Lucie Dupuis: search on Z-Library

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1

Mechanisms, models and biomarkers in amyotrophic lateral sclerosis

Turner, Martin R., Bowser, Robert, Bruijn, Lucie, Dupuis, Luc, Ludolph, Albert, McGrath, Michael, Manfredi, Giovanni, Maragakis, Nicholas, Miller, Robert G., Pullman, Seth L., Rutkove, Seward B., Shaw

Journal:

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Year:

2013

Language:

english

File:

PDF, 183 KB

english, 2013

2

16q22.1 microdeletion and anticipatory guidance

Abdullah, Sarah, Helal, Mayada, Dupuis, Lucie, Stavropoulos, D. James, Louro, Pedro, Ramos, Lina, Mendoza‐Londono, Roberto

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 1.10 MB

english, 2019

3

15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes

Noor, Abdul, Dupuis, Lucie, Mittal, Kirti, Lionel, Anath C., Marshall, Christian R., Scherer, Stephen W., Stockley, Tracy, Vincent, John B., Mendoza-Londono, Roberto, Stavropoulos, Dimitri J.

Journal:

Year:

2015

Language:

english

File:

PDF, 387 KB

english, 2015

4

A Randomized Controlled Trial to Improve the Success of Women Assistant Professors

Grisso, Jeane Ann, Sammel, Mary Dupuis, Rubenstein, Arthur H., Speck, Rebecca M., Conant, Emily F., Scott, Patricia, Tuton, Lucy Wolf, Westring, Alyssa Friede, Friedman, Stewart, Abbuhl, Stephanie B.

Journal:

Journal of Women's Health

Year:

2017

Language:

english

File:

PDF, 280 KB

english, 2017

5

Detecting rearrangements in children using subtelomeric FISH and SKY

Blaise Clarkson, Katerina Pavenski, Lucie Dupuis, Shelley Kennedy, Stephen Meyn, Marjan M. Nezarati, Gloria Nie, Rosanna Weksberg, Stephen Withers, Nada Quercia, Ahmad S. Teebi, Ikuko Teshima

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 477 KB

english, 2002

6

Smith–Magenis syndrome and moyamoya disease in a patient with del(17)(p11.2p13.1)

Santhosh Girirajan, Roberto Mendoza-Londono, Christopher N. Vlangos, Lucie Dupuis, Norma J. Nowak, David J. Bunyan, Eli Hatchwell, Sarah H. Elsea

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 283 KB

english, 2007

7

A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: Implications for molecular diagnostics and disease mechanism

Tracy L. Stockley, Roberto Mendoza-Londono, Evan J. Propst, Sandi Sodhi, Lucie Dupuis, Blake C. Papsin

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 94 KB

english, 2009

8

Increased megakaryopoiesis in cultures of CD34-enriched cord blood cells maintained at 39°C

Chantal Proulx, Nicolas Dupuis, Isabelle St-Amour, Lucie Boyer, Réal Lemieux

Journal:

Biotechnology and Bioengineering

Year:

2004

Language:

english

File:

PDF, 518 KB

english, 2004

9

Neurofibromatosis Type I as a Model of Autosomal Dominant Inheritance

Lucie Dupuis, Marjan M. Nezarati

Journal:

Pediatric Dermatology

Year:

2001

Language:

english

File:

PDF, 132 KB

english, 2001

10

Alopecia congenita universalis, microcephaly, cutis marmorata, short stature and XY gonadal dysgenesis: variable expression of El-Shanti syndrome

AhmadS. Teebi, Lucie Dupuis, Diane Wherrett, Anthony Khoury, KennethJ. Zucker

Journal:

European Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 165 KB

english, 2004

11

Extracellular matrix and platelet function in patients with musculocontractural Ehlers–Danlos syndrome caused by mutations in the CHST14 gene

Roberto Mendoza-Londono, David Chitayat, Walter H.A. Kahr, Aleksander Hinek, Susan Blaser, Lucie Dupuis, Elaine Goh, Ramses Badilla-Porras, Andrew Howard, Laureane Mittaz, Andrea Superti-Furga, Sheila

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 1.42 MB

english, 2012

12

A Caffeine/Ryanodine-sensitive Ca2+ Pool Is Involved in Triggering Spontaneous Variations of Ca2+ in Jurkat T Lymphocytes by a Ca2+-induced Ca2+ Release (CICR) Mechanism

Isabelle Ricard, Julie Martel, Lucie Dupuis, Gilles Dupuis, Marcel D Payet

Journal:

Cellular Signalling

Year:

1997

Language:

english

File:

PDF, 458 KB

english, 1997

13

Osteopathia striata with cranial sclerosis and developmental delay in a male with a mosaic deletion in chromosome region Xq11.2

Sébastien Chénier, Abdul Noor, Lucie Dupuis, Dimitri J Stavropoulos, Roberto Mendoza-Londono

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 259 KB

english, 2012

14

Mechanism of Biotin Responsiveness in Biotin-Responsive Multiple Carboxylase Deficiency

Lucie Dupuis, Eric Campeau, Daniel Leclerc, Roy A. Gravel

Journal:

Molecular Genetics and Metabolism

Year:

1999

Language:

english

File:

PDF, 253 KB

english, 1999

15

Coding Sequence Mutations in the Alpha Subunit of Propionyl-CoA Carboxylase in Patients with Propionic Acidemia

Eric Campeau, Lucie Dupuis, Alfonso León-Del-Rio, Roy Gravel

Journal:

Molecular Genetics and Metabolism

Year:

1999

Language:

english

File:

PDF, 244 KB

english, 1999

16

Les transformations du travail et de l'entreprise : qu'attendre des politiques publiques?

Stéphanie Bernstein, Urwana Coiquaud, Marie-Josée Dupuis, Laurence Léa Fontaine, Lucie Morissette, Esther Paquet, Guylaine Vallée

Journal:

Canadian Public Administration

Year:

2009

File:

PDF, 168 KB

2009

17

Hormonal regulation of glucose transport in contracting skeletal muscle from normal and diabetic rats

Jean-Louis Chiasson, Lucie Germain, Ashok K. Srivastava, Pierre Dupuis

Journal:

Year:

1984

Language:

english

File:

PDF, 526 KB

english, 1984

18

Purification and identification of multiple forms of dynorphin in human placenta

Simon Lemaire, Annie Valette, Lucie Chouinard, Nancy Dupuis, Robert Day, Gilberte Porthé, Jean Cros

Journal:

Year:

1983

Language:

english

File:

PDF, 719 KB

english, 1983

19

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

Mullegama, Sureni V, Rosenfeld, Jill A, Orellana, Carmen, van Bon, Bregje W M, Halbach, Sara, Repnikova, Elena A, Brick, Lauren, Li, Chumei, Dupuis, Lucie, Rosello, Monica, Aradhya, Swaroop, Stavropou

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 681 KB

english, 2014

20

Genotype–phenotype correlation in Smith-Magenis syndrome: Evidence that multiple genes in 17p11.2 contribute to the clinical spectrum

Girirajan, Santhosh, Vlangos, Christopher N, Szomju, Barbara B, Edelman, Emily, Trevors, Christopher D, Dupuis, Lucie, Nezarati, Marjan, Bunyan, David J, Elsea, Sarah H

Journal:

Genetics in Medicine

Year:

2006

Language:

english

File:

PDF, 1.56 MB

english, 2006

21

The Collagenopathies: Review of Clinical Phenotypes and Molecular Correlations

Jobling, Rebekah, D’Souza, Rohan, Baker, Naomi, Lara-Corrales, Irene, Mendoza-Londono, Roberto, Dupuis, Lucie, Savarirayan, Ravi, Ala-Kokko, L., Kannu, Peter

Journal:

Current Rheumatology Reports

Year:

2014

Language:

english

File:

PDF, 422 KB

english, 2014

22

Influence of the Catalyst Type on the Growth of Carbon Nanotubes via Methane Chemical Vapor Deposition

Jodin, Lucie, Dupuis, Anne-Claire, Rouvière, Emmanuelle, Reiss, Peter

Journal:

Journal of Physical Chemistry B

Year:

2006

Language:

english

File:

PDF, 619 KB

english, 2006

23

Clinical characteristics in patients with interstitial deletions of chromosome region 12q21-q22 and identification of a critical region associated with keratosis pilaris

Al-Maawali, Almundher, Marshall, Christian R., Scherer, Stephen W., Dupuis, Lucie, Mendoza-Londono, Roberto, Stavropoulos, Dimitri J.

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 439 KB

english, 2014

24

PET/CT before autologous stem cell transplantation predicts outcome in refractory/relapsed follicular lymphoma

Alcantara, Marion, Dupuis, Jehan, Mareschal, Sylvain, Julian, Anne, Cottereau, Anne Ségolène, Becker, Stéphanie, Dubois, Sydney, Oberic, Lucie, Huynh, Anne, Meignan, Michel, Laurent, Guy, Tilly, Hervé

Journal:

European Journal of Nuclear Medicine and Molecular Imaging

Year:

2015

Language:

english

File:

PDF, 536 KB

english, 2015

25

Recessive Osteogenesis Imperfecta Caused by Missense Mutations in SPARC

Mendoza-Londono, Roberto, Fahiminiya, Somayyeh, Majewski, Jacek, Tétreault, Martine, Nadaf, Javad, Kannu, Peter, Sochett, Etienne, Howard, Andrew, Stimec, Jennifer, Dupuis, Lucie, Roschger, Paul, Klau

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.43 MB

english, 2015

26

Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders

Al-Maawali, Almundher, Dupuis, Lucie, Blaser, Susan, Heon, Elise, Tarnopolsky, Mark, Al-Murshedi, Fathiya, Marshall, Christian R, Paton, Tara, Scherer, Stephen W, Roelofsen, Jeroen, van Kuilenburg, An

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.32 MB

english, 2015

27

Severe intellectual disability and autistic features associated with microduplication 2q23.1

Chung, Brian HY, Mullegama, Sureni, Marshall, Christian R, Lionel, Anath C, Weksberg, Rosanna, Dupuis, Lucie, Brick, Lauren, Li, Chumei, Scherer, Stephen W, Aradhya, Swaroop, Stavropoulos, D James, El

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 405 KB

english, 2012

28

Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations

Faden, Maha, AlZahrani, Fatema, Mendoza-Londono, Roberto, Dupuis, Lucie, Hartley, Taila, Kannu, Peter, Raiman, Julian A., Howard, Andrew, Qin, Wen, Tetreault, Martine, Xi, Joan Qiongchao, Al-Thamer, I

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 2.37 MB

english, 2015

29

Relative associations between depression and anxiety on adverse cardiovascular events: does a history of coronary artery disease matter? A prospective observational study

Pelletier, Roxanne, Bacon, Simon L, Arsenault, André, Dupuis, Jocelyn, Laurin, Catherine, Blais, Lucie, Lavoie, Kim L

Journal:

Year:

2015

Language:

english

File:

PDF, 994 KB

english, 2015

30

A Culture Conducive to Women’s Academic Success

Westring, Alyssa Friede, Speck, Rebecca M., Sammel, Mary Dupuis, Scott, Patricia, Tuton, Lucy Wolf, Grisso, Jeane Ann, Abbuhl, Stephanie

Journal:

Academic Medicine

Year:

2012

Language:

english

File:

PDF, 185 KB

english, 2012

31

Culture Matters

Westring, Alyssa Friede, Speck, Rebecca M., Dupuis Sammel, Mary, Scott, Patricia, Conant, Emily F., Tuton, Lucy Wolf, Abbuhl, Stephanie B., Grisso, Jeane Ann

Journal:

Academic Medicine

Year:

2014

Language:

english

File:

PDF, 330 KB

english, 2014

32

382. Osteopetrosis: An Unusual Presentation of a Rare Disease as a Candidate for Gene Therapy

O'Brien, Alan, Krueger, Joerg, Dupuis, Lucie, Voronov, Irina, Kannu, Peter, Cohn, Ronald D., Mendoza-Londono, Roberto

Journal:

Molecular Therapy

Year:

2015

Language:

english

File:

PDF, 299 KB

english, 2015

33

Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X

Deshwar, Ashish R., Dupuis, Lucie, Bergmann, Carsten, Stavropoulos, James, Mendoza-Londono, Roberto

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 697 KB

english, 2017

34

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

Costain, Gregory, Jobling, Rebekah, Walker, Susan, Reuter, Miriam S., Snell, Meaghan, Bowdin, Sarah, Cohn, Ronald D., Dupuis, Lucie, Hewson, Stacy, Mercimek-Andrews, Saadet, Shuman, Cheryl, Sondheimer

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 434 KB

english, 2018

35

MG-109 Revisiting a clinical diagnosis 15 years later with the aid of whole exome sequencing: Osteopetrosis versus harderophorphyria

Mendoza, Roberto, Dupuis, Lucie, Kannu, Peter, Hartley, Taila, Bareke, Eric, Boycott, Kym

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 57 KB

english, 2015

36

Study of the Effects of Betaine and/or C-Phycocyanin on the Growth of Lung Cancer A549 Cells In Vitro and In Vivo

Bingula, Rea, Dupuis, Carmen, Pichon, Chantal, Berthon, Jean-Yves, Filaire, Marc, Pigeon, Lucie, Filaire, Edith

Journal:

Journal of Oncology

Year:

2016

Language:

english

File:

