Bourthoumieu, S.: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

1

Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia

N. Chassaing, S. Bourthoumieu, M. Cossee, P. Calvas, M.-C. Vincent

Journal:

Year:

2006

Language:

english

File:

PDF, 226 KB

english, 2006

2

Two unusual chromosome aberrations ascertained by sonographic anomalies

Sylvie Bourthoumieu, Francoise Esclaire, Faraj Terro, Maryse Fiorenza, Jean-Luc Eyraud, Michel Servaud, Muriel Cantaloube, Veronique Fermeaux, Catherine Yardin

Journal:

Prenatal Diagnosis

Year:

2004

Language:

english

File:

PDF, 193 KB

english, 2004

3

No apoptosis is induced in rat cortical neurons exposed to GSM phone fields

Vanessa Joubert, Philippe Leveque, Marylene Cueille, Sylvie Bourthoumieu, Catherine Yardin

Journal:

Bioelectromagnetics

Year:

2007

Language:

english

File:

PDF, 213 KB

english, 2007

4

Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome

Benjamin Morris, Cécile Etoubleau, Sylvie Bourthoumieu, Sandrine Reynaud-Perrine, Cécile Laroche, Aziza Lebbar, Catherine Yardin, Sarah H. Elsea

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 273 KB

english, 2012

5

GSM-900 MHz at low dose temperature-dependently downregulates α-synuclein in cultured cerebral cells independently of chaperone-mediated-autophagy

Faraj Terro, Amandine Magnaudeix, Marion Crochetet, Ludovic Martin, Sylvie Bourthoumieu, Cornelia-M. Wilson, Catherine Yardin, Philippe Leveque

Journal:

Year:

2012

Language:

english

File:

PDF, 1.27 MB

english, 2012

6

1p19q LOH patterns and expression of p53 and Olig2 in gliomas: relation with histological types and prognosis

Durand, Karine S, Guillaudeau, Angélique, Weinbreck, Nicolas, DeArmas, Rafaël, Robert, Sandrine, Chaunavel, Alain, Pommepuy, Isabelle, Bourthoumieu, Sylvie, Caire, François, Sturtz, Franck G, Labrouss

Journal:

Modern Pathology

Year:

2010

Language:

english

File:

PDF, 454 KB

english, 2010

7

A New Rapid Method for Sorting Endothelial and Neural Progenitors from Human Induced Pluripotent Stem Cells by Sedimentation Field Flow Fractionation.

Faye, Pierre Antoine, Vedrenne, Nicolas, de la Cruz Morcillo, Miguel Angel, Barrot, Claire Cécile, Richard, Laurence, Bourthoumieu, Sylvie, Sturtz, Franck, Funalot, Benoit, Lia, Anne-Sophie, Battu, Se

Journal:

Analytical Chemistry

Year:

2016

Language:

english

File:

PDF, 907 KB

english, 2016

8

Familial 1p36.3 microduplication resulting from a 1p-9q non-reciprocal translocation

Marquet, Valentine, Bourthoumieu, Sylvie, Dobrescu, Amelia, Laroche-Raynaud, Cécile, Yardin, Catherine

Journal:

European Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 1.21 MB

english, 2017

9

Unexpected phenotype in a patient with two chromosomal deletions involving 6pter and 22q11

Salardaine, Q., Marquet, V., Bourthoumieu, S., Dauriat, B., Dobrescu, A., Yardin, C.

Journal:

Year:

2019

File:

PDF, 1009 KB

2019

10

Neuroprotective Effect of Erythropoietin against Pressure Ulcer in a Mouse Model of Small Fiber Neuropathy

Danigo, Aurore, Magy, Laurent, Richard, Laurence, Desmoulière, Alexis, Bourthoumieu, Sylvie, Funalot, Benoît, Demiot, Claire, Eugenin, Eliseo A.

Journal:

Year:

2014

Language:

english

File:

PDF, 2.39 MB

english, 2014

11

Epithelial changes of congenital intestinal obstruction in a rat model

Ballouhey, Quentin, Fourcade, Laurent, Richard, Laurence, Bellet, Camille, El Hamel, Chaharazed, Vallat, Jean Michel, Sturtz, Franck, Bourthoumieu, Sylvie, Singh, Shree Ram

Journal:

Year:

2020

File:

PDF, 1.88 MB

2020

12

Optimized Protocol to Generate Spinal Motor Neuron Cells from Induced Pluripotent Stem Cells from Charcot Marie Tooth Patients

Faye, Pierre-Antoine, Vedrenne, Nicolas, Miressi, Federica, Rassat, Marion, Romanenko, Sergii, Richard, Laurence, Bourthoumieu, Sylvie, Funalot, BenoÃ®t, Sturtz, Franck, Favreau, Frederic, Lia, Anne-S

Journal:

Year:

