Valérie Drouin: search on Z-Library

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1

Townes-Brocks syndrome: Detection of a SALL1 mutation hot spot and evidence for a position effect in one patient

Sandrine Marlin, Stéphane Blanchard, Rima Slim, Didier Lacombe, Françoise Denoyelle, Jean-Louis Alessandri, Elisa Calzolari, Valérie Drouin-Garraud, F.G. Ferraz, Alain Fourmaintraux, Nicole Philip, Je

Journal:

Year:

1999

Language:

english

File:

PDF, 2.18 MB

english, 1999

2

Molecular characterization of a 14q deletion in a boy with features of Holt–Oram syndrome

Nathalie Le Meur, Alice Goldenberg, Christine Michel-Adde, Valérie Drouin-Garraud, Gérard Blaysat, Stéphane Marret, Saad Abu Amara, Hélène Moirot, Géraldine Joly-Hélas, Bertrand Mace, Pascale Kleinfin

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 145 KB

english, 2005

3

Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome

Pascale Saugier-Veber, Céline Bonnet, Alexandra Afenjar, Valérie Drouin-Garraud, Christine Coubes, Séverine Fehrenbach, Muriel Holder-Espinasse, Joëlle Roume, Valérie Malan, Marie-France Portnoi, Nico

Journal:

Year:

2007

Language:

english

File:

PDF, 354 KB

english, 2007

4

Implantable cardioverter-defibrillators in lamin A/C mutation carriers with cardiac conduction disorders

Anselme, Frédéric, Moubarak, Ghassan, Savouré, Arnaud, Godin, Bénédicte, Borz, Bogdan, Drouin-Garraud, Valérie, Gay, Arnaud

Journal:

Year:

2013

Language:

english

File:

PDF, 381 KB

english, 2013

5

Clinical Outcomes of Pulmonary Arterial Hypertension in Patients Carrying an ACVRL1 ( ALK1 ) Mutation

Girerd, Barbara, Montani, David, Coulet, Florence, Sztrymf, Benjamin, Yaici, Azzeddine, Jaïs, Xavier, Tregouet, David, Reis, Abilio, Drouin-Garraud, Valérie, Fraisse, Alain, Sitbon, Olivier, O'Callagh

Journal:

American Journal of Respiratory and Critical Care Medicine

Year:

2010

Language:

english

File:

PDF, 431 KB

english, 2010

6

Physical Activity and Sedentary Behaviors in Childhood Acute Lymphoblastic Leukemia Survivors

Lemay, Valérie, Caru, Maxime, Samoilenko, Mariia, Drouin, Simon, Mathieu, Marie-Eve, Bertout, Laurence, Lefebvre, Geneviève, Raboisson, Marie-Josée, Krajinovic, Maja, Laverdière, Caroline, Andelfinger

Journal:

Journal of Pediatric Hematology/Oncology

Year:

2020

File:

PDF, 150 KB

2020

7

Neurological presentation of a congenital disorder of glycosylation CDG-Ia: Implications for diagnosis and genetic counseling

Valérie Drouin-Garraud, Mathilde Belgrand, Stéphanie Grünewald, Nathalie Seta, Jean-Nicolas Dacher, Alain Hénocq, Gert Matthijs, Valérie Cormier-Daire, Thierry Frébourg, Pascale Saugier-Veber

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 76 KB

english, 2001

8

Giant diencephalic harmartoma and related anomalies: A newly recognized entity distinct from the Pallister–Hall syndrome

Fabien Guimiot, Pascale Marcorelles, Azzedine Aboura, Georges Bonyhay, Sophie Patrier, Françoise Menez, Valérie Drouin-Garraud, Valentine Icowick, Danièle Eurin, Catherine Garel, Hélène Moirot, Eric V

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 235 KB

english, 2009

9

Near-haploid karyotype in a squamous cell lung carcinoma

Valérie Drouin, Franck Viguié, Bernard Debesse

Journal:

