Results 91 to 100 of about 2,361 (178)

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

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

Restoring the 14-3-3/CRAF regulatory interaction in Noonan syndrome using molecular glues. [PDF]

Proc Natl Acad Sci U S A
Virta JM, Vickery HR, Konstantinidou M, Crawford MC, Pennings MAM, Ottmann C, Brunsveld L, Arkin MR.   +7 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

Encephalocraniocutaneous lipomatosis: a rare and sporadic phakomatosis. [PDF]

An Bras Dermatol
Palhano ACM, Neumayer JMO, Ferradoza MTN, Samorano LP, Rivitti-Machado MC, de Oliveira ZNP.   +5 more
europepmc   +1 more source

Germline activating sequence variations in RASopathy spectrum genes: genotype-phenotype correlation in a North Indian cohort. [PDF]

Front Genet
Gupta S, Srivastava P, Daniel R, Bhardwaj C, Kaur P, Bawa P, Kumari A, Bhadoriya RPS, Peters M, Kaur A, Panigrahi I.   +10 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

An Overview of Genetics of Moyamoya: Beyond <i>RNF213</i> Gene. [PDF]

Int J Mol Sci
Sorte G, Cantone M, Bella R, Salemi M, Zedde M, Zappia M.   +5 more
europepmc   +1 more source

Largely preserved vestibular function despite severe-to-profound hearing loss in Noonan syndrome spectrum disorders. [PDF]

Eur Arch Otorhinolaryngol
Koda K, Ichijo K, Kamogashira T, Kinoshita M, Oka M, Kondo K, Fujimoto C.   +6 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