Sindrom Noonan dengan banyak lentigin (Indonesian Wikipedia)

Analysis of information sources in references of the Wikipedia article "Sindrom Noonan dengan banyak lentigin" in Indonesian language version.

refsWebsite

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20nih.gov

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15doi.org

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6worldcat.org

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1karger.com

4,489^th place

6,938^th place

1web.archive.org

1^st place

1jbc.org

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1medlineplus.gov

1,581^st place

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1rarediseases.org

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doi.org

Coppin, B. D.; Temple, I. K. (1997-07). "Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis)". Journal of Medical Genetics. 34 (7): 582–586. doi:10.1136/jmg.34.7.582. ISSN 0022-2593. PMC 1051000 . PMID 9222968.
Legius, E.; Schrander-Stumpel, C.; Schollen, E.; Pulles-Heintzberger, C.; Gewillig, M.; Fryns, J.-P. (2002-08). "PTPN11 mutations in LEOPARD syndrome". Journal of Medical Genetics. 39 (8): 571–574. doi:10.1136/jmg.39.8.571. ISSN 1468-6244. PMC 1735195 . PMID 12161596.
Tidyman, William E.; Rauen, Katherine A. (2009-06). "The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation". Current Opinion in Genetics & Development. 19 (3): 230–236. doi:10.1016/j.gde.2009.04.001. ISSN 1879-0380. PMC 2743116 . PMID 19467855.
Orrego-González, Eduardo; Martin-Restrepo, Carlos; Velez-Van-Meerbeke, Alberto (2021-01-27). "Noonan Syndrome with Multiple Lentigines and PTPN11 Mutation: A Case with Intracerebral Hemorrhage". Molecular Syndromology (dalam bahasa Inggris): 1–7. doi:10.1159/000512374. ISSN 1661-8769. PMC 7983560 . Pemeliharaan CS1: Format PMC (link)
Gorlin RJ, Anderson RC, Blaw M (1969). "Multiple lentigenes syndrome". Am. J. Dis. Child. 117 (6): 652–62. doi:10.1001/archpedi.1969.02100030654006. PMID 5771505.
Tartaglia M; Martinelli S; Stella L; et al. (2006). "Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease". American Journal of Human Genetics. 78 (2): 279–90. doi:10.1086/499925. PMC 1380235 . PMID 16358218.
Hanna N; Montagner A; Lee WH; et al. (2006). "Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1". FEBS Lett. 580 (10): 2477–82. doi:10.1016/j.febslet.2006.03.088. PMID 16638574.
Kontaridis MI, Swanson KD, David FS, Barford D, Neel BG (2006). "PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects". J. Biol. Chem. 281 (10): 6785–92. doi:10.1074/jbc.M513068200. PMID 16377799. Diarsipkan dari versi asli tanggal 2008-10-08. Diakses tanggal 2022-03-06.
Digilio MC; Sarkozy A; de Zorzi A; et al. (2006). "LEOPARD syndrome: clinical diagnosis in the first year of life". American Journal of Medical Genetics. 140 (7): 740–6. doi:10.1002/ajmg.a.31156. PMID 16523510.
Zeisler EP, Becker SW (1936). "Generalized lentigo: its relation to systemic nonelevated nevi". Arch Dermatol Syphilol. 33: 109–125. doi:10.1001/archderm.1936.01470070112010.
Moynahan EJ (1962). "Multiple symmetrical moles, with psychic and somatic infantilism and genital hypoplasia: first male case of a new syndrome". Proceedings of the Royal Society of Medicine. 55 (11): 959–960. doi:10.1177/003591576205501112. PMC 1896920 . PMID 19994192.
Walther RJ, Polansky BJ, Grotis IA (1966). "Electrocardiographic abnormalities in a family with generalized lentigo". N. Engl. J. Med. 275 (22): 1220–5. doi:10.1056/NEJM196612012752203. PMID 5921856.
Matthews NL (1968). "Lentigo and electrocardiographic changes". N. Engl. J. Med. 278 (14): 780–1. doi:10.1056/NEJM196804042781410. PMID 5638719.
Stevenson, D. A.; Viskochil, D. H.; Rope, A. F.; Carey, J. C. (2006-03). "Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype". Clinical Genetics. 69 (3): 246–253. doi:10.1111/j.1399-0004.2006.00576.x. ISSN 0009-9163. PMC 3243644 . PMID 16542390.
Ahlbom BE, Dahl N, Zetterqvist P, Annerén G (1995). "Noonan syndrome with café-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus". Clin. Genet. 48 (2): 85–9. doi:10.1111/j.1399-0004.1995.tb04061.x. PMID 7586657.

