Coutton, C. : rechercher sur Z-Library

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1

Rapid Proteomic Profiling by MALDI -TOF Mass Spectrometry for Better Brain Tumor Classification

Petre, Graciane, Durand, Harmonie, Pelletier, Laurent, Poulenard, Margot, Nugue, Guillaume, Ray, Pierre F, Rendu, John, Coutton, Charles, Berger, Francois, Bidart, Marie

Journal:

PROTEOMICS - Clinical Applications

Année:

2020

Langue:

english

Fichier:

PDF, 952 KB

english, 2020

2

Creation of knock out and knock in mice by CRISPR/Cas9 to validate candidate genes for human male infertility, interest, difficulties and feasibility

Kherraf, Zine-Eddine, Conne, Beatrice, Amiri-Yekta, Amir, Kent, Marie Christou, Coutton, Charles, Escoffier, Jessica, Nef, Serge, Arnoult, Christophe, Ray, Pierre F.

Journal:

Molecular and Cellular Endocrinology

Année:

2018

Langue:

english

Fichier:

PDF, 947 KB

english, 2018

3

Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW binding protein PAWP

Escoffier, Jessica, Lee, Hoi Chang, Yassine, Sandra, Zouari, Raoudha, Martinez, Guillaume, Karaouzène, Thomas, Coutton, Charles, Kherraf, Zine-eddine, Halouani, Lazhar, Triki, Chema, Nef, Serge, Thier

Journal:

Human Molecular Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 1.20 MB

english, 2015

4

Is sperm FISH analysis still useful for Robertsonian translocations? Meiotic analysis for 23 patients and review of the literature

Lamotte, Anna, Martinez, Guillaume, Devillard, Françoise, Hograindleur, Jean-Pascal, Satre, Véronique, Coutton, Charles, Harbuz, Radu, Amblard, Florence, Lespinasse, James, Benchaib, Mehdi, Bessonnat,

Journal:

Basic and Clinical Andrology

Année:

2018

Fichier:

PDF, 751 KB

2018

5

Genetics of teratozoospermia: back to the head

Beurois, Julie, Cazin, Caroline, Kherraf, Zine-Eddine, Martinez, Guillaume, Celse, Tristan, TourÃ©, Aminata, Arnoult, Christophe, Ray, Pierre F., Coutton, Charles

Journal:

Best Practice & Research Clinical Endocrinology & Metabolism

Année:

2020

Fichier:

PDF, 9.77 MB

2020

6

From lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes

Haifa Hichri, John Rendu, Nicole Monnier, Charles Coutton, Olivier Dorseuil, Rosa Vargas Poussou, Geneviève Baujat, Anne Blanchard, François Nobili, Bruno Ranchin, Michel Remesy, Rémi Salomon, Véroniq

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 320 KB

english, 2011

7

Development of a multiplex ligation-dependent probe amplification (MLPA) assay for quantification of the OCRL1 gene

Charles Coutton, Nicole Monnier, John Rendu, Joël Lunardi

Journal:

Clinical Biochemistry

Année:

2010

Langue:

english

Fichier:

PDF, 525 KB

english, 2010

8

Rare Duplication or Deletion of Exons 6, 7 and 8 inCYBBLeading to X-Linked Chronic Granulomatous Disease in Two Patients from Different Families

Stasia, Marie José, Leeuwen, Karin, Boer, Martin, Martel, Cecile, Mollin, Michele, Thuret, Isabelle, Michel, Gerard, Hanson, Celine, Augustine, Nancy H., Coutton, Charles, Satre, Véronique, Wittwer, C

Journal:

Journal of Clinical Immunology

Année:

2012

Langue:

english

Fichier:

PDF, 460 KB

english, 2012

9

A Recurrent Deletion of DPY19L2 Causes Infertility in Man by Blocking Sperm Head Elongation and Acrosome Formation

Radu Harbuz, Raoudha Zouari, Virginie Pierre, Mariem Ben Khelifa, Mahmoud Kharouf, Charles Coutton, Ghaya Merdassi, Farid Abada, Jessica Escoffier, Yorgos Nikas, François Vialard, Isabelle Koscinski,

Journal:

The American Journal of Human Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 1.80 MB

english, 2011

10

In vitro study of Seraspenide on HIV-induced inhibition of granulopoiesis

C. Coutton, J. C. Chermann

Journal:

European Journal of Haematology

Année:

1997

Langue:

english

Fichier:

PDF, 767 KB

english, 1997

11

17p13.1 microduplication in a boy with Silver–Russell syndrome features and intellectual disability

Charles Coutton, Francoise Devillard, Gaëlle Vieville, Florence Amblard, Gipsy Lopez, Pierre-Simon Jouk, Véronique Satre

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 853 KB

english, 2012

12

The role of edge lines in curve driving

Cécile Coutton-Jean, Daniel R. Mestre, Cédric Goulon, Reinoud J. Bootsma

Journal:

Transportation Research Part F: Traffic Psychology and Behaviour

Année:

2009

Langue:

english

Fichier:

PDF, 454 KB

english, 2009

13

Rationale for a vaccine using cellular-derived epitope presented by HIV isolates

Pascale Galéa, Carole le Contel, Christine Coutton, Jean-Claude Chermann

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 476 KB

english, 1999

14

Intellectual disability, oncogenes and tumour suppressor genes: the way forward?

BIDART, M., COUTTON, C.

Journal:

Journal of Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 369 KB

english, 2012

15

Multiplex Ligation-dependent Probe Amplification (MLPA) et sondes « à façon » entièrement synthétiques. Guide pratique, recommandations et expérience au CHU de Grenoble

C. Coutton, G. Vieville, V. Satre, F. Devillard, F. Amblard

Journal:

Année:

2012

Langue:

french

Fichier:

PDF, 959 KB

french, 2012

16

Fine Characterisation of a Recombination Hotspot at the DPY19L2 Locus and Resolution of the Paradoxical Excess of Duplications over Deletions in the General Population

Coutton, Charles, Abada, Farid, Karaouzene, Thomas, Sanlaville, Damien, Satre, Véronique, Lunardi, Joël, Jouk, Pierre-Simon, Arnoult, Christophe, Thierry-Mieg, Nicolas, Ray, Pierre F., Spinner, Nancy

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 1.06 MB

english, 2013

17

Comparative testicular transcriptome of wild type and globozoospermicDpy19l2knock out mice

Karaouzène, Thomas, El Atifi, Michèle, Issartel, Jean-Paul, Grepillat, Marianne, Coutton, Charles, Martinez, Delphine, Arnoult, Christophe, Ray, Pierre F

Journal:

Année:

2013

Fichier:

PDF, 631 KB

2013

18

Absence of Dpy19l2, a new inner nuclear membrane protein, causes globozoospermia in mice by preventing the anchoring of the acrosome to the nucleus

Pierre, V., Martinez, G., Coutton, C., Delaroche, J., Yassine, S., Novella, C., Pernet-Gallay, K., Hennebicq, S., Ray, P. F., Arnoult, C.

Journal:

Development (The Company of Biologists)

Année:

2012

Langue:

english

Fichier:

PDF, 3.35 MB

english, 2012

19

Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella

Ben Khelifa, Mariem, Coutton, Charles, Zouari, Raoudha, Karaouzène, Thomas, Rendu, John, Bidart, Marie, Yassine, Sandra, Pierre, Virginie, Delaroche, Julie, Hennebicq, Sylviane, Grunwald, Didier, Esca

Journal:

The American Journal of Human Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 1.21 MB

english, 2014

20

Les coûts de prise en charge des personnes âgées dépendantes cognitives: un exemple avec le dispositif de l’APA

Journal:

NPG Neurologie - Psychiatrie - Gériatrie

Année:

2006

Langue:

french

Fichier:

PDF, 277 KB

french, 2006

21

Prévalence et caractéristiques étiologiques des enfants avec déficience intellectuelle légère dans le département de l’Isère

Devillard, F., David, M., Dieterich, K., Coutton, C., Satre, V., Amblard, F., Vieville, G., Counillon, J., Billette De Villemeur, A., Cans, C., Jouk, P.-S.

