Jacquemont, S. : rechercher sur Z-Library

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1

A lower bound on the sample size needed to perform a significant frequent pattern mining task

Stéphanie Jacquemont, François Jacquenet, Marc Sebban

Journal:

Pattern Recognition Letters

Année:

2009

Langue:

english

Fichier:

PDF, 529 KB

english, 2009

2

Sex differences in brain plasticity: a new hypothesis for sex ratio bias in autism

Mottron, Laurent, Duret, Pauline, Mueller, Sophia, Moore, Robert D, Forgeot d’Arc, Baudouin, Jacquemont, Sebastien, Xiong, Lan

Journal:

Molecular Autism

Année:

2015

Langue:

english

Fichier:

PDF, 1.09 MB

english, 2015

3

Aarskog–Scott syndrome: Clinical update and report of nine novel mutations of the FGD1 gene

A. Orrico, L. Galli, L. Faivre, J. Clayton-Smith, S.M. Azzarello-Burri, J.M. Hertz, S. Jacquemont, R. Taurisano, I. Arroyo Carrera, E. Tarantino, K. Devriendt, D. Melis, T. Thelle, U. Meinhardt, V. So

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 126 KB

english, 2010

4

Mining probabilistic automata: a statistical view of

Stéphanie Jacquemont, François Jacquenet, Marc Sebban

Journal:

Machine Learning

Année:

2009

Langue:

english

Fichier:

PDF, 2.28 MB

english, 2009

5

Psychiatric disorders in children with 16p11.2 deletion and duplication

Niarchou, Maria, Chawner, Samuel J. R. A., Doherty, Joanne L., Maillard, Anne M., Jacquemont, Sébastien, Chung, Wendy K., Green-Snyder, LeeAnne, Bernier, Raphael A., Goin-Kochel, Robin P., Hanson, Ell

Journal:

Translational Psychiatry

Année:

2019

Fichier:

PDF, 449 KB

2019

6

Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome

Valérie Bélien, Marion Gérard-Blanluet, Stéphane Serero, Nathalie Le Dû, Clarisse Baumann, Marie-Line Jacquemont, Céline Dupont, Kada Krabchi, Séverine Drunat, Annie Elbez, Jean-Claude Janaud, Brigitt

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 140 KB

english, 2008

7

Mosaic trisomy 22: five new cases with variable outcomes. Implications for genetic counselling and clinical management

Sandrine Leclercq, Xavier Baron, Marie-Line Jacquemont, Fabrice Cuillier, François Cartault

Journal:

Prenatal Diagnosis

Année:

2010

Langue:

english

Fichier:

PDF, 59 KB

english, 2010

8

The Convention on Biological Diversity and the Climate Change Convention 10 Years After Rio: Towards a Synergy of the Two Regimes?

Frédéric Jacquemont, Alejandro Caparrós

Journal:

Review of European Community & International Environmental Law

Année:

2002

Langue:

english

Fichier:

PDF, 171 KB

english, 2002

9

Transnational Politics of the Environment: The European Union and Environment Policy in Central and Eastern Europe by Liliana B. Andonova

Frédéric Jacquemont

Journal:

Review of European Community & International Environmental Law

Année:

2006

Langue:

english

Fichier:

PDF, 68 KB

english, 2006

10

The Essence of the Game and Its Locus in Jean Genet's Le Balcon

Christiane Vymétal Jacquemont

Journal:

The French Review

Année:

1980

Langue:

english

Fichier:

PDF, 719 KB

english, 1980

11

A novel INPP5K mutation in a sibship from the Reunion Island

Nelson, I., Jacquemont, M., Urtizberea, A., Renouil, M., Boland, A., Masson, C., Ben Yaou, R., Bonne, G.

Journal:

Neuromuscular Disorders

Année:

2017

Langue:

english

Fichier:

PDF, 255 KB

english, 2017

12

Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome

Alessandri, Jean-Luc, Gordon, Christopher T., Jacquemont, Marie-Line, Gruchy, Nicolas, Ajeawung, Norbert F, Benoist, Guillaume, Oufadem, Myriam, Chebil, Asma, Duffourd, Yannis, Dumont, Coralie, Gérard

Journal:

European Journal of Human Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 2.02 MB

english, 2018

13

High circulating CD4 + CD25 hi FOXP3 + T-cell sub-population early after lung transplantation is associated with development of bronchiolitis obliterans syndrome

