Julie Désir: search on Z-Library

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1

A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia

Stange, Katja, Désir, Julie, Kakar, Naseebullah, Mueller, Thomas D., Budde, Birgit S., Gordon, Christopher T., Horn, Denise, Seemann, Petra, Borck, Guntram

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 1.80 MB

english, 2015

2

Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome)

Julie Desir, Marc Abramowicz

Journal:

Orphanet Journal of Rare Diseases

Year:

2008

Language:

english

File:

PDF, 687 KB

english, 2008

3

TrkA mediates effect of novel KIDINS220 mutation in human brain ventriculomegaly

Jacquemin, Valerie, Antoine, Mathieu, Duerinckx, Sarah, Massart, Annick, Desir, Julie, Perazzolo, Camille, Cassart, Marie, Thomas, Dominique, Segers, ValÃ©rie, Lecomte, Sophie, Abramowicz, Marc, Pirso

Journal:

Human Molecular Genetics

Year:

2020

File:

PDF, 746 KB

2020

4

Are We There Yet? The Journey to Becoming a Vascular-Thoracic ICU

Anne Knoll, Ann Knoll, Marie Desir, Angela Smith, Pat Rodriguez, Kathy Weber, Julie Fisher, Maria Mattison, Lori Hadas

Journal:

Journal of Vascular Nursing

Year:

2010

Language:

english

File:

PDF, 40 KB

english, 2010

5

Évaluation de la dépression chez les patients épileptiques suivis en neurologie au Burkina-Faso

Dabilgou, Alfred Anselme, Christian, Napon, Nanema, Désiré, Dravé, Alassane, Kyelem, Julie Marie Adelaide, Sawadogo, Pierre, Kaboré, Jean

Journal:

Revue Neurologique

Year:

2018

Language:

french

File:

PDF, 166 KB

french, 2018

6

Malnutrition, Growth Response and Metabolic Changes Within the First 24 Months After ART Initiation in HIV-Infected Children Treated Before the Age of Two Years in West Africa

Jesson, Julie, Dahourou, Désiré L., Folquet, Madeleine Amorissani, Malateste, Karen, Yonaba, Caroline, N’Gbeche, Marie-Sylvie, Ouédraogo, Sylvie, Mea-Assande, Véronique, Amani-Bossé, Clarisse, Blanche

Journal:

Pediatric Infectious Disease Journal

Year:

2018

Language:

english

File:

PDF, 2.10 MB

english, 2018

7

Novel mutations in prenatal diagnosis of primary microcephaly

Julie Desir, Marc Abramowicz, Yusuf Tunca

Journal:

Prenatal Diagnosis

Year:

2006

Language:

english

File:

PDF, 48 KB

english, 2006

8

RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes

Jeanson, Ludovic, Copin, Bruno, Papon, Jean-François, Dastot-Le Moal, Florence, Duquesnoy, Philippe, Montantin, Guy, Cadranel, Jacques, Corvol, Harriet, Coste, André, Désir, Julie, Souayah, Anissa, Ko

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.24 MB

english, 2015

9

Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion

Chatron, Nicolas, Haddad, Véronique, Andrieux, Joris, Désir, Julie, Boute, Odile, Dieux, Anne, Baumann, Clarisse, Drunat, Séverine, Gérard, Marion, Bonnet, Céline, Leheup, Bruno, Till, Marianne, Rossi

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 1.33 MB

english, 2015

10

First Report on Fetal Cerebral Polyglucosan Bodies in Mucopolysaccharidosis Type VII

Kadhim, Hazim, Segers, Valérie, Vilain, Catheline, Désir, Julie, D’Haene, Nicky

Journal:

Case Reports in Pediatrics

Year:

2017

File:

PDF, 3.46 MB

2017

11

LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma

Sznajer, Yves, Depasse, Fanny, Roulez, Françoise, Schrooyen, Marc, Meire, Françoise, Abramowicz, Marc, Désir, Julie

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 473 KB

english, 2010

12

WDR62 is associated with the spindle pole and is mutated in human microcephaly

Nicholas, Adeline K, Khurshid, Maryam, Désir, Julie, Carvalho, Ofélia P, Cox, James J, Thornton, Gemma, Kausar, Rizwana, Ansar, Muhammad, Ahmad, Wasim, Verloes, Alain

Journal:

Nature Genetics

Year:

2010

Language:

english

File:

PDF, 1.48 MB

english, 2010

13

Autosomal recessive primary microcephaly due to ASPM mutations: An update

Létard, Pascaline, Drunat, Séverine, Vial, Yoann, Duerinckx, Sarah, Ernault, Anais, Amram, Daniel, Arpin, Stéphanie, Bertoli, Marta, Busa, Tiffany, Ceulemans, Berten, Desir, Julie, Doco-Fenzy, Martine

Journal:

Year:

2017

File:

PDF, 1.83 MB

2017

14

Adverse events associated with abacavir use in HIV-infected children and adolescents: a systematic review and meta-analysis

Jesson, Julie, Dahourou, Désiré L, Renaud, Françoise, Penazzato, Martina, Leroy, Valériane

Journal:

Year:

2016

Language:

english

File:

PDF, 443 KB

english, 2016

15

Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation

Julie Désir, Marie Cassart, Catherine Donner, Paul Coucke, Marc Abramowicz, Geert Mortier

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 236 KB

english, 2012

16

Mutation of a potassium channel–related gene in progressive myoclonic epilepsy

Patrick Van Bogaert, Regis Azizieh, Julie Désir, Alec Aeby, Linda De Meirleir, Jean-François Laes, Florence Christiaens, Marc J. Abramowicz

Journal:

Annals of Neurology

Year:

2007

Language:

english

File:

PDF, 725 KB

english, 2007

17

Chemical composition of Melicope belahe (Baill.) T. G. Hartley (Rutaceae) leaf essential oil from Madagascar

Rabehaja, Delphin J. R., Garcia, Gabriel, Charmillon, Julie-Marie, Désiré, Odile, Paoli, Mathieu, Ramanoelina, Panja A.R., Tomi, Félix

Journal:

Natural Product Research

Year:

2016

Language:

english

File:

PDF, 751 KB

english, 2016

18

Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally

Julie Desir, Marie Cassart, Philippe David, Patrick Van Bogaert, Marc Abramowicz

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 250 KB

english, 2008

19

Prenatal diagnosis of primary microcephaly in two consanguineous families by confrontation of morphometry with DNA data

Yusuf Tunca, Sebahattin Vurucu, Jasmine Parma, Ridvan Akin, Julie Désir, Iskender Baser, Ali Ergun, Marc Abramowicz

Journal:

Prenatal Diagnosis

Year:

2006

Language:

english

File:

PDF, 168 KB

english, 2006

20

Severe X-linked chondrodysplasia punctata in nine new female fetuses

Lefebvre, Mathilde, Dufernez, Fabienne, Bruel, Ange-Line, Gonzales, Marie, Aral, Bernard, Saint-Onge, Judith, Gigot, Nadège, Desir, Julie, Daelemans, Caroline, Jossic, Frédérique, Schmitt, Sébastien,

Journal:

Prenatal Diagnosis

Year:

2015

File:

PDF, 477 KB

2015

21

Iron overload in gestational alloimmune liver disease: still more questions than answers

Serge Vanden_Eijnden, Mohammad Hassoun, Catherine Donner, Frédéric Cotton, Domenico Girelli, Nicky D'Haene, Julie Désir, Marie Cassart

Journal:

Prenatal Diagnosis

Year:

2012

Language:

english

File:

PDF, 149 KB

english, 2012

22

Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients

Lehalle, Daphné, Altunoglu, Umut, Bruel, Ange-Line, Arnaud, Eric, Blanchet, Patricia, Choi, Jong-Woo, Désir, Julie, Kiliç, Esra, Lederer, Damien, Pinson, Lucile, Thauvin-Robinet, Christel, Singer, Ami

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 712 KB

english, 2017

23

Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation

De Graer, Celine, Marangoni, Martina, Romnée, Stephanie, Delaunoy, Mélanie, Zaytouni, Siham, D'Haene, Nicky, Désir, Julie, Donner, Catherine

Journal:

European Journal of Medical Genetics

Year:

2019

File:

PDF, 946 KB

2019

24

Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome

Lina Basel-Vanagaite, Bruno Dallapiccola, Ramiro Ramirez-Solis, Alexandra Segref, Holger Thiele, Andrew Edwards, Mark J. Arends, Xavier Miró, Jacqueline K. White, Julie Désir, Marc Abramowicz, Maria L

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.05 MB

english, 2012

25

The BElgian PREnatal MicroArray (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations

Muys, Joke, Blaumeiser, Bettina, Jacquemyn, Yves, Bandelier, Claude, Brison, Nathalie, Bulk, Saskia, Chiarappa, Patrizia, Courtens, Winnie, De Leener, Anne, De Rademaeker, Marjan, Désir, Julie, Destre

Journal:

Prenatal Diagnosis

Year:

2018

Language:

english

File:

PDF, 865 KB

english, 2018

26

Sex Differences in Inflammatory Cytokines and CD99 Expression Following In Vitro Lipopolysaccharide Stimulation

Lefèvre, Nicolas, Corazza, Francis, Duchateau, Jean, Desir, Julie, Casimir, Georges

Journal:

Year:

2012

Language:

english

File:

PDF, 832 KB

english, 2012

27

Gender differences and inflammation: an in vitro model of blood cells stimulation in prepubescent children

Georges JA Casimir, Fabienne Heldenbergh, Laurence Hanssens, Sandra Mulier, Claudine Heinrichs, Nicolas Lefevre, Julie Désir, Francis Corazza, Jean Duchateau

Journal:

Journal of Inflammation

Year:

2010

Language:

english

File:

PDF, 547 KB

english, 2010

28

Multiplex antibody detection for the non-invasive genus-level diagnosis of prosthetic joint infection

Marmor, Simon, Bauer, Thomas, Desplaces, Nicole, Heym, Beate, Roux, Anne-Laure, Sol, Olivier, Roge, Julie, Mahe, Florence, Desire, Laurent, Aegerter, Philippe, Ghout, Idir, Ropers, Jacques, Gaillard,

Journal:

Journal of Clinical Microbiology

Year:

2016

Language:

english

File:

PDF, 556 KB

english, 2016

29

Chemical composition of leaf and bark essential oils of Vepris unifoliolata from Madagascar

Garcia, Gabriel, Charmillon, Julie-Marie, Roux, Elodie, Sutour, Sylvain, Rakotozafy, Jean Bertieu, Désiré, Odile, Paoli, Mathieu, Tomi, Félix, Rabehaja, Delphin J. R.

Journal:

Journal of Essential Oil Research

Year:

2016

Language:

english

File:

PDF, 1.07 MB

english, 2016

30

Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy

Moortgat, Stéphanie, Désir, Julie, Benoit, Valérie, Boulanger, Sébastien, Pendeville, Hélène, Nassogne, Marie-Cécile, Lederer, Damien, Maystadt, Isabelle

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 2.50 MB

english, 2016

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