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Zespół LEOPARD (Polish Wikipedia)

Analysis of information sources in references of the Wikipedia article "Zespół LEOPARD" in Polish language version.

refsWebsite
Global rank Polish rank
29nih.gov
4th place
7th place
15doi.org
2nd place
6th place
1worldcat.org
5th place
2nd place
1nature.com
234th place
204th place
1omim.org
4,380th place
2,468th place

doi.org

doi.org

  • Sarkozy A, Digilio MC, Dallapiccola B. LEOPARD syndrome. „Orphanet J Rare Dis”. 3. 1, s. 13, 2008. DOI: 10.1186/1750-1172-3-13. PMID: 18505544. 
  • Digilio MC, Conti E, Sarkozy A, Mingarelli R, Dottorini T, Marino B, Pizzuti A, Dallapiccola B. Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. „Am J Hum Genet”. 71. 2, s. 389–394, 2002. DOI: 10.1086/341528. PMID: 12058348. 
  • Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, Pogna EA, Schackwitz W, Ustaszewska A, Landstrom A, Bos JM, Ommen SR, Esposito G., Lepri, Faul C, Mundel P, López Siguero JP, Tenconi R, Selicorni A, Rossi C, Mazzanti L, Torrente I, Marino B, Digilio MC, Zampino G, Ackerman MJ, Dallapiccola B, Tartaglia M, Gelb BD. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. „Nat Genet”. 39. 8, s. 1007–1012, 2007. DOI: 10.1038/ng2073. PMID: 17603483. 
  • Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. „Nat Genet”. 29. 4, s. 465–468, 2001. DOI: 10.1038/ng772. PMID: 11704759.  Korekta w „Nature Genetics”, 29 (4), 2001, s. 491, DOI: 10.1038/ng1201-491c, ISSN 1061-4036, PDF.
  • Tartaglia M, Gelb BD. Noonan syndrome and related disorders: genetics and pathogenesis. „Annu Rev Genomics Hum Genet”. 6, s. 45–68, 2005. DOI: 10.1146/annurev.genom.6.080604.162305. PMID: 16124853. 
  • Digilio MC, Sarkozy A, de Zorzi A, Pacileo G, Limongelli G, Mingarelli R, Calabrò R, Marino B, Dallapiccola B. LEOPARD syndrome: clinical diagnosis in the first year of life. „Am J Med Genet A”. 140. 7, s. 740–746, 2006. DOI: 10.1002/ajmg.a.31156. PMID: 16523510. 
  • Limongelli G, Pacileo G, Marino B, Digilio MC, Sarkozy A, Elliott P, Versacci P, Calabro P, De Zorzi A, Di Salvo G, Syrris P, Patton M, McKenna WJ, Dallapiccola B, Calabro R. Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome. „Am J Cardiol”. 100. 4, s. 736–741, 2007. DOI: 10.1016/j.amjcard.2007.03.093. PMID: 17697839. 
  • Uçar C, Calýskan U, Martini S, Heinritz W. Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive). „J Pediatr Hematol Oncol”. 28. 3, s. 123–125, 2006. DOI: 10.1097/01.mph.0000199590.21797.0b. PMID: 16679933. 
  • Merks JH, Caron HN, Hennekam RC. High incidence of malformation syndromes in a series of 1,073 children with cancer. „Am J Med Genet A”. 134A. 2, s. 132–143, 2005. DOI: 10.1002/ajmg.a.30603. PMID: 15712196. 
  • Seishima M, Mizutani Y, Shibuya Y, Arakawa C, Yoshida R, Ogata T. Malignant melanoma in a woman with LEOPARD syndrome: identification of a germline PTPN11 mutation and a somatic BRAF mutation. „Br J Dermatol”. 157. 6, s. 1297–1299, 2007. DOI: 10.1111/j.1365-2133.2007.08229.x. PMID: 17927788. 

dx.doi.org

  • Marco Tartaglia i inni, Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome, „American Journal of Human Genetics”, 75 (3), 2004, s. 492–497, DOI: 10.1086/423493, PMID: 15248152, PMCID: PMC1182027.
  • Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. „Nat Genet”. 29. 4, s. 465–468, 2001. DOI: 10.1038/ng772. PMID: 11704759.  Korekta w „Nature Genetics”, 29 (4), 2001, s. 491, DOI: 10.1038/ng1201-491c, ISSN 1061-4036, PDF.
  • Mohamed Bentires-Alj, Maria I. Kontaridis, Benjamin G. Neel, Stops along the RAS pathway in human genetic disease, „Nature Medicine”, 12 (3), 2006, s. 283–285, DOI: 10.1038/nm0306-283, PMID: 16520774.
  • Ineke van der Burgt, Noonan syndrome, „Orphanet Journal of Rare Diseases”, 14 (2), 2007, s. 4, DOI: 10.1186/1750-1172-2-4, PMID: 17222357, PMCID: PMC1781428.
  • Perry Elliott, William J. McKenna, Hypertrophic cardiomyopathy, „The Lancet”, 363 (9424), 2004, s. 1881–1891, DOI: 10.1016/S0140-6736(04)16358-7, PMID: 15183628.

nature.com

  • Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. „Nat Genet”. 29. 4, s. 465–468, 2001. DOI: 10.1038/ng772. PMID: 11704759.  Korekta w „Nature Genetics”, 29 (4), 2001, s. 491, DOI: 10.1038/ng1201-491c, ISSN 1061-4036, PDF.

nih.gov

ncbi.nlm.nih.gov

  • Coppin BD, Temple IK. Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis). „J Med Genet”. 34. 7, s. 582–586, 1997. PMID: 9222968.  PDF.
  • Capute AJ, Rimoin DL, Konigsmark BW, Esterly NB, Richardson F. Congenital deafness and multiple lentigines. A report of cases in a mother and daughter. „Arch Dermatol”. 100. 2, s. 207–213, 1969. PMID: 5797963. 
  • Gorlin RJ, Anderson RC, Blaw M. Multiple lentigenes syndrome. „Am J Dis Child”. 117. 6, s. 652–662, 1969. PMID: 5771505. 
  • Sarkozy A, Digilio MC, Dallapiccola B. LEOPARD syndrome. „Orphanet J Rare Dis”. 3. 1, s. 13, 2008. DOI: 10.1186/1750-1172-3-13. PMID: 18505544. 
  • Marco Tartaglia i inni, Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome, „American Journal of Human Genetics”, 75 (3), 2004, s. 492–497, DOI: 10.1086/423493, PMID: 15248152, PMCID: PMC1182027.
  • Sarkozy A, Conti E, Digilio MC, Marino B, Morini E, Pacileo G, Wilson M, Calabrò R, Pizzuti A, Dallapiccola B. Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. „J Med Genet”. 41. 5, s. e68, 2004. PMID: 15121796. PDF.
  • Digilio MC, Conti E, Sarkozy A, Mingarelli R, Dottorini T, Marino B, Pizzuti A, Dallapiccola B. Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. „Am J Hum Genet”. 71. 2, s. 389–394, 2002. DOI: 10.1086/341528. PMID: 12058348. 
  • Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, Pogna EA, Schackwitz W, Ustaszewska A, Landstrom A, Bos JM, Ommen SR, Esposito G., Lepri, Faul C, Mundel P, López Siguero JP, Tenconi R, Selicorni A, Rossi C, Mazzanti L, Torrente I, Marino B, Digilio MC, Zampino G, Ackerman MJ, Dallapiccola B, Tartaglia M, Gelb BD. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. „Nat Genet”. 39. 8, s. 1007–1012, 2007. DOI: 10.1038/ng2073. PMID: 17603483. 
  • Neel BG, Gu H, Pao L. The ‘Shp’ing news: SH2 domain-containing tyrosine phosphatases in cell signaling. „Trends Biochem Sci”. 28. 6, s. 284–293, 2003. PMID: 12826400. 
  • Tartaglia M, Niemeyer CM, Shannon KM, Loh ML. SHP-2 and myeloid malignancies. „Curr Opin Hematol”. 11. 1, s. 44–50, 2003. PMID: 14676626. 
  • Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. „Nat Genet”. 29. 4, s. 465–468, 2001. DOI: 10.1038/ng772. PMID: 11704759.  Korekta w „Nature Genetics”, 29 (4), 2001, s. 491, DOI: 10.1038/ng1201-491c, ISSN 1061-4036, PDF.
  • Tartaglia M, Gelb BD. Noonan syndrome and related disorders: genetics and pathogenesis. „Annu Rev Genomics Hum Genet”. 6, s. 45–68, 2005. DOI: 10.1146/annurev.genom.6.080604.162305. PMID: 16124853. 
  • Mohamed Bentires-Alj, Maria I. Kontaridis, Benjamin G. Neel, Stops along the RAS pathway in human genetic disease, „Nature Medicine”, 12 (3), 2006, s. 283–285, DOI: 10.1038/nm0306-283, PMID: 16520774.
  • Bruce D. Gelb, Marco Tartaglia. LEOPARD Syndrome GeneReviews.
  • Digilio MC, Sarkozy A, de Zorzi A, Pacileo G, Limongelli G, Mingarelli R, Calabrò R, Marino B, Dallapiccola B. LEOPARD syndrome: clinical diagnosis in the first year of life. „Am J Med Genet A”. 140. 7, s. 740–746, 2006. DOI: 10.1002/ajmg.a.31156. PMID: 16523510. 
  • Somerville J, Bonham-Carter RE. The heart in lentiginosis. „Br Heart J”. 34. 1, s. 58–66, 1972. PMID: 4258224.  PDF.
  • Limongelli G, Pacileo G, Marino B, Digilio MC, Sarkozy A, Elliott P, Versacci P, Calabro P, De Zorzi A, Di Salvo G, Syrris P, Patton M, McKenna WJ, Dallapiccola B, Calabro R. Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome. „Am J Cardiol”. 100. 4, s. 736–741, 2007. DOI: 10.1016/j.amjcard.2007.03.093. PMID: 17697839. 
  • Selmanowitz VJ, Orentreich N, Felsenstein JM. Lentiginosis profusa syndrome (multiple lentigines syndrome). „Arch Dermatol”. 104. 4, s. 393–401, 1972. PMID: 5000391. 
  • Mochizuki-Osawa M, Terui T, Kato T, Tagami H. LEOPARD syndrome associated with steatocystoma multiplex and hyperelastic skin Report of a Japanese case. „Acta Derm Venereol”. 75. 4, s. 323–324, 1996. PMID: 8578962. 
  • Ohkura T, Ohnishi Y, Kawada A, Tajima S, Ishibashi A, Ono K. Leopard syndrome associated with hyperelastic skin: analysis of collagen metabolism in cultured skin fibroblasts. „Dermatology”. 198. 4, s. 385–387, 1999. PMID: 10449938. 
  • Uçar C, Calýskan U, Martini S, Heinritz W. Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive). „J Pediatr Hematol Oncol”. 28. 3, s. 123–125, 2006. DOI: 10.1097/01.mph.0000199590.21797.0b. PMID: 16679933. 
  • Merks JH, Caron HN, Hennekam RC. High incidence of malformation syndromes in a series of 1,073 children with cancer. „Am J Med Genet A”. 134A. 2, s. 132–143, 2005. DOI: 10.1002/ajmg.a.30603. PMID: 15712196. 
  • Seishima M, Mizutani Y, Shibuya Y, Arakawa C, Yoshida R, Ogata T. Malignant melanoma in a woman with LEOPARD syndrome: identification of a germline PTPN11 mutation and a somatic BRAF mutation. „Br J Dermatol”. 157. 6, s. 1297–1299, 2007. DOI: 10.1111/j.1365-2133.2007.08229.x. PMID: 17927788. 
  • Choi WW, Yoo JY, Park KC, Kim KH. LEOPARD syndrome with a new association of congenital corneal tumor, choristoma. „Pediatr Dermatol”. 20. 2, s. 158–160, 2003. PMID: 12657016. 
  • Ineke van der Burgt, Noonan syndrome, „Orphanet Journal of Rare Diseases”, 14 (2), 2007, s. 4, DOI: 10.1186/1750-1172-2-4, PMID: 17222357, PMCID: PMC1781428.
  • Perry Elliott, William J. McKenna, Hypertrophic cardiomyopathy, „The Lancet”, 363 (9424), 2004, s. 1881–1891, DOI: 10.1016/S0140-6736(04)16358-7, PMID: 15183628.

pubmedcentral.nih.gov

  • Coppin BD, Temple IK. Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis). „J Med Genet”. 34. 7, s. 582–586, 1997. PMID: 9222968.  PDF.
  • Sarkozy A, Conti E, Digilio MC, Marino B, Morini E, Pacileo G, Wilson M, Calabrò R, Pizzuti A, Dallapiccola B. Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. „J Med Genet”. 41. 5, s. e68, 2004. PMID: 15121796. PDF.
  • Somerville J, Bonham-Carter RE. The heart in lentiginosis. „Br Heart J”. 34. 1, s. 58–66, 1972. PMID: 4258224.  PDF.

omim.org

worldcat.org

  • Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. „Nat Genet”. 29. 4, s. 465–468, 2001. DOI: 10.1038/ng772. PMID: 11704759.  Korekta w „Nature Genetics”, 29 (4), 2001, s. 491, DOI: 10.1038/ng1201-491c, ISSN 1061-4036, PDF.