Durand, Maxim, Lacoste, Philippe, Danger, Richard, Jacquemont, Lola, Brosseau, Carole, Durand, Eugénie, Tilly, Gaelle, Loy, Jennifer, Foureau, Aurore, Royer, Pierre-Joseph, Tissot, Adrien, Roux, Antoi

Journal:

The Journal of Heart and Lung Transplantation

Année:

2018

Langue:

english

Fichier:

PDF, 560 KB

english, 2018

14

Auditory repetition suppression alterations in relation to cognitive functioning in fragile X syndrome: a combined EEG and machine learning approach

Knoth, Inga Sophia, Lajnef, Tarek, Rigoulot, Simon, Lacourse, Karine, Vannasing, Phetsamone, Michaud, Jacques L., Jacquemont, Sébastien, Major, Philippe, Jerbi, Karim, Lippé, Sarah

Journal:

Journal of Neurodevelopmental Disorders

Année:

2018

Langue:

english

Fichier:

PDF, 819 KB

english, 2018

15

IL-7 receptor blockade blunts antigen-specific memory T cell responses and chronic inflammation in primates

Belarif, Lyssia, Mary, Caroline, Jacquemont, Lola, Mai, Hoa Le, Danger, Richard, Hervouet, Jeremy, Minault, David, Thepenier, Virginie, Nerrière-Daguin, Veronique, Nguyen, Elisabeth, Pengam, Sabrina,

Journal:

Nature Communications

Année:

2018

Langue:

english

Fichier:

PDF, 2.07 MB

english, 2018

16

Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility

Ghali, Neeti, Baker, Duncan, Brady, Angela F., Burrows, Nigel, Cervi, Elena, Cilliers, Deirdre, Frank, Michael, Germain, Dominique P., Hulmes, David J. S., Jacquemont, Marie-line, Kannu, Peter, Lefroy

Journal:

Genetics in Medicine

Année:

2019

Langue:

english

Fichier:

PDF, 776 KB

english, 2019

17

Tinkering with the vasopressin pathway in autism

Forgeot d’Arc, Baudouin, Mottron, Laurent, Elsabbagh, Mayada, Jacquemont, Sébastien

Journal:

Science Translational Medicine

Année:

2019

Langue:

english

Fichier:

PDF, 151 KB

english, 2019

18

心脸皮肤综合症中的皮肤表现

Bessis, D., Morice‐Picard, F., Bourrat, E., Abadie, C., Aouinti, S., Baumann, C., Best, M., Bursztejn, A.‐C., Capri, Y., Chiaverini, C., Coubes, C., Giuliano, F., Hadj‐Rabia, S., Jacquemont, M.‐L., La

Journal:

British Journal of Dermatology

Année:

2019

Fichier:

PDF, 152 KB

2019

19

心脸皮肤综合症中的皮肤表现

Bessis, D., Morice‐Picard, F., Bourrat, E., Abadie, C., Aouinti, S., Baumann, C., Best, M., Bursztejn, A.‐C., Capri, Y., Chiaverini, C., Coubes, C., Giuliano, F., Hadj‐Rabia, S., Jacquemont, M.‐L., La

Journal:

British Journal of Dermatology

Année:

2019

Fichier:

PDF, 152 KB

2019

20

Glutamate-modulated production of GABA in immortalized astrocytes transduced by a glutamic acid decarboxylase-expressing retrovirus

S.A. Sacchettoni, M. Benchaibi, M. Sindou, M.F. Belin, B. Jacquemont

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 84 KB

english, 1998

21

Familial congenital pulmonary lymphangectasia, non-immune hydrops fetalis, facial and lower limb lymphedema: Confirmation of Njolstad's report

Sébastien Jacquemont, Sébastien Barbarot, Michelle Bocéno, Jean François Stalder, Albert David

Journal:

American Journal of Medical Genetics Part A

Année:

2000

Langue:

english

Fichier:

PDF, 199 KB

english, 2000

22

High risk of malignancy in mosaic variegated aneuploidy syndrome

Sébastien Jacquemont, Michelle Bocéno, Jean Marie Rival, Françoise Méchinaud, Albert David

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Langue:

english

Fichier:

PDF, 71 KB

english, 2002

23

Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter

Nicolas Gruchy, Marie-Line Jacquemont, Stanislas Lyonnet, Philippe Labrune, Imen El Kamel, Jean-Pierre Siffroi, Marie-France Portnoï

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 248 KB

english, 2007

24

Autosomal dominant spondylocarpotarsal synostosis syndrome: Phenotypic homogeneity and genetic heterogeneity