Journal:

Archives de Pédiatrie

Année:

2013

Langue:

french

Fichier:

PDF, 54 KB

french, 2013

22

Characterization of the 9L gliosarcoma implanted in the Fischer rat: an orthotopic model for a grade IV brain tumor

Bouchet, Audrey, Bidart, Marie, Miladi, Imen, Clec’h, Céline, Serduc, Raphaël, Coutton, Charles, Regnard, Pierrick, Khalil, Enam, Dufort, Sandrine, Lemasson, Benjamin, Laissue, Jean, Pelletier, Lauren

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 8.09 MB

english, 2014

23

7p22.3 microdeletion disrupting SNX8 in a patient presenting with intellectual disability but no tetralogy of Fallot

Rendu, John, Satre, Véronique, Testard, Hervé, Devillard, Francoise, Vieville, Gaëlle, Fauré, Julien, Amblard, Florence, Jouk, Pierre-Simon, Coutton, Charles

Journal:

American Journal of Medical Genetics Part A

Année:

2014

Langue:

english

Fichier:

PDF, 133 KB

english, 2014

24

Dpy19l2-deficient globozoospermic sperm display altered genome packaging and DNA damage that compromises the initiation of embryo development

Yassine, S., Escoffier, J., Martinez, G., Coutton, C., Karaouzene, T., Zouari, R., Ravanat, J.-L., Metzler-Guillemain, C., Lee, H. C., Fissore, R., Hennebicq, S., Ray, P. F., Arnoult, C.

Journal:

Molecular Human Reproduction

Année:

2015

Langue:

english

Fichier:

PDF, 1.14 MB

english, 2015

25

Subcellular localization of phospholipase C in human sperm and its absence in DPY19L2-deficient sperm are consistent with its role in oocyte activation

Escoffier, J., Yassine, S., Lee, H. C., Martinez, G., Delaroche, J., Coutton, C., Karaouzene, T., Zouari, R., Metzler-Guillemain, C., Pernet-Gallay, K., Hennebicq, S., Ray, P. F., Fissore, R., Arnoult

Journal:

Molecular Human Reproduction

Année:

2015

Langue:

english

Fichier:

PDF, 713 KB

english, 2015

26

Optimized Generation of Functional Neutrophils and Macrophages from Patient-Specific Induced Pluripotent Stem Cells: Ex Vivo Models of X 0 -Linked, AR22 0 - and AR47 0 - Chronic Granulomatous Diseases

Brault, Julie, Goutagny, Erwan, Telugu, Narasimha, Shao, Kaifeng, Baquié, Mathurin, Satre, Véronique, Coutton, Charles, Grunwald, Didier, Brion, Jean-Paul, Barlogis, Vincent, Stephan, Jean-Louis, Plan

Journal:

BioResearch Open Access

Année:

2014

Langue:

english

Fichier:

PDF, 1.34 MB

english, 2014

27

Array-CGH in children with mild intellectual disability: a population-based study

Coutton, Charles, Dieterich, Klaus, Satre, Véronique, Vieville, Gaëlle, Amblard, Florence, David, Marie, Cans, Christine, Jouk, Pierre-Simon, Devillard, Francoise

Journal:

European Journal of Pediatrics

Année:

2015

Langue:

english

Fichier:

PDF, 442 KB

english, 2015

28

Maternal complex chromosomal rearrangement leads to TCF12 microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability

Le Tanno, Pauline, Poreau, Brice, Devillard, Francoise, Vieville, Gaëlle, Amblard, Florence, Jouk, Pierre-Simon, Satre, Véronique, Coutton, Charles

Journal:

American Journal of Medical Genetics Part A

Année:

2014

Langue:

english

Fichier:

PDF, 813 KB

english, 2014

29

190-kb duplication in 1p36.11 including PIGV and ARID1A genes in a girl with intellectual disability and hexadactyly

Coutton, C, Bidart, M, Rendu, J, Devillard, F, Vieville, G, Amblard, F, Lopez, G, Jouk, P-S, Satre, V

Journal:

Clinical Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 674 KB

english, 2013

30

Identification of a new recurrent Aurora kinase C mutation in both European and African men with macrozoospermia

Ben Khelifa, M., Coutton, C., Blum, M. G. B., Abada, F., Harbuz, R., Zouari, R., Guichet, A., May-Panloup, P., Mitchell, V., Rollet, J., Triki, C., Merdassi, G., Vialard, F., Koscinski, I., Viville, S

Journal:

Human Reproduction

Année:

2012

Langue:

english

Fichier:

PDF, 483 KB

english, 2012

31

Teratozoospermia: spotlight on the main genetic actors in the human

Coutton, C., Escoffier, J., Martinez, G., Arnoult, C., Ray, P. F.

