Vincent El Ghouzzi : rechercher sur Z-Library

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1

Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome

Lajeunie, Elisabeth, Heuertz, Solange, El Ghouzzi, Vincent, Martinovic, Jelena, Renier, Dominique, Le Merrer, Martine, Bonaventure, Jacky

Journal:

European Journal of Human Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 262 KB

english, 2006

2

Implanted Neurosphere-Derived Precursors Promote Recovery After Neonatal Excitotoxic Brain Injury

Titomanlio, Luigi, Bouslama, Myriam, Le Verche, Virginia, Dalous, Jérémie, Kaindl, Angela M., Tsenkina, Yanina, Lacaud, Adrien, Peineau, Stéphane, Ghouzzi, Vincent El, Lelièvre, Vincent, Gressens, Pie

Journal:

Stem Cells and Development

Année:

2011

Langue:

english

Fichier:

PDF, 1.30 MB

english, 2011

3

STIL balancing primary microcephaly and cancer

Dhruti, Patwardhan, Shyamala, Mani, Sandrine, Passemard, Pierre, Gressens, Vincent, El Ghouzzi

Journal:

Cell Death and Disease

Année:

2018

Langue:

english

Fichier:

PDF, 1.87 MB

english, 2018

4

Dyggve–Melchior–Clausen syndrome and Smith–McCort dysplasia: Clinical and molecular findings in three families supporting genetic heterogeneity in Smith–McCort dysplasia

Luitgard M. Neumann, Vincent El Ghouzzi, Vincent Paupe, Hans-Peter Weber, Elisabeth Fastnacht, Andreas Leenen, Sigrid Lyding, Anne Klusmann, Ertan Mayatepek, Jörg Pelz, Valerie Cormier-Daire

Journal:

American Journal of Medical Genetics Part A

Année:

2006

Langue:

english

Fichier:

PDF, 580 KB

english, 2006

5

Stem cell therapy for neonatal brain injury: Perspectives and Challenges

Luigi Titomanlio, Annemieke Kavelaars, Jeremie Dalous, Shyamala Mani, Vincent El Ghouzzi, Cobi Heijnen, Olivier Baud, Pierre Gressens

Journal:

Annals of Neurology

Année:

2011

Langue:

english

Fichier:

PDF, 313 KB

english, 2011

6

Activated Somatostatin Type 2 Receptors Traffic In Vivo in Central Neurons from Dendrites to the Trans Golgi Before Recycling

Zsolt Csaba, Benjamin Lelouvier, Cécile Viollet, Vincent El Ghouzzi, Kiyoko Toyama, Catherine Videau, Véronique Bernard, Pascal Dournaud

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 1.29 MB

english, 2007

7

Mutations of the TWIST gene in the Saethre-Chotzene syndrome

Ghouzzi, Vincent El, Merrer, Martine Le, Perrin-Schmitt, Fabienne, Lajeunie, Elisabeth, Benit, Paule, Renier, Dominique, Bourgeois, Patrice, Bolcato-Bellemin, Anne-Laure, Munnich, Arnold, Bonaventure,

Journal:

Nature Genetics

Année:

1997

Fichier:

PDF, 817 KB

1997

8

Mutations within or upstream of the basic helix–loop–helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome

El Ghouzzi, Vincent, Lajeunie, Elisabeth, Le Merrer, Martine, Cormier-Daire, Valérie, Renier, Dominique, Munnich, Arnold, Bonaventure, Jacky

Journal:

European Journal of Human Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 372 KB

english, 1999

9

Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation

Geneviève, David, Héron, Delphine, El Ghouzzi, Vincent, Prost-Squarcioni, Catherine, Le Merrer, Martine, Jacquette, Aurélia, Sanlaville, Damien, Pinton, Florence, Villeneuve, Nathalie, Kalifa, Gabriel

Journal:

European Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 302 KB

english, 2005

10

Recent advances in Dyggve–Melchior–Clausen syndrome

Vincent Paupe, Thierry Gilbert, Martine Le Merrer, Arnold Munnich, Valérie Cormier-Daire, Vincent El Ghouzzi

Journal:

Molecular Genetics and Metabolism

Année:

2004

Langue:

english

Fichier:

PDF, 1.14 MB

english, 2004

11

Mutations in the basic domain and the loop–helix II junction of TWIST abolish DNA binding in Saethre–Chotzen syndrome

Vincent El Ghouzzi, Laurence Legeai-Mallet, Catherine Benoist-Lasselin, Elisabeth Lajeunie, Dominique Renier, Arnold Munnich, Jacky Bonaventure

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 497 KB

english, 2001

12

A Novel RAB33B Mutation in Smith-McCort Dysplasia

Dupuis, Nina, Lebon, Sophie, Kumar, Manoj, Drunat, Séverine, Graul-Neumann, Luitgard M., Gressens, Pierre, El Ghouzzi, Vincent

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 234 KB

english, 2013

13

Conditional Induction of Math1 Specifies Embryonic Stem Cells to Cerebellar Granule Neuron Lineage and Promotes Differentiation into Mature Granule Neurons

Srivastava, Rupali, Kumar, Manoj, Peineau, Stéphane, Csaba, Zsolt, Mani, Shyamala, Gressens, Pierre, El Ghouzzi, Vincent

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 2.49 MB

english, 2013

14

Clinical variability in patients with Apert's syndrome

Lajeunie, Elisabeth, Cameron, Rhoda, El Ghouzzi, Vincent, de Parseval, Nathalie, Journeau, Pierre, Gonzales, Marie, Delezoide, Anne-Lise, Bonaventure, Jacky, Le Merrer, Martine, Renier, Dominique

