Нунанов синдром (Serbian Wikipedia)

Analysis of information sources in references of the Wikipedia article "Нунанов синдром" in Serbian language version.

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Houweling AC, de Mooij YM, van der Burgt I; et al. (март 2010). „Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes.”. Prenat Diagn. 30 (3): 284—6. PMID 20112233. doi:10.1002/pd.2458. .
Shaw AC, Kalidas K, Crosby AH; et al. (фебруар 2007). „The natural history of Noonan syndrome: a long-term follow-up study”. Arch Dis Child. 92 (2): 128—32. PMC 2083343 . PMID 16990350. doi:10.1136/adc.2006.104547. . Epub 2006 Sep 21.
Sharland, M., M. Burch; et al. (1992). „A clinical study of Noonan syndrome.”. Arch Dis Child. 67 (2): 178—83. PMC 1793396 . PMID 1543375. doi:10.1136/adc.67.2.178. .
Burch, M., M. Sharland; et al. (1993). „Cardiologic abnormalities in Noonan syndrome: phenotypic diagnosis and echocardiographic assessment of 118 patients.”. Journal of the American College of Cardiology. 22 (4): 1189—92. PMID 8409059. doi:10.1016/0735-1097(93)90436-5. .
Burch, T. M., F. X. McGowan, Jr.; et al. (2008). „Congenital Supravalvular Aortic Stenosis and Sudden Death Associated with Anesthesia: What's the Mystery?”. Anesth Analg. 107 (6): 1848—1854. PMID 19020129. doi:10.1213/ane.0b013e3181875a4d. .
Heuschmann, D., O. Butenandt; et al. (1996). „Left ventricular volume and mass in children on growth hormone therapy compared with untreated children.”. European Journal of Pediatrics. 155 (2): 77—80. PMID 8775217. doi:10.1007/BF02075754. .
Allanson, J. E (1987). „Noonan syndrome.”. Journal of Medical Genetics. 24 (1): 9—13. PMC 1049850 . PMID 3543368. doi:10.1136/jmg.24.1.9. .
Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, Kucherlapati RS, Jeffery S, Patton MA, Gelb BD (2002). „PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity”. Am J Hum Genet. 70 (6): 1555—63. PMC 379142 . PMID 11992261. doi:10.1086/340847.
Allanson, J. E.; Upadhyaya, M.; Watson, G. H.; Partington, M.; MacKenzie, A.; Lahey, D.; MacLeod, H.; Sarfarazi, M.; Broadhead, W.; Harper, P. S. (1991). „Watson syndrome: Is it a subtype of type 1 neurofibromatosis?”. Journal of Medical Genetics. 28 (11): 752—756. PMC 1017110 . PMID 1770531. doi:10.1136/jmg.28.11.752.
Wilkinson JD, Lowe AM, Salbert BA, Sleeper LA, Colan SD, Cox GF, Towbin JA, Connuck DM, Messere JE, Lipshultz SE (2012). „Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: a study from the Pediatric Cardiomyopathy Registry”. Am Heart J. 164 (3): 442—8. PMID 22980313. doi:10.1016/j.ahj.2012.04.018.
Hunt, Beverley J. (2014). „Bleeding and Coagulopathies in Critical Care”. New England Journal of Medicine. 370 (9): 847—859. PMID 24571757. doi:10.1056/NEJMra1208626.

