Szepetowski, Pierre : rechercher sur Z-Library

Sandrine Pereira, José Pedro Vieira, Pierre Cau, Pierre Genton, Pierre Szepetowski

Année:

2017

Langue:

english

Fichier:

PDF, 9.95 MB

english, 2017

Epilepsy and deletions at chromosome 2q24

Journal:

American Journal of Medical Genetics Part A

Année:

2006

Langue:

english

Fichier:

PDF, 86 KB

english, 2006

The 11q13 amplicon of a mammary carcinoma cell line

Marina Lafage, Catherine Nguyen, Pierre Szepetowski, Marie-Josèphe Pébusque, Jacqueline Simonetti, Geneviéve Courtois, Patrick Gaudray, Odile Delapeyriere, Bertrand Jordan, Dr. Daniel Birnbaum

Journal:

Genes, Chromosomes and Cancer

Année:

1990

Langue:

english

Fichier:

PDF, 1.01 MB

english, 1990

Clinical and Genetic Analysis of a New Multigenerational Pedigree with GEFS+ (Generalized Epilepsy with Febrile Seizures Plus)

Frédérique Gérard, Sandrine Pereira, Andrée Robaglia-Schlupp, Pierre Genton, Pierre Szepetowski

Journal:

Vincent Ollendorff, Pierre Szepetowski, Marie-Genevière Mattei, Patrick Gaudray, Daniel Birnbaum

Année:

2002

Langue:

english

Fichier:

PDF, 591 KB

english, 2002

Molecular evolution of the humanSRPX2gene that causes brain disorders of the Rolandic and Sylvian speech areas

Barbara Royer, Dinesh C Soares, Paul N Barlow, Ronald E Bontrop, Patrice Roll, Andrée Robaglia-Schlupp, Antoine Blancher, Anthony Levasseur, Pierre Cau, Pierre Pontarotti, Pierre Szepetowski

Journal:

BMC Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 818 KB

english, 2007

New gene in the homologous human 11q13–q14 and mouse 7F chromosomal regions

Journal:

Mammalian Genome

Année:

1992

Langue:

english

Fichier:

PDF, 1.18 MB

english, 1992

Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese family

Wei-Ling Lee, A. Tay, Hian-Tat Ong, Li-Meng Goh, Anthony P. Monaco, Pierre Szepetowski

Journal:

Human Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 54 KB

english, 1998

Recent progress in the genetics of human epilepsies

Pierre Szepetowski, A. P. Monaco

Journal:

neurogenetics

Année:

1998

Langue:

english

Fichier:

PDF, 212 KB

english, 1998

Electronic identification and chromosomal assignment by radiation hybrid mapping of human expressed sequence tags corresponding to new potassium channel genes

Pierre Szepetowski, Anthony P. Monaco

Journal:

neurogenetics

Année:

1999

Langue:

english

Fichier:

PDF, 70 KB

english, 1999

Complete Loss of the Cytoplasmic Carboxyl Terminus of the KCNQ2 Potassium Channel: A Novel Mutation in a Large Czech Pedigree with Benign Neonatal Convulsions or Other Epileptic Phenotypes

Sandrine Pereira, Patrice Roll, Jitka Krizova, Pierre Genton, Milan Brazdil, Robert Kuba, Pierre Cau, Ivan Rektor, Pierre Szepetowski

Journal:

Maria Paola Valenti, Gabrielle Rudolf, Sophie Carré, Pascal Vrielynck, Anne Thibault, Pierre Szepetowski, Edouard Hirsch

Année:

2004

Langue:

english

Fichier:

PDF, 271 KB

english, 2004

Language-induced Epilepsy, Acquired Stuttering, and Idiopathic Generalized Epilepsy: Phenotypic Study of One Family

Journal:

Gabrielle Rudolf, Maria P. Valenti, Edouard Hirsch, Pierre Szepetowski

Année:

2006

Langue:

english

Fichier:

PDF, 548 KB

english, 2006

From rolandic epilepsy to continuous spike-and-waves during sleep and Landau-Kleffner syndromes: Insights into possible genetic factors

Journal:

Patrick Gaudray, Pierre Szepetowski, Chantal Escot, Daniel Birnbaum, Charles Theillet

Année:

2009

Langue:

english

Fichier:

PDF, 58 KB

english, 2009

DNA amplification at 11q13 in human cancer: from complexity to perplexity

Journal:

Mutation Research/Reviews in Genetic Toxicology

Année:

1992

Langue:

english

Fichier:

PDF, 956 KB

english, 1992

Mapping Genes According to Their Amplification Status in Tumor Cells: Contribution to the Map of 11ql3

Pierre Szepetowski, Danielle Perucca-Lostanlen, Patrick Gaudray

Journal:

Pierre Szepetowski, Patrick Gaudray

Année:

1993

Fichier:

PDF, 486 KB

1993

FCERIB, a Candidate Gene for Atopy, Is Located in 11q13 between CD20 and TCN1

Journal:

