BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

188 related articles for article (PubMed ID: 21365175)

  • 1. LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria.
    Carcavilla A; Pinto I; Muñoz-Pacheco R; Barrio R; Martin-Frías M; Ezquieta B
    Eur J Pediatr; 2011 Aug; 170(8):1069-74. PubMed ID: 21365175
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.
    Thiel C; Wilken M; Zenker M; Sticht H; Fahsold R; Gusek-Schneider GC; Rauch A
    Am J Med Genet A; 2009 Jun; 149A(6):1263-7. PubMed ID: 19449407
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. LEOPARD syndrome: clinical diagnosis in the first year of life.
    Digilio MC; Sarkozy A; de Zorzi A; Pacileo G; Limongelli G; Mingarelli R; Calabrò R; Marino B; Dallapiccola B
    Am J Med Genet A; 2006 Apr; 140(7):740-6. PubMed ID: 16523510
    [TBL] [Abstract][Full Text] [Related]  

  • 5. LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies.
    Santoro C; Pacileo G; Limongelli G; Scianguetta S; Giugliano T; Piluso G; Ragione FD; Cirillo M; Mirone G; Perrotta S
    BMC Med Genet; 2014 Apr; 15():44. PubMed ID: 24767283
    [TBL] [Abstract][Full Text] [Related]  

  • 6. PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.
    Bertola DR; Pereira AC; Albano LM; De Oliveira PS; Kim CA; Krieger JE
    Genet Test; 2006; 10(3):186-91. PubMed ID: 17020470
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification of a PTPN11 hot spot mutation in a child with atypical LEOPARD syndrome.
    Zhang J; Shen J; Cheng R; Ni C; Liang J; Li M; Yao Z
    Mol Med Rep; 2016 Sep; 14(3):2639-43. PubMed ID: 27484170
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.
    Xu S; Fan Y; Sun Y; Wang L; Gu X; Yu Y
    BMC Med Genomics; 2017 Oct; 10(1):62. PubMed ID: 29084544
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene.
    Hüffmeier U; Zenker M; Hoyer J; Fahsold R; Rauch A
    Am J Med Genet A; 2006 Dec; 140(24):2749-56. PubMed ID: 17103458
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.
    Nyström AM; Ekvall S; Allanson J; Edeby C; Elinder M; Holmström G; Bondeson ML; Annerén G
    Clin Genet; 2009 Dec; 76(6):524-34. PubMed ID: 19845691
    [TBL] [Abstract][Full Text] [Related]  

  • 11. PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype".
    Digilio MC; Sarkozy A; Pacileo G; Limongelli G; Marino B; Dallapiccola B
    Eur J Pediatr; 2006 Nov; 165(11):803-5. PubMed ID: 16733669
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Coronary artery dilatation in LEOPARD syndrome. A child case and literature review.
    Iwasaki Y; Horigome H; Takahashi-Igari M; Kato Y; Razzaque MA; Matsuoka R
    Congenit Heart Dis; 2009; 4(1):38-41. PubMed ID: 19207402
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1.
    Witkowski L; Dillon MW; Murphy E; S Lebo M; Mason-Suares H
    Mol Genet Genomic Med; 2020 Apr; 8(4):e1180. PubMed ID: 32107864
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Familial cases of atypical clinical features genetically diagnosed as LEOPARD syndrome (multiple lentigines syndrome).
    Kato H; Yoshida R; Tsukamoto K; Suga H; Eto H; Higashino T; Araki J; Ogata T; Yoshimura K
    Int J Dermatol; 2010 Oct; 49(10):1146-51. PubMed ID: 20883402
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Leopard syndrome.
    Sarkozy A; Digilio MC; Dallapiccola B
    Orphanet J Rare Dis; 2008 May; 3():13. PubMed ID: 18505544
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11.
    van Nierop JWI; van Trier DC; van der Burgt I; Draaisma JMT; Mylanus EAM; Snik AF; Admiraal RJC; Kunst HPM
    Int J Pediatr Otorhinolaryngol; 2017 Jun; 97():228-234. PubMed ID: 28483241
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Lessons From a Genotype-Phenotype Study About the Clinical Spectrum of Hypertrophic Cardiomyopathy Associated With Noonan Syndrome With Multiple Lentigines and PTPN11-Mutations.
    Östman-Smith I
    Circ Genom Precis Med; 2023 Aug; 16(4):359-362. PubMed ID: 37325916
    [No Abstract]   [Full Text] [Related]  

  • 18. LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy.
    Carcavilla A; Santomé JL; Pinto I; Sánchez-Pozo J; Guillén-Navarro E; Martín-Frías M; Lapunzina P; Ezquieta B
    Rev Esp Cardiol (Engl Ed); 2013 May; 66(5):350-6. PubMed ID: 24775816
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS).
    Baralle D; Mattocks C; Kalidas K; Elmslie F; Whittaker J; Lees M; Ragge N; Patton MA; Winter RM; ffrench-Constant C
    Am J Med Genet A; 2003 May; 119A(1):1-8. PubMed ID: 12707950
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes.
    Sarkozy A; Schirinzi A; Lepri F; Bottillo I; De Luca A; Pizzuti A; Tartaglia M; Digilio MC; Dallapiccola B
    Am J Med Genet A; 2007 May; 143A(9):1009-11. PubMed ID: 17366582
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 10.