doi.org

Houweling AC, de Mooij YM, van der Burgt I; et al. (март 2010). „Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes.”. Prenat Diagn. 30 (3): 284—6. PMID 20112233. doi:10.1002/pd.2458. .
Miller, Bradley S. (2019). „The History of Noonan Syndrome”. Pediatric Endocrinology Reviews: PER. 16 (Suppl 2): 424—427. ISSN 1565-4753. PMID 31115193. doi:10.17458/per.vol16.2019.m.historynoonan.
J. M. Opitz (1985). „The Noonan syndrome (editorial).”. American Journal of Medical Genetics. 21 (3): 515—518. PMID 3895930. doi:10.1002/ajmg.1320210314. .
J. A. Noonan (1968). „Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease.”. American Journal of Diseases of Children. 116 (4): 373—380. PMID 4386970. doi:10.1001/archpedi.1968.02100020377005. .
Ziegler, Alban; Loundon, Natalie; Jonard, Laurence; Cavé, Hélène; Baujat, Geneviève; Gherbi, Souad; Couloigner, Vincent; Marlin, Sandrine (2017). „Noonan Syndrome: An Underestimated Cause of Severe to Profound Sensorineural Hearing Impairment. Which Clues to Suspect the Diagnosis?”. Otology & Neurotology: Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology. 38 (8): 1081—1084. ISSN 1537-4505. PMID 28742629. doi:10.1097/MAO.0000000000001509.
Turner, Anne M. (2014). „Noonan syndrome”. Journal of Paediatrics and Child Health. 50 (10): E14—20. PMID 21771153. doi:10.1111/j.1440-1754.2010.01970.x.
Shaw AC, Kalidas K, Crosby AH; et al. (фебруар 2007). „The natural history of Noonan syndrome: a long-term follow-up study”. Arch Dis Child. 92 (2): 128—32. PMC 2083343 . PMID 16990350. doi:10.1136/adc.2006.104547. . Epub 2006 Sep 21.
van Trier DC, van Nierop J, Draaisma JM; et al. (јун 2015). „External ear anomalies and hearing impairment in Noonan Syndrome”. Int J Pediatr Otorhinolaryngol. 79 (6): 874—8. PMID 25862627. doi:10.1016/j.ijporl.2015.03.021. .
Roberts AE, Allanson JE, Tartaglia M, Gelb BD (2013). „Noonan syndrome”. Lancet. 381 (9863): 333—42. PMC 4267483 . PMID 23312968. doi:10.1016/S0140-6736(12)61023-X.
Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, et al. (децембар 2001). „Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome”. Nature Genetics. 29 (4): 465—8. PMID 11704759. S2CID 14627986. doi:10.1038/ng772.
Shchelochkov OA, Patel A, Weissenberger GM, Chinault AC, Wiszniewska J, Fernandes PH, et al. (април 2008). „Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome”. American Journal of Medical Genetics. Part A. 146A (8): 1042—8. PMID 18348260. S2CID 205309115. doi:10.1002/ajmg.a.32215.
van Der Burgt I, Brunner H (септембар 2000). „Genetic heterogeneity in Noonan syndrome: evidence for an autosomal recessive form”. American Journal of Medical Genetics. 94 (1): 46—51. PMID 10982482. doi:10.1002/1096-8628(20000904)94:1<46::AID-AJMG10>3.0.CO;2-I.
Schubbert S, Zenker M, Rowe SL, Böll S, Klein C, Bollag G, et al. (март 2006). „Germline KRAS mutations cause Noonan syndrome”. Nature Genetics. 38 (3): 331—6. PMID 16474405. S2CID 8193354. doi:10.1038/ng1748.
Bentires-Alj M, Kontaridis MI, Neel BG (март 2006). „Stops along the RAS pathway in human genetic disease”. Nature Medicine. 12 (3): 283—5. PMID 16520774. S2CID 6989331. doi:10.1038/nm0306-283.
Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, et al. (јануар 2007). „Germline gain-of-function mutations in SOS1 cause Noonan syndrome”. Nature Genetics. 39 (1): 70—4. PMID 17143285. S2CID 10222262. doi:10.1038/ng1926.
Razzaque MA, Nishizawa T, Komoike Y, Yagi H, Furutani M, Amo R, et al. (август 2007). „Germline gain-of-function mutations in RAF1 cause Noonan syndrome”. Nature Genetics. 39 (8): 1013—7. PMID 17603482. S2CID 29753972. doi:10.1038/ng2078.
Sharland, M., M. Burch; et al. (1992). „A clinical study of Noonan syndrome.”. Arch Dis Child. 67 (2): 178—83. PMC 1793396 . PMID 1543375. doi:10.1136/adc.67.2.178. .
Burch, M., M. Sharland; et al. (1993). „Cardiologic abnormalities in Noonan syndrome: phenotypic diagnosis and echocardiographic assessment of 118 patients.”. Journal of the American College of Cardiology. 22 (4): 1189—92. PMID 8409059. doi:10.1016/0735-1097(93)90436-5. .
Burch, T. M., F. X. McGowan, Jr.; et al. (2008). „Congenital Supravalvular Aortic Stenosis and Sudden Death Associated with Anesthesia: What's the Mystery?”. Anesth Analg. 107 (6): 1848—1854. PMID 19020129. doi:10.1213/ane.0b013e3181875a4d. .
Heuschmann, D., O. Butenandt; et al. (1996). „Left ventricular volume and mass in children on growth hormone therapy compared with untreated children.”. European Journal of Pediatrics. 155 (2): 77—80. PMID 8775217. doi:10.1007/BF02075754. .
Nosan G, Bertok S, Vesel S, Yntema HG, Paro-Panjan D (децембар 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. PMC 3893993 . PMID 24382853. doi:10.3325/cmj.2013.54.574.
Emral, M. E. and M. O. Akcam (2009). „Noonan syndrome: a case report.”. J Oral Sci. 51 (2): 301—6. PMID 19550102. doi:10.2334/josnusd.51.301. .
Allanson, J. E (1987). „Noonan syndrome.”. Journal of Medical Genetics. 24 (1): 9—13. PMC 1049850 . PMID 3543368. doi:10.1136/jmg.24.1.9. .
Chiari H. (1891). „Über Veränderungen des Kleinhirns infolge von Hydrocephalie des Grosshirns”. Deutsche Medizinische Wochenschrift. 17 (42): 1172—75. doi:10.1055/s-0029-1206803. (Erstbeschreibung)
Sarkozy A, Carta C, Moretti S, Zampino G, Digilio MC, Pantaleoni F, Scioletti AP, Esposito G, Cordeddu V, Lepri F, Petrangeli V, Dentici ML, Mancini GM, Selicorni A, Rossi C, Mazzanti L, Marino B, Ferrero GB, Silengo MC, Memo L, Stanzial F, Faravelli F, Stuppia L, Puxeddu E, Gelb BD, Dallapiccola B, Tartaglia M (2009). „Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum”. Hum Mutat. 30 (4): 695—702. PMC 4028130 . PMID 19206169. doi:10.1002/humu.20955.
Schubbert S, Zenker M, Rowe SL, Böll S, Klein C, Bollag G, van der Burgt I, Musante L, Kalscheuer V, Wehner LE, Nguyen H, West B, Zhang KY, Sistermans E, Rauch A, Niemeyer CM, Shannon K, Kratz CP (2006). „Germline KRAS mutations cause Noonan syndrome”. Nat Genet. 38 (3): 331—6. PMID 16474405. doi:10.1038/ng1748.
Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky MS, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AA, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR (2015). „Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome”. J Med Genet. 52 (6): 413—21. PMID 25795793. doi:10.1136/jmedgenet-2015-103018.
Nava C, Hanna N, Michot C, Pereira S, Pouvreau N, Niihori T, Aoki Y, Matsubara Y, Arveiler B, Lacombe D, Pasmant E, Parfait B, Baumann C, Heron D, Sigaudy S, Toutain A, Rio M, Goldenberg A, Leheup B, Verloes A, Cave H (2007). „CFC and Noonan syndromes due to mutations in RAS/MAPK signaling pathway: genotype/phenotype relationships and overlap with Costello syndrome”. J Med Genet. 44 (12): 763—71. PMC 2652823 . PMID 17704260. doi:10.1136/jmg.2007.050450.
Motta M, Fidan M, Bellacchio E, Pantaleoni F, Schneider-Heieck K, Coppola S, Borck G, Salviati L, Zenker M, Cirstea IC, Tartaglia M (2019). „Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling”. Hum Mol Genet. 28 (6): 1007—22. PMID 30481304. doi:10.1093/hmg/ddy412.
