These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

193 related articles for article (PubMed ID: 14634749)

  • 1. [Molecular genetic mutation analysis of the PTPN11 gene in the multiple lentigines (LEOPARD) syndrome].
    Froster UG; Glander HJ; Heinritz W
    Hautarzt; 2003 Dec; 54(12):1190-2. PubMed ID: 14634749
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations.
    Digilio MC; Pacileo G; Sarkozy A; Limongelli G; Conti E; Cerrato F; Marino B; Pizzuti A; Calabrò R; Dallapiccola B
    Birth Defects Res A Clin Mol Teratol; 2004 Feb; 70(2):95-8. PubMed ID: 14991917
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome.
    Sarkozy A; Obregon MG; Conti E; Esposito G; Mingarelli R; Pizzuti A; Dallapiccola B
    Eur J Hum Genet; 2004 Dec; 12(12):1069-72. PubMed ID: 15470362
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [PTPN11 gene mutation in LEOPARD syndrome].
    Paradisi M; Pedicelli C; Ciasulli A; Pinto F; Conti E; Sarkozy A; Angelo C
    Minerva Pediatr; 2005 Aug; 57(4):189-93. PubMed ID: 16172598
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.
    Schollen E; Matthijs G; Gewillig M; Fryns JP; Legius E
    Eur J Hum Genet; 2003 Jan; 11(1):85-8. PubMed ID: 12529711
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Noonan syndrome and Leopard syndrome linked to mutation of the gene PTPN11].
    Dereure O
    Ann Dermatol Venereol; 2005 Apr; 132(4):400. PubMed ID: 15886577
    [No Abstract]   [Full Text] [Related]  

  • 13. 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]  

  • 14. PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects.
    Kontaridis MI; Swanson KD; David FS; Barford D; Neel BG
    J Biol Chem; 2006 Mar; 281(10):6785-92. PubMed ID: 16377799
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2-related disorders.
    Lorca R; Pannone L; Cuesta-Llavona E; Bocchinfuso G; Rodríguez-Reguero J; Carpentieri G; Hernando I; Flex E; Tartaglia M; Coto E; Gómez J; Martinelli S
    Clin Genet; 2021 Mar; 99(3):457-461. PubMed ID: 33354767
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes.
    Ogata T; Yoshida R
    Pediatr Endocrinol Rev; 2005 Jun; 2(4):669-74. PubMed ID: 16208280
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.