Results 71 to 80 of about 1,575 (156)

Cancer risk in adults with pathogenic germline variants in RAS/MAPK genes using genomic ascertainment. [PDF]

Genet Med
Kim J, Ney G, Frone MN, Haley JS, Ramos MLF, Mirshahi UL, Astiazaran-Symonds E, Shandrina M, Urban G, Rao HS, Stahl RC, Golden A, Yohe ME, Gross AM, Ding Y, Carey DJ, Gelb BD, Stewart DR.   +17 more
europepmc   +1 more source

RASopathy

, 2017
Rohit Sharma, Jeremy Jones, Daniel Bell
openaire   +1 more source

Long-term clinical benefit of mavacamten for hypertrophic cardiomyopathy in a patient with <i>RAF1</i>-associated Noonan syndrome-case report. [PDF]

Eur Heart J Case Rep
Seghers HM, Ectors B, Alaerts M, Saenen J, Van Craenenbroeck EM.   +4 more
europepmc   +1 more source

Genetic activation of ERK2 recapitulates core neurodevelopmental features of Rasopathy syndromes in mice. [PDF]

HGG Adv
Grover KE, Cappel ZR, Volz AM, Cotella EM, Smallwood K, Berryhill CA, Raje KR, Fisher AA, Casper MCT, Nardini D, Rizvi TA, Salazar RM, Wooten A, Williams MT, Vorhees CV, Romick LE, Greis KD, Hu YC, Miles LA, Angus SP, Ratner N, Prada CE, Weaver KN, Waclaw RR, Robinson JE.   +24 more
europepmc   +1 more source

The Clinical Utility of Sequence-Based Genetic Testing for Fetal Edema Following Non-Diagnostic Microarray Results: A Population-Based Cohort Study. [PDF]

Prenat Diagn
Allen VM, Arts HH, Schollenberg E, Kinley S, Aberg E, Brock JK.   +5 more
europepmc   +1 more source

Childhood-onset RASopathy-associated hypertrophic cardiomyopathy, diastolic dysfunction, and arrhythmias. [PDF]

Eur Heart J
Boleti OD, Roussos S, Monda E, Norrish G, Field E, Cervi E, Bakalakos A, Fernandes P, McLeod K, Ilina M, Khodaghalian B, Jones C, Escudero F, Castro F, Ali MNL, Bharucha T, Nepali G, Bhole V, Delle Donne G, Brown E, Gimeno JR, Elliott PM, Wolf C, Limongelli G, Kaski JP.   +24 more
europepmc   +1 more source

Severe Thrombocytopenia and Facial Asymmetry in a Mexican Patient with Noonan Syndrome-Like Disorder with Loose Anagen Hair: Clinical Observations and Diagnostic Considerations. [PDF]

Mol Syndromol
León-Madero LF, Martínez-Balda AS, Venegas-Vega CA.   +2 more
europepmc   +1 more source

Ossification of Mandibular Central Giant Cell Granuloma (CGCG) in Neurofibromatosis Type 1 Patients. [PDF]

Cancer Diagn Progn
Friedrich RE, Kohlrusch FK, Hagel C, Gosau M.   +3 more
europepmc   +1 more source

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections. [PDF]

Prenat Diagn
Gulrajani NB, Boscardin J, Lianoglou BR, Tick K, Santoli CMA, Miller KA, Jelin AC, Dugoff L, Giardine R, Feist C, Pilliod R, Dukhovny S, Gilmore K, Vora NL, Murphy A, Robinson PN, Norton ME, Sparks TN.   +17 more
europepmc   +1 more source

Cardiofaciocutaneous Syndrome Type 4 due to a MAP2K2 Variant: Expanding the Phenotypic Spectrum With Feeding Dysfunction and Neurodevelopmental Involvement. [PDF]

Clin Case Rep
Świeca A, Rydzanicz M, Ploski R, Szczałuba K.   +3 more
europepmc   +1 more source