Joëlle Vailly, Pierre Szepetowski, Marie Geneviève Mattei, Florence Pedeutour, Robert Burgeson, Jean Paul Ortonne, Guerrino Meneguzzi

Année:

1994

Fichier:

PDF, 120 KB

1994

The Genes for Nicein/Kalinin 125- and 100-kDa Subunits, Candidates for Junctional Epidermolysis Bullosa, Map to Chromosomes 1q32 and 1q25-q31

Journal:

Anouk Courseaux, Pierre Szepetowski, Marie Fernandes, Carine Serizet, Yoshihiko Kawaguchi, Josiane Grosgeorge, Danielle Perucca-Lostanlen, Thomas B. Shows, John A. Todd, Norma J. Nowak, Patrick Gaudra

Année:

1994

Fichier:

PDF, 200 KB

1994

Framework YAC Contig Anchored into a 3.2-Mb High-Resolution Physical Map in Proximal 11q13

Journal:

Patrice Roll, Annick Massacrier, Sandrine Pereira, Andrée Robaglia-Schlupp, Pierre Cau, Pierre Szepetowski

Année:

1997

Langue:

english

Fichier:

PDF, 318 KB

english, 1997

New human sodium/glucose cotransporter gene (KST1): identification, characterization, and mutation analysis in ICCA (infantile convulsions and choreoathetosis) and BFIC (benign familial infantile convulsions) families

Journal:

Gene

Année:

2002

Langue:

english

Fichier:

PDF, 583 KB

english, 2002

Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Marie-Tooth Disorder Type 2) and Mouse

Annachiara De Sandre-Giovannoli, Malika Chaouch, Serguei Kozlov, Jean-Michel Vallat, Meriem Tazir, Nadia Kassouri, Pierre Szepetowski, Tarik Hammadouche, Antoon Vandenberghe, Colin L. Stewart, Djamel

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 980 KB

english, 2002

Familial Infantile Convulsions and Paroxysmal Choreoathetosis: A New Neurological Syndrome Linked to the Pericentromeric Region of Human Chromosome 16

Pierre Szepetowski, Jacques Rochette, Patrick Berquin, Charles Piussan, G. Mark Lathrop, Anthony P. Monaco

Journal:

The American Journal of Human Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 169 KB

english, 1997

Molecular genetics of human bladder carcinomas

Danielle Perucca, Pierre Szepetowski, Marie-Pierre Simon, Patrick Gaudray

Journal:

Cancer Genetics and Cytogenetics

Année:

1990

Langue:

english

Fichier:

PDF, 777 KB

english, 1990

DNA amplification in human breast cancers: Complexity of the 11q13 based amplicons

Patrick Gaudray, Pierre Szepetowski, Chantal Escot, Daniel Birnbaum, Charles Theillet

Journal:

Cancer Genetics and Cytogenetics

Année:

1992

Langue:

english

Fichier:

PDF, 105 KB

english, 1992

Localization of 11q13 loci with respect to regional chromosomal breakpoints

Szepetowski, Pierre, Simon, Marie-Pierre, Grosgeorge, Josiane, Huebner, Kay, Bastard, Christian, Evans, Glen A., Tsujimoto, Yoshihide, Birnbaum, Daniel, Theillet, Charles, Gaudray, Patrick

Journal:

Szepetowski, Pierre, Nguyen, Catherine, Perucca-Lostanlen, Danielle, Carle, Georges F., Tsujimoto, Yoshihide, Birnbaum, Daniel, Theillet, Charles, Gaudray, Patrick

Année:

1992

Langue:

english

Fichier:

PDF, 3.59 MB

english, 1992

D11S146 and BCL1 are physically linked but can be discriminated by their amplification status in human breast cancer

Journal:

Lauxmann, Stephan, Boutry-Kryza, Nadia, Rivier, Clotilde, Mueller, Stephan, Hedrich, Ulrike B. S., Maljevic, Snezana, Szepetowski, Pierre, Lerche, Holger, Lesca, Gaetan

Année:

1991

Langue:

english

Fichier:

PDF, 3.38 MB

english, 1991

An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na + current

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 261 KB

english, 2013

NMDA receptor subunit mutations in neurodevelopmental disorders

Current Opinion in Pharmacology

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 451 KB

english, 2015

The Role of the Urokinase Receptor in Epilepsy, in Disorders of Language, Cognition, Communication and Behavior, and in the Central Nervous System

Bruneau, Nadine, Szepetowski, Pierre

Journal:

Current Pharmaceutical Design

Année:

2011

Langue:

english

Fichier:

PDF, 230 KB

english, 2011

Genetics Studies in Idiopathic Focal Epilepsies in Childhood

Szepetowski, Pierre

Journal:

Journal of Pediatric Epilepsy

Année:

2016

Langue:

english

Fichier:

PDF, 80 KB

english, 2016

[Methods in Molecular Biology] NMDA Receptors Volume 1677 || NMDA Receptors in the Central Nervous System

Année:

2017

Langue:

english

Fichier:

