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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
MeSH Review

LEOPARD Syndrome

 
 
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Disease relevance of LEOPARD Syndrome

 

High impact information on LEOPARD Syndrome

 

Biological context of LEOPARD Syndrome

 

Gene context of LEOPARD Syndrome

References

  1. Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. Digilio, M.C., Conti, E., Sarkozy, A., Mingarelli, R., Dottorini, T., Marino, B., Pizzuti, A., Dallapiccola, B. Am. J. Hum. Genet. (2002) [Pubmed]
  2. Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. Sarkozy, A., Conti, E., Seripa, D., Digilio, M.C., Grifone, N., Tandoi, C., Fazio, V.M., Di Ciommo, V., Marino, B., Pizzuti, A., Dallapiccola, B. J. Med. Genet. (2003) [Pubmed]
  3. Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome. Wu, R., Legius, E., Robberecht, W., Dumoulin, M., Cassiman, J.J., Fryns, J.P. Hum. Mutat. (1996) [Pubmed]
  4. LEOPARD syndrome and hypertrophic obstructive cardiomyopathy: a case report. Cetinkaya, E., Günal, N., Sönmez, N., Aycan, Z., Vidinlisan, S., Kahramanyol, O., Paşaoğlu, I. Turk. J. Pediatr. (2004) [Pubmed]
  5. Generalized lentiginosis in two children lacking systemic associations: case report and review of the literature. Chong, W.S., Klanwarin, W., Giam, Y.C. Pediatric dermatology. (2004) [Pubmed]
  6. Noonan syndrome and its related disorders. Fukushima, Y. Acta paediatrica Japonica; Overseas edition. (1996) [Pubmed]
  7. Primary pulmonary hypertension in leopard syndrome. Blieden, L.C., Schneeweiss, A., Neufeld, H.N. British heart journal. (1981) [Pubmed]
  8. Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11. Kalidas, K., Shaw, A.C., Crosby, A.H., Newbury-Ecob, R., Greenhalgh, L., Temple, I.K., Law, C., Patel, A., Patton, M.A., Jeffery, S. J. Hum. Genet. (2005) [Pubmed]
  9. PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects. Kontaridis, M.I., Swanson, K.D., David, F.S., Barford, D., Neel, B.G. J. Biol. Chem. (2006) [Pubmed]
 
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