Noonan syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Noonan syndrome" in English language version.

refsWebsite

Global rank English rank

54nih.gov

4^th place

34doi.org

2^nd place

24worldcat.org

5^th place

15semanticscholar.org

11^th place

8^th place

1rarediseases.org

5,181^st place

3,260^th place

1merckmanuals.com

3,097^th place

2,317^th place

1handle.net

102^nd place

76^th place

1web.archive.org

1^st place

1mayomedicallaboratories.com

low place

1bmj.com

1,226^th place

1,421^st place

1mhaus.org

low place

1dynamed.com

low place

bmj.com

bestpractice.bmj.com

"Noonan syndrome - Symptoms, diagnosis and treatment | BMJ Best Practice". bestpractice.bmj.com. Retrieved 2019-11-18.

doi.org

Nosan G, Bertok S, Vesel S, Yntema HG, Paro-Panjan D (December 2013). "A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study". Croatian Medical Journal. 54 (6): 574–8. doi:10.3325/cmj.2013.54.574. PMC 3893993. PMID 24382853.
Romano, Alicia A.; Allanson, Judith E.; Dahlgren, Jovanna; Gelb, Bruce D.; Hall, Bryan; Pierpont, Mary Ella; Roberts, Amy E.; Robinson, Wanda; Takemoto, Clifford M.; Noonan, Jacqueline A. (October 2010). "Noonan syndrome: clinical features, diagnosis, and management guidelines". Pediatrics. 126 (4): 746–759. doi:10.1542/peds.2009-3207. ISSN 1098-4275. PMID 20876176. S2CID 11297756.
Anderson, Kailyn; Cnota, James; James, Jeanne; Miller, Erin M.; Parrott, Ashley; Pilipenko, Valentina; Weaver, Kathryn Nicole; Shikany, Amy (2018-12-16). "Prevalence of Noonan spectrum disorders in a pediatric population with valvar pulmonary stenosis". Congenital Heart Disease. 14 (2): 264–273. doi:10.1111/chd.12721. ISSN 1747-079X. PMID 30556322. S2CID 58767341.
Rivero-García, Pamela; Campuzano-Estrada, Isabel del Carmen; Hernandez-Felix, Jorge Humberto (2023). "Hypertrophic cardiomyopathy in an adult patient with Noonan syndrome with multiple lentigines". Clinical Case Reports. 11 (6): e7607. doi:10.1002/ccr3.7607. ISSN 2050-0904. PMC 10290193. PMID 37361648.
Marino, Bruno; Digilio, Maria Cristina; Toscano, Alessandra; Giannotti, Aldo; Dallapiccola, Bruno (December 1999). "Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal". The Journal of Pediatrics. 135 (6): 703–706. doi:10.1016/s0022-3476(99)70088-0. ISSN 0022-3476. PMID 10586172.
Linglart, Léa; Gelb, Bruce D. (2020-02-05). "Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment". American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 184 (1): 73–80. doi:10.1002/ajmg.c.31765. ISSN 1552-4868. PMC 7682536. PMID 32022400.
Roelofs, Renée L.; Janssen, Nikki; Wingbermühle, Ellen; Kessels, Roy P.C.; Egger, Jos I.M. (2016-05-03). "Intellectual development in Noonan syndrome: a longitudinal study". Brain and Behavior. 6 (7): e00479. doi:10.1002/brb3.479. ISSN 2162-3279. PMC 4864201. PMID 27247851.
van der Burgt, Ineke; Thoonen, Geert; Roosenboom, Natasja; Assman-Hulsmans, Claire; Gabreels, Fons; Otten, Barto; Brunner, Han G. (1999). "Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression". The Journal of Pediatrics. 135 (6): 707–713. doi:10.1016/s0022-3476(99)70089-2. ISSN 0022-3476. PMID 10586173.
Wingbermühle, E.; Roelofs, R. L.; van der Burgt, I.; Souren, P. M.; Verhoeven, W. M. A.; Kessels, R. P. C.; Egger, J. I. M. (2012-08-10). "Cognitive functioning of adults with Noonan syndrome: a case-control study". Genes, Brain and Behavior. 11 (7): 785–793. doi:10.1111/j.1601-183x.2012.00821.x. hdl:2066/110589. ISSN 1601-1848. PMID 22783933. S2CID 31704142.
Galarza, Marcelo; Martínez-Lage, Juan F.; Ham, Steven; Sood, Sandeep (2010). "Cerebral Anomalies and Chiari Type 1 Malformation". Pediatric Neurosurgery. 46 (6): 442–449. doi:10.1159/000327220. ISSN 1016-2291. PMID 21540621. S2CID 11867857.
Davico, Chiara; D'Alessandro, Rossella; Borgogno, Marta; Campagna, Filippa; Torta, Francesca; Ricci, Federica; Amianto, Federico; Vittorini, Roberta; Carli, Diana; Mussa, Alessandro; Vitiello, Benedetto; Ferrero, Giovanni Battista (2022-05-16). "Epilepsy in a cohort of children with Noonan syndrome and related disorders". European Journal of Pediatrics. 181 (8): 2919–2926. doi:10.1007/s00431-022-04497-6. ISSN 1432-1076. PMID 35575813. S2CID 248800780.
Unuma, Kana; Tomomasa, Dan; Noma, Kosuke; Yamamoto, Kouhei; Matsuyama, Taka-aki; Makino, Yohsuke; Hijikata, Atsushi; Wen, Shuheng; Ogata, Tsutomu; Okamoto, Nobuhiko; Okada, Satoshi; Ohashi, Kenichi; Uemura, Koichi; Kanegane, Hirokazu (2023-04-18). "Case Report: Molecular autopsy underlie COVID-19-associated sudden, unexplained child mortality". Frontiers in Immunology. 14. doi:10.3389/fimmu.2023.1121059. ISSN 1664-3224. PMC 10151512. PMID 37143668.
Fernández, Delia I.; Diender, Marije; Hermida-Nogueira, Lidia; Huang, Jingnan; Veiras, Sonia; Henskens, Yvonne M.C.; te Loo, Maroeska W.M.; Heemskerk, Johan W.M.; Kuijpers, Marijke J.E.; García, Ángel (2023). "Role of SHP2 (PTPN11) in glycoprotein VI-dependent thrombus formation: Improved platelet responsiveness by the allosteric drug SHP099 in Noonan syndrome patients". Thrombosis Research. 228: 105–116. doi:10.1016/j.thromres.2023.06.001. ISSN 0049-3848. PMID 37302266.
Razzaque MA, Komoike Y, Nishizawa T, Inai K, Furutani M, Higashinakagawa T, Matsuoka R (March 2012). "Characterization of a novel KRAS mutation identified in Noonan syndrome". American Journal of Medical Genetics. Part A. 158A (3): 524–32. doi:10.1002/ajmg.a.34419. PMID 22302539. S2CID 34135931.
Sharland, Michael; Morgan, Maureen; Smith, Gill; Burch, Michael; Patton, Michael A. (1993-02-15). "Genetic counselling in Noonan syndrome". American Journal of Medical Genetics. 45 (4): 437–440. doi:10.1002/ajmg.1320450407. ISSN 0148-7299. PMID 8465845.