PDF, 2.03 MB

english, 2016

37

Differential Nanoscale Topography and Functional Role of GluN2-NMDA Receptor Subtypes at Glutamatergic Synapses

Kellermayer, Blanka, Ferreira, Joana S., Dupuis, Julien, Levet, Florian, Grillo-Bosch, Dolors, Bard, Lucie, Linarès-Loyez, Jeanne, Bouchet, Delphine, Choquet, Daniel, Rusakov, Dmitri A., Bon, Pierre,

Journal:

Year:

2018

Language:

english

File:

PDF, 4.58 MB

english, 2018

38

Novel c.G630A TCIRG1 mutation causes aberrant splicing resulting in an unusually mild form of autosomal recessive osteopetrosis

Zirngibl, Ralph A., Wang, Andrew, Yao, Yeqi, Manolson, Morris F., Krueger, Joerg, Dupuis, Lucie, Mendoza‐Londono, Roberto, Voronov, Irina

Journal:

Journal of Cellular Biochemistry

Year:

2019

Language:

english

File:

PDF, 9.73 MB

english, 2019

39

Novel c.G630A TCIRG1 mutation causes aberrant splicing resulting in an unusually mild form of autosomal recessive osteopetrosis

Zirngibl, Ralph A., Wang, Andrew, Yao, Yeqi, Manolson, Morris F., Krueger, Joerg, Dupuis, Lucie, Mendoza‐Londono, Roberto, Voronov, Irina

Journal:

Journal of Cellular Biochemistry

Year:

2019

File:

PDF, 9.73 MB

2019

40

Use of a serious game to strengthen medication adherence in euthymic patients with bipolar disorder following a psychoeducational programme: a randomized controlled trial.

Maurin, Kathlyne Dupuis, Girod, Chloé, Consolini, Julia Lou, Belzeaux, Raoul, Etain, Bruno, Cochet, Barbara, Leboyer, Marion, Genty, Catherine, Gamon, Lucie, Picot, Marie Christine, Courtet, Philippe,

Journal:

Journal of Affective Disorders

Year:

2019

Language:

english

File:

PDF, 1.01 MB

english, 2019

41

Semaphorin 7A: a novel marker of disease activity in Gaucher disease

Franco, MÃ©lanie, Reihani, Nelly, Dupuis, Lucie, Collec, Emmanuel, Villemeur, Thierry Billette, Person, Marine, Moussa, Fathi, Berger, Marc G., Belmatoug, Nadia, Le Van Kim, Caroline

Journal:

American Journal of Hematology

Year:

2020

Language:

english

File:

PDF, 1.62 MB

english, 2020

42

A measurement scale to assess responsive feeding among Cambodian young children

Sall, NdÃ¨ye S., BÃ©gin, France, Dupuis, JÃ©rÃ©mie B., Bourque, Jimmy, Menasria, Lylia, Main, Barbara, Vong, Lenin, Hun, Vannary, Raminashvili, David, Chea, Chhorvann, Chiasson, Lucie, Blaney, Sonia

Journal:

Maternal & Child Nutrition

Year:

2020

File:

PDF, 456 KB

2020

43

[IEEE 2019 IEEE Industry Applications Society Annual Meeting - Baltimore, MD, USA (2019.9.29-2019.10.3)] 2019 IEEE Industry Applications Society Annual Meeting - Brightness Matching Experiments with Pulsed Light: Experiment Design

Kukacka, Leos, Mach, Ondrej, Schreiber, Richard, Chmelarova, Michaela, Florianova, Lucie, Mazac, Martin, Dupuis, Pascal

Year:

2019

Language:

english

File:

PDF, 2.02 MB

english, 2019

44

A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism

Monin, Pauline, Reynaud, Nicolas, Hanna, Nadine, Dupuis-Girod, Sophie, Till, Marianne, Arnaud, Pauline, Labalme, Audrey, Alix, Eudeline, Poizat-Amar, Coline, Faoucher, Marie, Ravella, Lucie, Debost, B

Journal:

Cytogenetic and Genome Research

Year:

2020

Language:

english

File:

PDF, 985 KB

english, 2020

45

Effects of sphingolipids overload on red blood cell properties in Gaucher disease

Dupuis, Lucie, Chipeaux, Caroline, Bourdelier, Emmanuelle, Martino, Suella, Reihani, Nelly, Belmatoug, Nadia, Billette de Villemeur, Thierry, Hivert, BÃ©nÃ©dicte, Moussa, Fathi, Le Van Kim, Caroline,

Journal:

Journal of Cellular and Molecular Medicine

Year:

2020

File:

PDF, 823 KB

2020

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