jbc.org

Kontaridis MI, Swanson KD, David FS, Barford D, Neel BG (2006). "PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects". J. Biol. Chem. 281 (10): 6785–92. doi:10.1074/jbc.M513068200. PMID 16377799. Diarsipkan dari versi asli tanggal 2008-10-08. Diakses tanggal 2022-03-06.

karger.com

Orrego-González, Eduardo; Martin-Restrepo, Carlos; Velez-Van-Meerbeke, Alberto (2021-01-27). "Noonan Syndrome with Multiple Lentigines and PTPN11 Mutation: A Case with Intracerebral Hemorrhage". Molecular Syndromology (dalam bahasa Inggris): 1–7. doi:10.1159/000512374. ISSN 1661-8769. PMC 7983560 . Pemeliharaan CS1: Format PMC (link)

medlineplus.gov

"Noonan syndrome with multiple lentigines: MedlinePlus Genetics". medlineplus.gov (dalam bahasa Inggris). Diakses tanggal 2022-03-06.

nih.gov

ncbi.nlm.nih.gov

Coppin, B. D.; Temple, I. K. (1997-07). "Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis)". Journal of Medical Genetics. 34 (7): 582–586. doi:10.1136/jmg.34.7.582. ISSN 0022-2593. PMC 1051000 . PMID 9222968.
Legius, E.; Schrander-Stumpel, C.; Schollen, E.; Pulles-Heintzberger, C.; Gewillig, M.; Fryns, J.-P. (2002-08). "PTPN11 mutations in LEOPARD syndrome". Journal of Medical Genetics. 39 (8): 571–574. doi:10.1136/jmg.39.8.571. ISSN 1468-6244. PMC 1735195 . PMID 12161596.
Tidyman, William E.; Rauen, Katherine A. (2009-06). "The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation". Current Opinion in Genetics & Development. 19 (3): 230–236. doi:10.1016/j.gde.2009.04.001. ISSN 1879-0380. PMC 2743116 . PMID 19467855.
Orrego-González, Eduardo; Martin-Restrepo, Carlos; Velez-Van-Meerbeke, Alberto (2021-01-27). "Noonan Syndrome with Multiple Lentigines and PTPN11 Mutation: A Case with Intracerebral Hemorrhage". Molecular Syndromology (dalam bahasa Inggris): 1–7. doi:10.1159/000512374. ISSN 1661-8769. PMC 7983560 . Pemeliharaan CS1: Format PMC (link)
Tullu, M. S.; Muranjan, M. N.; Kantharia, V. C.; Parmar, R. C.; Sahu, D. R.; Bavdekar, S. B.; Bharucha, B. A. (2000-04). "Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma". Journal of Postgraduate Medicine. 46 (2): 98–100. ISSN 0022-3859. PMID 11013475.
Gorlin RJ, Anderson RC, Blaw M (1969). "Multiple lentigenes syndrome". Am. J. Dis. Child. 117 (6): 652–62. doi:10.1001/archpedi.1969.02100030654006. PMID 5771505.
Tartaglia M; Martinelli S; Stella L; et al. (2006). "Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease". American Journal of Human Genetics. 78 (2): 279–90. doi:10.1086/499925. PMC 1380235 . PMID 16358218.
Hanna N; Montagner A; Lee WH; et al. (2006). "Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1". FEBS Lett. 580 (10): 2477–82. doi:10.1016/j.febslet.2006.03.088. PMID 16638574.
Kontaridis MI, Swanson KD, David FS, Barford D, Neel BG (2006). "PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects". J. Biol. Chem. 281 (10): 6785–92. doi:10.1074/jbc.M513068200. PMID 16377799. Diarsipkan dari versi asli tanggal 2008-10-08. Diakses tanggal 2022-03-06.
Digilio MC; Sarkozy A; de Zorzi A; et al. (2006). "LEOPARD syndrome: clinical diagnosis in the first year of life". American Journal of Medical Genetics. 140 (7): 740–6. doi:10.1002/ajmg.a.31156. PMID 16523510.
Moynahan EJ (1962). "Multiple symmetrical moles, with psychic and somatic infantilism and genital hypoplasia: first male case of a new syndrome". Proceedings of the Royal Society of Medicine. 55 (11): 959–960. doi:10.1177/003591576205501112. PMC 1896920 . PMID 19994192.
Walther RJ, Polansky BJ, Grotis IA (1966). "Electrocardiographic abnormalities in a family with generalized lentigo". N. Engl. J. Med. 275 (22): 1220–5. doi:10.1056/NEJM196612012752203. PMID 5921856.
Matthews NL (1968). "Lentigo and electrocardiographic changes". N. Engl. J. Med. 278 (14): 780–1. doi:10.1056/NEJM196804042781410. PMID 5638719.
Stevenson, D. A.; Viskochil, D. H.; Rope, A. F.; Carey, J. C. (2006-03). "Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype". Clinical Genetics. 69 (3): 246–253. doi:10.1111/j.1399-0004.2006.00576.x. ISSN 0009-9163. PMC 3243644 . PMID 16542390.
Ahlbom BE, Dahl N, Zetterqvist P, Annerén G (1995). "Noonan syndrome with café-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus". Clin. Genet. 48 (2): 85–9. doi:10.1111/j.1399-0004.1995.tb04061.x. PMID 7586657.

