Bahuau, M: search on Z-Library

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1

Compound SFTPB 1549C→GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiency

Mohammed Tredano, Ruurd M. van Elburg, Ageeth G. Kaspers, Luc J. Zimmermann, Claude Houdayer, Pierre Aymard, William M. Hull, Jeffrey A. Whitsett, Jacques Elion, Matthias Griese, Michel Bahuau

Journal:

Year:

1999

Language:

english

File:

PDF, 337 KB

english, 1999

2

Practical approach for characterization of glucose 6-phosphate dehydrogenase (G6PD) deficiency in countries with population ethnically heterogeneous: Description of seven new G6PD mutants

Kamran Moradkhani, Chadia Mekki, Michel Bahuau, Valerie Li Thiao Te, Muriel Holder, Serge Pissard, Claude Préhu, Christian Rose, Henri Wajcman, Frédéric Galactéros

Journal:

American Journal of Hematology

Year:

2012

Language:

english

File:

PDF, 2.25 MB

english, 2012

3

Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease

Mohammed Tredano, Matthias Griese, Frank Brasch, Silja Schumacher, Jacques de Blic, Stéphanie Marque, Claude Houdayer, Jacques Elion, Rémy Couderc, Michel Bahuau

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 271 KB

english, 2004

4

Pulmonale Alveolarproteinosen Molekulare Grundlagen und Konsequenzen für Diagnostik und Therapie

M. Griese, M. Tredano, M. Bahuau

Journal:

Monatsschrift Kinderheilkunde

Year:

2001

Language:

german

File:

PDF, 319 KB

german, 2001

5

Les défensines en physiopathologie humaine

L. Jonard, L. Banh, M. Pressac, J. Just, M. Bahuau

Journal:

Immuno-analyse & Biologie Spécialisée

Year:

2006

Language:

french

File:

PDF, 633 KB

french, 2006

6

Neonatal screening for sickle cell disease in France

Bardakdjian-Michau, J, Bahuau, M, Hurtrel, D, Godart, C, Riou, J, Mathis, M, Goossens, M

Journal:

Journal of Clinical Pathology

Year:

2009

Language:

english

File:

PDF, 484 KB

english, 2009

7

Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association

Bahuau, Michel, Flintoff, Wayne, Assouline, Brigitte, Lyonnet, Stanislas, Le Merrer, Martine, Prieur, Marguerite, Guilloud-Bataille, Michel, Feingold, Nicole, Munnich, Arnold, Vidaud, Michel, Vidaud,

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 807 KB

english, 1996

8

Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome

Bahuau, Michel, Houdayer, Claude, Assouline, Brigitte, Blanchet-Bardon, Claudine, Le Merrer, Martine, Lyonnet, Stanislas, Giraud, Sophie, R�can, Dominique, Lakhdar, Hakima, Vidaud, Michel, Vidaud, Dom

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 265 KB

english, 1998

9

1q32-q41 microdeletion with reference to van der Woude syndrome and allied clefting entities

Houdayer, Claude, Soupre, V�ronique, Karcenty, Bruno, Vazquez, Marie-Paule, Odent, Sylvie, Lacombe, Didier, Le Bouc, Yves, Munnich, Arnold, Bahuau, Michel

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 80 KB

english, 2000

10

Possible relationship between the van der Woude syndrome (vWS) locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P)

Claude Houdayer, Catherine Bonaïti-Pellié, Caroline Erguy, Véronique Soupre, Marie-Gabrielle Dondon, Lydie Bürglen, Emmanuel Cougoureux, Rémy Couderc, Marie-Paule Vazquez, Michel Bahuau

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 203 KB

english, 2001

11

No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome families

Wayne F. Flintoff, Michel Bahuau, Stanislas Lyonnet, Simone Gilgenkrantz, Didier Lacombe, François Marçon, Jacqueline Levilliers, Jean Kachaner, Arnold Munnich, Martine Le Merrer

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 497 KB

english, 1993

12

Pierre Robin sequence and interstitial deletion 2q32.3-q33.2

Claude Houdayer, Marie-France Portnoï, François Vialard, Véronique Soupre, Cécile Crumière, Jean-Louis Taillemite, Rémy Couderc, Marie-Paule Vazquez, Michel Bahuau

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 714 KB

english, 2001

13

Fetal and maternal MTHFR C677T genotype, maternal folate intake and the risk of nonsyndromic oral clefts

Cécile Chevrier, Claire Perret, Michel Bahuau, Huiping Zhu, Agnès Nelva, Christine Herman, Christine Francannet, Elisabeth Robert-Gnansia, Richard H. Finnell, Sylvaine Cordier

