BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

203 related articles for article (PubMed ID: 28211982)

  • 1. The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.
    Bertola D; Yamamoto G; Buscarilli M; Jorge A; Passos-Bueno MR; Kim C
    Am J Med Genet A; 2017 Mar; 173(3):824-828. PubMed ID: 28211982
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.
    Gripp KW; Aldinger KA; Bennett JT; Baker L; Tusi J; Powell-Hamilton N; Stabley D; Sol-Church K; Timms AE; Dobyns WB
    Am J Med Genet A; 2016 Sep; 170(9):2237-47. PubMed ID: 27264673
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Noonan syndrome with loose anagen hair with variants in the PPP1CB gene: First familial case reported.
    Huckstadt V; Chinton J; Gomez A; Obregon MG; Gravina LP
    Am J Med Genet A; 2021 Apr; 185(4):1256-1260. PubMed ID: 33491856
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A case report of Noonan syndrome-like disorder with loose anagen hair 2 treated with recombinant human growth hormone.
    Zhou P; Zhu L; Fan Q; Liu Y; Zhang T; Yang T; Chen J; Cheng Q; Li T; Chen L
    Am J Med Genet A; 2020 Aug; 182(8):1967-1971. PubMed ID: 32476286
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Two Japanese patients with Noonan syndrome-like disorder with loose anagen hair 2.
    Maruwaka K; Nakajima Y; Yamada T; Tanaka T; Kosaki R; Inagaki H; Kosaki K; Kurahashi H
    Am J Med Genet A; 2022 Jul; 188(7):2246-2250. PubMed ID: 35338599
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Cleft palate and hypopituitarism in a patient with Noonan-like syndrome with loose anagen hair-1.
    Couser NL; Keelean-Fuller D; Davenport ML; Haverfield E; Masood MM; Henin M; Aylsworth AS
    Am J Med Genet A; 2018 Sep; 176(9):2024-2027. PubMed ID: 30240112
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair.
    Zambrano RM; Marble M; Chalew SA; Lilje C; Vargas A; Lacassie Y
    Am J Med Genet A; 2017 Feb; 173(2):565-567. PubMed ID: 27868344
    [No Abstract]   [Full Text] [Related]  

  • 8. ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes.
    Akgun-Dogan O; Simsek-Kiper PO; Taskiran E; Lissewski C; Brinkmann J; Schanze D; Göçmen R; Cagdas D; Bilginer Y; Utine GE; Zenker M; Ozen S; Tezcan İ; Alikasifoglu M; Boduroğlu K
    Am J Med Genet A; 2019 Dec; 179(12):2474-2480. PubMed ID: 31584751
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Moyamoya syndrome in a patient with Noonan-like syndrome with loose anagen hair.
    Choi JH; Oh MY; Yum MS; Lee BH; Kim GH; Yoo HW
    Pediatr Neurol; 2015 Mar; 52(3):352-5. PubMed ID: 25563136
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Coarctation of the aorta in Noonan-like syndrome with loose anagen hair.
    Zmolikova M; Puchmajerova A; Hecht P; Lebl J; Trkova M; Krepelova A
    Am J Med Genet A; 2014 May; 164A(5):1218-21. PubMed ID: 24458596
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.
    Gripp KW; Zand DJ; Demmer L; Anderson CE; Dobyns WB; Zackai EH; Denenberg E; Jenny K; Stabley DL; Sol-Church K
    Am J Med Genet A; 2013 Oct; 161A(10):2420-30. PubMed ID: 23918763
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Epileptic spasms in PPP1CB-associated Noonan-like syndrome: a case report with clinical and therapeutic implications.
    Lin CH; Lin WD; Chou IC; Lee IC; Fan HC; Hong SY
    BMC Neurol; 2018 Sep; 18(1):150. PubMed ID: 30236064
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Clinical overview on RASopathies.
    Zenker M
    Am J Med Genet C Semin Med Genet; 2022 Dec; 190(4):414-424. PubMed ID: 36428239
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.
    Umeki I; Niihori T; Abe T; Kanno SI; Okamoto N; Mizuno S; Kurosawa K; Nagasaki K; Yoshida M; Ohashi H; Inoue SI; Matsubara Y; Fujiwara I; Kure S; Aoki Y
    Hum Genet; 2019 Jan; 138(1):21-35. PubMed ID: 30368668
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Moyamoya disease in two patients with Noonan-like syndrome with loose anagen hair.
    Lo FS; Wang CJ; Wong MC; Lee NC
    Am J Med Genet A; 2015 Jun; 167(6):1285-8. PubMed ID: 25858597
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Phenotypic variability associated with the invariant SHOC2 c.4A>G (p.Ser2Gly) missense mutation.
    Baldassarre G; Mussa A; Banaudi E; Rossi C; Tartaglia M; Silengo M; Ferrero GB
    Am J Med Genet A; 2014 Dec; 164A(12):3120-5. PubMed ID: 25331583
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastoma.
    Garavelli L; Cordeddu V; Errico S; Bertolini P; Street ME; Rosato S; Pollazzon M; Wischmeijer A; Ivanovski I; Daniele P; Bacchini E; Lombardi AA; Izzi G; Biasucci G; Del Rossi C; Corradi D; Cazzaniga G; Dominici C; Rossi C; De Luca A; Bernasconi S; Riccardi R; Legius E; Tartaglia M
    Am J Med Genet A; 2015 Aug; 167A(8):1902-7. PubMed ID: 25846317
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.