El Bouchikhi, Ihssane; Belhassan, Khadija; Moufid, Fatima Zohra; Iraqui Houssaini, Mohammed; Bouguenouch, Laila; Samri, Imane; Atmani, Samir; Ouldim, Karim (2016). "Noonan syndrome-causing genes: Molecular update and an assessment of the mutation rate". International Journal of Pediatrics and Adolescent Medicine. 3 (4): 133–142. doi:10.1016/j.ijpam.2016.06.003. ISSN 2352-6467. PMC 6372459. PMID 30805484.
Zenker, Martin; Buheitel, Gernot; Rauch, Ralf; Koenig, Rainer; Bosse, Kirstin; Kress, Wolfram; Tietze, Hans-Ulrich; Doerr, Helmuth-Guenther; Hofbeck, Michael; Singer, Helmut; Reis, André; Rauch, Anita (2004). "Genotype-phenotype correlations in Noonan syndrome". The Journal of Pediatrics. 144 (3): 368–374. doi:10.1016/j.jpeds.2003.11.032. ISSN 0022-3476. PMID 15001945.
Ko, Jung Min; Kim, Jae-Min; Kim, Gu-Hwan; Yoo, Han-Wook (2008-11-20). "PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype–phenotype correlation in Korean patients with Noonan syndrome". Journal of Human Genetics. 53 (11–12): 999–1006. doi:10.1007/s10038-008-0343-6. ISSN 1434-5161. PMID 19020799.
Lee, Beom Hee; Kim, Jae-Min; Jin, Hye Young; Kim, Gu-Hwan; Choi, Jin-Ho; Yoo, Han-Wook (2011). "Spectrum of Mutations in Noonan Syndrome and Their Correlation with Phenotypes". The Journal of Pediatrics. 159 (6): 1029–1035. doi:10.1016/j.jpeds.2011.05.024. ISSN 0022-3476. PMID 21784453.
Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, et al. (December 2001). "Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome". Nature Genetics. 29 (4): 465–8. doi:10.1038/ng772. PMID 11704759. S2CID 14627986.
Shchelochkov OA, Patel A, Weissenberger GM, Chinault AC, Wiszniewska J, Fernandes PH, et al. (April 2008). "Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome". American Journal of Medical Genetics. Part A. 146A (8): 1042–8. doi:10.1002/ajmg.a.32215. PMID 18348260. S2CID 205309115.
van Der Burgt I, Brunner H (September 2000). "Genetic heterogeneity in Noonan syndrome: evidence for an autosomal recessive form". American Journal of Medical Genetics. 94 (1): 46–51. doi:10.1002/1096-8628(20000904)94:1<46::AID-AJMG10>3.0.CO;2-I. PMID 10982482.
Schubbert S, Zenker M, Rowe SL, Böll S, Klein C, Bollag G, et al. (March 2006). "Germline KRAS mutations cause Noonan syndrome". Nature Genetics. 38 (3): 331–6. doi:10.1038/ng1748. PMID 16474405. S2CID 8193354.
Bentires-Alj M, Kontaridis MI, Neel BG (March 2006). "Stops along the RAS pathway in human genetic disease". Nature Medicine. 12 (3): 283–5. doi:10.1038/nm0306-283. PMID 16520774. S2CID 6989331.
Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, et al. (January 2007). "Germline gain-of-function mutations in SOS1 cause Noonan syndrome". Nature Genetics. 39 (1): 70–4. doi:10.1038/ng1926. PMID 17143285. S2CID 10222262.
Razzaque MA, Nishizawa T, Komoike Y, Yagi H, Furutani M, Amo R, et al. (August 2007). "Germline gain-of-function mutations in RAF1 cause Noonan syndrome". Nature Genetics. 39 (8): 1013–7. doi:10.1038/ng2078. PMID 17603482. S2CID 29753972.
De Luca A, Bottillo I, Sarkozy A, Carta C, Neri C, Bellacchio E, et al. (December 2005). "NF1 gene mutations represent the major molecular event underlying neurofibromatosis–Noonan syndrome". American Journal of Human Genetics. 77 (6): 1092–101. doi:10.1086/498454. PMC 1285166. PMID 16380919.
Roberts, Amy E.; Allanson, Judith E.; Tartaglia, Marco; Gelb, Bruce D. (2013-01-26). "Noonan syndrome". Lancet. 381 (9863): 333–342. doi:10.1016/S0140-6736(12)61023-X. ISSN 1474-547X. PMC 4267483. PMID 23312968.
Allanson, J. E.; Upadhyaya, M.; Watson, G. H.; Partington, M.; MacKenzie, A.; Lahey, D.; MacLeod, H.; Sarfarazi, M.; Broadhead, W.; Harper, P. S. (November 1991). "Watson syndrome: is it a subtype of type 1 neurofibromatosis?". Journal of Medical Genetics. 28 (11): 752–756. doi:10.1136/jmg.28.11.752. ISSN 0022-2593. PMC 1017110. PMID 1770531.
Armour, C. M.; Allanson, J. E. (April 2008). "Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations". Journal of Medical Genetics. 45 (4): 249–254. doi:10.1136/jmg.2007.054460. ISSN 1468-6244. PMID 18039946. S2CID 9742395.
Kerr, B.; Delrue, M.-A.; Sigaudy, S.; Perveen, R.; Marche, M.; Burgelin, I.; Stef, M.; Tang, B.; Eden, O. B.; O'Sullivan, J.; De Sandre-Giovannoli, A. (May 2006). "Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases". Journal of Medical Genetics. 43 (5): 401–405. doi:10.1136/jmg.2005.040352. ISSN 1468-6244. PMC 2564514. PMID 16443854.
Gripp, Karen W.; Lin, Angela E.; Stabley, Deborah L.; Nicholson, Linda; Scott, Charles I.; Doyle, Daniel; Aoki, Yoko; Matsubara, Yoichi; Zackai, Elaine H.; Lapunzina, Pablo; Gonzalez-Meneses, Antonio (2006-01-01). "HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation". American Journal of Medical Genetics Part A. 140A (1): 1–7. doi:10.1002/ajmg.a.31047. ISSN 1552-4825. PMID 16329078. S2CID 27334655.
Bertola, Debora R.; Pereira, Alexandre C.; Passetti, Fábio; de Oliveira, Paulo S.L.; Messiaen, Ludwine; Gelb, Bruce D.; Kim, Chong A.; Krieger, José Eduardo (2005-07-30). "Neurofibromatosis–Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient". American Journal of Medical Genetics Part A. 136A (3): 242–245. doi:10.1002/ajmg.a.30813. ISSN 1552-4825. PMID 15948193. S2CID 40235559.
Noonan, Jacqueline A. (1968-10-01). "Hypertelorism With Turner Phenotype: A New Syndrome With Associated Congenital Heart Disease". American Journal of Diseases of Children. 116 (4): 373–80. doi:10.1001/archpedi.1968.02100020377005. ISSN 0002-922X. PMID 4386970.

