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

Por Desir, Julie, Abramowicz, Marc
Publicado em 2008

First Report on Fetal Cerebral Polyglucosan Bodies in Mucopolysaccharidosis Type VII

Por Kadhim, Hazim, Segers, Valérie, Vilain, Catheline, Désir, Julie, D'Haene, Nicky
Publicado no Case Rep Pediatr (2017)

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

Por Désir, Julie, Sznajer, Yves, Depasse, Fanny, Roulez, Françoise, Schrooyen, Marc, Meire, Françoise, Abramowicz, Marc
Publicado em 2010

TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy

Por Désir, Julie, Coppieters, Frauke, Van Regemorter, Nicole, De Baere, Elfride, Abramowicz, Marc, Cordonnier, Monique
Publicado em 2012

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

Por Casimir, Georges JA, Heldenbergh, Fabienne, Hanssens, Laurence, Mulier, Sandra, Heinrichs, Claudine, Lefevre, Nicolas, Désir, Julie, Corazza, Francis, Duchateau, Jean
Publicado em 2010

A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia

Por Stange, Katja, Désir, Julie, Kakar, Naseebullah, Mueller, Thomas D., Budde, Birgit S., Gordon, Christopher T., Horn, Denise, Seemann, Petra, Borck, Guntram
Publicado no Orphanet J Rare Dis (2015)

Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non‐syndromic corneal endothelial dystrophy

Por Desir, Julie, Moya, Graciela, Reish, Orit, Van Regemorter, Nicole, Deconinck, Hilde, David, Karen L, Meire, Françoise M, Abramowicz, Marc J
Publicado em 2007

tRNA Methyltransferase Homolog Gene TRMT10A Mutation in Young Onset Diabetes and Primary Microcephaly in Humans

Por Igoillo-Esteve, Mariana, Genin, Anne, Lambert, Nelle, Désir, Julie, Pirson, Isabelle, Abdulkarim, Baroj, Simonis, Nicolas, Drielsma, Anais, Marselli, Lorella, Marchetti, Piero, Vanderhaeghen, Pierre, Eizirik, Décio L., Wuyts, Wim, Julier, Cécile, Chakera, Ali J., Ellard, Sian, Hattersley, Andrew T., Abramowicz, Marc, Cnop, Miriam
Publicado em 2013

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

Por Nicholas, Adeline K, Khurshid, Maryam, Désir, Julie, Carvalho, Ofélia P, Cox, James J, Thornton, Gemma, Kausar, Rizwana, Ansar, Muhammad, Ahmad, Wasim, Verloes, Alain, Passemard, Sandrine, Misson, Jean-Paul, Lindsay, Susan, Gergely, Fanni, Dobyns, William B, Roberts, Emma, Abramowicz, Marc, Woods, C Geoffrey
Publicado no Nat Genet (2010)

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

Por 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, Kott, Esther, Collot, Nathalie, Tissier, Sylvie, Louis, Bruno, Tamalet, Aline, de Blic, Jacques, Clement, Annick, Escudier, Estelle, Amselem, Serge, Legendre, Marie
Publicado no Am J Hum Genet (2015)

Rfx6 Directs Islet Formation and Insulin Production in Mice and Humans

Por Smith, Stuart B., Qu, Hui-Qi, Taleb, Nadine, Kishimoto, Nina, Scheel, David W., Lu, Yang, Patch, Ann-Marie, Grabs, Rosemary, Wang, Juehu, Lynn, Francis C., Miyatsuka, Takeshi, Mitchell, John, Seerke, Rina, Désir, Julie, Eijnden, Serge Vanden, Abramowicz, Marc, Kacet, Nadine, Weill, Jacques, Renard, Marie-Éve, Gentile, Mattia, Hansen, Inger, Dewar, Ken, Hattersley, Andrew T., Wang, Rennian, Wilson, Maria E., Johnson, Jeffrey D., Polychronakos, Constantin, German, Michael S.
Publicado em 2010

Further Delineation of CANT1 Phenotypic Spectrum and Demonstration of Its Role in Proteoglycan Synthesis

Por Nizon, Mathilde, Huber, Céline, De Leonardis, Fabio, Merrina, Rodolphe, Forlino, Antonella, Fradin, Mélanie, Tuysuz, Beyhan, Abu-Libdeh, Bassam Y, Alanay, Yasemin, Albrecht, Beate, Al-Gazali, Lihadh, Basaran, Sarenur Yilmaz, Clayton-Smith, Jill, Désir, Julie, Gill, Harinder, Greally, Marie T, Koparir, Erkan, van Maarle, Merel C, MacKay, Sara, Mortier, Geert, Morton, Jenny, Sillence, David, Vilain, Catheline, Young, Ian, Zerres, Klaus, Le Merrer, Martine, Munnich, Arnold, Le Goff, Carine, Rossi, Antonio, Cormier-Daire, Valérie
Publicado em 2012

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

Por Basel-Vanagaite, Lina, Dallapiccola, Bruno, Ramirez-Solis, Ramiro, Segref, Alexandra, Thiele, Holger, Edwards, Andrew, Arends, Mark J., Miró, Xavier, White, Jacqueline K., Désir, Julie, Abramowicz, Marc, Dentici, Maria Lisa, Lepri, Francesca, Hofmann, Kay, Har-Zahav, Adi, Ryder, Edward, Karp, Natasha A., Estabel, Jeanne, Gerdin, Anna-Karin B., Podrini, Christine, Ingham, Neil J., Altmüller, Janine, Nürnberg, Gudrun, Frommolt, Peter, Abdelhak, Sonia, Pasmanik-Chor, Metsada, Konen, Osnat, Kelley, Richard I., Shohat, Mordechai, Nürnberg, Peter, Flint, Jonathan, Steel, Karen P., Hoppe, Thorsten, Kubisch, Christian, Adams, David J., Borck, Guntram
Publicado em 2012

A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3

Por Schepers, Dorien, Tortora, Giada, Morisaki, Hiroko, MacCarrick, Gretchen, Lindsay, Mark, Liang, David, Mehta, Sarju G., Hague, Jennifer, Verhagen, Judith, van de Laar, Ingrid, Wessels, Marja, Detisch, Yvonne, van Haelst, Mieke, Baas, Annette, Lichtenbelt, Klaske, Braun, Kees, van der Linde, Denise, Roos‐Hesselink, Jolien, McGillivray, George, Meester, Josephina, Maystadt, Isabelle, Coucke, Paul, El‐Khoury, Elie, Parkash, Sandhya, Diness, Birgitte, Risom, Lotte, Scurr, Ingrid, Hilhorst‐Hofstee, Yvonne, Morisaki, Takayuki, Richer, Julie, Désir, Julie, Kempers, Marlies, Rideout, Andrea L., Horne, Gabrielle, Bennett, Chris, Rahikkala, Elisa, Vandeweyer, Geert, Alaerts, Maaike, Verstraeten, Aline, Dietz, Hal, Van Laer, Lut, Loeys, Bart
Publicado no Hum Mutat (2018)

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

Por Lovric, Svjetlana, Goncalves, Sara, Gee, Heon Yung, Oskouian, Babak, Srinivas, Honnappa, Choi, Won-Il, Shril, Shirlee, Ashraf, Shazia, Tan, Weizhen, Rao, Jia, Airik, Merlin, Schapiro, David, Braun, Daniela A., Sadowski, Carolin E., Widmeier, Eugen, Jobst-Schwan, Tilman, Schmidt, Johanna Magdalena, Girik, Vladimir, Capitani, Guido, Suh, Jung H., Lachaussée, Noëlle, Arrondel, Christelle, Patat, Julie, Gribouval, Olivier, Furlano, Monica, Boyer, Olivia, Schmitt, Alain, Vuiblet, Vincent, Hashmi, Seema, Wilcken, Rainer, Bernier, Francois P., Innes, A. Micheil, Parboosingh, Jillian S., Lamont, Ryan E., Midgley, Julian P., Wright, Nicola, Majewski, Jacek, Zenker, Martin, Schaefer, Franz, Kuss, Navina, Greil, Johann, Giese, Thomas, Schwarz, Klaus, Catheline, Vilain, Schanze, Denny, Franke, Ingolf, Sznajer, Yves, Truant, Anne S., Adams, Brigitte, Désir, Julie, Biemann, Ronald, Pei, York, Ars, Elisabet, Lloberas, Nuria, Madrid, Alvaro, Dharnidharka, Vikas R., Connolly, Anne M., Willing, Marcia C., Cooper, Megan A., Lifton, Richard P., Simons, Matias, Riezman, Howard, Antignac, Corinne, Saba, Julie D., Hildebrandt, Friedhelm
Publicado no J Clin Invest (2017)