pubmed.ncbi.nlm.nih.gov

Coppin, B. D.; Temple, I. K. (1997-07). "Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis)". Journal of Medical Genetics. 34 (7): 582–586. doi:10.1136/jmg.34.7.582. ISSN 0022-2593. PMC 1051000 . PMID 9222968.
Legius, E.; Schrander-Stumpel, C.; Schollen, E.; Pulles-Heintzberger, C.; Gewillig, M.; Fryns, J.-P. (2002-08). "PTPN11 mutations in LEOPARD syndrome". Journal of Medical Genetics. 39 (8): 571–574. doi:10.1136/jmg.39.8.571. ISSN 1468-6244. PMC 1735195 . PMID 12161596.
Tidyman, William E.; Rauen, Katherine A. (2009-06). "The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation". Current Opinion in Genetics & Development. 19 (3): 230–236. doi:10.1016/j.gde.2009.04.001. ISSN 1879-0380. PMC 2743116 . PMID 19467855.
Tullu, M. S.; Muranjan, M. N.; Kantharia, V. C.; Parmar, R. C.; Sahu, D. R.; Bavdekar, S. B.; Bharucha, B. A. (2000-04). "Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma". Journal of Postgraduate Medicine. 46 (2): 98–100. ISSN 0022-3859. PMID 11013475.
Stevenson, D. A.; Viskochil, D. H.; Rope, A. F.; Carey, J. C. (2006-03). "Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype". Clinical Genetics. 69 (3): 246–253. doi:10.1111/j.1399-0004.2006.00576.x. ISSN 0009-9163. PMC 3243644 . PMID 16542390.

rarediseases.org

"Noonan Syndrome with Multiple Lentigines". NORD (National Organization for Rare Disorders) (dalam bahasa Inggris). Diakses tanggal 2022-03-06.

web.archive.org

Kontaridis MI, Swanson KD, David FS, Barford D, Neel BG (2006). "PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects". J. Biol. Chem. 281 (10): 6785–92. doi:10.1074/jbc.M513068200. PMID 16377799. Diarsipkan dari versi asli tanggal 2008-10-08. Diakses tanggal 2022-03-06.

worldcat.org

Coppin, B. D.; Temple, I. K. (1997-07). "Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis)". Journal of Medical Genetics. 34 (7): 582–586. doi:10.1136/jmg.34.7.582. ISSN 0022-2593. PMC 1051000 . PMID 9222968.
Legius, E.; Schrander-Stumpel, C.; Schollen, E.; Pulles-Heintzberger, C.; Gewillig, M.; Fryns, J.-P. (2002-08). "PTPN11 mutations in LEOPARD syndrome". Journal of Medical Genetics. 39 (8): 571–574. doi:10.1136/jmg.39.8.571. ISSN 1468-6244. PMC 1735195 . PMID 12161596.
Tidyman, William E.; Rauen, Katherine A. (2009-06). "The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation". Current Opinion in Genetics & Development. 19 (3): 230–236. doi:10.1016/j.gde.2009.04.001. ISSN 1879-0380. PMC 2743116 . PMID 19467855.
Orrego-González, Eduardo; Martin-Restrepo, Carlos; Velez-Van-Meerbeke, Alberto (2021-01-27). "Noonan Syndrome with Multiple Lentigines and PTPN11 Mutation: A Case with Intracerebral Hemorrhage". Molecular Syndromology (dalam bahasa Inggris): 1–7. doi:10.1159/000512374. ISSN 1661-8769. PMC 7983560 . Pemeliharaan CS1: Format PMC (link)
Tullu, M. S.; Muranjan, M. N.; Kantharia, V. C.; Parmar, R. C.; Sahu, D. R.; Bavdekar, S. B.; Bharucha, B. A. (2000-04). "Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma". Journal of Postgraduate Medicine. 46 (2): 98–100. ISSN 0022-3859. PMID 11013475.
Stevenson, D. A.; Viskochil, D. H.; Rope, A. F.; Carey, J. C. (2006-03). "Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype". Clinical Genetics. 69 (3): 246–253. doi:10.1111/j.1399-0004.2006.00576.x. ISSN 0009-9163. PMC 3243644 . PMID 16542390.