Journal:

Human Reproduction Update

Année:

2015

Langue:

english

Fichier:

PDF, 951 KB

english, 2015

32

Interphase fluorescent in situ hybridization detection of the 7q11.23 chromosomal inversion in a clinical laboratory: automated versus manual scoring

Nadeau, Gwenaël, Coutton, Charles, Amblard, Florence, Michalowicz, Gabrielle, Frasca, Sylvie, Fertin, Arnold, Devillard, Françoise, Satre, Véronique, Usson, Yves, Jouk, Pierre-Simon

Journal:

Clinical Chemistry and Laboratory Medicine

Année:

2013

Langue:

english

Fichier:

PDF, 337 KB

english, 2013

33

BMP9 and BMP10 are necessary for proper closure of the ductus arteriosus

Levet, Sandrine, Ouarné, Marie, Ciais, Delphine, Coutton, Charles, Subileau, Mariela, Mallet, Christine, Ricard, Nicolas, Bidart, Marie, Debillon, Thierry, Faravelli, Francesca, Rooryck, Caroline, Fei

Journal:

Proceedings of the National Academy of Sciences

Année:

2015

Langue:

english

Fichier:

PDF, 2.53 MB

english, 2015

34

Functional and genetic characterization of two extremely rare cases of Williams–Beuren Syndrome associated with chronic granulomatous disease

Stasia, Marie J, Mollin, Michèle, Martel, Cécile, Satre, Véronique, Coutton, Charles, Amblard, Florence, Vieville, Gaëlle, van Montfrans, Joris M, Boelens, Jaap J, Veenstra-Knol, Hermine E, van Leeuwe

Journal:

European Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 1.25 MB

english, 2013

35

Symmetry Constraints Mediate the Learning and Transfer of Bimanual Coordination Patterns Across Planes of Motion

Temprado, J. J., Swinnen, S. P., Coutton-Jean, C., Salesse, R.

Journal:

Journal of Motor Behavior

Année:

2007

Langue:

english

Fichier:

PDF, 252 KB

english, 2007

36

MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia

Coutton, C., Zouari, R., Abada, F., Ben Khelifa, M., Merdassi, G., Triki, C., Escalier, D., Hesters, L., Mitchell, V., Levy, R., Sermondade, N., Boitrelle, F., Vialard, F., Satre, V., Hennebicq, S., J

Journal:

Human Reproduction

Année:

2012

Langue:

english

Fichier:

PDF, 488 KB

english, 2012

37

PROK1 Level in the Follicular Microenvironment: A New Noninvasive Predictive Biomarker of Embryo Implantation

Alfaidy, Nadia, Hoffmann, Pascale, Gillois, Pierre, Gueniffey, Aurore, Lebayle, Camille, Garçin, Héloïse, Thomas-Cadi, Claire, Bessonnat, Julien, Coutton, Charles, Villaret, Laure, Quenard, Nicole, Be

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2016

Langue:

english

Fichier:

PDF, 2.61 MB

english, 2016

38

Sun proteins and Dpy19l2 forming LINC-like links are critical for spermiogenesis

Ray, Pierre F., Coutton, Charles, Arnoult, Christophe

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 113 KB

english, 2016

39

Comprehensive investigation in patients affected by globozoospermia

Coutton, C., Arnoult, C., Ray, P. F.