Genes, Chromosomes and Cancer

Year:

1993

Language:

english

File:

PDF, 337 KB

english, 1993

10

Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains

Philippe Khau Van Kien, David Baux, Nathalie Pallares-Ruiz, Corinne Baudoin, Aurélie Plancke, Nicolas Chassaing, Patrick Collignon, Valérie Drouin-Garraud, Alain Hovnanian, Dominique Martin-Coignard,

Journal:

Year:

2010

Language:

english

File:

PDF, 487 KB

english, 2010

11

Type I hyperprolinemia: genotype/phenotype correlations

Audrey Guilmatre, Solenn Legallic, Gary Steel, Alecia Willis, Gabriella Di Rosa, Alice Goldenberg, Valérie Drouin-Garraud, Agnès Guet, Cyril Mignot, Vincent Des Portes, Vassili Valayannopoulos, Lionel

Journal:

Year:

2010

Language:

english

File:

PDF, 149 KB

english, 2010

12

Spectrum of PTCH1 Mutations in French Patients with Gorlin Syndrome

Boutet, Nathalie, Bignon, Yves-Jean, Drouin-Garraud, Valérie, Sarda, Pierre, Longy, Michel, Lacombe, Didier, Gorry, Philippe

Journal:

The Journal of Investigative Dermatology

Year:

2003

Language:

english

File:

PDF, 208 KB

english, 2003

13

Two dimensional gel electrophoresis of apolipoprotein C-III and MALDI-TOF MS are complementary techniques for the study of combined defects in N- and mucin type O-glycan biosynthesis

Arnaud Bruneel, Willy Morelle, Yoann Carre, Florence Habarou, Damien Dupont, Aurélie Hesbert, Geneviève Durand, Jean Claude Michalski, Valérie Drouin-Garraud, Nathalie Seta

Journal:

PROTEOMICS - Clinical Applications

Year:

2008

Language:

english

File:

PDF, 338 KB

english, 2008

14

Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation

Saugier-Veber, Pascale, Goldenberg, Alice, Drouin-Garraud, Valérie, de La Rochebrochard, Céline, Layet, Valérie, Drouot, Nathalie, Le Meur, Nathalie, Gilbert-Du-ssardier, Brigitte, Joly-Hélas, Géraldi

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 326 KB

english, 2006

15

Synthesis, Photophysical, and Two-Photon Absorption Properties of Elongated Phosphane Oxide and Sulfide Derivatives

Dr. Valérie Alain-Rizzo, Delphine Drouin-Kucma, Cédric Rouxel, Dr. Issa Samb, Jérémy Bell, Dr. Patrick Y. Toullec, Dr. Véronique Michelet, Dr. Isabelle Leray, Dr. Mireille Blanchard-Desce

Journal:

Chemistry – An Asian Journal

Year:

2011

Language:

english

File:

PDF, 402 KB

english, 2011

16

Chromosome abnormalities in non small cell lung carcinoma

Franck Viguié, Valérie Drouin, Jeanne Marie Bréchot, Frédérique Capron, Sylvie Ramond, Bernard Debesse, Jacques Rochemaure

Journal:

Cancer Genetics and Cytogenetics

Year:

1994

Language:

english

File:

PDF, 85 KB

english, 1994

17

Prenatal revelation of Niemann–Pick disease type C in siblings

Rubén Moreno, Caroline Lardennois, Valérie Drouin-Garraud, Eric Verspyck, Stéphane Marret, Annie Laquerrière

Journal:

Acta Paediatrica

Year:

2008

Language:

english

File:

PDF, 552 KB

english, 2008

18

Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct

Laurence Jonard, Magali Niasme-Grare, Crystel Bonnet, Delphine Feldmann, Isabelle Rouillon, Natalie Loundon, Catherine Calais, Hélène Catros, Albert David, Hélène Dollfus, Valérie Drouin-Garraud, Fran