dynamed.com

"DynaMed". www.dynamed.com. Retrieved 2019-11-11.

handle.net

hdl.handle.net

Wingbermühle, E.; Roelofs, R. L.; van der Burgt, I.; Souren, P. M.; Verhoeven, W. M. A.; Kessels, R. P. C.; Egger, J. I. M. (2012-08-10). "Cognitive functioning of adults with Noonan syndrome: a case-control study". Genes, Brain and Behavior. 11 (7): 785–793. doi:10.1111/j.1601-183x.2012.00821.x. hdl:2066/110589. ISSN 1601-1848. PMID 22783933. S2CID 31704142.

mayomedicallaboratories.com

"Download Catalog - Mayo Medical Laboratories". www.mayomedicallaboratories.com. Archived from the original on 2017-05-17. Retrieved 2014-07-08.

merckmanuals.com

"Noonan Syndrome - Children's Health Issues". Merck Manuals Consumer Version. Retrieved 25 December 2018.

mhaus.org

"Does Noonan Syndrome Increase Malignant Hyperthermia Susceptibility? - MHAUS". www.mhaus.org. Retrieved 2019-11-25.

nih.gov

pubmed.ncbi.nlm.nih.gov

Bhambhani V, Muenke M (January 2014). "Noonan syndrome". American Family Physician. 89 (1): 37–43. PMC 4099190. PMID 24444506.
Nosan G, Bertok S, Vesel S, Yntema HG, Paro-Panjan D (December 2013). "A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study". Croatian Medical Journal. 54 (6): 574–8. doi:10.3325/cmj.2013.54.574. PMC 3893993. PMID 24382853.
Romano, Alicia A.; Allanson, Judith E.; Dahlgren, Jovanna; Gelb, Bruce D.; Hall, Bryan; Pierpont, Mary Ella; Roberts, Amy E.; Robinson, Wanda; Takemoto, Clifford M.; Noonan, Jacqueline A. (October 2010). "Noonan syndrome: clinical features, diagnosis, and management guidelines". Pediatrics. 126 (4): 746–759. doi:10.1542/peds.2009-3207. ISSN 1098-4275. PMID 20876176. S2CID 11297756.
Allanson, Judith E.; Roberts, Amy E. (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Noonan Syndrome", GeneReviews®, University of Washington, Seattle, PMID 20301303, retrieved 2019-11-18
Anderson, Kailyn; Cnota, James; James, Jeanne; Miller, Erin M.; Parrott, Ashley; Pilipenko, Valentina; Weaver, Kathryn Nicole; Shikany, Amy (2018-12-16). "Prevalence of Noonan spectrum disorders in a pediatric population with valvar pulmonary stenosis". Congenital Heart Disease. 14 (2): 264–273. doi:10.1111/chd.12721. ISSN 1747-079X. PMID 30556322. S2CID 58767341.
Rivero-García, Pamela; Campuzano-Estrada, Isabel del Carmen; Hernandez-Felix, Jorge Humberto (2023). "Hypertrophic cardiomyopathy in an adult patient with Noonan syndrome with multiple lentigines". Clinical Case Reports. 11 (6): e7607. doi:10.1002/ccr3.7607. ISSN 2050-0904. PMC 10290193. PMID 37361648.
Marino, Bruno; Digilio, Maria Cristina; Toscano, Alessandra; Giannotti, Aldo; Dallapiccola, Bruno (December 1999). "Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal". The Journal of Pediatrics. 135 (6): 703–706. doi:10.1016/s0022-3476(99)70088-0. ISSN 0022-3476. PMID 10586172.
Linglart, Léa; Gelb, Bruce D. (2020-02-05). "Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment". American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 184 (1): 73–80. doi:10.1002/ajmg.c.31765. ISSN 1552-4868. PMC 7682536. PMID 32022400.
Roelofs, Renée L.; Janssen, Nikki; Wingbermühle, Ellen; Kessels, Roy P.C.; Egger, Jos I.M. (2016-05-03). "Intellectual development in Noonan syndrome: a longitudinal study". Brain and Behavior. 6 (7): e00479. doi:10.1002/brb3.479. ISSN 2162-3279. PMC 4864201. PMID 27247851.
van der Burgt, Ineke; Thoonen, Geert; Roosenboom, Natasja; Assman-Hulsmans, Claire; Gabreels, Fons; Otten, Barto; Brunner, Han G. (1999). "Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression". The Journal of Pediatrics. 135 (6): 707–713. doi:10.1016/s0022-3476(99)70089-2. ISSN 0022-3476. PMID 10586173.
Wingbermühle, E.; Roelofs, R. L.; van der Burgt, I.; Souren, P. M.; Verhoeven, W. M. A.; Kessels, R. P. C.; Egger, J. I. M. (2012-08-10). "Cognitive functioning of adults with Noonan syndrome: a case-control study". Genes, Brain and Behavior. 11 (7): 785–793. doi:10.1111/j.1601-183x.2012.00821.x. hdl:2066/110589. ISSN 1601-1848. PMID 22783933. S2CID 31704142.
Galarza, Marcelo; Martínez-Lage, Juan F.; Ham, Steven; Sood, Sandeep (2010). "Cerebral Anomalies and Chiari Type 1 Malformation". Pediatric Neurosurgery. 46 (6): 442–449. doi:10.1159/000327220. ISSN 1016-2291. PMID 21540621. S2CID 11867857.
Davico, Chiara; D'Alessandro, Rossella; Borgogno, Marta; Campagna, Filippa; Torta, Francesca; Ricci, Federica; Amianto, Federico; Vittorini, Roberta; Carli, Diana; Mussa, Alessandro; Vitiello, Benedetto; Ferrero, Giovanni Battista (2022-05-16). "Epilepsy in a cohort of children with Noonan syndrome and related disorders". European Journal of Pediatrics. 181 (8): 2919–2926. doi:10.1007/s00431-022-04497-6. ISSN 1432-1076. PMID 35575813. S2CID 248800780.
Unuma, Kana; Tomomasa, Dan; Noma, Kosuke; Yamamoto, Kouhei; Matsuyama, Taka-aki; Makino, Yohsuke; Hijikata, Atsushi; Wen, Shuheng; Ogata, Tsutomu; Okamoto, Nobuhiko; Okada, Satoshi; Ohashi, Kenichi; Uemura, Koichi; Kanegane, Hirokazu (2023-04-18). "Case Report: Molecular autopsy underlie COVID-19-associated sudden, unexplained child mortality". Frontiers in Immunology. 14. doi:10.3389/fimmu.2023.1121059. ISSN 1664-3224. PMC 10151512. PMID 37143668.
Fernández, Delia I.; Diender, Marije; Hermida-Nogueira, Lidia; Huang, Jingnan; Veiras, Sonia; Henskens, Yvonne M.C.; te Loo, Maroeska W.M.; Heemskerk, Johan W.M.; Kuijpers, Marijke J.E.; García, Ángel (2023). "Role of SHP2 (PTPN11) in glycoprotein VI-dependent thrombus formation: Improved platelet responsiveness by the allosteric drug SHP099 in Noonan syndrome patients". Thrombosis Research. 228: 105–116. doi:10.1016/j.thromres.2023.06.001. ISSN 0049-3848. PMID 37302266.
Razzaque MA, Komoike Y, Nishizawa T, Inai K, Furutani M, Higashinakagawa T, Matsuoka R (March 2012). "Characterization of a novel KRAS mutation identified in Noonan syndrome". American Journal of Medical Genetics. Part A. 158A (3): 524–32. doi:10.1002/ajmg.a.34419. PMID 22302539. S2CID 34135931.
Sharland, Michael; Morgan, Maureen; Smith, Gill; Burch, Michael; Patton, Michael A. (1993-02-15). "Genetic counselling in Noonan syndrome". American Journal of Medical Genetics. 45 (4): 437–440. doi:10.1002/ajmg.1320450407. ISSN 0148-7299. PMID 8465845.
El Bouchikhi, Ihssane; Belhassan, Khadija; Moufid, Fatima Zohra; Iraqui Houssaini, Mohammed; Bouguenouch, Laila; Samri, Imane; Atmani, Samir; Ouldim, Karim (2016). "Noonan syndrome-causing genes: Molecular update and an assessment of the mutation rate". International Journal of Pediatrics and Adolescent Medicine. 3 (4): 133–142. doi:10.1016/j.ijpam.2016.06.003. ISSN 2352-6467. PMC 6372459. PMID 30805484.
Zenker, Martin; Buheitel, Gernot; Rauch, Ralf; Koenig, Rainer; Bosse, Kirstin; Kress, Wolfram; Tietze, Hans-Ulrich; Doerr, Helmuth-Guenther; Hofbeck, Michael; Singer, Helmut; Reis, André; Rauch, Anita (2004). "Genotype-phenotype correlations in Noonan syndrome". The Journal of Pediatrics. 144 (3): 368–374. doi:10.1016/j.jpeds.2003.11.032. ISSN 0022-3476. PMID 15001945.
Ko, Jung Min; Kim, Jae-Min; Kim, Gu-Hwan; Yoo, Han-Wook (2008-11-20). "PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype–phenotype correlation in Korean patients with Noonan syndrome". Journal of Human Genetics. 53 (11–12): 999–1006. doi:10.1007/s10038-008-0343-6. ISSN 1434-5161. PMID 19020799.
Lee, Beom Hee; Kim, Jae-Min; Jin, Hye Young; Kim, Gu-Hwan; Choi, Jin-Ho; Yoo, Han-Wook (2011). "Spectrum of Mutations in Noonan Syndrome and Their Correlation with Phenotypes". The Journal of Pediatrics. 159 (6): 1029–1035. doi:10.1016/j.jpeds.2011.05.024. ISSN 0022-3476. PMID 21784453.
Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, et al. (December 2001). "Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome". Nature Genetics. 29 (4): 465–8. doi:10.1038/ng772. PMID 11704759. S2CID 14627986.
Shchelochkov OA, Patel A, Weissenberger GM, Chinault AC, Wiszniewska J, Fernandes PH, et al. (April 2008). "Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome". American Journal of Medical Genetics. Part A. 146A (8): 1042–8. doi:10.1002/ajmg.a.32215. PMID 18348260. S2CID 205309115.
van Der Burgt I, Brunner H (September 2000). "Genetic heterogeneity in Noonan syndrome: evidence for an autosomal recessive form". American Journal of Medical Genetics. 94 (1): 46–51. doi:10.1002/1096-8628(20000904)94:1<46::AID-AJMG10>3.0.CO;2-I. PMID 10982482.
Schubbert S, Zenker M, Rowe SL, Böll S, Klein C, Bollag G, et al. (March 2006). "Germline KRAS mutations cause Noonan syndrome". Nature Genetics. 38 (3): 331–6. doi:10.1038/ng1748. PMID 16474405. S2CID 8193354.
Bentires-Alj M, Kontaridis MI, Neel BG (March 2006). "Stops along the RAS pathway in human genetic disease". Nature Medicine. 12 (3): 283–5. doi:10.1038/nm0306-283. PMID 16520774. S2CID 6989331.
Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, et al. (January 2007). "Germline gain-of-function mutations in SOS1 cause Noonan syndrome". Nature Genetics. 39 (1): 70–4. doi:10.1038/ng1926. PMID 17143285. S2CID 10222262.
Razzaque MA, Nishizawa T, Komoike Y, Yagi H, Furutani M, Amo R, et al. (August 2007). "Germline gain-of-function mutations in RAF1 cause Noonan syndrome". Nature Genetics. 39 (8): 1013–7. doi:10.1038/ng2078. PMID 17603482. S2CID 29753972.
De Luca A, Bottillo I, Sarkozy A, Carta C, Neri C, Bellacchio E, et al. (December 2005). "NF1 gene mutations represent the major molecular event underlying neurofibromatosis–Noonan syndrome". American Journal of Human Genetics. 77 (6): 1092–101. doi:10.1086/498454. PMC 1285166. PMID 16380919.
Roberts, Amy E.; Allanson, Judith E.; Tartaglia, Marco; Gelb, Bruce D. (2013-01-26). "Noonan syndrome". Lancet. 381 (9863): 333–342. doi:10.1016/S0140-6736(12)61023-X. ISSN 1474-547X. PMC 4267483. PMID 23312968.
Allanson, Judith E.; Roberts, Amy E. (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Noonan Syndrome", GeneReviews®, University of Washington, Seattle, PMID 20301303, retrieved 2019-11-25
Allanson, J. E.; Upadhyaya, M.; Watson, G. H.; Partington, M.; MacKenzie, A.; Lahey, D.; MacLeod, H.; Sarfarazi, M.; Broadhead, W.; Harper, P. S. (November 1991). "Watson syndrome: is it a subtype of type 1 neurofibromatosis?". Journal of Medical Genetics. 28 (11): 752–756. doi:10.1136/jmg.28.11.752. ISSN 0022-2593. PMC 1017110. PMID 1770531.
Armour, C. M.; Allanson, J. E. (April 2008). "Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations". Journal of Medical Genetics. 45 (4): 249–254. doi:10.1136/jmg.2007.054460. ISSN 1468-6244. PMID 18039946. S2CID 9742395.
Kerr, B.; Delrue, M.-A.; Sigaudy, S.; Perveen, R.; Marche, M.; Burgelin, I.; Stef, M.; Tang, B.; Eden, O. B.; O'Sullivan, J.; De Sandre-Giovannoli, A. (May 2006). "Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases". Journal of Medical Genetics. 43 (5): 401–405. doi:10.1136/jmg.2005.040352. ISSN 1468-6244. PMC 2564514. PMID 16443854.
Gripp, Karen W.; Lin, Angela E.; Stabley, Deborah L.; Nicholson, Linda; Scott, Charles I.; Doyle, Daniel; Aoki, Yoko; Matsubara, Yoichi; Zackai, Elaine H.; Lapunzina, Pablo; Gonzalez-Meneses, Antonio (2006-01-01). "HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation". American Journal of Medical Genetics Part A. 140A (1): 1–7. doi:10.1002/ajmg.a.31047. ISSN 1552-4825. PMID 16329078. S2CID 27334655.
Bertola, Debora R.; Pereira, Alexandre C.; Passetti, Fábio; de Oliveira, Paulo S.L.; Messiaen, Ludwine; Gelb, Bruce D.; Kim, Chong A.; Krieger, José Eduardo (2005-07-30). "Neurofibromatosis–Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient". American Journal of Medical Genetics Part A. 136A (3): 242–245. doi:10.1002/ajmg.a.30813. ISSN 1552-4825. PMID 15948193. S2CID 40235559.
Morris, Colleen A. (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Williams Syndrome", GeneReviews®, University of Washington, Seattle, PMID 20301427, retrieved 2019-11-25
Noonan, Jacqueline A. (1968-10-01). "Hypertelorism With Turner Phenotype: A New Syndrome With Associated Congenital Heart Disease". American Journal of Diseases of Children. 116 (4): 373–80. doi:10.1001/archpedi.1968.02100020377005. ISSN 0002-922X. PMID 4386970.

ncbi.nlm.nih.gov

Bhambhani V, Muenke M (January 2014). "Noonan syndrome". American Family Physician. 89 (1): 37–43. PMC 4099190. PMID 24444506.
Nosan G, Bertok S, Vesel S, Yntema HG, Paro-Panjan D (December 2013). "A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study". Croatian Medical Journal. 54 (6): 574–8. doi:10.3325/cmj.2013.54.574. PMC 3893993. PMID 24382853.
Allanson, Judith E.; Roberts, Amy E. (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Noonan Syndrome", GeneReviews®, University of Washington, Seattle, PMID 20301303, retrieved 2019-11-18
Rivero-García, Pamela; Campuzano-Estrada, Isabel del Carmen; Hernandez-Felix, Jorge Humberto (2023). "Hypertrophic cardiomyopathy in an adult patient with Noonan syndrome with multiple lentigines". Clinical Case Reports. 11 (6): e7607. doi:10.1002/ccr3.7607. ISSN 2050-0904. PMC 10290193. PMID 37361648.
Linglart, Léa; Gelb, Bruce D. (2020-02-05). "Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment". American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 184 (1): 73–80. doi:10.1002/ajmg.c.31765. ISSN 1552-4868. PMC 7682536. PMID 32022400.
Roelofs, Renée L.; Janssen, Nikki; Wingbermühle, Ellen; Kessels, Roy P.C.; Egger, Jos I.M. (2016-05-03). "Intellectual development in Noonan syndrome: a longitudinal study". Brain and Behavior. 6 (7): e00479. doi:10.1002/brb3.479. ISSN 2162-3279. PMC 4864201. PMID 27247851.
Unuma, Kana; Tomomasa, Dan; Noma, Kosuke; Yamamoto, Kouhei; Matsuyama, Taka-aki; Makino, Yohsuke; Hijikata, Atsushi; Wen, Shuheng; Ogata, Tsutomu; Okamoto, Nobuhiko; Okada, Satoshi; Ohashi, Kenichi; Uemura, Koichi; Kanegane, Hirokazu (2023-04-18). "Case Report: Molecular autopsy underlie COVID-19-associated sudden, unexplained child mortality". Frontiers in Immunology. 14. doi:10.3389/fimmu.2023.1121059. ISSN 1664-3224. PMC 10151512. PMID 37143668.
El Bouchikhi, Ihssane; Belhassan, Khadija; Moufid, Fatima Zohra; Iraqui Houssaini, Mohammed; Bouguenouch, Laila; Samri, Imane; Atmani, Samir; Ouldim, Karim (2016). "Noonan syndrome-causing genes: Molecular update and an assessment of the mutation rate". International Journal of Pediatrics and Adolescent Medicine. 3 (4): 133–142. doi:10.1016/j.ijpam.2016.06.003. ISSN 2352-6467. PMC 6372459. PMID 30805484.
De Luca A, Bottillo I, Sarkozy A, Carta C, Neri C, Bellacchio E, et al. (December 2005). "NF1 gene mutations represent the major molecular event underlying neurofibromatosis–Noonan syndrome". American Journal of Human Genetics. 77 (6): 1092–101. doi:10.1086/498454. PMC 1285166. PMID 16380919.
Roberts, Amy E.; Allanson, Judith E.; Tartaglia, Marco; Gelb, Bruce D. (2013-01-26). "Noonan syndrome". Lancet. 381 (9863): 333–342. doi:10.1016/S0140-6736(12)61023-X. ISSN 1474-547X. PMC 4267483. PMID 23312968.
Allanson, Judith E.; Roberts, Amy E. (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Noonan Syndrome", GeneReviews®, University of Washington, Seattle, PMID 20301303, retrieved 2019-11-25
Allanson, J. E.; Upadhyaya, M.; Watson, G. H.; Partington, M.; MacKenzie, A.; Lahey, D.; MacLeod, H.; Sarfarazi, M.; Broadhead, W.; Harper, P. S. (November 1991). "Watson syndrome: is it a subtype of type 1 neurofibromatosis?". Journal of Medical Genetics. 28 (11): 752–756. doi:10.1136/jmg.28.11.752. ISSN 0022-2593. PMC 1017110. PMID 1770531.
Kerr, B.; Delrue, M.-A.; Sigaudy, S.; Perveen, R.; Marche, M.; Burgelin, I.; Stef, M.; Tang, B.; Eden, O. B.; O'Sullivan, J.; De Sandre-Giovannoli, A. (May 2006). "Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases". Journal of Medical Genetics. 43 (5): 401–405. doi:10.1136/jmg.2005.040352. ISSN 1468-6244. PMC 2564514. PMID 16443854.
Morris, Colleen A. (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Williams Syndrome", GeneReviews®, University of Washington, Seattle, PMID 20301427, retrieved 2019-11-25

ghr.nlm.nih.gov

"Noonan syndrome". Genetics Home Reference. Retrieved 24 December 2018.

rarediseases.info.nih.gov

"Noonan syndrome". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. Retrieved 25 December 2018.

rarediseases.org

"Noonan Syndrome". NORD (National Organization for Rare Disorders). 2016. Retrieved 24 December 2018.

semanticscholar.org

api.semanticscholar.org

Romano, Alicia A.; Allanson, Judith E.; Dahlgren, Jovanna; Gelb, Bruce D.; Hall, Bryan; Pierpont, Mary Ella; Roberts, Amy E.; Robinson, Wanda; Takemoto, Clifford M.; Noonan, Jacqueline A. (October 2010). "Noonan syndrome: clinical features, diagnosis, and management guidelines". Pediatrics. 126 (4): 746–759. doi:10.1542/peds.2009-3207. ISSN 1098-4275. PMID 20876176. S2CID 11297756.
Anderson, Kailyn; Cnota, James; James, Jeanne; Miller, Erin M.; Parrott, Ashley; Pilipenko, Valentina; Weaver, Kathryn Nicole; Shikany, Amy (2018-12-16). "Prevalence of Noonan spectrum disorders in a pediatric population with valvar pulmonary stenosis". Congenital Heart Disease. 14 (2): 264–273. doi:10.1111/chd.12721. ISSN 1747-079X. PMID 30556322. S2CID 58767341.
Wingbermühle, E.; Roelofs, R. L.; van der Burgt, I.; Souren, P. M.; Verhoeven, W. M. A.; Kessels, R. P. C.; Egger, J. I. M. (2012-08-10). "Cognitive functioning of adults with Noonan syndrome: a case-control study". Genes, Brain and Behavior. 11 (7): 785–793. doi:10.1111/j.1601-183x.2012.00821.x. hdl:2066/110589. ISSN 1601-1848. PMID 22783933. S2CID 31704142.
Galarza, Marcelo; Martínez-Lage, Juan F.; Ham, Steven; Sood, Sandeep (2010). "Cerebral Anomalies and Chiari Type 1 Malformation". Pediatric Neurosurgery. 46 (6): 442–449. doi:10.1159/000327220. ISSN 1016-2291. PMID 21540621. S2CID 11867857.
Davico, Chiara; D'Alessandro, Rossella; Borgogno, Marta; Campagna, Filippa; Torta, Francesca; Ricci, Federica; Amianto, Federico; Vittorini, Roberta; Carli, Diana; Mussa, Alessandro; Vitiello, Benedetto; Ferrero, Giovanni Battista (2022-05-16). "Epilepsy in a cohort of children with Noonan syndrome and related disorders". European Journal of Pediatrics. 181 (8): 2919–2926. doi:10.1007/s00431-022-04497-6. ISSN 1432-1076. PMID 35575813. S2CID 248800780.
Razzaque MA, Komoike Y, Nishizawa T, Inai K, Furutani M, Higashinakagawa T, Matsuoka R (March 2012). "Characterization of a novel KRAS mutation identified in Noonan syndrome". American Journal of Medical Genetics. Part A. 158A (3): 524–32. doi:10.1002/ajmg.a.34419. PMID 22302539. S2CID 34135931.
Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, et al. (December 2001). "Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome". Nature Genetics. 29 (4): 465–8. doi:10.1038/ng772. PMID 11704759. S2CID 14627986.
Shchelochkov OA, Patel A, Weissenberger GM, Chinault AC, Wiszniewska J, Fernandes PH, et al. (April 2008). "Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome". American Journal of Medical Genetics. Part A. 146A (8): 1042–8. doi:10.1002/ajmg.a.32215. PMID 18348260. S2CID 205309115.
Schubbert S, Zenker M, Rowe SL, Böll S, Klein C, Bollag G, et al. (March 2006). "Germline KRAS mutations cause Noonan syndrome". Nature Genetics. 38 (3): 331–6. doi:10.1038/ng1748. PMID 16474405. S2CID 8193354.
Bentires-Alj M, Kontaridis MI, Neel BG (March 2006). "Stops along the RAS pathway in human genetic disease". Nature Medicine. 12 (3): 283–5. doi:10.1038/nm0306-283. PMID 16520774. S2CID 6989331.
Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, et al. (January 2007). "Germline gain-of-function mutations in SOS1 cause Noonan syndrome". Nature Genetics. 39 (1): 70–4. doi:10.1038/ng1926. PMID 17143285. S2CID 10222262.
Razzaque MA, Nishizawa T, Komoike Y, Yagi H, Furutani M, Amo R, et al. (August 2007). "Germline gain-of-function mutations in RAF1 cause Noonan syndrome". Nature Genetics. 39 (8): 1013–7. doi:10.1038/ng2078. PMID 17603482. S2CID 29753972.
Armour, C. M.; Allanson, J. E. (April 2008). "Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations". Journal of Medical Genetics. 45 (4): 249–254. doi:10.1136/jmg.2007.054460. ISSN 1468-6244. PMID 18039946. S2CID 9742395.
Gripp, Karen W.; Lin, Angela E.; Stabley, Deborah L.; Nicholson, Linda; Scott, Charles I.; Doyle, Daniel; Aoki, Yoko; Matsubara, Yoichi; Zackai, Elaine H.; Lapunzina, Pablo; Gonzalez-Meneses, Antonio (2006-01-01). "HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation". American Journal of Medical Genetics Part A. 140A (1): 1–7. doi:10.1002/ajmg.a.31047. ISSN 1552-4825. PMID 16329078. S2CID 27334655.
Bertola, Debora R.; Pereira, Alexandre C.; Passetti, Fábio; de Oliveira, Paulo S.L.; Messiaen, Ludwine; Gelb, Bruce D.; Kim, Chong A.; Krieger, José Eduardo (2005-07-30). "Neurofibromatosis–Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient". American Journal of Medical Genetics Part A. 136A (3): 242–245. doi:10.1002/ajmg.a.30813. ISSN 1552-4825. PMID 15948193. S2CID 40235559.

web.archive.org

"Download Catalog - Mayo Medical Laboratories". www.mayomedicallaboratories.com. Archived from the original on 2017-05-17. Retrieved 2014-07-08.

worldcat.org

search.worldcat.org

Romano, Alicia A.; Allanson, Judith E.; Dahlgren, Jovanna; Gelb, Bruce D.; Hall, Bryan; Pierpont, Mary Ella; Roberts, Amy E.; Robinson, Wanda; Takemoto, Clifford M.; Noonan, Jacqueline A. (October 2010). "Noonan syndrome: clinical features, diagnosis, and management guidelines". Pediatrics. 126 (4): 746–759. doi:10.1542/peds.2009-3207. ISSN 1098-4275. PMID 20876176. S2CID 11297756.
Anderson, Kailyn; Cnota, James; James, Jeanne; Miller, Erin M.; Parrott, Ashley; Pilipenko, Valentina; Weaver, Kathryn Nicole; Shikany, Amy (2018-12-16). "Prevalence of Noonan spectrum disorders in a pediatric population with valvar pulmonary stenosis". Congenital Heart Disease. 14 (2): 264–273. doi:10.1111/chd.12721. ISSN 1747-079X. PMID 30556322. S2CID 58767341.
Rivero-García, Pamela; Campuzano-Estrada, Isabel del Carmen; Hernandez-Felix, Jorge Humberto (2023). "Hypertrophic cardiomyopathy in an adult patient with Noonan syndrome with multiple lentigines". Clinical Case Reports. 11 (6): e7607. doi:10.1002/ccr3.7607. ISSN 2050-0904. PMC 10290193. PMID 37361648.
Marino, Bruno; Digilio, Maria Cristina; Toscano, Alessandra; Giannotti, Aldo; Dallapiccola, Bruno (December 1999). "Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal". The Journal of Pediatrics. 135 (6): 703–706. doi:10.1016/s0022-3476(99)70088-0. ISSN 0022-3476. PMID 10586172.
Linglart, Léa; Gelb, Bruce D. (2020-02-05). "Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment". American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 184 (1): 73–80. doi:10.1002/ajmg.c.31765. ISSN 1552-4868. PMC 7682536. PMID 32022400.
Roelofs, Renée L.; Janssen, Nikki; Wingbermühle, Ellen; Kessels, Roy P.C.; Egger, Jos I.M. (2016-05-03). "Intellectual development in Noonan syndrome: a longitudinal study". Brain and Behavior. 6 (7): e00479. doi:10.1002/brb3.479. ISSN 2162-3279. PMC 4864201. PMID 27247851.
van der Burgt, Ineke; Thoonen, Geert; Roosenboom, Natasja; Assman-Hulsmans, Claire; Gabreels, Fons; Otten, Barto; Brunner, Han G. (1999). "Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression". The Journal of Pediatrics. 135 (6): 707–713. doi:10.1016/s0022-3476(99)70089-2. ISSN 0022-3476. PMID 10586173.
Wingbermühle, E.; Roelofs, R. L.; van der Burgt, I.; Souren, P. M.; Verhoeven, W. M. A.; Kessels, R. P. C.; Egger, J. I. M. (2012-08-10). "Cognitive functioning of adults with Noonan syndrome: a case-control study". Genes, Brain and Behavior. 11 (7): 785–793. doi:10.1111/j.1601-183x.2012.00821.x. hdl:2066/110589. ISSN 1601-1848. PMID 22783933. S2CID 31704142.
Galarza, Marcelo; Martínez-Lage, Juan F.; Ham, Steven; Sood, Sandeep (2010). "Cerebral Anomalies and Chiari Type 1 Malformation". Pediatric Neurosurgery. 46 (6): 442–449. doi:10.1159/000327220. ISSN 1016-2291. PMID 21540621. S2CID 11867857.
Davico, Chiara; D'Alessandro, Rossella; Borgogno, Marta; Campagna, Filippa; Torta, Francesca; Ricci, Federica; Amianto, Federico; Vittorini, Roberta; Carli, Diana; Mussa, Alessandro; Vitiello, Benedetto; Ferrero, Giovanni Battista (2022-05-16). "Epilepsy in a cohort of children with Noonan syndrome and related disorders". European Journal of Pediatrics. 181 (8): 2919–2926. doi:10.1007/s00431-022-04497-6. ISSN 1432-1076. PMID 35575813. S2CID 248800780.
Unuma, Kana; Tomomasa, Dan; Noma, Kosuke; Yamamoto, Kouhei; Matsuyama, Taka-aki; Makino, Yohsuke; Hijikata, Atsushi; Wen, Shuheng; Ogata, Tsutomu; Okamoto, Nobuhiko; Okada, Satoshi; Ohashi, Kenichi; Uemura, Koichi; Kanegane, Hirokazu (2023-04-18). "Case Report: Molecular autopsy underlie COVID-19-associated sudden, unexplained child mortality". Frontiers in Immunology. 14. doi:10.3389/fimmu.2023.1121059. ISSN 1664-3224. PMC 10151512. PMID 37143668.
Fernández, Delia I.; Diender, Marije; Hermida-Nogueira, Lidia; Huang, Jingnan; Veiras, Sonia; Henskens, Yvonne M.C.; te Loo, Maroeska W.M.; Heemskerk, Johan W.M.; Kuijpers, Marijke J.E.; García, Ángel (2023). "Role of SHP2 (PTPN11) in glycoprotein VI-dependent thrombus formation: Improved platelet responsiveness by the allosteric drug SHP099 in Noonan syndrome patients". Thrombosis Research. 228: 105–116. doi:10.1016/j.thromres.2023.06.001. ISSN 0049-3848. PMID 37302266.
Sharland, Michael; Morgan, Maureen; Smith, Gill; Burch, Michael; Patton, Michael A. (1993-02-15). "Genetic counselling in Noonan syndrome". American Journal of Medical Genetics. 45 (4): 437–440. doi:10.1002/ajmg.1320450407. ISSN 0148-7299. PMID 8465845.
El Bouchikhi, Ihssane; Belhassan, Khadija; Moufid, Fatima Zohra; Iraqui Houssaini, Mohammed; Bouguenouch, Laila; Samri, Imane; Atmani, Samir; Ouldim, Karim (2016). "Noonan syndrome-causing genes: Molecular update and an assessment of the mutation rate". International Journal of Pediatrics and Adolescent Medicine. 3 (4): 133–142. doi:10.1016/j.ijpam.2016.06.003. ISSN 2352-6467. PMC 6372459. PMID 30805484.
Zenker, Martin; Buheitel, Gernot; Rauch, Ralf; Koenig, Rainer; Bosse, Kirstin; Kress, Wolfram; Tietze, Hans-Ulrich; Doerr, Helmuth-Guenther; Hofbeck, Michael; Singer, Helmut; Reis, André; Rauch, Anita (2004). "Genotype-phenotype correlations in Noonan syndrome". The Journal of Pediatrics. 144 (3): 368–374. doi:10.1016/j.jpeds.2003.11.032. ISSN 0022-3476. PMID 15001945.
Ko, Jung Min; Kim, Jae-Min; Kim, Gu-Hwan; Yoo, Han-Wook (2008-11-20). "PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype–phenotype correlation in Korean patients with Noonan syndrome". Journal of Human Genetics. 53 (11–12): 999–1006. doi:10.1007/s10038-008-0343-6. ISSN 1434-5161. PMID 19020799.
Lee, Beom Hee; Kim, Jae-Min; Jin, Hye Young; Kim, Gu-Hwan; Choi, Jin-Ho; Yoo, Han-Wook (2011). "Spectrum of Mutations in Noonan Syndrome and Their Correlation with Phenotypes". The Journal of Pediatrics. 159 (6): 1029–1035. doi:10.1016/j.jpeds.2011.05.024. ISSN 0022-3476. PMID 21784453.
Roberts, Amy E.; Allanson, Judith E.; Tartaglia, Marco; Gelb, Bruce D. (2013-01-26). "Noonan syndrome". Lancet. 381 (9863): 333–342. doi:10.1016/S0140-6736(12)61023-X. ISSN 1474-547X. PMC 4267483. PMID 23312968.
Allanson, J. E.; Upadhyaya, M.; Watson, G. H.; Partington, M.; MacKenzie, A.; Lahey, D.; MacLeod, H.; Sarfarazi, M.; Broadhead, W.; Harper, P. S. (November 1991). "Watson syndrome: is it a subtype of type 1 neurofibromatosis?". Journal of Medical Genetics. 28 (11): 752–756. doi:10.1136/jmg.28.11.752. ISSN 0022-2593. PMC 1017110. PMID 1770531.
Armour, C. M.; Allanson, J. E. (April 2008). "Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations". Journal of Medical Genetics. 45 (4): 249–254. doi:10.1136/jmg.2007.054460. ISSN 1468-6244. PMID 18039946. S2CID 9742395.
Kerr, B.; Delrue, M.-A.; Sigaudy, S.; Perveen, R.; Marche, M.; Burgelin, I.; Stef, M.; Tang, B.; Eden, O. B.; O'Sullivan, J.; De Sandre-Giovannoli, A. (May 2006). "Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases". Journal of Medical Genetics. 43 (5): 401–405. doi:10.1136/jmg.2005.040352. ISSN 1468-6244. PMC 2564514. PMID 16443854.
Gripp, Karen W.; Lin, Angela E.; Stabley, Deborah L.; Nicholson, Linda; Scott, Charles I.; Doyle, Daniel; Aoki, Yoko; Matsubara, Yoichi; Zackai, Elaine H.; Lapunzina, Pablo; Gonzalez-Meneses, Antonio (2006-01-01). "HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation". American Journal of Medical Genetics Part A. 140A (1): 1–7. doi:10.1002/ajmg.a.31047. ISSN 1552-4825. PMID 16329078. S2CID 27334655.
Bertola, Debora R.; Pereira, Alexandre C.; Passetti, Fábio; de Oliveira, Paulo S.L.; Messiaen, Ludwine; Gelb, Bruce D.; Kim, Chong A.; Krieger, José Eduardo (2005-07-30). "Neurofibromatosis–Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient". American Journal of Medical Genetics Part A. 136A (3): 242–245. doi:10.1002/ajmg.a.30813. ISSN 1552-4825. PMID 15948193. S2CID 40235559.
Noonan, Jacqueline A. (1968-10-01). "Hypertelorism With Turner Phenotype: A New Syndrome With Associated Congenital Heart Disease". American Journal of Diseases of Children. 116 (4): 373–80. doi:10.1001/archpedi.1968.02100020377005. ISSN 0002-922X. PMID 4386970.