Results 81 to 90 of about 1,575 (156)

Hyperactivation of MEK1 in cortical glutamatergic neurons results in projection axon deficits and aberrant motor learning

Disease Models & Mechanisms
George R. Bjorklund, Katherina P. Rees, Kavya Balasubramanian, Lauren T. Hewitt, Kenji Nishimura, Jason M. Newbern   +5 more
doaj   +1 more source

Wide Ranging Neurobehavioral Phenotype in Individuals With Costello Syndrome. [PDF]

Am J Med Genet A
Curlee MS, Siegel A, Little P, Toledo-Tamula MA, Martin S, Gross AM, Yohe ME, Aryavand M, Frone MN, Ney GM, Stewart DR, Wolters PL.   +11 more
europepmc   +1 more source

RASopathies – what they reveal about RAS/MAPK signaling in skeletal muscle development

Disease Models & Mechanisms
Katherine A. Rauen, William E. Tidyman
doaj   +1 more source

Patient and caregiver perspectives on neurodevelopmental and mental health care for RASopathies. [PDF]

Ther Adv Rare Dis
Elizondo EM, Floyd AM, Foy AMH, Rogers DJ, Çakır-Dilek B, Manternach M, Simacek J, Hudock RL, Pierpont EI.   +8 more
europepmc   +1 more source

Yield of RASopathy Gene Panel in Karyotype-Normal or Microarray-Normal Fetuses With Increased Nuchal Translucency: A Systematic Review and Meta-Analysis. [PDF]

O G Open
Powel JE, Barbera JP, Raymond MB, McLaren R, Rice SM, Russo ML, Makhamreh MM, Al-Kouatly HB.   +7 more
europepmc   +1 more source

Molecular and Clinical Profiles of Patients with RASopathies: Targeted Next-Generation Sequencing Panel Results and Identification of 14 Novel Disease-Causing Variants. [PDF]

Mol Syndromol
Ates K, Ozturk M, Esener Z, Dogan M, Gezdirici A, Sarac H, Yeninarcilar B, Fettahlioglu A, Camtosun E, Dundar I, Güngör S, Ozgor B, Tekedereli I.   +12 more
europepmc   +1 more source

The impact of RAS on cell differentiation in health and disease. [PDF]

Biochem J
Duval CJ, Bottone S, Schaffner-Reckinger E, Abankwa DK.   +3 more
europepmc   +1 more source

Molecular Diagnosis and Phenotypic Variability of Noonan Syndrome: Experience from a Romanian Multicenter Study. [PDF]

Diagnostics (Basel)
Nazarie FV, Dobrescu MA, Lazea C, David AA, Șufană C, Bucerzan S, Cainap SS, Rancea R, Stănoiu-Pînzariu O, Pascanu IM, Popp RA, Pop LA, Lazăr C, Alkhzouz C, Miclea D, Vulturar R.   +15 more
europepmc   +1 more source

Advancing edge-based clustering and graph embedding for biological network analysis: a case study in RASopathies. [PDF]

Brief Bioinform
García-Criado F, Seoane P, Rojano E, Ranea JAG, Perkins JR.   +4 more
europepmc   +1 more source

Cardiovascular aspects of Noonan syndrome and related disorders. [PDF]

Med Genet
Zenker M, Wolf CM.
europepmc   +1 more source