Imbard, I.: search on Z-Library

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1

NF1 Molecular Characterization and Neurofibromatosis Type I Genotype-Phenotype Correlation: The French Experience

Sabbagh, Audrey, Pasmant, Eric, Imbard, Apolline, Luscan, Armelle, Soares, Magali, Blanché, Hélène, Laurendeau, Ingrid, Ferkal, Salah, Vidaud, Michel, Pinson, Stéphane, Bellanné-Chantelot, Christine,

Journal:

Year:

2013

Language:

english

File:

PDF, 668 KB

english, 2013

2

New spastic paraplegia phenotype associated to mutation of NFU1

Tonduti, Davide, Dorboz, Imen, Imbard, Apolline, Slama, Abdelhamid, Boutron, Audrey, Pichard, Samia, Elmaleh, Monique, Vallée, Louis, Benoist, Jean, Ogier, Heléne, Boespflug-Tanguy, Odile

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 545 KB

english, 2015

3

High homocysteine induces betaine depletion

Imbard, A., Benoist, J.-F., Esse, R., Gupta, S., Lebon, S., de Vriese, A. S., de Baulny, H. O., Kruger, W., Schiff, M., Blom, H. J.

Journal:

Bioscience Reports

Year:

2015

Language:

english

File:

PDF, 1.00 MB

english, 2015

4

Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening

Bower, Alexandra, Imbard, Apolline, Benoist, Jean-François, Pichard, Samia, Rigal, Odile, Baud, Olivier, Schiff, Manuel

Journal:

Scientific Reports

Year:

2019

Language:

english

File:

PDF, 1.24 MB

english, 2019

5

Nitrous oxide and vitamin B12 in sickle cell disease: Not a laughing situation

Desprairies, Camille, Imbard, Apolline, Koehl, BÃ©rengÃ¨re, Lorrot, Mathie, Gaschignard, Jean, Sommet, Julie, Pichard, Samia, Holvoet, Laurent, Faye, Albert, Benkerrou, Malika, Benoist, Jean-FranÃ§ois

Journal:

Molecular Genetics and Metabolism Reports

Year:

2020

Language:

english

File:

PDF, 338 KB

english, 2020

6

Application of a long range transport model to a mount Etna plume

D. Martin, J. P. Granier, M. Imbard, B. Strauss

Journal:

Bulletin of Volcanology

Year:

1984

Language:

english

File:

PDF, 568 KB

english, 1984

7

Climatology of forward trajectories of Mt. Etna plume over a 18-year period

D. Martin, D. Cheymol, M. Imbard, B. Strauss

Journal:

Bulletin of Volcanology

Year:

1984

Language:

english

File:

PDF, 553 KB

english, 1984

8

Call-handlers’ working conditions and their subjective experience of work: a transversal study

Sophie Croidieu, Barbara Charbotel, Michel Vohito, Liliane Renaud, Joelle Jaussaud, Christian Bourboul, Dominique Ardiet, Isabelle Imbard, Anne Céline Guerin, Alain Bergeret

Journal:

International Archives of Occupational and Environmental Health

Year:

2008

Language:

english

File:

PDF, 435 KB

english, 2008

9

Working conditions in call-centers, the impact on employee health: a transversal study. Part II

Barbara Charbotel, Sophie Croidieu, Michel Vohito, Anne-Céline Guerin, Liliane Renaud, Joelle Jaussaud, Christian Bourboul, Isabelle Imbard, Dominique Ardiet, Alain Bergeret

Journal:

International Archives of Occupational and Environmental Health

Year:

2009

Language:

english

File:

PDF, 368 KB

english, 2009

10

Measurement of free and total sialic acid by isotopic dilution liquid chromatography tandem mass spectrometry method

Abdellah Tebani, Dimitri Schlemmer, Apolline Imbard, Odile Rigal, Dominique Porquet, Jean-François Benoist

Journal:

Journal of Chromatography B

Year:

2011

Language:

english

File:

PDF, 521 KB

english, 2011

11

Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein

A. Imbard, A. Boutron, C. Vequaud, M. Zater, P. de Lonlay, H. Ogier de Baulny, C. Barnerias, M. Miné, C. Marsac, J.-M. Saudubray, M. Brivet

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 868 KB

english, 2011

12

Role of non-linear oceanic processes in the response to westerly wind events: New implications for the 1997 El Niño onset

Boulanger, J.-P., Durand, E., Duvel, J.-P., Menkes, C., Delecluse, P., Imbard, M., Lengaigne, M., Madec, G., Masson, S.

Journal:

Geophysical Research Letters

Year:

2001

Language:

english

File:

PDF, 589 KB

english, 2001

13

An eddy-permitting model of the Atlantic circulation: Evaluating open boundary conditions

Treguier, A. M., Barnier, B., de Miranda, A. P., Molines, J. M., Grima, N., Imbard, M., Madec, G., Messager, C., Reynaud, T., Michel, S.

Journal:

Journal of Geophysical Research

Year:

2001

Language:

english

File:

PDF, 2.37 MB

english, 2001

14

A global ocean mesh to overcome the North Pole singularity

Gurvan Madec, Maurice Imbard

Journal:

Climate Dynamics

Year:

1996

Language:

english

File:

PDF, 457 KB

english, 1996

15

Global protein and histone arginine methylation are affected in a tissue-specific manner in a rat model of diet-induced hyperhomocysteinemia

Esse, Ruben, Florindo, Cristina, Imbard, Apolline, Rocha, Mónica S., de Vriese, An S., Smulders, Yvo M., Teerlink, Tom, Tavares de Almeida, Isabel, Castro, Rita, Blom, Henk J.

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2013

Language:

english

File:

PDF, 562 KB

english, 2013

16

Body composition in patients with classical homocystinuria: body mass relates to homocysteine and choline metabolism

Poloni, Soraia, Leistner-Segal, Sandra, Bandeira, Isabel Cristina, D'Almeida, Vânia, de Souza, Carolina Fischinger Moura, Spritzer, Poli Mara, Castro, Kamila, Tonon, Tássia, Nalin, Tatiéle, Imbard, Ap

Journal:

Year:

2014

Language:

english

File:

PDF, 375 KB

english, 2014

17

Intérêt du GHQ-12 pour étudier la santé des salariés travaillant dans des centres d’appels téléphoniques

Leydier, S., Charbotel, B., Ardiet, D., Bourboul, C., Imbard, I., Jaussaud, J., Renaud, L., Vohito, M., Bergeret, A.

Journal:

Archives des Maladies Professionnelles et de l'Environnement

Year:

2006

Language:

french

File:

PDF, 84 KB

french, 2006

18

Maternal and fetal tyrosinemia type I

Garcia Segarra, N., Roche, S., Imbard, A., Benoist, J. F., Grenèche, M. O., Davit-Spraul, A., Ogier de Baulny, H.

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 177 KB

english, 2010

19

SFP CO-07 - Trop de MEOPA : pas si hilarant

Desprairies, C., Benkerrou, M., Imbard, A., Pichard, S., Lorrot, M., Gaumetou, E., Melki, I., Pharaon, I., Sauvé Martin, H., Holvoet, L., Ithier, G., Missud, F., Benoist, J.F., Schiff, M.

Journal:

Archives de Pédiatrie

Year:

2014

Language:

french

File:

PDF, 34 KB

french, 2014

20

Plasma choline and betaine correlate with serum folate, plasma S-adenosyl-methionine and S-adenosyl-homocysteine in healthy volunteers

Imbard, Apolline, Smulders, Yvo M., Barto, Rob, Smith, Desiree E.C., Kok, Robert M., Jakobs, Cornelis, Blom, Henk J.

Journal:

Clinical Chemistry and Laboratory Medicine

Year:

2013

Language:

english

File:

PDF, 391 KB

english, 2013

21

Protein arginine hypomethylation in a mouse model of cystathionine -synthase deficiency

Esse, R., Imbard, A., Florindo, C., Gupta, S., Quinlivan, E. P., Davids, M., Teerlink, T., Tavares de Almeida, I., Kruger, W. D., Blom, H. J., Castro, R.

Journal:

The FASEB Journal

Year:

2014

Language:

english

File:

PDF, 165 KB

english, 2014

22

Methylation metabolites in amniotic fluid depend on gestational age

Imbard, Apolline, Blom, Henk J., Schlemmer, Dimitri, Barto, Rob, Czerkiewicz, Isabelle, Rigal, Odile, Muller, Françoise, Benoist, Jean-François

Journal:

Prenatal Diagnosis

Year:

2013

Language:

english

File:

PDF, 612 KB

english, 2013

23

NF1 single and multi-exons copy number variations in neurofibromatosis type 1

Imbard, Apolline, Pasmant, Eric, Sabbagh, Audrey, Luscan, Armelle, Soares, Magali, Goussard, Philippe, Blanché, Hélène, Laurendeau, Ingrid, Ferkal, Salah, Vidaud, Michel, Pinson, Stéphane, Bellanne-Ch

Journal:

Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 239 KB

english, 2015

24

Antenatal Biochemical Expression of Cystinuria and Relation to Fetal Hyperechogenic Colon

Benoist, J.-F., Imbard, A., Dreux, S., Garel, C., Haddad, G., Hoffet, M., Biou, D., Muller, F.

Journal:

Clinical Chemistry

Year:

2006

Language:

english

File:

PDF, 476 KB

english, 2006

25

Phosphoethanolamine normal range in pediatric urines for hypophosphatasia screening

Imbard, Apolline, Alberti, Corinne, Armoogum-Boizeau, Priscilla, Ottolenghi, Chris, Josserand, Emilie, Rigal, Odile, Benoist, Jean-François

Journal:

Clinical Chemistry and Laboratory Medicine

Year:

2012

Language:

english

File:

PDF, 249 KB

english, 2012

26

Neural Tube Defects, Folic Acid and Methylation

Imbard, Apolline, Benoist, Jean-François, Blom, Henk

Journal:

International Journal of Environmental Research and Public Health

Year:

2013

Language:

english

File:

PDF, 802 KB

english, 2013

27

Neurocognitive profiles in MSUD school-age patients

Bouchereau, Juliette, Leduc-Leballeur, Julie, Pichard, Samia, Imbard, Apolline, Benoist, Jean-François, Abi Warde, Marie-Thérèse, Arnoux, Jean-Baptiste, Barbier, Valérie, Brassier, Anaïs, Broué, Pierr

Journal:

Journal of Inherited Metabolic Disease

Year:

2017

Language:

english

File:

PDF, 291 KB

english, 2017

28

Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy

Deschamps, Romain, Savatovsky, Julien, Vignal, Catherine, Fisselier, Matthieu, Imbard, Apolline, Wolf, Barry, Procter, Melinda, Gout, Olivier

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2017

Language:

english

File:

PDF, 546 KB

english, 2017

29

Long-term liver disease in methylmalonic and propionic acidemias

Imbard, Apolline, Garcia Segarra, Nuria, Tardieu, Marine, Broué, Pierre, Bouchereau, Juliette, Pichard, Samia, de Baulny, Hélène Ogier, Slama, Abdelhamid, Mussini, Charlotte, Touati, Guy, Danjoux, Mar

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 1004 KB

english, 2018

30

The PERIDOT Fine-Mesh Numerical Weather Prediction System Description, Evaluation and Experiments

Imbard, M., Juvanon du Vachat, R., Joly, A., Durand, Y., Geleyn, A. Craplet J. F., Geleyn, J. F., Audoin, J. M., Marie, N., Pairin, J. M.

Journal:

Journal of the Meteorological Society of Japan

Year:

1986

Language:

english

File:

PDF, 16.84 MB

english, 1986

31

SLC13A3 variants cause acute reversible leukoencephalopathy and αKG accumulation

Dewulf, Joseph P., Wiame, Elsa, Dorboz, Imen, Elmaleh-Bergès, Monique, Imbard, Apolline, Dumitriu, Dana, Rak, Malgorzata, Bourillon, Agnès, Helaers, Raphaël, Malla, Alisha, Renaldo, Florence, Boespflu

Journal:

Annals of Neurology

Year:

2019

Language:

english

File:

PDF, 1.05 MB

english, 2019

32

Circulating coenzyme Q10 (COQ10) in patients with inborn error of metabolism treated by low protein diet

Chtourou, M., Imbard, A., Rigal, O., Benoist, J.F.

Journal:

Clinica Chimica Acta

Year:

2019

Language:

english

File:

PDF, 216 KB

english, 2019

33

AICA âribosiduria due to ATIC deficiency: delineation of the phenotype with three novel cases, and longâterm update on the first case

Ramond, Francis, Rio, MarlÃ¨ne, HÃ©ron, BÃ©nÃ©dicte, Imbard, Apolline, Marie, Sandrine, Billemaz, Kareen, DenommÃ©âPichon, AnneâSophie, Kuentz, Paul, Ceballos, IrÃ¨ne, Piraud, Monique, Vincent, Ma

Journal:

Journal of Inherited Metabolic Disease

Year:

2020

File:

PDF, 2.41 MB

2020