Otwarty dostęp

Neurofibromatosis 1-Noonan Syndrome Associated with Pulmonary Stenosis and Hypertrophic Cardiomyopathy


Zacytuj

Friedman JM. Neurofibromatosis 1. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews® University of Washington, Seattle; 1993. FriedmanJM Neurofibromatosis 1 In: AdamMP ArdingerHH PagonRA eds. GeneReviews® University of Washington Seattle 1993 Search in Google Scholar

Le C, Bedocs PM. Neurofibromatosis. In: StatPearls Publishing; 2021. LeC BedocsPM Neurofibromatosis In: StatPearls Publishing 2021 Search in Google Scholar

Denayer E, Legius E. Neurofibromatosis Type 1-Noonan Syndrome: What's the Link? Noonan Syndrome and Related Disorders - A Matter of Deregulated Ras Signaling 2009;17:128–137. DenayerE LegiusE Neurofibromatosis Type 1-Noonan Syndrome: What's the Link? Noonan Syndrome and Related Disorders - A Matter of Deregulated Ras Signaling 2009 17 128 137 10.1159/000164849 Search in Google Scholar

Allanson JE, Hall JG, Van Allen MI. Noonan phenotype associated with neurofibromatosis. Am J Med Genet 1985;21(3):457–462. AllansonJE HallJG Van AllenMI Noonan phenotype associated with neurofibromatosis Am J Med Genet 1985 21 3 457 462 10.1002/ajmg.1320210307 Search in Google Scholar

Carey JC. Neurofibromatosis-Noonan syndrome. Am J Med Genet 1998;75(3):263–264. CareyJC Neurofibromatosis-Noonan syndrome Am J Med Genet 1998 75 3 263 264 10.1002/(SICI)1096-8628(19980123)75:3<263::AID-AJMG7>3.0.CO;2-R Search in Google Scholar

Yapijakis C, Pachis N, Natsis S, Voumvourakis C. Is Neurofibromatosis Type 1-Noonan Syndrome a Phenotypic Result of Combined Genetic and Epigenetic Factors? In Vivo 2016;30(3):315–320. YapijakisC PachisN NatsisS VoumvourakisC Is Neurofibromatosis Type 1-Noonan Syndrome a Phenotypic Result of Combined Genetic and Epigenetic Factors? In Vivo 2016 30 3 315 320 Search in Google Scholar

Bertola DR, Pereira AC, Passetti F, et al. Neurofibromatosis–Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient. American Journal of Medical Genetics Part A 2005;136A(3):242–245. BertolaDR PereiraAC PassettiF Neurofibromatosis–Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient American Journal of Medical Genetics Part A 2005 136A 3 242 245 10.1002/ajmg.a.30813 Search in Google Scholar

Nyström AM, Ekvall S, Allanson J, et al. Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1. Clin Genet 2009;76(6):524–534. NyströmAM EkvallS AllansonJ Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1 Clin Genet 2009 76 6 524 534 10.1111/j.1399-0004.2009.01233.x Search in Google Scholar

Colley A, Donnai D, Evans DG. Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis. Clin Genet 1996;49(2):59–64. ColleyA DonnaiD EvansDG Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis Clin Genet 1996 49 2 59 64 10.1111/j.1399-0004.1996.tb04328.x Search in Google Scholar

De Luca A, Bottillo I, Sarkozy A, et al. NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome. The American Journal of Human Genetics 2005;77(6):1092–1101. De LucaA BottilloI SarkozyA NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome The American Journal of Human Genetics 2005 77 6 1092 1101 10.1086/498454 Search in Google Scholar

Thiel C, Wilken M, Zenker M, et al. Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. Am J Med Genet A 2009;149A(6):1263–1267. ThielC WilkenM ZenkerM Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome Am J Med Genet A 2009 149A 6 1263 1267 10.1002/ajmg.a.32837 Search in Google Scholar

Terzi Y, Kesikli B, Serdaroglu E, et al. Absence of exon 17 c.2970-2872delAAT mutation in Turkish NF1 patients with mild phenotype. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2011;27:2113–2116. TerziY KesikliB SerdarogluE Absence of exon 17 c.2970-2872delAAT mutation in Turkish NF1 patients with mild phenotype Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2011 27 2113 2116 10.1007/s00381-011-1512-z Search in Google Scholar

Incecik F, Hergüner ÖM, Alınç Erdem S, Altunbaşak Ş. Neurofibromatosis type 1 and cardiac manifestations. Turk Kardiyol Dern Ars 2015;43(8):714–716. IncecikF HergünerÖM Alınç ErdemS AltunbaşakŞ Neurofibromatosis type 1 and cardiac manifestations Turk Kardiyol Dern Ars 2015 43 8 714 716 10.5543/tkda.2015.27557 Search in Google Scholar

Friedman JM, Arbiser J, Epstein JA, et al. Cardiovascular disease in neurofibromatosis 1: Report of the NF1 Cardiovascular Task Force. Genet Med 2002;4(3):105–111. FriedmanJM ArbiserJ EpsteinJA Cardiovascular disease in neurofibromatosis 1: Report of the NF1 Cardiovascular Task Force Genet Med 2002 4 3 105 111 10.1097/00125817-200205000-00002 Search in Google Scholar

Finley JL, Dabbs DJ. Renal vascular smooth muscle proliferation in neurofibromatosis. Hum Pathol 1988;19(1):107–110. FinleyJL DabbsDJ Renal vascular smooth muscle proliferation in neurofibromatosis Hum Pathol 1988 19 1 107 110 10.1016/S0046-8177(88)80325-3 Search in Google Scholar

Sharma JB, Gulati N, Malik S. Maternal and perinatal complications in neurofibromatosis during pregnancy. Int J Gynaecol Obstet 1991;34(3):221–227. SharmaJB GulatiN MalikS Maternal and perinatal complications in neurofibromatosis during pregnancy Int J Gynaecol Obstet 1991 34 3 221 227 10.1016/0020-7292(91)90353-7 Search in Google Scholar

Rothner AD, Moodley M, Mientkiewicz L, Erenberg F. Congenital Heart Disease In Neurofibromatosis-1 (P2.225). Neurology 2015;84(14 Supplement). RothnerAD MoodleyM MientkiewiczL ErenbergF Congenital Heart Disease In Neurofibromatosis-1 (P2.225) Neurology 2015 84 14 Supplement Search in Google Scholar

Lin AE, Birch PH, Korf BR, et al. Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1. Am J Med Genet 2000;95(2):108–117. LinAE BirchPH KorfBR Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1 Am J Med Genet 2000 95 2 108 117 10.1002/1096-8628(20001113)95:2<108::AID-AJMG4>3.0.CO;2-0 Search in Google Scholar

Tedesco M, Di salvo G, Natale F, et al. The heart in neurofibromatosis type 1: An echocardiographic study. American heart journal 2002;143:883–888. TedescoM Di salvoG NataleF The heart in neurofibromatosis type 1: An echocardiographic study American heart journal 2002 143 883 888 10.1067/mhj.2002.122121 Search in Google Scholar

Fitzpatrick AP, Emanuel RW. Familial neurofibromatosis and hypertrophic cardiomyopathy. Heart 1988;60(3):247–251. FitzpatrickAP EmanuelRW Familial neurofibromatosis and hypertrophic cardiomyopathy Heart 1988 60 3 247 251 10.1136/hrt.60.3.247 Search in Google Scholar

Jurko A, Minarik M, Minarikova E, Nagi A. Neurofibromatosis associated with hypertrophic cardiomyopathy. Saudi medical journal 2010;31:935–936. JurkoA MinarikM MinarikovaE NagiA Neurofibromatosis associated with hypertrophic cardiomyopathy Saudi medical journal 2010 31 935 936 Search in Google Scholar

Debonnaire P, De BO, De GF, Delanote J, Vandekerckhove Y, Muyldermans L. Multimodality Imaging of Cardiac Involvement in Neurofibromatosis. Journal of the American College of Cardiology 2011;57(17):e209–e209. DebonnaireP DeBO DeGF DelanoteJ VandekerckhoveY MuyldermansL Multimodality Imaging of Cardiac Involvement in Neurofibromatosis Journal of the American College of Cardiology 2011 57 17 e209 e209 10.1016/j.jacc.2010.08.651 Search in Google Scholar

Calcagni G, Limongelli G, D’Ambrosio A, et al. Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results. Int J Cardiol 2017;245:92–98. CalcagniG LimongelliG D’AmbrosioA Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results Int J Cardiol 2017 245 92 98 10.1016/j.ijcard.2017.07.068 Search in Google Scholar

Linglart L, Gelb BD. Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment. Am J Med Genet C Semin Med Genet 2020;184(1):73–80. LinglartL GelbBD Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment Am J Med Genet C Semin Med Genet 2020 184 1 73 80 10.1002/ajmg.c.31765 Search in Google Scholar

Prendiville TW, Gauvreau K, Tworog-Dube E, et al. Cardiovascular disease in Noonan syndrome. Arch Dis Child 2014;99(7):629–634. PrendivilleTW GauvreauK Tworog-DubeE Cardiovascular disease in Noonan syndrome Arch Dis Child 2014 99 7 629 634 10.1136/archdischild-2013-305047 Search in Google Scholar

Kouz K, Lissewski C, Spranger S, et al. Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. Genet Med 2016;18(12):1226–1234. KouzK LissewskiC SprangerS Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation Genet Med 2016 18 12 1226 1234 10.1038/gim.2016.3227101134 Search in Google Scholar

Colquitt JL, Noonan JA. Cardiac findings in Noonan syndrome on long-term follow-up. Congenit Heart Dis 2014;9(2):144–150. ColquittJL NoonanJA Cardiac findings in Noonan syndrome on long-term follow-up Congenit Heart Dis 2014 9 2 144 150 10.1111/chd.1210223750712 Search in Google Scholar

2020 ESC Guidelines for the management of adult congenital heart disease | European Heart Journal | Oxford Academic. 2020 ESC Guidelines for the management of adult congenital heart disease | European Heart Journal | Oxford Academic Search in Google Scholar

2018 ESC/ESH Guidelines for the management of arterial hypertension | European Heart Journal | Oxford Academic. 2018 ESC/ESH Guidelines for the management of arterial hypertension | European Heart Journal | Oxford Academic Search in Google Scholar

eISSN:
2734-6382
Język:
Angielski