PDF, 3.05 MB

english, 2017

[Methods in Molecular Biology] NMDA Receptors Volume 1677 || Development of a Computational Approach/Model to Explore NMDA Receptors Functions

Année:

2017

Langue:

english

Fichier:

PDF, 723 KB

english, 2017

[Methods in Molecular Biology] NMDA Receptors Volume 1677 || NMDA Receptors as Voltage Sensors

Année:

2017

Langue:

english

Fichier:

PDF, 174 KB

english, 2017

[Methods in Molecular Biology] NMDA Receptors Volume 1677 || Design of Light-Sensitive NMDARs by Genetically Encoded Photo-Cross-Linkers

Année:

2017

Langue:

english

Fichier:

PDF, 410 KB

english, 2017

[Methods in Molecular Biology] NMDA Receptors Volume 1677 || Genetic and Functional Analysis of GRIN2A in Tumor Samples

Année:

2017

Langue:

english

Fichier:

PDF, 929 KB

english, 2017

[Methods in Molecular Biology] NMDA Receptors Volume 1677 || NMDA Receptor Activity in Circulating Red Blood Cells: Methods of Detection

Année:

2017

Langue:

english

Fichier:

PDF, 804 KB

english, 2017

[Methods in Molecular Biology] NMDA Receptors Volume 1677 || Analysis of Functional NMDA Receptors in Astrocytes

Année:

2017

Langue:

english

Fichier:

PDF, 465 KB

english, 2017

[Methods in Molecular Biology] NMDA Receptors Volume 1677 || Gene Targeted Mice with Conditional Knock-In (-Out) of NMDAR Mutations

Année:

2017

Langue:

english

Fichier:

PDF, 1.01 MB

english, 2017

[Methods in Molecular Biology] NMDA Receptors Volume 1677 || Detection of NMDARs Antibodies in Encephalitis

Année:

2017

Langue:

english

Fichier:

PDF, 555 KB

english, 2017

[Methods in Molecular Biology] NMDA Receptors Volume 1677 || Selective Cell-Surface Expression of Triheteromeric NMDA Receptors

Année:

2017

Langue:

english

Fichier:

PDF, 464 KB

english, 2017

[Methods in Molecular Biology] NMDA Receptors Volume 1677 || GluNs Detection and Functions in Microglial Cells

Année:

2017

Langue:

english

Fichier:

PDF, 146 KB

english, 2017

[Methods in Molecular Biology] NMDA Receptors Volume 1677 || Electrophysiological Investigation of NMDA Current Properties in Brain Slices

Année:

2017

Langue:

english

Fichier:

PDF, 181 KB

english, 2017

[Methods in Molecular Biology] NMDA Receptors Volume 1677 || Functional Analysis of Recombinant Channels in Host Cells Using a Fast Agonist Application System

Année:

2017

Langue:

english

Fichier:

PDF, 199 KB

english, 2017

[Methods in Molecular Biology] NMDA Receptors Volume 1677 || Transfection in Primary Cultured Neuronal Cells

Année:

2017

Langue:

english

Fichier:

PDF, 250 KB

english, 2017

[Methods in Molecular Biology] NMDA Receptors Volume 1677 || GluN2B Subunit Labeling with Fluorescent Probes and High-Resolution Live Imaging

Année:

2017

Langue:

english

Fichier:

PDF, 349 KB

english, 2017

[Methods in Molecular Biology] NMDA Receptors Volume 1677 || Magnetofection™ of NMDA Receptor Subunits GluN1 and GluN2A Expression Vectors in Non-Neuronal Host Cells

Saultier, Paul, Szepetowski, Sarah, Canault, Matthias, Falaise, Céline, Poggi, Marjorie, Suchon, Pierre, Barlogis, Vincent, Michel, Gérard, Loyau, Stéphane, Jandrot-Perrus, Martine, Bordet, Jean-Claud

Année:

2017

Langue:

english

Fichier:

PDF, 223 KB

english, 2017

Genetics of human epilepsies: Continuing progress

Szepetowski, Pierre

Journal:

La Presse Médicale

Année:

2017

Fichier:

PDF, 260 KB

2017

Long-term management of leukocyte adhesion deficiency type III without hematopoietic stem cell transplantation

Journal:

Haematologica

Année:

2018

Langue:

english

Fichier:

PDF, 507 KB

english, 2018

Functional Properties of Human NMDA Receptors Associated with Epilepsy-Related Mutations of GluN2A Subunit

Sibarov, Dmitry A., Bruneau, Nadine, Antonov, Sergei M., Szepetowski, Pierre, Burnashev, Nail, Giniatullin, Rashid

Journal:

Frontiers in Cellular Neuroscience

Année:

2017

Langue:

english

Fichier:

PDF, 1.89 MB

english, 2017

Transient microstructural brain anomalies and epileptiform discharges in mice defective for epilepsy and language-related NMDA receptor subunit gene Grin2a

Salmi, Manal, Bolbos, Radu, Bauer, Sylvian, Minlebaev, Marat, Burnashev, Nail, Szepetowski, Pierre

Journal: