BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

140 related articles for article (PubMed ID: 22439023)

  • 21. Phenotypical diversity of patients with LEOPARD syndrome carrying the worldwide recurrent p.Tyr279Cys PTPN11 mutation.
    Nemes E; Farkas K; Kocsis-Deák B; Drubi A; Sulák A; Tripolszki K; Dósa P; Ferenc L; Nagy N; Széll M
    Arch Dermatol Res; 2015 Dec; 307(10):891-5. PubMed ID: 26377839
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.
    Digilio MC; Conti E; Sarkozy A; Mingarelli R; Dottorini T; Marino B; Pizzuti A; Dallapiccola B
    Am J Hum Genet; 2002 Aug; 71(2):389-94. PubMed ID: 12058348
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome.
    Carvajal-Vergara X; Sevilla A; D'Souza SL; Ang YS; Schaniel C; Lee DF; Yang L; Kaplan AD; Adler ED; Rozov R; Ge Y; Cohen N; Edelmann LJ; Chang B; Waghray A; Su J; Pardo S; Lichtenbelt KD; Tartaglia M; Gelb BD; Lemischka IR
    Nature; 2010 Jun; 465(7299):808-12. PubMed ID: 20535210
    [TBL] [Abstract][Full Text] [Related]  

  • 24. An uncommon association between skin lesions and LEOPARD syndrome affected an old patient. Case report.
    Onesti MG; Fioramonti P; Fino P; Carella S; Spinelli G; Miraglia E; Giustini S
    Ann Ital Chir; 2011; 82(1):79-82. PubMed ID: 21657161
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome.
    Limongelli G; Sarkozy A; Pacileo G; Calabrò P; Digilio MC; Maddaloni V; Gagliardi G; Di Salvo G; Iacomino M; Marino B; Dallapiccola B; Calabrò R
    Am J Med Genet A; 2008 Mar; 146A(5):620-8. PubMed ID: 18241070
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.
    Kalidas K; Shaw AC; Crosby AH; Newbury-Ecob R; Greenhalgh L; Temple IK; Law C; Patel A; Patton MA; Jeffery S
    J Hum Genet; 2005; 50(1):21-25. PubMed ID: 15690106
    [TBL] [Abstract][Full Text] [Related]  

  • 27. A standard echocardiographic and tissue Doppler study of morphological and functional findings in children with hypertrophic cardiomyopathy compared to those with left ventricular hypertrophy in the setting of Noonan and LEOPARD syndromes.
    Cerrato F; Pacileo G; Limongelli G; Gagliardi MG; Santoro G; Digilio MC; Di Salvo G; Ardorisio R; Miele T; Calabrò R
    Cardiol Young; 2008 Dec; 18(6):575-80. PubMed ID: 18842161
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines.
    Nishi E; Mizuno S; Nanjo Y; Niihori T; Fukushima Y; Matsubara Y; Aoki Y; Kosho T
    Am J Med Genet A; 2015 Feb; 167A(2):407-11. PubMed ID: 25423878
    [TBL] [Abstract][Full Text] [Related]  

  • 29. PTPN11 mutations in LEOPARD syndrome: report of four cases in Taiwan.
    Lin IS; Wang JN; Chao SC; Wu JM; Lin SJ
    J Formos Med Assoc; 2009 Oct; 108(10):803-7. PubMed ID: 19864201
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Anaesthetic implications of LEOPARD syndrome.
    Torres J; Russo P; Tobias JD
    Paediatr Anaesth; 2004 Apr; 14(4):352-6. PubMed ID: 15078383
    [TBL] [Abstract][Full Text] [Related]  

  • 31. The First Vietnamese Patient of LEOPARD Syndrome due to a
    Nguyen HT; Pham NN; Anh Vu H; Tran TNA
    Case Rep Genet; 2021; 2021():8197435. PubMed ID: 34552798
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. Patient with confirmed LEOPARD syndrome developing multiple melanoma.
    Colmant C; Franck D; Marot L; Matthijs G; Sznajer Y; Blomme S; Tromme I
    Dermatol Pract Concept; 2018 Jan; 8(1):59-62. PubMed ID: 29445579
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. Case report: Distinctive cardiac features and phenotypic characteristics of Noonan syndrome with multiple lentigines among three generations in one family.
    Chan CH; Chu MF; Lam UP; Mok TM; Tam WC; Tomlinson B; Coelho R; Évora M
    Front Cardiovasc Med; 2023; 10():1225667. PubMed ID: 37692036
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A rare cause of dyspnoea: the LEOPARD syndrome.
    Demir S; Karakaya Z; Sagay S
    J Pak Med Assoc; 2013 Apr; 63(4):527-9. PubMed ID: 23905457
    [TBL] [Abstract][Full Text] [Related]  

  • 37. PTPN11 mutations in LEOPARD syndrome.
    Legius E; Schrander-Stumpel C; Schollen E; Pulles-Heintzberger C; Gewillig M; Fryns JP
    J Med Genet; 2002 Aug; 39(8):571-4. PubMed ID: 12161596
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Cardiomyopathic lentiginosis/LEOPARD syndrome presenting as sudden cardiac arrest.
    Woywodt A; Welzel J; Haase H; Duerholz A; Wiegand U; Potratz J; Sheikhzadeh A
    Chest; 1998 May; 113(5):1415-7. PubMed ID: 9596329
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines.
    Conboy E; Dhamija R; Wang M; Xie J; Dyck PJ; Bridges AG; Spinner RJ; Clayton AC; Watson RE; Messiaen L; Babovic-Vuksanovic D
    J Med Genet; 2016 Feb; 53(2):123-6. PubMed ID: 26337637
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A LEOPARD mimicking ST-elevation myocardial infarction.
    Bagur R; Bertrand OF; Bataille Y; Noël B; Rodés-Cabau J
    Am J Cardiol; 2011 Jul; 108(1):169-71. PubMed ID: 21529747
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.