You are here

  • Home
  • Noonan Syndrome

Noonan Syndrome

  • Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era
    Kyra E Stuurman, Marieke Joosten, Ineke van der Burgt, Mariet Elting, Helger G Yntema, Hanne Meijers-Heijboer, Tuula Rinne
    Journal of Medical Genetics Oct 2019, 56 (10) 654-661; DOI: 10.1136/jmedgenet-2018-105746
  • Germline RRAS2 mutations are not associated with Noonan syndrome
    John J Ceremsak, Ariel Yu, Emilio Esquivel, Christina Lissewski, Martin Zenker, Mignon L Loh, Elliot Stieglitz
    Journal of Medical Genetics Nov 2016, 53 (11) 728; DOI: 10.1136/jmedgenet-2016-103889
  • Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome
    Guilherme Lopes Yamamoto, Meire Aguena, Monika Gos, Christina Hung, Jacek Pilch, Somayyeh Fahiminiya, Anna Abramowicz, Ingrid Cristian, Michelle Buscarilli, Michel Satya Naslavsky, Alexsandra C Malaquias, Mayana Zatz, Olaf Bodamer, Jacek Majewski, Alexander A L Jorge, Alexandre C Pereira, Chong Ae Kim, Maria Rita Passos-Bueno, Débora Romeo Bertola
    Journal of Medical Genetics Jun 2015, 52 (6) 413-421; DOI: 10.1136/jmedgenet-2015-103018
  • Autism traits in the RASopathies
    Brigid Adviento, Iris L Corbin, Felicia Widjaja, Guillaume Desachy, Nicole Enrique, Tena Rosser, Susan Risi, Elysa J Marco, Robert L Hendren, Carrie E Bearden, Katherine A Rauen, Lauren A Weiss
    Journal of Medical Genetics Jan 2014, 51 (1) 10-20; DOI: 10.1136/jmedgenet-2013-101951