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

2010

Language:

english

File:

PDF, 158 KB

english, 2010

19

Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: Identification of novel mutations

Laure Raymond, Bertrand Diebold, Céline Leroux, Hélène Maurey, Valérie Drouin-Garraud, Andre Delahaye, Olivier Dulac, Julia Metreau, Gia Melikishvili, Annick Toutain, François Rivier, Nadia Bahi-Buiss

Journal:

Year:

2013

Language:

english

File:

PDF, 539 KB

english, 2013

20

752 GENETIC VARIABILITY WITHIN 8Q24 IS ASSOCIATED WITH AGGRESSIVENESS OF ADVANCED PROSTATE CANCER SUITABLE FOR HORMONOTHERAPY

S.J. Drouin, M. Roupret, M.O. Bitker, A.R. Azzouzi, S. Mallick, S. Vincendeau, P. Mangin, A. Valeri, L. Guy, A. Ruffion, F. Grima, P. Sebe, G. Cancel-Tassin, O. Cussenot

Journal:

European Urology Supplements

Year:

2010

Language:

english

File:

PDF, 81 KB

english, 2010

21

Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly

Grotto, Sarah, Drouin-Garraud, Valérie, Õunap, Katrin, Puusepp-Benazzouz, Helen, Schuurs-Hoeijmakers, Janneke, Le Meur, Nathalie, Chambon, Pascal, Fehrenbach, Séverine, van Bokhoven, Hans, Frébourg, T

Journal:

European Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 1.31 MB

english, 2014

22

Un cas de syndrome cardio-faciocutané avec neuropathie

Bouwyn, Jean-Paul, Delangre, Thierry, Drouin-Garraud, Valérie, Guyant-Marechal, Lucie

Journal:

Revue Neurologique

Year:

2012

Language:

french

File:

PDF, 78 KB

french, 2012

23

Congenital Cytomegalovirus Is the Second Most Frequent Cause of Bilateral Hearing Loss in Young French Children

Avettand-Fenoël, Véronique, Marlin, Sandrine, Vauloup-Fellous, Christelle, Loundon, Natalie, François, Martine, Couloigner, Vincent, Rouillon, Isabelle, Drouin-Garraud, Valérie, Laccourreye, Laurence,

Journal:

The Journal of Pediatrics

Year:

2013

Language:

english

File:

PDF, 239 KB

english, 2013

24

91 HIGH ACTIVITY POLYMORPHISM WITHIN DIHYDROTESTOSTERONE SYNTHESIS ENHANCES AGGRESSIVENESS OF ADVANCED PROSTATE CANCER FOR PATIENTS CARRYING THE 8Q24 PROSTATE CANCER SUSCEPTIBILITY GENOTYPES

Drouin, Sarah, Roupret, Morgan, Bitker, Marc Olivier, Azzouzi, Abdel-Rahmene, Mallick, Stephane, Vincendeau, Sébastien, Mangin, Philippe, Valeri, Antoine, Guy, Laurent, Ruffion, Alain, Grima, Francois

Journal:

The Journal of Urology

Year:

2010

Language:

english

File:

PDF, 46 KB

english, 2010

25

Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans

de Pontual, Loïc, Yao, Evelyn, Callier, Patrick, Faivre, Laurence, Drouin, Valérie, Cariou, Sandra, Van Haeringen, Arie, Geneviève, David, Goldenberg, Alice, Oufadem, Myriam, Manouvrier, Sylvie, Munni

Journal:

Nature Genetics

Year:

2011

Language:

english

File:

PDF, 736 KB

english, 2011

26

Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes

Léger, Sandy, Balguerie, Xavier, Goldenberg, Alice, Drouin-Garraud, Valérie, Cabot, Annick, Amstutz-Montadert, Isabelle, Young, Paul, Joly, Pascal, Bodereau, Virginie, Holder-Espinasse, Muriel, Jamies