B. Isidor, V. Cormier-Daire, M. Le Merrer, T. Lefrancois, A. Hamel, C. Le Caignec, A. David, S. Jacquemont

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 145 KB

english, 2008

25

Determination of chloral hydrate and its metabolites (trichloroethanol and trichloracetic acid) in human plasma and urine using electron capture gas chromatography

L. Humbert, M. C. Jacquemont, E. Leroy, F. Leclerc, N. Houdret, M. Lhermitte

Journal:

Biomedical Chromatography

Année:

1994

Langue:

english

Fichier:

PDF, 527 KB

english, 1994

26

Simultaneous determination of tryptophan and kynurenine in serum by HPLC with UV and ﬂuorescence detection

J. Vignau, M.-C. Jacquemont, A. Lefort, M. Imbenotte, M. Lhermitte

Journal:

Biomedical Chromatography

Année:

2004

Langue:

english

Fichier:

PDF, 112 KB

english, 2004

27

Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity

Philip B. Daniel, Tim Morgan, Yasemin Alanay, Emilia Bijlsma, Tae-Joon Cho, Trevor Cole, Felicity Collins, Albert David, Koen Devriendt, Laurence Faivre, Shiro Ikegawa, Sebastien Jacquemont, Milos Jes

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 399 KB

english, 2012

28

Screen for expanded FMR1 alleles in patients with essential tremor

Dolores Garcia Arocena, Elan D. Louis, Flora Tassone, T. Conrad Gilliam, Ruth Ottman, Sébastien Jacquemont, Paul J. Hagerman

Journal:

Movement Disorders

Année:

2004

Langue:

english

Fichier:

PDF, 68 KB

english, 2004

29

Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome

Jim Grigsby, Angela G. Brega, Maureen A. Leehey, Glenn K. Goodrich, Sébastien Jacquemont, Danuta Z. Loesch, Jennifer B. Cogswell, Jennifer Epstein, Rebecca Wilson, Tristan Jardini, Emma Gould, Rachael

Journal:

Movement Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 70 KB

english, 2007

30

Fragile X-associated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelines

Elizabeth Berry-Kravis, Liane Abrams, Sarah M. Coffey, Deborah A. Hall, Claudia Greco, Louise W. Gane, Jim Grigsby, James A. Bourgeois, Brenda Finucane, Sebastien Jacquemont, James A. Brunberg, Lin Zh

Journal:

Movement Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 307 KB

english, 2007

31

Glutamic Acid Decarboxylase-Expressing Astrocytes Exhibit Enhanced Energetic Metabolism and Increase PC12 Cell Survival Under Glucose Deprivation

J.P. Bellier, S. Sacchettoni, C. Prod'hon, A. Perret-Liaudet, M.F. Belin, B. Jacquemont

Journal:

Journal of Neurochemistry

Année:

2000

Langue:

english

Fichier:

PDF, 139 KB

english, 2000

32

Enhanced neuronal protection from oxidative stress by coculture with glutamic acid decarboxylase-expressing astrocytes

C. Lamigeon, J. P. Bellier, S. Sacchettoni, M. Rujano, B. Jacquemont

Journal:

Journal of Neurochemistry

Année:

2001

Langue:

english

Fichier:

PDF, 582 KB

english, 2001

33

The Fanconi anemia pathway and ubiquitin

Céline Jacquemont, Toshiyasu Taniguchi

Journal:

BMC Biochemistry

Année:

2007

Langue:

english

Fichier:

PDF, 866 KB

english, 2007

34

Gorlin syndrome presenting as prenatal chylothorax in a girl

D. Geneviève, E. Walter, P. Gorry, M. L. Jacquemont, L. Dupic, V. Layet, A. Munnich, V. Cormier-Daire, M. Dommergues, S. Lyonnet, D. Mitanchez

Journal:

Prenatal Diagnosis

Année:

2005

Langue:

english

Fichier:

PDF, 175 KB

english, 2005

35

Ribosome and protein synthesis modifications after infection of human epidermoid carcinoma cells with herpes simplex virus type 1

Thierry Masse, Dominique Garcin, Bernard Jacquemont, Jean-Jacques Madjar

Journal:

Molecular Genetics and Genomics

Année:

1990

Langue:

english

Fichier:

PDF, 3.68 MB

english, 1990

36

In vitro divergence of HSV-1 populations propagated in different cell lines

A. L. Epstein, Monique Lyon, Yvonne Michal, B. Jacquemont

Journal:

