Hypomethylation of the H19 Gene Causes Not Only Silver-Russell Syndrome (SRS) but Also Isolated Asymmetry or an SRS-Like Phenotype

Por Bliek, Jet, Terhal, Paulien, van den Bogaard, Marie-José, Maas, Saskia, Hamel, Ben, Salieb-Beugelaar, Georgette, Simon, Marleen, Letteboer, Tom, van der Smagt, Jasper, Kroes, Hester, Mannens, Marcel
Publicado em 2006

In vitro epithelial-to-mesenchymal transformation in human adult epicardial cells is regulated by TGFβ-signaling and WT1

Por Bax, Noortje A. M., van Oorschot, Angelique A. M., Maas, Saskia, Braun, Jerry, van Tuyn, John, de Vries, Antoine A. F., Groot, Adriana C. Gittenberger-de, Goumans, Marie-José
Publicado em 2011

Opposite effects on facial morphology due to gene dosage sensitivity

Por Hammond, Peter, McKee, Shane, Suttie, Michael, Allanson, Judith, Cobben, Jan-Maarten, Maas, Saskia M., Quarrell, Oliver, Smith, Ann C. M., Lewis, Suzanne, Tassabehji, May, Sisodiya, Sanjay, Mattina, Teresa, Hennekam, Raoul
Publicado em 2014

Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells

Por Bliek, Jet, Alders, Marielle, Maas, Saskia M, Oostra, Roelof-Jan, Mackay, Deborah M, van der Lip, Karin, Callaway, Johnatan L, Brooks, Alice, van 't Padje, Sandra, Westerveld, Andries, Leschot, Nico J, Mannens, Marcel MAM
Publicado em 2009

Identifying Candidate Hirschsprung Disease–Associated RET Variants

Por Burzynski, Grzegorz M., Nolte, Ilja M., Bronda, Agnes, Bos, Krista K., Osinga, Jan, Plaza Menacho, Ivan, Twigt, Bas, Maas, Saskia, Brooks, Alice S., Verheij, Joke B. G. M., Buys, Charles H. C. M., Hofstra, Robert M. W.
Publicado em 2005

Epithelial-to-mesenchymal transformation alters electrical conductivity of human epicardial cells

Por Bax, Noortje A M, Pijnappels, Daniël A, van Oorschot, Angelique A M, Winter, Elizabeth M, de Vries, Antoine A F, van Tuyn, John, Braun, Jerry, Maas, Saskia, Schalij, Martin J, Atsma, Douwe E, Goumans, Marie-José, Gittenberger-de Groot, Adriana C
Publicado no J Cell Mol Med (2011)

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome

Por Bliek, Jet, Verde, Gaetano, Callaway, Jonathan, Maas, Saskia M, De Crescenzo, Agostina, Sparago, Angela, Cerrato, Flavia, Russo, Silvia, Ferraiuolo, Serena, Rinaldi, Maria Michela, Fischetto, Rita, Lalatta, Faustina, Giordano, Lucio, Ferrari, Paola, Cubellis, Maria Vittoria, Larizza, Lidia, Temple, I Karen, Mannens, Marcel M A M, Mackay, Deborah J G, Riccio, Andrea
Publicado em 2009

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

Por Zazo Seco, Celia, Wesdorp, Mieke, Feenstra, Ilse, Pfundt, Rolph, Hehir-Kwa, Jayne Y, Lelieveld, Stefan H, Castelein, Steven, Gilissen, Christian, de Wijs, Ilse J, Admiraal, Ronald JC, Pennings, Ronald JE, Kunst, Henricus PM, van de Kamp, Jiddeke M, Tamminga, Saskia, Houweling, Arjan C, Plomp, Astrid S, Maas, Saskia M, de Koning Gans, Pia AM, Kant, Sarina G, de Geus, Christa M, Frints, Suzanna GM, Vanhoutte, Els K, van Dooren, Marieke F, van den Boogaard, Marie- José H, Scheffer, Hans, Nelen, Marcel, Kremer, Hannie, Hoefsloot, Lies, Schraders, Margit, Yntema, Helger G
Publicado no Eur J Hum Genet (2017)