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 238 KB

english, 2012

27

Recurrent Rearrangements in Synaptic and Neurodevelopmental Genes and Shared Biologic Pathways in Schizophrenia, Autism, and Mental Retardation

Guilmatre, Audrey, Dubourg, Christèle, Mosca, Anne-Laure, Legallic, Solenn, Goldenberg, Alice, Drouin-Garraud, Valérie, Layet, Valérie, Rosier, Antoine, Briault, Sylvain, Bonnet-Brilhault, Frédérique,

Journal:

Archives of General Psychiatry

Year:

2009

Language:

english

File:

PDF, 121 KB

english, 2009

28

SPIE Proceedings [SPIE International Symposium on Optical Science and Technology - San Diego, CA (Sunday 29 July 2001)] Engineering Thin Films with Ion Beams, Nanoscale Diagnostics, and Molecular Manufacturing - Low-energy ion implantation-induced control of InP-based heterostructure properties

Aimez, Vincent, Beauvais, Jacques, Drouin, Dominique, Beerens, Jean, Morris, Denis, Jandl, Serge, Knystautas, Emile J., Kirk, Wiley P., Browning, Valerie

Year:

2001

Language:

english

File:

PDF, 401 KB

english, 2001

29

Congenital Cytomegalovirus Is the Second Most Frequent Cause of Bilateral Hearing Loss in Young French Children

Avettand-Fenoël, Véronique, Marlin, Sandrine, Vauloup-Fellous, Christelle, Loundon, Natalie, François, Martine, Couloigner, Vincent, Rouillon, Isabelle, Drouin-Garraud, Valérie, Laccourreye, Laurence,

Journal:

Obstetric and Gynecologic Survey

Year:

2013

Language:

english

File:

PDF, 298 KB

english, 2013

30

Correlation between prostate volume and single nucleotide polymorphisms implicated in the steroid pathway

Cornu, Jean-Nicolas, Audet-Walsh, Etienne, Drouin, Sarah, Bigot, Pierre, Valeri, Antoine, Fournier, Georges, Azzouzi, Abdel-Rahmène, Roupret, Morgan, Cormier, Luc, Chanock, Stephen, Guillemette, Chant

Journal:

World Journal of Urology

Year:

2017

Language:

english

File:

PDF, 432 KB

english, 2017

31

Building Men's Engagement in Intimate Partner Violence Groups

Roy, Valérie, Châteauvert, Joanie, Drouin, Marie-Eve, Richard, Marie-Claude

Journal:

Year:

2014

Language:

english

File:

PDF, 127 KB

english, 2014

32

Ezetimibe increases intestinal expression of the LDL receptor gene in dyslipidaemic men with insulin resistance

Drouin-Chartier, Jean-Philippe, Tremblay, André J., Lemelin, Valéry, Lépine, Marie-Claude, Lamarche, Benoît, Couture, Patrick

Journal:

Diabetes, Obesity and Metabolism

Year:

2016

Language:

english

File:

PDF, 1.72 MB

english, 2016

33

RecurrentKIF2Amutations are responsible for classic lissencephaly

Cavallin, Mara, Bijlsma, Emilia K., El Morjani, Adrienne, Moutton, Sébastien, Peeters, Els A. J., Maillard, Camille, Pedespan, Jean Michel, Guerrot, Anne-Marie, Drouin-Garaud, Valérie, Coubes, Christi

Journal:

Year:

2017

Language:

english

File:

PDF, 4.85 MB

english, 2017

34

Combined Action of Histone Reader Modules Regulates NuA4 Local Acetyltransferase Function but Not Its Recruitment on the Genome

Steunou, Anne-Lise, Cramet, Myriam, Rossetto, Dorine, Aristizabal, Maria J., Lacoste, Nicolas, Drouin, Simon, Côté, Valérie, Paquet, Eric, Utley, Rhea T., Krogan, Nevan, Robert, François, Kobor, Micha