2020

File:

PDF, 4.45 MB

2020

13

Apoptosis is Induced by Radiofrequency Fields through the Caspase-Independent Mitochondrial Pathway in Cortical Neurons

Joubert, Vanessa, Bourthoumieu, Sylvie, Leveque, Philippe, Yardin, Catherine

Journal:

Radiation Research

Year:

2008

Language:

english

File:

PDF, 1.02 MB

english, 2008

14

EL CIERVO apartado 12121 BARCELONA

FERNANDO de BOURTHOUMIEU

Journal:

Year:

1979

File:

PDF, 294 KB

1979

15

CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer

Derouault, Paco, Chauzeix, Jasmine, Rizzo, David, Miressi, Federica, Magdelaine, Corinne, Bourthoumieu, Sylvie, Durand, Karine, Dzugan, HÃ©lÃ¨ne, Feuillard, Jean, Sturtz, Franck, MÃ©rillou, StÃ©phane,

Journal:

PLoS Computational Biology

Year:

2020

File:

PDF, 2.03 MB

2020

16

EL CIERVO apartado 12121 BARCELONA

Concha Fernández-Luna, J. M. Asurmendi and Fernando de Bourthoumieu

Journal:

Year:

1977

File:

PDF, 491 KB

1977

17

EL CIERVO apartado 12121 BARCELONA

Salvador Carrasco, Fernando de Bourthoumieu, Juan Fernández Marin and C. P. M.

Journal:

Year:

1977

File:

PDF, 523 KB

1977

18

“Cri-du-chat” syndrome in a patient born to a mother with a paracentric inversion of chromosome 5q

Sylvie Bourthoumieu, Françoise Esclaire, Faraj Terro, Marie Claire Baclet, Antoine Bedu, Brigitte Dufetelle, Brigitte Gilbert, Dominique Barthe, Catherine Yardin

Journal:

Annales de Génétique

Year:

2003

Language:

english

File:

PDF, 228 KB

english, 2003

19

Could FISH on buccal smears become a new method of screening in children suspect of HNF1B anomaly?

Laffargue, Fanny, Bourthoumieu, Sylvie, Bellanné-Chantelot, Christine, Guigonis, Vincent, Yardin, Catherine

Journal:

European Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 468 KB

english, 2013

20

Cytogenetic Studies in Human Cells Exposed In Vitro to GSM-900 MHz Radiofrequency Radiation Using R-Banded Karyotyping

Bourthoumieu, S., Joubert, V., Marin, B., Collin, A., Leveque, P., Terro, F., Yardin, C.

Journal:

Radiation Research

Year:

2010

Language:

english

File:

PDF, 1.99 MB

english, 2010

21

Recessive dystrophic epidermolysis bullosa caused by COL7A1 hemizygosity and a missense mutation with complex effects on splicing

Matthias Titeux, José Enrique Mejía, Luciné Mejlumian, Sylvie Bourthoumieu, Sandra Mirval, Laure Tonasso, Michel Heller, Catherine Prost-Squarcioni, Alain Hovnanian

Journal:

Year:

2006

Language:

english

File:

PDF, 416 KB

english, 2006

22

Unusual isochromosome 5p marker chromosome

Roulet-Coudrier, Fanny, Rouibi, Amine, Thuillier, Clotilde, Bourthoumieu, Sylvie, Lebbar, Aziza, Dupont, Jean-Michel, Yardin, Catherine

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 945 KB

english, 2015

23

Contribution of ABCC6 genomic rearrangements to the diagnosis of pseudoxanthoma elasticum in French patients

Nicolas Chassaing, Ludovic Martin, Sylvie Bourthoumieu, Patrick Calvas, Alain Hovnanian

Journal:

Year:

2007

Language:

english

File:

PDF, 333 KB

english, 2007

24

Study of p53 expression and post-transcriptional modifications after GSM-900 radiofrequency exposure of human amniotic cells

Sylvie Bourthoumieu, Amandine Magnaudeix, Faraj Terro, Philippe Leveque, Alice Collin, Catherine Yardin

Journal:

Bioelectromagnetics

Year:

2012

Language:

english

File:

PDF, 213 KB

english, 2012

25

Are all cases of low-grade mosaic trisomy 13 in amniotic fluid with no fetal malformation in fact confined placental mosaicism? A case report

Etoubleau, C., Bourthoumieu, S., Fiorenza, M., Aubard, V., Yardin, C.