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 130 KB

english, 2007

14

Fetal and maternal CYP2E1 genotypes and the risk of nonsyndromic oral clefts

Cécile Chevrier, Claire Perret, Michel Bahuau, Agnès Nelva, Christine Herman, Christine Francannet, Elisabeth Robert-Gnansia, Sylvaine Cordier

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 82 KB

english, 2007

15

Genetic susceptibilities in the association between maternal exposure to tobacco smoke and the risk of nonsyndromic oral cleft

Cécile Chevrier, Michel Bahuau, Claire Perret, David M. Iovannisci, Agnès Nelva, Christine Herman, Marie-Paule Vazquez, Christine Francannet, Elisabeth Robert-Gnansia, Edward J. Lammer, Sylvaine Cordi

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 112 KB

english, 2008

16

Interaction between the ADH1C polymorphism and maternal alcohol intake in the risk of nonsyndromic oral clefts: An evaluation of the contribution of child and maternal genotypes

Cécile Chevrier, Claire Perret, Michel Bahuau, Agnès Nelva, Christine Herman, Christine Francannet, Elisabeth Robert-Gnansia, Sylvaine Cordier

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2005

Language:

english

File:

PDF, 117 KB

english, 2005

17

Interstitial pneumonia and pulmonary alveolar proteinosis in a full-term baby with a de novo heterozygote SFTPC mutation

F. Brasch, M. Griese, M. Tredano, G. Johnen, M. Ochs, T. Nicolai, C. Rieger, S. Hawgood, S. Mulugeta, K.M. Müller, M. Bahuau, M.F. Beers

Journal:

Pathology - Research and Practice

Year:

2004

Language:

english

File:

PDF, 132 KB

english, 2004

18

FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate

M Bahuau, C Houdayer, M Tredano, V Soupre, R Couderc, M-P Vazquez

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 235 KB

english, 2002

19

Genetics of nonsyndromic cleft lip with or without cleft palate: is there a Mendelian sub-entity?

Vincent Gajdos, Michel Bahuau, Elisabeth Robert-Gnansia, Christine Francannet, Sylvaine Cordier, Catherine Bonaïti-Pellié

Journal:

Annales de Génétique

Year:

2004

Language:

english

File:

PDF, 134 KB

english, 2004

20

A rare G6PD variant (c.383T > G; p.128Leu > Arg) with a molecular pathophysiological mechanism similar to that of G6PD A− (68Val > Met, 126Asn > Asp)

Kamran Moradkhani, Michel Bahuau, Claude Préhu, Natacha Martin, Catherine Bimet, Frederic Galactéros, Henri Wajcman

Journal:

Blood Cells, Molecules, and Diseases

Year:

2009

Language:

english

File:

PDF, 558 KB

english, 2009

21

Expression profiles of hydrophobic surfactant proteins in children with diffuse chronic lung disease

Matthias Griese, Silja Schumacher, Mohammed Tredano, Manuela Steinecker, Annika Braun, Susan Guttentag, Michael F Beers, Michel Bahuau

Journal:

Respiratory Research

Year:

2005

Language:

english

File:

PDF, 1.09 MB

english, 2005

22

Intolérance musculaire à l’effort par déficit en phosphofructokinase : apport au diagnostic du bilan métabolique musculaire (tests d’effort, spectroscopie RMN au p31)

Drouet, Alain, Zagnoli, Fabien, Piraud, Monique, Streichenberger, Nathalie, Petit, François, Bahuau, Michel, Vital Durand, Denis

Journal:

Revue Neurologique

Year:

2012

Language:

french

File:

PDF, 65 KB

french, 2012

23

Folates en période péri-conceptionnelle et prévention du risque de fente orofaciale : rôle des apports alimentaires en France

Rouget, F., Monfort, C., Bahuau, M., Nelva, A., Herman, C., Francannet, C., Robert-Gnansia, E., Cordier, S.

Journal:

Revue d'Épidémiologie et de Santé Publique

Year:

2005

File:

PDF, 82 KB

2005

24

P20 - Exposition maternelle aux solvants et risque de fentes orales

Chevrier, C., Dananche, B., Bahuau, M., Francannet, C., Robert-Gnansia, E., Perret, C., Lammer, E., Cordier, S.