Journal:

Molecular and Cellular Biology

Year:

2016

Language:

english

File:

PDF, 2.37 MB

english, 2016

35

Substitution of dietary ω-6 polyunsaturated fatty acids for saturated fatty acids decreases LDL apolipoprotein B-100 production rate in men with dyslipidemia associated with insulin resistance: a randomized controlled trial

Drouin-Chartier, Jean-Philippe, Tremblay, André J, Lépine, Marie-Claude, Lemelin, Valéry, Lamarche, Benoît, Couture, Patrick

Journal:

American Journal of Clinical Nutrition

Year:

2018

Language:

english

File:

PDF, 695 KB

english, 2018

36

Insight from Mitochondrial Functions and Proteomics to Understand Cardiometabolic Disorders in Survivors of Acute Lymphoblastic Leukemia

Leahy, Jade, Spahis, Schohraya, Bonneil, Eric, Garofalo, Carole, Grimard, Guy, Morel, Sophia, Laverdière, Caroline, Krajinovic, Maja, Drouin, Simon, Delvin, Edgard, Sinnett, Daniel, Marcil, Valérie, L

Journal:

Year:

2018

Language:

english

File:

PDF, 3.06 MB

english, 2018

37

Dilated Cardiomyopathy and Premature Ovarian Failure Unveiling Propionic Aciduria

Grotto, Sarah, Sudrié-Arnaud, Bénédicte, Drouin-Garraud, Valérie, Nafeh-Bizet, Catherine, Chadefaux-Vekemans, Bernadette, Gobin, Stéphanie, Bekri, Soumeya, Tebani, Abdellah

Journal:

Clinical Chemistry

Year:

2018

Language:

english

File:

PDF, 1.11 MB

english, 2018

38

Genomic determinants of long-term cardiometabolic complications in childhood acute lymphoblastic leukemia survivors

England, Jade, Drouin, Simon, Beaulieu, Patrick, St-Onge, Pascal, Krajinovic, Maja, Laverdière, Caroline, Levy, Emile, Marcil, Valérie, Sinnett, Daniel

Journal:

Year:

2017

Language:

english

File:

PDF, 807 KB

english, 2017

39

Complementarity of electrophoretic, mass spectrometric and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation

Bruneel, Arnaud, Cholet, Sophie, Drouin-Garraud, Valérie, Jacquemont, Marie-Line, Cano, Aline, Mégarbané, André, Ruel, Coralie, Cheillan, David, Dupré, Thierry, Vuillaumier-Barrot, Sandrine, Seta, Nat

Journal:

ELECTROPHORESIS

Year:

2018

Language:

english

File:

PDF, 1.12 MB

english, 2018

40

Plasma PCSK9 correlates with apoB-48-containing TG-rich lipoprotein production in men with insulin resistance

Drouin-Chartier, Jean-Philippe, Tremblay, Andre J., Hogue, Jean-Charles, Lemelin, Valery, Lamarche, Benoit, Couture, Patrick

Journal:

The Journal of Lipid Research

Year:

2018

Language:

english

File:

PDF, 923 KB

english, 2018

41

Differential associations between plasma concentrations of insulin and glucose and intestinal expression of key genes involved in chylomicron metabolism

Drouin-Chartier, Jean-Philippe, Tremblay, André J, Lemelin, Valéry, Lamarche, Benoît, Couture, Patrick

Journal:

American Journal of Physiology - Gastrointestinal and Liver Physiology

Year:

2018

Language:

english

File:

PDF, 518 KB

english, 2018

42

Doxorubicin treatments induce significant changes on the cardiac autonomic nervous system in childhood acute lymphoblastic leukemia long-term survivors

Caru, Maxime, Corbin, Denis, Périé, Delphine, Lemay, Valérie, Delfrate, Jacques, Drouin, Simon, Bertout, Laurence, Krajinovic, Maja, Laverdière, Caroline, Andelfinger, Gregor, Sinnett, Daniel, Curnier