Archives of Virology

Année:

1990

Langue:

english

Fichier:

PDF, 939 KB

english, 1990

37

Herpes simplex type 1 infection of nonpermissive rat XC cells

A. Epstein, B. Jacquemont, J. Huppert

Journal:

Archives of Virology

Année:

1980

Langue:

english

Fichier:

PDF, 1.04 MB

english, 1980

38

Early neurological impairment and severe anemia in a newborn with Pearson syndrome

Anne-Sophie Morel, Nadia Joris, Reto Meuli, Sébastien Jacquemont, Diana Ballhausen, Luisa Bonafé, Sarah Fattet, Jean-François Tolsa

Journal:

European Journal of Pediatrics

Année:

2009

Langue:

english

Fichier:

PDF, 168 KB

english, 2009

39

Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?

M Krahn, M Goicoechea, F Hanisch, E Groen, M Bartoli, C Pécheux, F Garcia-Bragado, F Leturcq, P-Y Jeannet, JA Lobrinus, S Jacquemont, J Strober, JA Urtizberea, A Saenz, K Bushby, N Lévy, A Lopez de Mu

Journal:

Clinical Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 501 KB

english, 2011

40

Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome

Leroy, Chrystel, Fouveaut, Corinne, Leclercq, Sandrine, Jacquemont, Sébastien, Boullay, Hélène Du, Lespinasse, James, Delpech, Marc, Dupont, Jean-Michel, Hardelin, Jean-Pierre, Dodé, Catherine

Journal:

European Journal of Human Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 92 KB

english, 2008

41

Building genetic medicine, a tale of two countries: Building Genetic Medicine

Jacquemont, Sébastien

Journal:

European Journal of Human Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 46 KB

english, 2008

42

The phenotype of recurrent 10q22q23 deletions and duplications

van Bon, Bregje W M, Balciuniene, Jorune, Fruhman, Gary, Nagamani, Sandesh Chakravarthy Sreenath, Broome, Diane L, Cameron, Elizabeth, Martinet, Danielle, Roulet, Eliane, Jacquemont, Sebastien, Beckma

Journal:

European Journal of Human Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 568 KB

english, 2011

43

Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency

Jacquemont, Sebastien, Birnbaum, Stefanie, Redler, Silke, Steinbach, Peter, Biancalana, Valérie

Journal:

European Journal of Human Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 411 KB

english, 2011

44

Secondary mutations as a mechanism of cisplatin resistance in BRCA2-mutated cancers

Jacquemont, Céline, Farrugia, Daniel J., Couch, Fergus J., Sakai, Wataru, Swisher, Elizabeth M., Karlan, Beth Y., Agarwal, Mukesh K., Higgins, Jake, Friedman, Cynthia, Villegas, Emily

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 604 KB

english, 2008

45

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

Walters, R. G., Jacquemont, S., Valsesia, A., de Smith, A. J., Martinet, D., Andersson, J., Falchi, M., Chen, F., Andrieux, J., Lobbens, S.

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 288 KB

english, 2010

46

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

Isidor, Bertrand, Lindenbaum, Pierre, Pichon, Olivier, Bézieau, Stéphane, Dina, Christian, Jacquemont, Sébastien, Martin-Coignard, Dominique, Thauvin-Robinet, Christel, Le Merrer, Martine, Mandel, Jea

Journal:

Nature Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 334 KB

english, 2011

47

Screening for FXTAS

Jacquemont, Sébastien

Journal:

European Journal of Human Genetics

Année:

2004

Langue:

english

Fichier:

PDF, 48 KB

english, 2004

48

A single mutated BRCA1 allele leads to impaired fidelity of double strand break end-joining

Baldeyron, Céline, Jacquemin, Emilie, Smith, Julianne, Jacquemont, Céline, De Oliveira, Isabelle, Gad, Sophie, Feunteun, Jean, Stoppa-Lyonnet, Dominique, Papadopoulo, Dora

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 355 KB

english, 2002

49

The Pseudorabies Virus Host-Shutoff Homolog Gone: Nucleotide Sequence and Comparison with Alphaherpesvirus Protein Counterparts

Herve Berthomme, Bernard Jacquemont, Alberto Epstein

Journal:

Année:

1993

Fichier:

PDF, 291 KB

1993

50

Characterization of Regulatory Functions of the HSV-1 Immediate-Early Protein ICP22

Catherine Prod'hon, Irma Machuca, Herve Berthomme, Alberto Epstein, Bernard Jacquemont

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 573 KB

english, 1996