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Detection rate and mutational landscape in extracranial arteriovenous malformat…

Schmidt(VF),Schanze(D),Brill(R),Loeser(JH),U… BMC Med 2026-04-16

...RIT1, RAF1, and GNA14 (each 0.9%, 1/114). Within the RAS/MAPK pathway, RAS variants (KRAS, HRAS) were linked to more sev...

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic R…

Prevedello(F),Ali(DS),Piccolo(C),Rigon(C),Fo… Am J Med Genet A 2026-08-00

...RIT1 variant (c.229G>C, p.(Ala77Pro), 16.45% VAF), both meeting criteria for pathogenicity. The RIT1 variant was validat...

Transcriptional profiling of circulating extracellular vesicles from prebiopsy …

Werner(S),Tennstedt(P),Pose(RC),Müller(C),Be… Mol Oncol 2026-03-26

...RIT1, S100A2, THBS1, and XRCC2 were significantly elevated in EVs from patients with significant prostate cancer (n = 14...

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome…

Rice(SM),Makhamreh(MM),Wodoslawsky(S),Toro(M… Am J Med Genet A 2026-08-20

...RIT1, SOS1, RYR1, FLT4, LMOD2, KMT2D, PUF60, and BLTP1. Two additional cases were diagnosed upon reclassification of unc...

Epithelial Cell-Specific Prognostic Signature (FTH1, RIT1, WASL, NDRG2, KIFC3) …

Wang(X),Pan(X),Li(X),Ding(B),Jin(Z),Wang(X),… Hum Mutat None

...RIT1, WASL, NDRG2, and KIFC3) was constructed. The resulting risk model effectively stratified patients into high- and l...

Clinical and Molecular characteristics of kidney and urinary tract congenital a…

Ammar(THA),Ahmed(HM),Mohammed(EEA),El-Hariri… Mol Biol Rep 2026-05-14

...RIT1 mutation in Egypt and the first confirmed association of RIT1 with renal anomalies in NS-8. Expanding genomic scree...

Chemical profiling, proximate composition, and antibacterial, antioxidant, anti…

Sureshkumar(J),Prabhu(S),Mariraj(M),Amalraj(… Microb Pathog 2026-05-00

...Rit1 had docking scores ranging from -11.496 to -0.012 kcal/mol, whereas those for the T-cell receptor beta chain ranged...

Neonatal Noonan syndrome with acute kidney injury and systemic capillary leak s…

Gao(C),Kong(F),Tao(X) Front Pediatr None

...RIT1 c.247A>C (p.Thr83Pro), and to expand the understanding of life-threatening presentations in neonatal RIT1 associate...

Case Report: Contrasting phenotypes of arrhythmogenic cardiomyopathy: classic d…

Park(BE),Yang(DH) Front Cardiovasc Med None

...RIT1 variant was identified without desmosomal mutations. This case was interpreted as a RASopathy-associated arrhythmog...

Clinical and Molecular Portraits of Pediatric RASopathies: A Study of 118 Genot…

Genç(A),Sarıkaya(E),Ceylan(AC),Çavdarlı(B),Ç… Clin Genet 2026-09-00

...RIT1, RAF1, HRAS, BRAF, RASA2, KRAS, CBL, SHOC2, and MAP2K2. In addition to well-established genotype-phenotype correlat...

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