Journal:

Year:

2011

File:

PDF, 398 KB

2011

26

EL CIERVO apartado 12121 BARCELONA

F. de BOURTHOUMIEU, JOSE LUIS DE LA VEGA and TOMAS SOBRINO

Journal:

Year:

1981

File:

PDF, 251 KB

1981

27

Monozygotic twins concordant for blood karyotype, but phenotypically discordant: A case of “mosaic chimerism”

Sylvie Bourthoumieu, Catherine Yardin, Faraj Terro, Brigitte Gilbert, Cécile Laroche, Robert Saura, Marie-Claire Vincent, Françoise Esclaire

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 199 KB

english, 2005

28

Familial 18 centromere variant resulting in difficulties in interpreting prenatal interphase FISH

Bourthoumieu, S., Esclaire, F., Terro, F., Brosset, P., Fiorenza, M., Aubard, V., Beguet, M., Yardin, C.

Journal:

Year:

2010

File:

PDF, 400 KB

2010

29

Aneuploidy studies in human cells exposed in vitro to GSM-900 MHz radiofrequency radiation using FISH

Bourthoumieu, Sylvie, Terro, Faraj, Leveque, Philippe, Collin, Alice, Joubert, Vanessa, Yardin, Catherine

Journal:

International Journal of Radiation Biology

Year:

2011

Language:

english

File:

PDF, 368 KB

english, 2011

30

Microwave exposure of neuronal cells in vitro : Study of apoptosis

Joubert, V., Leveque, P., Rametti, A., Collin, A., Bourthoumieu, S., Yardin, C.

Journal:

International Journal of Radiation Biology

Year:

2006

Language:

english

File:

PDF, 678 KB

english, 2006

31

Apoptosis Is Induced by Radiofrequency Fields through the Caspase-Independent Mitochondrial Pathway in Cortical Neurons

Vanessa Joubert, Sylvie Bourthoumieu, Philippe Leveque and Catherine Yardin

Journal:

Radiation Research

Year:

2008

File:

PDF, 3.33 MB

2008

32

[IEEE 2011 XXXth URSI General Assembly and Scientific Symposium - Istanbul (2011.08.13-2011.08.20)] 2011 XXXth URSI General Assembly and Scientific Symposium - Chromosomal studies of human amniotic cells exposed to GSM-900: Karyotyping and FISH

Yardin, C., Bourthoumieu,, Leveque, P., Collin, A.

Year:

2011

Language:

english

File:

PDF, 85 KB

english, 2011

33

EL CIERVO apartado 12121 BARCELONA

Fernando de Bourthoumieu, Manuel Requena Jover, Francisco Natera and Juan Maldonado Eloy-García

Journal:

Year:

1977

File:

PDF, 479 KB

1977

34

Étude des dérivés des crêtes neurales dans un modèle murin d’atrésie intestinale

Ballouhey, Quentin, Richard, Laurence, Fourcade, Laurent, Rhaiem, Ines Ben, Vallat, Jean-Michel, Sturtz, Franck, Bourthoumieu, Sylvie

Journal:

Year:

2017

Language:

french

File:

PDF, 57 KB

french, 2017

35

First prenatally diagnosed case of 16p11.2p12.1 duplication

S. Bourthoumieu, F. Esclaire, F. Terro, M. Fiorenza, V. Aubard, V. Malan, S. Romana, C. Yardin

Journal:

Prenatal Diagnosis

Year:

2008

Language:

english

File:

PDF, 154 KB

english, 2008

36

Table ronde : ondes et rayonnements : effets cellulaires

Bourthoumieu, Sylvie

Journal:

Year:

2007

Language:

french

File:

PDF, 90 KB

french, 2007

37

Innervation cutanée proximale de la jambe par le nerf infrapatellaire

Bourthoumieu, N., Viart, L., Peltier, J., Foulon, P., Page, C., Le Gars, D., Havet, E.

Journal:

Year:

2014

Language:

french

File:

PDF, 146 KB

french, 2014

38

Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome

Laffargue, F., Bourthoumieu, S., Llanas, B., Baudouin, V., Lahoche, A., Morin, D., Bessenay, L., De Parscau, L., Cloarec, S., Delrue, M.-A., Taupiac, E., Dizier, E., Laroche, C., Bahans, C., Yardin, C

Journal:

Archives of Disease in Childhood

Year:

2015

Language:

english

File:

PDF, 1.42 MB

english, 2015

39

Chimerism in twins: Caution is needed in interpretation of karyotypes

Sylvie Bourthoumieu, Francoise Esclaire, Catherine Yardin

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 64 KB

english, 2006

40

Development of a Novel Orthotopic Primary Human Chordoma Xenograft Model: A Relevant Support for Future Research on Chordoma

Salle, Henri, Pocard, Marc, Lehmann-Che, Jacqueline, Bourthoumieu, Sylvie, Labrousse, François, Pimpie, Cynthia, Lemnos, Leslie, Guichard, Jean-Pierre, Froelich, Sebastien, Adle-Biassette, Homa

Journal:

Journal of Neuropathology and Experimental Neurology

Year:

2019

File:

PDF, 2.02 MB

2019

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@1delivery.pm

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски