Book Chapter
Noonan Syndrome
2006, Atlas of Genetic Diagnosis and Counseling, Pages 744-749
Journal Article
Open AccessLeopard syndrome
Anna Sarkozy, Maria Cristina Digilio and Bruno Dallapiccola
Orphanet Journal of Rare Diseases, 2008, Volume 3, Number 1, 13
Journal Article
Open AccessNoonan syndrome and related disorders: Alterations in growth and puberty
Jacqueline A. Noonan
Reviews in Endocrine & Metabolic Disorders, 2006, Volume 7, Number 4, Pages 251-255
Journal Article
PTPN11
gene mutations: linking the Gln510Glu mutation to the “LEOPARD syndrome phenotype”
M. Cristina Digilio, Anna Sarkozy, Giuseppe Pacileo, Giuseppe Limongelli and Bruno Marino, et al.
European Journal of Pediatrics, 2006, Volume 165, Number 11, Pages 803-805
Journal Article
How do Shp2 mutations that oppositely influence its biochemical activity result in syndromes with overlapping symptoms?
T. Edouard, A. Montagner, M. Dance, F. Conte and A. Yart, et al.
Cellular and Molecular Life Sciences, 2007, Volume 64, Number 13, Pages 1585-1590
Book Chapter
Voie Ras-MAPK et anomalies du développement: syndromes de Noonan, Costello, cardio-facio-cutané et LEOPARD
Nadine Hanna, Béatrice Parfait, Nicole Philip and Michel Vidaud
2009, Épidémiologie des cancers de l’enfant, Part 2, Part 7, Pages 203-212
Journal Article
Noonan syndrome: growth and clinical manifestations in 144 cases
M. B. Ranke, P. Heidemann, C. Knupfer, H. Enders and A. A. Schmaltz, et al.
European Journal of Pediatrics, 1988, Volume 148, Number 3, Pages 220-227
Journal Article
Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome
Andra Ion, Marco Tartaglia, Xiaoling Song, Kamini Kalidas and Ineke van der Burgt, et al.
Human Genetics, 2002, Volume 111, Numbers 4-5, Pages 421-427
Journal Article
LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria
Atilano Carcavilla, Isabel Pinto, Rafael Muñoz-Pacheco, Raquel Barrio and Maria Martin-Frías, et al.
European Journal of Pediatrics, 2011, Volume 170, Number 8, Pages 1069-1074
Journal Article
Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11
Kamini Kalidas, Adam C. Shaw, Andrew H. Crosby, Ruth Newbury-Ecob and Lynn Greenhalgh, et al.
Journal of Human Genetics, 2005, Volume 50, Number 1, Pages 21-25