BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

160 related articles for article (PubMed ID: 37692036)

  • 61. Severe, early onset hypertrophic cardiomyopathy in a family with LEOPARD syndrome.
    Limongelli G; Pacileo G; Russo MG; Sarkozy A; Felicetti M; Di Salvo G; Morelli C; Calabrò P; Paladini D; Marino B; Dallapiccola B; Calabrò R
    J Prenat Med; 2008 Apr; 2(2):24-6. PubMed ID: 22439023
    [TBL] [Abstract][Full Text] [Related]  

  • 62. Cochlear Implantation in Noonan Syndrome With and Without Multiple Lentigines: A Case Report and Systematic Review.
    Blumenthal D; Lovett B; Leonard J; Wang S; Blumgart M; Hoa M
    Otol Neurotol Open; 2022 Mar; 2(1):e009. PubMed ID: 38515811
    [TBL] [Abstract][Full Text] [Related]  

  • 63. Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.
    Kobayashi T; Aoki Y; Niihori T; Cavé H; Verloes A; Okamoto N; Kawame H; Fujiwara I; Takada F; Ohata T; Sakazume S; Ando T; Nakagawa N; Lapunzina P; Meneses AG; Gillessen-Kaesbach G; Wieczorek D; Kurosawa K; Mizuno S; Ohashi H; David A; Philip N; Guliyeva A; Narumi Y; Kure S; Tsuchiya S; Matsubara Y
    Hum Mutat; 2010 Mar; 31(3):284-94. PubMed ID: 20052757
    [TBL] [Abstract][Full Text] [Related]  

  • 64. LEOPARD Syndrome Caused by Tyr279Cys Mutation in the PTPN11 Gene.
    Martínez-Quintana E; Rodríguez-González F
    Mol Syndromol; 2012 Apr; 2(6):251-253. PubMed ID: 22822385
    [TBL] [Abstract][Full Text] [Related]  

  • 65. Out-of-hospital cardiac arrest and survival in a patient with Noonan syndrome and multiple lentigines: a case report.
    Eichhorn C; Voges I; Daubeney PEF
    J Med Case Rep; 2019 Jun; 13(1):194. PubMed ID: 31208451
    [TBL] [Abstract][Full Text] [Related]  

  • 66. Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation.
    Bessis D; Miquel J; Bourrat E; Chiaverini C; Morice-Picard F; Abadie C; Manna F; Baumann C; Best M; Blanchet P; Bursztejn AC; Capri Y; Coubes C; Giuliano F; Guillaumont S; Hadj-Rabia S; Jacquemont ML; Jeandel C; Lacombe D; Mallet S; Mazereeuw-Hautier J; Molinari N; Pallure V; Pernet C; Philip N; Pinson L; Sarda P; Sigaudy S; Vial Y; Willems M; Geneviève D; Verloes A; Cavé H
    Br J Dermatol; 2019 Jun; 180(6):1438-1448. PubMed ID: 30417923
    [TBL] [Abstract][Full Text] [Related]  

  • 67. Expanding the cardiac spectrum of Noonan syndrome with RIT1 variant: Left main coronary artery atresia causing sudden death.
    Ramond F; Duband S; Croisille P; Cavé H; Teyssier G; Adouard V; Touraine R
    Eur J Med Genet; 2017 Jun; 60(6):299-302. PubMed ID: 28347726
    [TBL] [Abstract][Full Text] [Related]  

  • 68. Effects of Noonan Syndrome-Germline Mutations on Mitochondria and Energy Metabolism.
    Bajia D; Bottani E; Derwich K
    Cells; 2022 Oct; 11(19):. PubMed ID: 36231062
    [TBL] [Abstract][Full Text] [Related]  

  • 69. Leopard syndrome: the potential cardiac defect underlying skin phenotypes.
    Yue X; Zhao X; Dai Y; Yu L
    Hereditas; 2021 Sep; 158(1):34. PubMed ID: 34488904
    [TBL] [Abstract][Full Text] [Related]  

  • 70. Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients.
    Levin MD; Saitta SC; Gripp KW; Wenger TL; Ganesh J; Kalish JM; Epstein MR; Smith R; Czosek RJ; Ware SM; Goldenberg P; Myers A; Chatfield KC; Gillespie MJ; Zackai EH; Lin AE
    Am J Med Genet A; 2018 Aug; 176(8):1711-1722. PubMed ID: 30055033
    [TBL] [Abstract][Full Text] [Related]  

  • 71. Modeling (not so) rare developmental disorders associated with mutations in the protein-tyrosine phosphatase SHP2.
    Solman M; Woutersen DTJ; den Hertog J
    Front Cell Dev Biol; 2022; 10():1046415. PubMed ID: 36407105
    [TBL] [Abstract][Full Text] [Related]  

  • 72. PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.
    Kosaki K; Suzuki T; Muroya K; Hasegawa T; Sato S; Matsuo N; Kosaki R; Nagai T; Hasegawa Y; Ogata T
    J Clin Endocrinol Metab; 2002 Aug; 87(8):3529-33. PubMed ID: 12161469
    [TBL] [Abstract][Full Text] [Related]  

  • 73. Noonan syndrome: clinical aspects and molecular pathogenesis.
    Tartaglia M; Zampino G; Gelb BD
    Mol Syndromol; 2010 Feb; 1(1):2-26. PubMed ID: 20648242
    [TBL] [Abstract][Full Text] [Related]  

  • 74. Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines).
    Piard J; Verloes A; Cavé H; Peuchmaur M; Bennaceur S; Leheup B
    Am J Med Genet A; 2012 Jun; 158A(6):1406-10. PubMed ID: 22528600
    [TBL] [Abstract][Full Text] [Related]  

  • 75. The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
    Aoki Y; Niihori T; Narumi Y; Kure S; Matsubara Y
    Hum Mutat; 2008 Aug; 29(8):992-1006. PubMed ID: 18470943
    [TBL] [Abstract][Full Text] [Related]  

  • 76. PTPN11 mutation associated with aortic dilation and hypertrophic cardiomyopathy in a pediatric patient with Noonan syndrome.
    Jefferies JL; Belmont JW; Pignatelli R; Towbin JA; Craigen WJ
    Pediatr Cardiol; 2010 Jan; 31(1):114-6. PubMed ID: 19795160
    [TBL] [Abstract][Full Text] [Related]  

  • 77. Electrocardiography in Noonan syndrome PTPN11 gene mutation--phenotype characterization.
    Croonen EA; van der Burgt I; Kapusta L; Draaisma JM
    Am J Med Genet A; 2008 Feb; 146A(3):350-3. PubMed ID: 18203203
    [TBL] [Abstract][Full Text] [Related]  

  • 78. Mutation in NRAS in familial Noonan syndrome--case report and review of the literature.
    Ekvall S; Wilbe M; Dahlgren J; Legius E; van Haeringen A; Westphal O; Annerén G; Bondeson ML
    BMC Med Genet; 2015 Oct; 16():95. PubMed ID: 26467218
    [TBL] [Abstract][Full Text] [Related]  

  • 79. 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]  

  • 80. OPTIC DISK COLOBOMA AND CONTRALATERAL OPTIC DISK PIT MACULOPATHY TREATED BY VITRECTOMY IN A PATIENT WITH NOONAN SYNDROME WITH MULTIPLE LENTIGINES.
    Van den Heurck JJ; Boven KB; Claes CC
    Retin Cases Brief Rep; 2023 Mar; 17(2):212-218. PubMed ID: 34009903
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.