BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

481 related articles for article (PubMed ID: 27264673)

  • 21. Noonan syndrome and clinically related disorders.
    Tartaglia M; Gelb BD; Zenker M
    Best Pract Res Clin Endocrinol Metab; 2011 Feb; 25(1):161-79. PubMed ID: 21396583
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Mutation and Phenotypic Spectrum of Patients With RASopathies.
    Lallar M; Bijarnia-Mahay S; Verma IC; Mandal K; Puri RD
    Indian Pediatr; 2021 Jan; 58(1):30-33. PubMed ID: 33452774
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.
    Ekvall S; Hagenäs L; Allanson J; Annerén G; Bondeson ML
    Am J Med Genet A; 2011 Jun; 155A(6):1217-24. PubMed ID: 21548061
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations.
    Capalbo D; Melis D; De Martino L; Palamaro L; Riccomagno S; Bona G; Cordeddu V; Pignata C; Salerno M
    Am J Med Genet A; 2012 Apr; 158A(4):856-60. PubMed ID: 22419608
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Further evidence of the importance of RIT1 in Noonan syndrome.
    Bertola DR; Yamamoto GL; Almeida TF; Buscarilli M; Jorge AA; Malaquias AC; Kim CA; Takahashi VN; Passos-Bueno MR; Pereira AC
    Am J Med Genet A; 2014 Nov; 164A(11):2952-7. PubMed ID: 25124994
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Improved growth velocity of a patient with Noonan-like syndrome with loose anagen hair (NS/LAH) without growth hormone deficiency by low-dose growth hormone therapy.
    Takasawa K; Takishima S; Morioka C; Nishioka M; Ohashi H; Aoki Y; Shimohira M; Kashimada K; Morio T
    Am J Med Genet A; 2015 Oct; 167A(10):2425-9. PubMed ID: 26096762
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients].
    Carcavilla A; García-Miñaúr S; Pérez-Aytés A; Vendrell T; Pinto I; Guillén-Navarro E; González-Meneses A; Aoki Y; Grinberg D; Ezquieta B
    Med Clin (Barc); 2015 Jan; 144(2):67-72. PubMed ID: 25194980
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.
    Ekvall S; Sjörs K; Jonzon A; Vihinen M; Annerén G; Bondeson ML
    Am J Med Genet A; 2014 Mar; 164A(3):579-87. PubMed ID: 24357598
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Noonan-like syndrome with loose anagen hair: a new syndrome?
    Mazzanti L; Cacciari E; Cicognani A; Bergamaschi R; Scarano E; Forabosco A
    Am J Med Genet A; 2003 Apr; 118A(3):279-86. PubMed ID: 12673660
    [TBL] [Abstract][Full Text] [Related]  

  • 30. SHOC2-MRAS-PP1 complex positively regulates RAF activity and contributes to Noonan syndrome pathogenesis.
    Young LC; Hartig N; Boned Del Río I; Sari S; Ringham-Terry B; Wainwright JR; Jones GG; McCormick F; Rodriguez-Viciana P
    Proc Natl Acad Sci U S A; 2018 Nov; 115(45):E10576-E10585. PubMed ID: 30348783
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A Novel SHOC2 Variant in Rasopathy.
    Hannig V; Jeoung M; Jang ER; Phillips JA; Galperin E
    Hum Mutat; 2014 Nov; 35(11):1290-4. PubMed ID: 25137548
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.
    Ueda K; Yaoita M; Niihori T; Aoki Y; Okamoto N
    Am J Med Genet A; 2017 Sep; 173(9):2346-2352. PubMed ID: 28650561
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Severe craniosynostosis with Noonan syndrome phenotype associated with SHOC2 mutation: clinical evidence of crosslink between FGFR and RAS signaling pathways.
    Takenouchi T; Sakamoto Y; Miwa T; Torii C; Kosaki R; Kishi K; Takahashi T; Kosaki K
    Am J Med Genet A; 2014 Nov; 164A(11):2869-72. PubMed ID: 25123707
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy.
    Motta M; Giancotti A; Mastromoro G; Chandramouli B; Pinna V; Pantaleoni F; Di Giosaffatte N; Petrini S; Mazza T; D'Ambrosio V; Versacci P; Ventriglia F; Chillemi G; Pizzuti A; Tartaglia M; De Luca A
    Hum Mutat; 2019 Aug; 40(8):1046-1056. PubMed ID: 31059601
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Co-Occurring Thrombotic Thrombocytopenic Purpura and Autoimmune Hemolytic Anemia in a Child Carrying the Pathogenic SHOC2 c.4A>G (p.Ser2Gly) Variant.
    Liu L; Hu C; Chen Z; Zhu S; Zhu L
    Am J Case Rep; 2023 Nov; 24():e942377. PubMed ID: 38019730
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
    Aoki Y; Niihori T; Banjo T; Okamoto N; Mizuno S; Kurosawa K; Ogata T; Takada F; Yano M; Ando T; Hoshika T; Barnett C; Ohashi H; Kawame H; Hasegawa T; Okutani T; Nagashima T; Hasegawa S; Funayama R; Nagashima T; Nakayama K; Inoue S; Watanabe Y; Ogura T; Matsubara Y
    Am J Hum Genet; 2013 Jul; 93(1):173-80. PubMed ID: 23791108
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Systemic lupus erythematosus in a patient with Noonan syndrome-like disorder with loose anagen hair 1: More than a chance association.
    Uehara T; Hosogaya N; Matsuo N; Kosaki K
    Am J Med Genet A; 2018 Jul; 176(7):1662-1666. PubMed ID: 29737035
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.
    Athota JP; Bhat M; Nampoothiri S; Gowrishankar K; Narayanachar SG; Puttamallesh V; Farooque MO; Shetty S
    BMC Med Genet; 2020 Mar; 21(1):50. PubMed ID: 32164556
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.
    Addissie YA; Kotecha U; Hart RA; Martinez AF; Kruszka P; Muenke M
    Am J Med Genet A; 2015 Nov; 167A(11):2657-63. PubMed ID: 26249544
    [TBL] [Abstract][Full Text] [Related]  

  • 40. [Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway].
    Ejarque I; Millán-Salvador JM; Oltra S; Pesudo-Martínez JV; Beneyto M; Pérez-Aytés A
    Rev Neurol; 2015 May; 60(9):408-12. PubMed ID: 25912702
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 25.