Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples

Por Menten, Björn, Swerts, Katrien, Chiaie, Barbara Delle, Janssens, Sandra, Buysse, Karen, Philippé, Jan, Speleman, Frank
Publicado em 2009

Attitudes of cystic fibrosis patients and parents toward carrier screening and related reproductive issues

Por Janssens, Sandra, Chokoshvilli, Davit, Binst, Carmen, Mahieu, Inge, Henneman, Lidewij, De Paepe, Anne, Borry, Pascal
Publicado no Eur J Hum Genet (2016)

Implementation of non‐invasive prenatal testing by semiconductor sequencing in a genetic laboratory

Por Dheedene, Annelies, Sante, Tom, De Smet, Matthias, Vanbellinghen, Jean‐François, Grisart, Bernard, Vergult, Sarah, Janssens, Sandra, Menten, Björn
Publicado no Prenat Diagn (2016)

Molecular Dissection of Isolated Disease Features in Mosaic Neurofibromatosis Type 1

Por Maertens, Ophélia , De Schepper, Sofie , Vandesompele, Jo , Brems, Hilde , Heyns, Ine , Janssens, Sandra , Speleman, Frank , Legius, Eric , Messiaen, Ludwine 
Publicado em 2007

Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability

Por Vergult, Sarah, Dheedene, Annelies, Meurs, Alfred, Faes, Fran, Isidor, Bertrand, Janssens, Sandra, Gautier, Agnès, Le Caignec, Cédric, Menten, Björn
Publicado no Eur J Hum Genet (2015)

Clinical expression of Menkes disease in females with normal karyotype

Por Møller Lisbeth, Lenartowicz Malgorzata, Zabot Marie-Therese, Josiane Arnaud, Burglen Lydie, Bennett Chris, Riconda Daniel, Fisher Richard, Janssens Sandra, Mohammed Shehla, Ausems Margreet, Tümer Zeynep, Horn Nina, Jensen Thomas G
Publicado em 2012-01-01

Clinical expression of Menkes disease in females with normal karyotype

Por Møller, Lisbeth Birk, Lenartowicz, Malgorzata, Zabot, Marie-Therese, Josiane, Arnaud, Burglen, Lydie, Bennett, Chris, Riconda, Daniel, Fisher, Richard, Janssens, Sandra, Mohammed, Shehla, Ausems, Margreet, Tümer, Zeynep, Horn, Nina, Jensen, Thomas G
Publicado em 2012

Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape

Por Verdin, Hannah, Fernández-Miñán, Ana, Benito-Sanz, Sara, Janssens, Sandra, Callewaert, Bert, Waele, Kathleen De, Schepper, Jean De, François, Inge, Menten, Björn, Heath, Karen E., Gómez-Skarmeta, José Luis, Baere, Elfride De
Publicado no Sci Rep (2015)

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

Por Savarese, Marco, Di Fruscio, Giuseppina, Tasca, Giorgio, Ruggiero, Lucia, Janssens, Sandra, De Bleecker, Jan, Delpech, Marc, Musumeci, Olimpia, Toscano, Antonio, Angelini, Corrado, Sacconi, Sabrina, Santoro, Lucio, Ricci, Enzo, Claes, Kathleen, Politano, Luisa, Nigro, Vincenzo
Publicado no Neuromuscul Disord (2015)

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

Por Simonis, Nicolas, Migeotte, Isabelle, Lambert, Nelle, Perazzolo, Camille, de Silva, Deepthi C, Dimitrov, Boyan, Heinrichs, Claudine, Janssens, Sandra, Kerr, Bronwyn, Mortier, Geert, Van Vliet, Guy, Lepage, Philippe, Casimir, Georges, Abramowicz, Marc, Smits, Guillaume, Vilain, Catheline
Publicado em 2013

Responsible implementation of expanded carrier screening

Por Henneman, Lidewij, Borry, Pascal, Chokoshvili, Davit, Cornel, Martina C, van El, Carla G, Forzano, Francesca, Hall, Alison, Howard, Heidi C, Janssens, Sandra, Kayserili, Hülya, Lakeman, Phillis, Lucassen, Anneke, Metcalfe, Sylvia A, Vidmar, Lovro, de Wert, Guido, Dondorp, Wybo J, Peterlin, Borut
Publicado no Eur J Hum Genet (2016)

47 patients with FLNA associated periventricular nodular heterotopia

Por Lange, Max, Kasper, Burkhard, Bohring, Axel, Rutsch, Frank, Kluger, Gerhard, Hoffjan, Sabine, Spranger, Stephanie, Behnecke, Anne, Ferbert, Andreas, Hahn, Andreas, Oehl-Jaschkowitz, Barbara, Graul-Neumann, Luitgard, Diepold, Katharina, Schreyer, Isolde, Bernhard, Matthias K., Mueller, Franziska, Siebers-Renelt, Ulrike, Beleza-Meireles, Ana, Uyanik, Goekhan, Janssens, Sandra, Boltshauser, Eugen, Winkler, Juergen, Schuierer, Gerhard, Hehr, Ute
Publicado no Orphanet J Rare Dis (2015)

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

Por Savarese, Marco, Di Fruscio, Giuseppina, Torella, Annalaura, Fiorillo, Chiara, Magri, Francesca, Fanin, Marina, Ruggiero, Lucia, Ricci, Giulia, Astrea, Guja, Passamano, Luigia, Ruggieri, Alessandra, Ronchi, Dario, Tasca, Giorgio, D'Amico, Adele, Janssens, Sandra, Farina, Olimpia, Mutarelli, Margherita, Marwah, Veer Singh, Garofalo, Arcomaria, Giugliano, Teresa, Sanpaolo, Simone, Del Vecchio Blanco, Francesca, Esposito, Gaia, Piluso, Giulio, D'Ambrosio, Paola, Petillo, Roberta, Musumeci, Olimpia, Rodolico, Carmelo, Messina, Sonia, Evilä, Anni, Hackman, Peter, Filosto, Massimiliano, Di Iorio, Giuseppe, Siciliano, Gabriele, Mora, Marina, Maggi, Lorenzo, Minetti, Carlo, Sacconi, Sabrina, Santoro, Lucio, Claes, Kathleen, Vercelli, Liliana, Mongini, Tiziana, Ricci, Enzo, Gualandi, Francesca, Tupler, Rossella, De Bleecker, Jan, Udd, Bjarne, Toscano, Antonio, Moggio, Maurizio, Pegoraro, Elena, Bertini, Enrico, Mercuri, Eugenio, Angelini, Corrado, Santorelli, Filippo Maria, Politano, Luisa, Bruno, Claudio, Comi, Giacomo Pietro, Nigro, Vincenzo
Publicado no Neurology (2016)

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correla...

Por Rojnueangnit, Kitiwan, Xie, Jing, Gomes, Alicia, Sharp, Angela, Callens, Tom, Chen, Yunjia, Liu, Ying, Cochran, Meagan, Abbott, Mary‐Alice, Atkin, Joan, Babovic‐Vuksanovic, Dusica, Barnett, Christopher P., Crenshaw, Melissa, Bartholomew, Dennis W., Basel, Lina, Bellus, Gary, Ben‐Shachar, Shay, Bialer, Martin G., Bick, David, Blumberg, Bruce, Cortes, Fanny, David, Karen L., Destree, Anne, Duat‐Rodriguez, Anna, Earl, Dawn, Escobar, Luis, Eswara, Marthanda, Ezquieta, Begona, Frayling, Ian M., Frydman, Moshe, Gardner, Kathy, Gripp, Karen W., Hernández‐Chico, Concepcion, Heyrman, Kurt, Ibrahim, Jennifer, Janssens, Sandra, Keena, Beth A, Llano‐Rivas, Isabel, Leppig, Kathy, McDonald, Marie, Misra, Vinod K., Mulbury, Jennifer, Narayanan, Vinodh, Orenstein, Naama, Galvin‐Parton, Patricia, Pedro, Helio, Pivnick, Eniko K., Powell, Cynthia M., Randolph, Linda, Raskin, Salmo, Rosell, Jordi, Rubin, Karol, Seashore, Margretta, Schaaf, Christian P., Scheuerle, Angela, Schultz, Meredith, Schorry, Elizabeth, Schnur, Rhonda, Siqveland, Elizabeth, Tkachuk, Amanda, Tonsgard, James, Upadhyaya, Meena, Verma, Ishwar C., Wallace, Stephanie, Williams, Charles, Zackai, Elaine, Zonana, Jonathan, Lazaro, Conxi, Claes, Kathleen, Korf, Bruce, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine
Publicado no Hum Mutat (2015)

The Genomic Landscape of Balanced Cytogenetic Abnormalities Associated with Human Congenital Anomalies

Por Redin, Claire, Brand, Harrison, Collins, Ryan L., Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C., Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M., Abbott, Mary-Alice, Abdul-Rahman, Omar A., Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L., Alkuraya, Fowzan S., An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F., Bartell, Tina, Bernstein, Jonathan A., Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M.H.F., Brilstra, Eva H., Brown, Chester W., Brüggenwirth, Hennie T., Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B., Cushing, Tom, David, Dezso, Deardorff, Matthew A., Dheedene, Annelies, D’Hooghe, Marc, de Vries, Bert B.A., Earl, Dawn L., Ferguson, Heather L., Fisher, Heather, FitzPatrick, David R., Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T., Gliem, Troy, Grady, Margo, Graham, Brett H., Griffis, Cristin, Gripp, Karen W., Gropman, Andrea L., Hanson-Kahn, Andrea, Harris, David J., Hayden, Mark A., Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D., Hopkin, Robert J., Hubshman, Monika W., Innes, A. Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C., Janssens, Sandra, Jewett, Tamison, Johnson, John P., Jongmans, Marjolijn C., Kahler, Stephen G., Koolen, David A., Korzelius, Jerome, Kroisel, Peter M., Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V., Li, Haibo, Li, Hong, Liao, Eric C., Lim, Cynthia, Lose, Edward J., Lucente, Diane, Macera, Michael J., Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L., Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W., Zepeda Mendoza, Cinthya J., Menten, Björn, Middelkamp, Sjors, Mikami, Liya R., Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E., Moya, Graciela, Nieuwint, Aggie W., Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P., Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Piña Aguilar, Raul E., Poddighe, Pino J., Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L.P., Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R., Tagoe, Julia, Thakuria, Joseph V., van Bon, Bregje W., van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M., van Roosmalen, Markus J., Vergult, Sarah, Volker-Touw, Catharina M.L., Warburton, Dorothy P., Waterman, Matthew J., Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A., Zori, Roberto T., Levy, Brynn, Brunner, Han G., de Leeuw, Nicole, Kloosterman, Wigard P., Thorland, Erik C., Morton, Cynthia C., Gusella, James F., Talkowski, Michael E.
Publicado no Nat Genet (2016)