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 77 KB

english, 2015

40

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11

Goldenberg, Alice, Riccardi, Florence, Tessier, Aude, Pfundt, Rolph, Busa, Tiffany, Cacciagli, Pierre, Capri, Yline, Coutton, Charles, Delahaye-Duriez, Andree, Frebourg, Thierry, Gatinois, Vincent, Gu

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 7.55 MB

english, 2016

41

Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations

Amiri-Yekta, Amir, Coutton, Charles, Kherraf, Zine-Eddine, Karaouzène, Thomas, Le Tanno, Pauline, Sanati, Mohammad Hossein, Sabbaghian, Marjan, Almadani, Navid, Sadighi Gilani, Mohammad Ali, Hosseini,

Journal:

Human Reproduction

Année:

2016

Langue:

english

Fichier:

PDF, 1.09 MB

english, 2016

42

Genetic abnormalities leading to qualitative defects of sperm morphology or function

Ray, Pierre F., Toure, Aminata, Metzler-Guillemain,, Mitchell, Michael J, Arnoult, Christophe, Coutton, Charles

Journal:

Clinical Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 1.93 MB

english, 2016

43

Single gene defects leading to sperm quantitative anomalies

Mitchell, Michael J, Metzler-Guillemain, Catherine, Aminata, Toure, Coutton, Charles, Arnoult, Christophe, Ray, Pierre F.

Journal:

Clinical Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 1.07 MB

english, 2016

44

Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe syndrome

Rendu, John, Montjean, Rodrick, Coutton, Charles, Suri, Suri Mohnish, Chicanne, Gaetan, Petiot, Petiot Anne, Brocard, Julie, Grunwald, Didier, Rouxel, France Pietri, Payrastre, Bernard, Lunardi, Joel,

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 1.44 MB

english, 2016

45

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

Mattioli, Francesca, Schaefer, Elise, Magee, Alex, Mark, Paul, Mancini, Grazia M., Dieterich, Klaus, Von Allmen, Gretchen, Alders, Marielle, Coutton, Charles, van Slegtenhorst, Marjon, Vieville, Gaëll

Journal:

The American Journal of Human Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 1.71 MB

english, 2017

46

Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review

Maini, Ilenia, Ivanovski, Ivan, Iodice, Alessandro, Rosato, Simonetta, Pollazzon, Marzia, Mussini, Manuela, Belligni, Elga F., Coutton, Charles, Marinelli, Maria, Barbieri, Veronica, Napoli, Manuela,

Journal:

Molecular Syndromology

Année:

2016

Langue:

english

Fichier:

PDF, 842 KB

english, 2016

47

Currarino Syndrome and HPE Microform Associated with a 2.7-Mb Deletion in 7q36.3 Excluding SHH Gene

Coutton, C., Poreau, B., Devillard, F., Durand, C., Odent, S., Rozel, C., Vieville, G., Amblard, F., Jouk, P.-S., Satre, V.

Journal:

Molecular Syndromology

Année:

2013

Langue:

english

Fichier:

PDF, 857 KB

english, 2013

48

The diagnostic yield of chromosomal microarray analysis in fetuses with increased nuchal translucency: a French multicentre retrospective study

Egloff, Matthieu, Hervé, Bérénice, Quibel, Thibaud, Jaillard, Sylvie, Le Bouar, Gwenaelle, Uguen, Kevin, Saliou, Anne-Hélène, Valduga, Mylène, Perdriolle, Estelle, Coutton, Charles, Coston, Anne-Laure

Journal:

Ultrasound in Obstetrics & Gynecology

Année:

2017

Fichier:

PDF, 1.08 MB

2017

49

Apport de l’ACPA dans le diagnostic étiologique des fœtus avec hyperclarté nucale au premier trimestre de grossesse : étude rétrospective multicentrique nationale incluant 720 fœtus

Egloff, M., Hervé, B., Jaillard, S., Uguen, K., Valduga, M., Coutton, C., Coussement, A., Missirian, C., Prieur, F., Muti, C., Salomon, L.-J., Vialard, F., Malan, V.

Journal:

Année:

2017

Langue:

french

Fichier:

PDF, 77 KB

french, 2017

50

Homozygous missense mutation L673P in Adenylate Kinase 7 (AK7) leads to primary male infertility and Multiple Morphological Anomalies of the Flagella but not to Primary Ciliary Dyskinesia.

Lorès, Patrick, Coutton, Charles, El Khouri, Elma, Stouvenel, Laurence, Givelet, Maëlle, Thomas, Lucie, Rode, Baptiste, Schmitt, Alain, Louis, Bruno, Sakheli, Zeinab, Chaudhry, Marhaba, Fernandez-Gonz

Journal:

Human Molecular Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 2.55 MB

english, 2018