Altmüller F, Lissewski C, Bertola D, Flex E, Stark Z, Spranger S, Baynam G, Buscarilli M, Dyack S, Gillis J, Yntema HG, Pantaleoni F, van Loon RL, MacKay S, Mina K, Schanze I, Tan TY, Walsh M, White SM, Niewisch MR, García-Miñaúr S, Plaza D, Ahmadian MR, Cavé H, Tartaglia M, Zenker M. Altmüller, Franziska; Lissewski, Christina; Bertola, Debora; Flex, Elisabetta; Stark, Zornitza; Spranger, Stephanie; Baynam, Gareth; Buscarilli, Michelle; Dyack, Sarah; Gillis, Jane; Yntema, Helger G.; Pantaleoni, Francesca; Van Loon, Rosa LE; MacKay, Sara; Mina, Kym; Schanze, Ina; Tan, Tiong Yang; Walsh, Maie; White, Susan M.; Niewisch, Marena R.; García-Miñaúr, Sixto; Plaza, Diego; Ahmadian, Mohammad Reza; Cavé, Hélène; Tartaglia, Marco; Zenker, Martin (2017). „Genotype and phenotype spectrum of NRAS germline variants”. Eur J Hum Genet. 25 (7): 823—31. PMC 5520077 . PMID 28594414. doi:10.1038/ejhg.2017.65.
Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, Kucherlapati RS, Jeffery S, Patton MA, Gelb BD (2002). „PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity”. Am J Hum Genet. 70 (6): 1555—63. PMC 379142 . PMID 11992261. doi:10.1086/340847.
Shchelochkov OA, Patel A, Weissenberger GM, Chinault AC, Wiszniewska J, Fernandes PH, Eng C, Kukolich MK, Sutton VR (2008). „Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome”. The American Journal of Medical Genetics A. 146A (8): 1042—8. PMID 18348260. doi:10.1002/ajmg.a.32215.
Lissewski C, Kant SG, Stark Z, Schanze I, Zenker M (2015). „Copy number variants including RAS pathway genes-how much RASopathy is in the phenotype?”. The American Journal of Medical Genetics A. 167A (11): 2685—90. PMID 25974318. doi:10.1002/ajmg.a.37155.
Aoki Y, Niihori T, Inoue SI, Matsubara Y (2016). „Recent advances in RASopathies”. J Hum Genet. 61 (1): 33—9. PMID 26446362. doi:10.1038/jhg.2015.114.
Luo C, Yang YF, Yin BL, Chen JL, Huang C, Zhang WZ, Wang J, Zhang H, Yang JF, Tan ZP (2012). „Microduplication of 3p25.2 encompassing RAF1 associated with congenital heart disease suggestive of Noonan syndrome”. The American Journal of Medical Genetics A. 158A (8): 1918—23. PMID 22786616. doi:10.1002/ajmg.a.35471.
Sana ME, Spitaleri A, Spiliotopoulos D, Pezzoli L, Preda L, Musco G, Ferrazzi P, Iascone M (2014). „Identification of a novel de novo deletion in RAF1 associated with biventricular hypertrophy in Noonan syndrome”. The American Journal of Medical Genetics A. 164A (8): 2069—73. PMID 24782337. doi:10.1002/ajmg.a.36588.
Chen PC, Yin J, Yu HW, Yuan T, Fernandez M, Yung CK, Trinh QM, Peltekova VD, Reid JG, Tworog-Dube E, Morgan MB. Muzny DM6, Stein L, McPherson JD, Roberts AE, Gibbs RA, Neel BG, Kucherlapati R. Chen, Peng-Chieh; Yin, Jiani; Yu, Hui-Wen; Yuan, Tao; Fernandez, Minerva; Yung, Christina K.; Trinh, Quang M.; Peltekova, Vanya D.; Reid, Jeffrey G.; Tworog-Dube, Erica; Morgan, Margaret B.; Muzny, Donna M.; Stein, Lincoln; McPherson, John D.; Roberts, Amy E.; Gibbs, Richard A.; Neel, Benjamin G.; Kucherlapati, Raju (2014b). „Next-generation sequencing identifies rare variants associated with Noonan syndrome”. Proc Natl Acad Sci U S A. 111 (31): 11473—8. Bibcode:2014PNAS..11111473C. PMC 4128129 . PMID 25049390. doi:10.1073/pnas.1324128111 .
Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, Li L, Yassin Y, Tamburino AM, Neel BG, Kucherlapati RS (2007). „Germline gain-of-function mutations in SOS1 cause Noonan syndrome”. Nat Genet. 39: 70—4. PMID 17143285. doi:10.1038/ng1926.
Cordeddu V, Yin JC, Gunnarsson C, Virtanen C, Drunat S, Lepri F, De Luca A, Rossi C, Ciolfi A, Pugh TJ, Bruselles A, Priest JR, Pennacchio LA, Lu Z, Danesh A, Quevedo R, Hamid A, Martinelli S, Pantaleoni F, Gnazzo M, Daniele P, Lissewski C, Bocchinfuso G, Stella L, Odent S, Philip N, Faivre L, Vlckova M, Seemanova E, Digilio C, Zenker M, Zampino G, Verloes A, Dallapiccola B, Roberts AE, Cavé H, Gelb BD, Neel BG, Tartaglia M (2015). „Activating mutations affecting the Dbl homology domain of SOS2 cause Noonan syndrome”. Hum Mutat. 36 (11): 1080—7. PMC 4604019 . PMID 26173643. doi:10.1002/humu.22834. hdl:2108/118204.
Flex E, Jaiswal M, Pantaleoni F, Martinelli S, Strullu M, Fansa EK, Caye A, De Luca A, Lepri F, Dvorsky R, Pannone L, Paolacci S, Zhang SC, Fodale V, Bocchinfuso G, Rossi C, Burkitt-Wright EM, Farrotti A, Stellacci E, Cecchetti S, Ferese R, Bottero L, Castro S, Fenneteau O, Brethon B, Sanchez M, Roberts AE, Yntema HG, Van Der Burgt I, Cianci P, Bondeson ML, Cristina Digilio M, Zampino G, Kerr B, Aoki Y, Loh ML, Palleschi A, Di Schiavi E, Carè A, Selicorni A, Dallapiccola B, Cirstea IC, Stella L, Zenker M, Gelb BD, Cavé H, Ahmadian MR, Tartaglia M. Flex, E.; et al. (2014). „Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis”. Hum Mol Genet. 23 (16): 4315—27. PMC 4103678 . PMID 24705357. doi:10.1093/hmg/ddu148.
Allanson, J. E.; Upadhyaya, M.; Watson, G. H.; Partington, M.; MacKenzie, A.; Lahey, D.; MacLeod, H.; Sarfarazi, M.; Broadhead, W.; Harper, P. S. (1991). „Watson syndrome: Is it a subtype of type 1 neurofibromatosis?”. Journal of Medical Genetics. 28 (11): 752—756. PMC 1017110 . PMID 1770531. doi:10.1136/jmg.28.11.752.
Armour, C. M.; Allanson, J. E. (2007). „Further delineation of cardio-facio-cutaneous syndrome: Clinical features of 38 individuals with proven mutations”. Journal of Medical Genetics. 45 (4): 249—254. PMID 18039946. S2CID 9742395. doi:10.1136/jmg.2007.054460.
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). „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. PMID 15948193. S2CID 40235559. doi:10.1002/ajmg.a.30813.
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Rohrer TR, Abuzzahab J, Backeljauw P, Birkegård AC, Blair J, Dahlgren J, Júlíusson PB, Ostrow V, Pietropoli A, Polak M, Romano A, Ross J, Sävendahl L, Miller BS (2020). „Long-Term Effectiveness and Safety of Childhood Growth Hormone Treatment in Noonan Syndrome”. Horm Res Paediatr. 93 (6): 380—395. PMID 33440388. doi:10.1159/000512429.
Linglart L, Gelb BD (2020). „Congenital heart defects in Noonan syndrome: diagnosis, management, and treatment”. The American Journal of Medical Genetics C Semin Med Genet. 184 (1): 73—80. PMC 7682536 . PMID 32022400. doi:10.1002/ajmg.c.31765.
Hickey EJ, Mehta R, Elmi M, Asoh K, McCrindle BW, Williams WG, Manlhiot C, Benson L (2011). „Survival implications: hypertrophic cardiomyopathy in Noonan syndrome”. Congenit Heart Dis. 6 (1): 41—7. PMID 21269411. doi:10.1111/j.1747-0803.2010.00465.x.
Wilkinson JD, Lowe AM, Salbert BA, Sleeper LA, Colan SD, Cox GF, Towbin JA, Connuck DM, Messere JE, Lipshultz SE (2012). „Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: a study from the Pediatric Cardiomyopathy Registry”. Am Heart J. 164 (3): 442—8. PMID 22980313. doi:10.1016/j.ahj.2012.04.018.
Tofil NM, Winkler MK, Watts RG, Noonan J (2005). „The use of recombinant factor VIIa in a patient with Noonan syndrome and life-threatening bleeding”. Pediatr Critical Care Medicine. 6 (3): 352—4. PMID 15857538. doi:10.1097/01.PCC.0000160656.71424.D1.
Villani A, Greer MC, Kalish JM, Nakagawara A, Nathanson KL, Pajtler KW, Pfister SM, Walsh MF, Wasserman JD, Zelley K, Kratz CP (2017). „Recommendations for cancer surveillance in individuals with RASopathies and other rare genetic conditions with increased cancer risk”. Clin Cancer Res. 23 (12): e83—e90. PMID 28620009. doi:10.1158/1078-0432.CCR-17-0631.
Hunt, Beverley J. (2014). „Bleeding and Coagulopathies in Critical Care”. New England Journal of Medicine. 370 (9): 847—859. PMID 24571757. doi:10.1056/NEJMra1208626.

