Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 9 (of 9 Records) |
Query Trace: Cardiofaciocutaneous Syndrome[original query] |
---|
Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome. American journal of medical genetics. Part A 2010 Mar 152A (3): 591-600. Pierpont Elizabeth I, Pierpont Mary Ella, Mendelsohn Nancy J, Roberts Amy E, Tworog-Dube Erica, Rauen Katherine A, Seidenberg Mark |
Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. The Journal of pediatrics 2011 Dec 159 (6): 1029-35. Lee Beom Hee, Kim Jae-Min, Jin Hye Young, Kim Gu-Hwan, Choi Jin-Ho, Yoo Han-Wo |
The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome. European journal of human genetics : EJHG 2015 Aug . Joyce Sarah, Gordon Kristiana, Brice Glen, Ostergaard Pia, Nagaraja Rani, Short John, Moore Sandra, Mortimer Peter, Mansour Sah |
Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes. Human genetics 2018 10 138 (1): 21-35. Umeki Ikumi, Niihori Tetsuya, Abe Taiki, Kanno Shin-Ichiro, Okamoto Nobuhiko, Mizuno Seiji, Kurosawa Kenji, Nagasaki Keisuke, Yoshida Makoto, Ohashi Hirofumi, Inoue Shin-Ichi, Matsubara Yoichi, Fujiwara Ikuma, Kure Shigeo, Aoki Yo |
Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina. Archivos argentinos de pediatria 2019 9 117 (5): 330-337. Chinton Josefina, Huckstadt Victoria, Moresco Angélica, Gravina L Pablo, Obregon M Gabrie |
Mutation and Phenotypic Spectrum of Patients With RASopathies. Indian pediatrics 2020 8 . Lallar Meenakshi, Bijarnia-Mahay Sunita, Verma I C, Mandal Kaushik, Puri Ratna D |
Mutation and Phenotypic Spectrum of Patients With RASopathies. Indian pediatrics 2021 1 58 (1): 30-33. Lallar Meenakshi, Bijarnia-Mahay Sunita, Verma I C, Mandal Kaushik, Puri Ratna D |
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment. Journal of clinical medicine 2023 8 12 (15): . Atilano Carcavilla, Ana Cambra, José L Santomé, Verónica Seidel, Jaime Cruz, Milagros Alonso, Jesús Pozo, Irene Valenzuela, Encarna Guillén-Navarro, Fernando Santos-Simarro, Isabel González-Casado, Amparo Rodríguez, Constancio Medrano, Juan Pedro López-Siguero, Begoña Ezquie |
Natural history and outcomes in paediatric RASopathy-associated hypertrophic cardiomyopathy. ESC heart failure 2024 1 . Olga Boleti, Gabrielle Norrish, Ella Field, Kathleen Dady, Kim Summers, Gauri Nepali, Vinay Bhole, Orhan Uzun, Amos Wong, Piers E F Daubeney, Graham Stuart, Precylia Fernandes, Karen McLeod, Maria Ilina, Muhammad Najih Liaqath Ali, Tara Bharucha, Grazia Delle Donne, Elspeth Brown, Katie Linter, Caroline B Jones, Jonathan Searle, William Regan, Sujeev Mathur, Nicola Boyd, Zdenka Reinhardt, Sophie Duignan, Terence Prendiville, Satish Adwani, Juan Pablo Kas |
- Page last reviewed:Feb 1, 2024
- Content source: