Unexplained early-onset lacunar stroke and inflammatory skin lesions: Consider ADA2 deficiency

Por Westendorp, Willeke F., Nederkoorn, Paul J., Aksentijevich, Ivona, Hak, A. Elisabeth, Lichtenbelt, Klaske D., Braun, Kees P.J.
Publicado no Neurology (2015)

A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations

Por Munot, Pinki, Saunders, Dawn E., Milewicz, Dianna M., Regalado, Ellen S., Ostergaard, John R., Braun, Kees P., Kerr, Timothy, Lichtenbelt, Klaske D., Philip, Sunny, Rittey, Christopher, Jacques, Thomas S., Cox, Timothy C., Ganesan, Vijeya
Publicado em 2012

Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part II—women's perspectives

Por van Schendel, Rachèl V., Page‐Christiaens, G. C. (Lieve), Beulen, Lean, Bilardo, Catia M., de Boer, Marjon A., Coumans, Audrey B. C., Faas, Brigitte H., van Langen, Irene M., Lichtenbelt, Klaske D., van Maarle, Merel C., Macville, Merryn V. E., Oepkes, Dick, Pajkrt, Eva, Henneman, Lidewij
Publicado no Prenat Diagn (2016)

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment

Por Hempel, Maja, Cremer, Kirsten, Ockeloen, Charlotte W., Lichtenbelt, Klaske D., Herkert, Johanna C., Denecke, Jonas, Haack, Tobias B., Zink, Alexander M., Becker, Jessica, Wohlleber, Eva, Johannsen, Jessika, Alhaddad, Bader, Pfundt, Rolph, Fuchs, Sigrid, Wieczorek, Dagmar, Strom, Tim M., van Gassen, Koen L.I., Kleefstra, Tjitske, Kubisch, Christian, Engels, Hartmut, Lessel, Davor
Publicado no Am J Hum Genet (2015)

Patient-specific induced pluripotent stem cell derived models of LEOPARD syndrome

Por Carvajal-Vergara, Xonia, Sevilla, Ana, D’Souza, Sunita L., Ang, Yen-Sin, Schaniel, Christoph, Lee, Dung-Fang, Yang, Lei, Kaplan, Aaron D., Adler, Eric D., Rozov, Roye, Ge, YongChao, Cohen, Ninette, Edelmann, Lisa J., Chang, Betty, Waghray, Avinash, Su, Jie, Pardo, Sherly, Lichtenbelt, Klaske D., Tartaglia, Marco, Gelb, Bruce, Lemischka, Ihor R.
Publicado em 2010

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

Por Allali, Slimane, Le Goff, Carine, PressaceDiebold, Isabelle, Pfennig, Gwendoline, Mahaut, Clémentine, Dagoneau, Nathalie, Alanay, Yasemin, Brady, Angela F, Crow, Yanick J, Devriendt, Koen, Drouin-Garraud, Valérie, Flori, Elisabeth, Geneviève, David, Hennekam, Raoul C, Hurst, Jane, Krakow, Deborah, Le Merrer, Martine, Lichtenbelt, Klaske D, Lynch, Sally A, Lyonnet, Stanislas, MacDermot, Kay, Mansour, Sahar, Megarbané, André, Santos, Heloisa G, Splitt, Miranda, Superti-Furga, Andrea, Unger, Sheila, Williams, Denise, Munnich, Arnold, Cormier-Daire, Valérie
Publicado no J Med Genet (2011)

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

Por van Bon, Bregje W M, Koolen, David A, Brueton, Louise, McMullan, Dominic, Lichtenbelt, Klaske D, Adès, Lesley C, Peters, Gregory, Gibson, Kate, Moloney, Susan, Novara, Francesca, Pramparo, Tiziano, Bernardina, Bernardo Dalla, Zoccante, Leonardo, Balottin, Umberto, Piazza, Fausta, Pecile, Vanna, Gasparini, Paolo, Guerci, Veronica, Kets, Marleen, Pfundt, Rolph, de Brouwer, Arjan P, Veltman, Joris A, de Leeuw, Nicole, Wilson, Meredith, Antony, Jayne, Reitano, Santina, Luciano, Daniela, Fichera, Marco, Romano, Corrado, Brunner, Han G, Zuffardi, Orsetta, de Vries, Bert BA
Publicado em 2010

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

Por van Bon, Bregje WM, Koolen, David A, Brueton, Louise, McMullan, Dominic, Lichtenbelt, Klaske D, Adès, Lesley C, Peters, Gregory, Gibson, Kate, Novara, Francesca, Pramparo, Tiziano, Bernardina, Bernardo Dalla, Zoccante, Leonardo, Balottin, Umberto, Piazza, Fausta, Pecile, Vanna, Gasparini, Paolo, Guerci, Veronica, Kets, Marleen, Pfundt, Rolph, de Brouwer, Arjan P, Veltman, Joris A, de Leeuw, Nicole, Wilson, Meredith, Antony, Jayne, Reitano, Santina, Luciano, Daniela, Fichera, Marco, Romano, Corrado, Brunner, Han G, Zuffardi, Orsetta, de Vries, Bert BA
Publicado em 2010

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

Por van Bon, Bregje WM, Koolen, David A, Brueton, Louise, McMullan, Dominic, Lichtenbelt, Klaske D, Adès, Lesley C, Peters, Gregory, Gibson, Kate, Novara, Francesca, Pramparo, Tiziano, Bernardina, Bernardo Dalla, Zoccante, Leonardo, Balottin, Umberto, Piazza, Fausta, Pecile, Vanna, Gasparini, Paolo, Guerci, Veronica, Kets, Marleen, Pfundt, Rolph, de Brouwer, Arjan P, Veltman, Joris A, de Leeuw, Nicole, Wilson, Meredith, Antony, Jayne, Reitano, Santina, Luciano, Daniela, Fichera, Marco, Romano, Corrado, Brunner, Han G, Zuffardi, Orsetta, de Vries, Bert BA
Publicado em 2010

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes

Por Paulussen, Aimée DC, Schrander-Stumpel, Constance T, Tserpelis, Demis C J, Spee, Matteus K M, Stegmann, Alexander P A, Mancini, Grazia M, Brooks, Alice S, Collée, Margriet, Maat-Kievit, Anneke, Simon, Marleen E H, van Bever, Yolande, Stolte-Dijkstra, Irene, Kerstjens-Frederikse, Wilhelmina S, Herkert, Johanna C, van Essen, Anthonie J, Lichtenbelt, Klaske D, van Haeringen, Arie, Kwee, Mei L, Lachmeijer, Augusta M A, Tan-Sindhunata, Gita M B, van Maarle, Merel C, Arens, Yvonne H J M, Smeets, Eric E J G L, de Die-Smulders, Christine E, Engelen, John J M, Smeets, Hubertus J, Herbergs, Jos
Publicado em 2010

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

Por Talkowski, Michael E., Mullegama, Sureni V., Rosenfeld, Jill A., van Bon, Bregje W.M., Shen, Yiping, Repnikova, Elena A., Gastier-Foster, Julie, Thrush, Devon Lamb, Kathiresan, Sekar, Ruderfer, Douglas M., Chiang, Colby, Hanscom, Carrie, Ernst, Carl, Lindgren, Amelia M., Morton, Cynthia C., An, Yu, Astbury, Caroline, Brueton, Louise A., Lichtenbelt, Klaske D., Ades, Lesley C., Fichera, Marco, Romano, Corrado, Innis, Jeffrey W., Williams, Charles A., Bartholomew, Dennis, Van Allen, Margot I., Parikh, Aditi, Zhang, Lilei, Wu, Bai-Lin, Pyatt, Robert E., Schwartz, Stuart, Shaffer, Lisa G., de Vries, Bert B.A., Gusella, James F., Elsea, Sarah H.
Publicado em 2011