handle.net

hdl.handle.net

Cordeddu V, Yin JC, Gunnarsson C, Virtanen C, Drunat S, Lepri F, De Luca A, Rossi C, Ciolfi A, Pugh TJ, Bruselles A, Priest JR, Pennacchio LA, Lu Z, Danesh A, Quevedo R, Hamid A, Martinelli S, Pantaleoni F, Gnazzo M, Daniele P, Lissewski C, Bocchinfuso G, Stella L, Odent S, Philip N, Faivre L, Vlckova M, Seemanova E, Digilio C, Zenker M, Zampino G, Verloes A, Dallapiccola B, Roberts AE, Cavé H, Gelb BD, Neel BG, Tartaglia M (2015). „Activating mutations affecting the Dbl homology domain of SOS2 cause Noonan syndrome”. Hum Mutat. 36 (11): 1080—7. PMC 4604019 . PMID 26173643. doi:10.1002/humu.22834. hdl:2108/118204.

harvard.edu

adsabs.harvard.edu

Chen PC, Yin J, Yu HW, Yuan T, Fernandez M, Yung CK, Trinh QM, Peltekova VD, Reid JG, Tworog-Dube E, Morgan MB. Muzny DM6, Stein L, McPherson JD, Roberts AE, Gibbs RA, Neel BG, Kucherlapati R. Chen, Peng-Chieh; Yin, Jiani; Yu, Hui-Wen; Yuan, Tao; Fernandez, Minerva; Yung, Christina K.; Trinh, Quang M.; Peltekova, Vanya D.; Reid, Jeffrey G.; Tworog-Dube, Erica; Morgan, Margaret B.; Muzny, Donna M.; Stein, Lincoln; McPherson, John D.; Roberts, Amy E.; Gibbs, Richard A.; Neel, Benjamin G.; Kucherlapati, Raju (2014b). „Next-generation sequencing identifies rare variants associated with Noonan syndrome”. Proc Natl Acad Sci U S A. 111 (31): 11473—8. Bibcode:2014PNAS..11111473C. PMC 4128129 . PMID 25049390. doi:10.1073/pnas.1324128111 .

medlineplus.gov

„Noonan syndrome: MedlinePlus Genetics”. medlineplus.gov (на језику: енглески). Приступљено 2022-02-17.
„Noonan syndrome: MedlinePlus Medical Encyclopedia”. medlineplus.gov (на језику: енглески). Приступљено 2022-02-16.