Journal:

Clinical Research in Cardiology

Year:

2019

Language:

english

File:

PDF, 659 KB

english, 2019

43

Pituitary cell translation and secretory capacities are enhanced cell autonomously by the transcription factor Creb3l2

Khetchoumian, Konstantin, Balsalobre, Aurélio, Mayran, Alexandre, Christian, Helen, Chénard, Valérie, St-Pierre, Julie, Drouin, Jacques

Journal:

Nature Communications

Year:

2019

Language:

english

File:

PDF, 2.58 MB

english, 2019

44

The VIE study: feasibility of a physical activity intervention in a multidisciplinary program in children with cancer

Caru, Maxime, Duhamel, Gabrielle, Marcil, Valérie, Sultan, Serge, Meloche, Caroline, Bouchard, Isabelle, Drouin, Simon, Bertout, Laurence, Laverdiere, Caroline, Sinnett, Daniel, Curnier, Daniel

Journal:

Supportive Care in Cancer

Year:

2019

Language:

english

File:

PDF, 316 KB

english, 2019

45

The VIE study: feasibility of a physical activity intervention in a multidisciplinary program in children with cancer

Caru, Maxime, Duhamel, Gabrielle, Marcil, Valérie, Sultan, Serge, Meloche, Caroline, Bouchard, Isabelle, Drouin, Simon, Bertout, Laurence, Laverdiere, Caroline, Sinnett, Daniel, Curnier, Daniel

Journal:

Supportive Care in Cancer

Year:

2019

File:

PDF, 316 KB

2019

46

Preventive Action Of Cardiorespiratory Fitness On Health Outcomes In Childhood Acute Lymphoblastic Leukemia Survivors

Caru, Maxime, Lemay, Valérie, Samoilenko, Mariia, Drouin, Simon, Alos, Nathalie, Lefebvre, Geneviève, Levy, Emile, Lippé, Sarah, Marcil, Valérie, Sultan, Serge, Bertout, Laurence, Krajinovic, Maja, La

Journal:

Medicine & Science in Sports & Exercise

Year:

2019

File:

PDF, 554 KB

2019

47

Trainability Genes Provide Answers To The Cardiorespiratory Fitness Deficit In Childhood Acute Lymphoblastic Leukemia Survivors.

Caru, Maxime, Petrykey, Kateryna, Samoilenko, Mariia, Drouin, Simon, Lemay, Valérie, Kern, Laurence, Romo, Lucia, Beaulieu, Patrick, St-Onge, Pascal, Bertout, Laurence, Lefebvre, Geneviève, Leverdiere

Journal:

Medicine & Science in Sports & Exercise

Year:

2019

File:

PDF, 368 KB

2019

48

Prevention of Long-term Adverse Health Outcomes With Cardiorespiratory Fitness and Physical Activity in Childhood Acute Lymphoblastic Leukemia Survivors

Lemay, Valérie, Caru, Maxime, Samoilenko, Mariia, Drouin, Simon, Alos, Nathalie, Lefebvre, Geneviève, Levy, Emile, Lippé, Sarah, Marcil, Valérie, Sultan, Serge, Bertout, Laurence, Krajinovic, Maja, La

Journal:

Journal of Pediatric Hematology/Oncology

Year:

2019

File:

PDF, 166 KB

2019

49

Maximal cardiopulmonary exercise testing in childhood acute lymphoblastic leukemia survivors exposed to chemotherapy

Caru, Maxime, LaverdiÃ¨re, Caroline, Lemay, Valerie, Drouin, Simon, Bertout, Laurence, Krajinovic, Maja, Andelfinger, Gregor, Sinnett, Daniel, Curnier, Daniel

Journal:

Supportive Care in Cancer

Year:

2020

File:

PDF, 598 KB

2020

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