Journal:

Journal of Neurosurgery

Année:

1999

Langue:

english

Fichier:

PDF, 228 KB

english, 1999

15

Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome

Renier, Dominique, El Ghouzzi, Vincent, Bonaventure, Jacky, Le Merrer, Martine, Lajeunie, Elizabeth

Journal:

Journal of Neurosurgery

Année:

2000

Langue:

english

Fichier:

PDF, 154 KB

english, 2000

16

Molecular and cellular bases of syndromic craniosynostoses

Bonaventure, Jacky, El Ghouzzi, Vincent

Journal:

Expert Reviews in Molecular Medicine

Année:

2003

Langue:

english

Fichier:

PDF, 537 KB

english, 2003

17

Craniosynostosis and fetal exposure to sodium valproate

Lajeunie, Elizabeth, Barcik, Uli, Thorne, John A., Ghouzzi, Vincent El, Bourgeois, Marie, Renier, Dominique

Journal:

Journal of Neurosurgery

Année:

2001

Langue:

english

Fichier:

PDF, 226 KB

english, 2001

18

Apoptosis-Inducing Factor Deficiency Induces Early Mitochondrial Degeneration in Brain Followed by Progressive Multifocal Neuropathology

El Ghouzzi, Vincent, Csaba, Zsolt, Olivier, Paul, Lelouvier, Benjamin, Schwendimann, Leslie, Dournaud, Pascal, Verney, Catherine, Rustin, Pierre, Gressens, Pierre

Journal:

Journal of Neuropathology and Experimental Neurology

Année:

2007

Langue:

english

Fichier:

PDF, 4.29 MB

english, 2007

19

Clinical variability in patients with Apert's syndrome

Lajeunie, Elisabeth, Cameron, Rhoda, Ghouzzi, Vincent El, de Parseval, Nathalie, Journeau, Pierre, Gonzales, Marie, Delezoide, Anne-Lise, Bonaventure, Jacky, Le Merrer, Martine, Renier, Dominique

Journal:

Neurosurgical FOCUS

Année:

1999

Langue:

english

Fichier:

PDF, 122 KB

english, 1999

20

Overlap between Baller-Gerold and Rothmund-Thomson syndrome

Mégarbané, André, Melki, Imad, Souraty, Noëlle, Gerbaka, Jinane, Ghouzzi, Vincent El, Bonaventure, Jacky, Mornand, Anne, Loiselet, Jacques

Journal:

Clinical Dysmorphology

Année:

2000

Fichier:

PDF, 1.31 MB

2000

21

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons

Harding, Brian N., Moccia, Amanda, Drunat, Séverine, Soukarieh, Omar, Tubeuf, Hélène, Chitty, Lyn S., Verloes, Alain, Gressens, Pierre, El Ghouzzi, Vincent, Joriot, Sylvie, Di Cunto, Ferdinando, Marti

Journal:

The American Journal of Human Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 4.22 MB

english, 2016

22

Endogenous cerebellar neurogenesis in adult mice with progressive ataxia

Kumar, Manoj, Csaba, Zsolt, Peineau, Stéphane, Srivastava, Rupali, Rasika, Sowmyalakshmi, Mani, Shyamala, Gressens, Pierre, El Ghouzzi, Vincent

Journal:

Annals of Clinical and Translational Neurology

Année:

2014

Langue:

english

Fichier:

PDF, 3.40 MB

english, 2014

23

ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly and p53

Ghouzzi, Vincent El, Bianchi, Federico T, Molineris, Ivan, Mounce, Bryan C, Berto, Gaia E, Rak, Malgorzata, Lebon, Sophie, Aubry, Laetitia, Tocco, Chiara, Gai, Marta, Chiotto, Alessandra MA, Sgrò, Fra

Journal:

Cell Death and Disease

Année:

2016

Langue:

english

Fichier:

PDF, 1.66 MB

english, 2016

24

ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly and p53

Ghouzzi, Vincent El, Bianchi, Federico T, Molineris, Ivan, Mounce, Bryan C, Berto, Gaia E, Rak, Malgorzata, Lebon, Sophie, Aubry, Laetitia, Tocco, Chiara, Gai, Marta, Chiotto, Alessandra MA, Sgrò, Fra

Journal:

Cell Death and Disease

Année:

2017

Langue:

english

Fichier:

PDF, 39 KB

english, 2017

25

Golgi trafficking defects in postnatal microcephaly: The evidence for “Golgipathies”

Passemard, Sandrine, Perez, Franck, Colin-Lemesre, Emilie, Rasika, Sowmyalakshmi, Gressens, Pierre, El Ghouzzi, Vincent

Journal:

Progress in Neurobiology

Année:

2017

Langue:

english

Fichier:

PDF, 1.54 MB

english, 2017

26

Correction to: ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly

El Ghouzzi, Vincent, Bianchi, Federico T., Molineris, Ivan, Mounce, Bryan C., Berto, Gaia E., Rak, Malgorzata, Lebon, Sophie, Aubry, Laetitia, Tocco, Chiara, Gai, Marta, Chiotto, Alessandra M. A., Sgr

Journal:

Cell Death and Disease

Année:

2018

Langue:

english

Fichier:

PDF, 210 KB

english, 2018

27

Golgipathies in Neurodevelopment: A New View of Old Defects

Rasika, Sowmyalakshmi, Passemard, Sandrine, Verloes, Alain, Gressens, Pierre, El Ghouzzi, Vincent

Journal:

Developmental Neuroscience

Année:

2019

Langue:

english

Fichier:

PDF, 748 KB

english, 2019