Deybach; Hubert de Verneuil; S Boulechfar; Bernard Grandchamp; Yves Nordmann
Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Günther's disease).
Blood 1990;75(9):1763-5.
1990: Yves Nordmann; D Amram; Jean-Charles Deybach; L N Phung; D Lesbros
Coexistent hereditary coproporphyria and congenital erythropoietic porphyria (Günther disease).
Journal of inherited metabolic disease 1990;13(5):687-91.
1990: C Picat; M H Delfau; Felix W M de Rooij; G J Beukeveld; BG Wolthers; S K Wadman; Yves Nordmann; Bernard Grandchamp
Identification of the mutations in the parents of a patient with a putative compound heterozygosity for acute intermittent porphyria.
Journal of inherited metabolic disease 1990;13(5):684-6.
1990: G J Beukeveld; BG Wolthers; Yves Nordmann; J C Deybach; Bernard Grandchamp; S K Wadman
A retrospective study of a patient with homozygous form of acute intermittent porphyria.
Journal of inherited metabolic disease 1990;13(5):673-83.
1989: Bernard Grandchamp; C Picat; R Kauppinen; V Mignotte; L Peltonen; P Mustajoki; Paul-Henri Roméo; Michel Goossens; Yves Nordmann
Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase.
European journal of clinical investigation 1989;19(5):415-8.
1989: C Beaumont; C Porcher; C Picat; Yves Nordmann; Bernard Grandchamp
The mouse porphobilinogen deaminase gene. Structural organization, sequence, and transcriptional analysis.
The Journal of biological chemistry 1989;264(25):14829-34.
1989: Bernard Grandchamp; C Picat; Felix W M de Rooij; C Beaumont; P Wilson; Jean-Charles Deybach; Yves Nordmann
A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria.
Nucleic acids research 1989;17(16):6637-49.
1989: M Bogard; Jean-Michel CAMADRO; Yves Nordmann; P Labbe
Purification and properties of mouse liver coproporphyrinogen oxidase.
European journal of biochemistry / FEBS 1989;181(2):417-21.
1989: Bernard Grandchamp; C Picat; V Mignotte; J H Wilson; K Te Velde; L Sandkuyl; Paul-Henri Roméo; Michel Goossens; Yves Nordmann
Tissue-specific splicing mutation in acute intermittent porphyria.
Proceedings of the National Academy of Sciences of the United States of America 1989;86(2):661-4.
1988: Bernard Grandchamp; Yves Nordmann
Enzymes of the heme biosynthesis pathway: recent advances in molecular genetics.
Seminars in hematology 1988;25(4):303-11.
1988: H de Verneuil; J Hansen; C Picat; Bernard Grandchamp; James P Kushner; A Roberts; G Elder; Yves Nordmann
Prevalence of the 281 (Gly----Glu) mutation in hepatoerythropoietic porphyria and porphyria cutanea tarda.
Human genetics 1988;78(1):101-2.
1987: David H Llewellyn; George H Elder; Noor Kalsheker; O W Marsh; P R Harrison; B Grandchamp; C Picat; Yves Nordmann; P H Romeo; M Goossens
DNA polymorphism of human porphobilinogen deaminase gene in acute intermittent porphyria.
Lancet 1987;2(8561):706-8.
1987: J F Devars du Mayne; J C Deybach; Yves Nordmann; J M Lesouef; M Garret; M Cerf
[Rhabdomyolysis in acute intermittent porphyria].
Presse médicale (Paris, France : 1983) 1987;16(6):310.
1987: Jean-Charles Deybach; V Da Silva; L N Phung; J C Levy; Yves Nordmann
[Drug risk of hepatic porphyria. Development of an animal experiment model].
Presse médicale (Paris, France : 1983) 1987;16(2):68-71.
1986: H de Verneuil; Bernard Grandchamp; C Beaumont; C Picat; Yves Nordmann
Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria.
Science (New York, N.Y.) 1986;234(4777):732-4.
1986: J F Devars du Mayne; J C Deybach; L Phung; J Likforman; R Tenhunen; M Cerf; Yves Nordmann
[Acute attacks of hepatic porphyria. Treatment with hematin. 5 cases].
Presse médicale (Paris, France : 1983) 1986;15(33):1673-6.
1984: J F Devars du Mayne; C Prevost; B Gaudin; M Languille; M Cerf; Yves Nordmann
[Lead poisoning treated with 2,3-dimercaptosuccinic acid].
Presse médicale (Paris, France : 1983) 1984;13(36):2209.