Journal:

Revue d'Épidémiologie et de Santé Publique

Year:

2005

Language:

french

File:

PDF, 41 KB

french, 2005

25

Intolérance musculaire à l’effort par déficit en phosphofructokinase : apport au diagnostic du bilan métabolique musculaire (tests d’effort, spectroscopie RMN du P31)

Drouet, A., Zagnoli, F., Fassier, T., Rannou, F., Baverel, F., Piraud, M., Bahuau, M., Petit, F., Streichenberger, N., Marcorelles, P., Vital Durand, D.

Journal:

Revue Neurologique

Year:

2013

File:

PDF, 2.30 MB

2013

26

Simple Fluorescent PCR Assay for Discriminating FRAXA Fully Mutated Females from Normal Homozygotes

Houdayer, Claude, Lourdaux, Julie, Billette de Villemeur, Thierry, Royer-Legrain, Ghislaine, Bahuau, Michel, Bonnefont, Jean-Paul, Feldmann, Delphine, Couderc, Rémy

Journal:

Genetic Testing

Year:

2002

Language:

english

File:

PDF, 123 KB

english, 2002

27

GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype

Journal:

Journal of Medical Genetics

Year:

2001

Language:

english

File:

PDF, 1.25 MB

english, 2001

28

Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene

Brasch, F., Griese, M., Tredano, M., Johnen, G., Ochs, M., Rieger, C., Mulugeta, S., Muller, K.M., Bahuau, M., Beers, M.F.

Journal:

European Respiratory Journal

Year:

2004

Language:

english

File:

PDF, 527 KB

english, 2004

29

Tandem duplication within the neurofibromatosis type 1 gene (NF1) and reciprocal t(15;16)(q26.3;q12.1) translocation in familial association of NF1 with intestinal neuronal dysplasia type B (IND B)

Journal:

Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 593 KB

english, 2000

30

Clinical Biological and Genetic Heterogeneity of the Inborn Errors of Pulmonary Surfactant Metabolism

Tredano, Mohammed, Blic, Jacques de, Griese, Matthias, Fournet, Jean-Christophe, Elion, Jacques, Bahuau, Michel

Journal:

Clinical Chemistry and Laboratory Medicine

Year:

2001

Language:

english

File:

PDF, 317 KB

english, 2001

31

A Thermolabile Aldolase A Mutant Causes Fever-Induced Recurrent Rhabdomyolysis without Hemolytic Anemia

Mamoune, Asmaa, Bahuau, Michel, Hamel, Yamina, Serre, Valérie, Pelosi, Michele, Habarou, Florence, Nguyen Morel, Marie-Ange, Boisson, Bertrand, Vergnaud, Sabrina, Viou, Mai Thao, Nonnenmacher, Luc, Pi

Journal:

Year:

2014

Language:

english

File:

PDF, 704 KB

english, 2014

32

ORAL CLEFTS, MATERNAL EXPOSURE TO SOLVENTS AND CYP2E1 POLYMORPHISM

Chevrier, Cecile, Bahuau, Michel, Francannet, Christine, Robert-Gnansia, Elisabeth, Perret, Claire, Cordier, Sylvaine

Journal:

Year:

2004

Language:

english

File:

PDF, 96 KB

english, 2004

33

Occupational Exposure to Organic Solvent Mixtures during Pregnancy and the Risk of Non-Syndromic Oral Clefts

C. Chevrier, B. Dananché, M. Bahuau, A. Nelva, C. Herman, C. Francannet, E. Robert-Gnansia and S. Cordier

Journal:

Occupational and Environmental Medicine

Year:

2006

Language:

english

File:

PDF, 2.38 MB

english, 2006

34

Chronic hemolytic anemia due to novel -globin chain variants: critical location of the mutation within the gene sequence for a dominant effect

Prehu, C., Moradkhani, K., Riou, J., Bahuau, M., Launay, P., Martin, N., Wajcman, H., Goossens, M., Galacteros, F.

Journal:

Year:

2009

Language:

english

File:

PDF, 152 KB

english, 2009

35

In vitro infection of human macrophages with human T-cell leukemia virus type 1

de Revel, T, Mabondzo, A, Gras, G, Delord, B, Roques, P, Boussin, F, Neveux, Y, Bahuau, M, Fleury, HJ, Dormont, D

Journal:

Year:

1993

File:

PDF, 7.21 MB

1993

36

TaqMan PCR-based Gene Dosage Assay for Predictive Testing in Individuals from a Cancer Family with INK4 Locus Haploinsufficiency

Laurendeau, Ingrid, Bahuau, Michel, Vodovar, Nicolas, Larramendy, Claire, Olivi, Martine, Bieche, Ivan, Vidaud, Michel, Vidaud, Dominique

Journal:

Clinical Chemistry

Year:

1999

File:

PDF, 694 KB

1999

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