nih.gov

ncbi.nlm.nih.gov

Bhambhani, V.; Muenke, M. (2014). „Noonan syndrome”. American Family Physician. 89 (1): 37—43. PMC 4099190 . PMID 24444506.
Houweling AC, de Mooij YM, van der Burgt I; et al. (март 2010). „Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes.”. Prenat Diagn. 30 (3): 284—6. PMID 20112233. doi:10.1002/pd.2458. .
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Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, et al. (децембар 2001). „Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome”. Nature Genetics. 29 (4): 465—8. PMID 11704759. S2CID 14627986. doi:10.1038/ng772.
Shchelochkov OA, Patel A, Weissenberger GM, Chinault AC, Wiszniewska J, Fernandes PH, et al. (април 2008). „Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome”. American Journal of Medical Genetics. Part A. 146A (8): 1042—8. PMID 18348260. S2CID 205309115. doi:10.1002/ajmg.a.32215.
Schubbert S, Zenker M, Rowe SL, Böll S, Klein C, Bollag G, et al. (март 2006). „Germline KRAS mutations cause Noonan syndrome”. Nature Genetics. 38 (3): 331—6. PMID 16474405. S2CID 8193354. doi:10.1038/ng1748.
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Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, et al. (јануар 2007). „Germline gain-of-function mutations in SOS1 cause Noonan syndrome”. Nature Genetics. 39 (1): 70—4. PMID 17143285. S2CID 10222262. doi:10.1038/ng1926.
Razzaque MA, Nishizawa T, Komoike Y, Yagi H, Furutani M, Amo R, et al. (август 2007). „Germline gain-of-function mutations in RAF1 cause Noonan syndrome”. Nature Genetics. 39 (8): 1013—7. PMID 17603482. S2CID 29753972. doi:10.1038/ng2078.
Armour, C. M.; Allanson, J. E. (2007). „Further delineation of cardio-facio-cutaneous syndrome: Clinical features of 38 individuals with proven mutations”. Journal of Medical Genetics. 45 (4): 249—254. PMID 18039946. S2CID 9742395. doi:10.1136/jmg.2007.054460.
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). „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. PMID 15948193. S2CID 40235559. doi:10.1002/ajmg.a.30813.

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„Šta je genetsko savetovanje i da li je potrebno novim roditeljima?”. Prenatalni test - Verified (на језику: енглески). 2019-10-03. Приступљено 2022-02-23.

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Cordeddu V, Yin JC, Gunnarsson C, Virtanen C, Drunat S, Lepri F, De Luca A, Rossi C, Ciolfi A, Pugh TJ, Bruselles A, Priest JR, Pennacchio LA, Lu Z, Danesh A, Quevedo R, Hamid A, Martinelli S, Pantaleoni F, Gnazzo M, Daniele P, Lissewski C, Bocchinfuso G, Stella L, Odent S, Philip N, Faivre L, Vlckova M, Seemanova E, Digilio C, Zenker M, Zampino G, Verloes A, Dallapiccola B, Roberts AE, Cavé H, Gelb BD, Neel BG, Tartaglia M (2015). „Activating mutations affecting the Dbl homology domain of SOS2 cause Noonan syndrome”. Hum Mutat. 36 (11): 1080—7. PMC 4604019 . PMID 26173643. doi:10.1002/humu.22834. hdl:2108/118204.

worldcat.org

Miller, Bradley S. (2019). „The History of Noonan Syndrome”. Pediatric Endocrinology Reviews: PER. 16 (Suppl 2): 424—427. ISSN 1565-4753. PMID 31115193. doi:10.17458/per.vol16.2019.m.historynoonan.
Ziegler, Alban; Loundon, Natalie; Jonard, Laurence; Cavé, Hélène; Baujat, Geneviève; Gherbi, Souad; Couloigner, Vincent; Marlin, Sandrine (2017). „Noonan Syndrome: An Underestimated Cause of Severe to Profound Sensorineural Hearing Impairment. Which Clues to Suspect the Diagnosis?”. Otology & Neurotology: Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology. 38 (8): 1081—1084. ISSN 1537-4505. PMID 28742629. doi:10.1097/MAO.0000000000001509.