1Schubbert S, Shannon K, Bollag G. (2007) Hyperactive Ras in developmental disorders and cancer. Nat Rev Cancer 7 :295-308.
2Tidyman WE, Rauen KA (2009) The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. Current Opinion in Genetics & Development 19: 230-236.
3Hirsch NP, Murphy A, Radcliffe JJ (20011) Neurofibromatosis: clinical presentations and anaesthetic implications. British journal of anaesthesia 86: 555-564.
4Schubbert S, Bollag G, Shannon K (2007) Deregulated Ras signaling in developmental disorders: new tricks for an old dog. Current Opinion in Genetics & Development 17: 15-22.
5Cawthon RM, Weiss R, Xu G, Viskochil D, Culver M, et al. (1990) A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell 62: 193-201.
6Malumbres M, Barbacid M (2003) RAS oncogenes: the first 30 years. Nature reviews Cancer 3: 459-465.
7Bentires-Alj M, Kontaridis MI, Neel BG (2006) Stops along the RAS pathway in human genetic disease. Nat Med 12: 283-285.
8Digilio MC, Lepri F, Baban A, Dentici ML, Versacci P, et al. (2011) RASopathies: Clinical Diagnosis in the First Year of Life. Molecular Syndromology 1: 282-289.
9Galiè N, Hoeper MM, Humbert M, Torbicki A, Vachiery JL, et al (2009) Guidelines for the diagnosis and treatment of pulmonary hypertension: the Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS), endorsed by the International Society of Heart and Lung Transplantation (ISHLT). European Heart Journal 30: 2493-2537.
10Humbert M, Labrune P, Sitbon O, Le Gall C, Callebert J (2002). Pulmonary arterial hypertension and type-I glycogen-storage disease: the serotonin hypothesis. Eur Respir 20: 59-65.
11Maclean MR, Dempsie Y (2010) The serotonin hypothesis of pulmonary hypertension revisited. Adv Exp Med Biol 661: 309-22.
12Reynolds RM, Browning GGP, Nawroz I, Campbell IW (2003) Von Recklinghausen's neurofibromatosis: neurofibromatosis type 1. The Lancet 361: 1552-1554.
13Scheffzek K, Ahmadian MR, Wiesmüller L, Kabsch W, Stege P, et al. (1998) Structural analysis of the GAP-related domain from neurofibromin and its implications. EMBO J 17: 4313-4327.
14Wallace MR, Marchuk DA, Andersen LB, Letcher R, Odeh HM, et al. (1990) Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF-1 patients. Science (New York, NY) 249: 181-186.
15Brems H, Pasmant E, Van Minkelen R, Wimmer K, Upadhyaya M, et al. (2012) Review and update of SPRED1 mutations causing Legius syndrome. Human mutation 33: 1538-1546.
16Montani D, Coulet F, Girerd B, Eyries M, Bergot E, et al (2011) Pulmonary hypertension in patients with neurofibromatosis type I. Medicine 90: 201-211.
17Massaro D, Katz S. (1964) Neurofibromatosis and Cystic Lung Disease. Annals of Internal Medicine 60: 735-736.
18Massaro D, Katz S. (1966) Fibrosing alveolitis: its occurrence, roentgenographic, and pathologic features in von Recklinghausen's neurofibromatosis. The American Review of Respiratory Disease 93: 934-942.
19Porterfield JK, Pyeritz RE, Traill TA (1986) Pulmonary hypertension and interstitial fibrosis in von Recklinghausen neurofibromatosis. American Journal of Medical Genetics 25: 531-535.
20Riccardi VM (1981) Cutaneous manifestation of neurofibromatosis: cellular interaction, pigmentation, and mast cells. Birth defects original article series 17: 129-145.
21Burkhalter JL, Morano JU, McCay MB (1986) Diffuse interstitial lung disease in neurofibromatosis. Southern Medical Journal 79: 944-946.
22Ryu JH, Parambil JG, McGrann PS, Aughenbaugh GL (2005) Lack of evidence for an association between neurofibromatosis and pulmonary fibrosis. Chest 128: 2381-2386.
23Samuels N, Berkman N, Milgalter E, Bar-Ziv J, Amir G,et al. (1999) Pulmonary hypertension secondary to neurofibromatosis: intimal fibrosis versus thromboembolism. Thorax 54: 858-859.
24Aoki Y, Kodama M, Mezaki T, Ogawa R, Sato M, et al. (2001) von Recklinghausen disease complicated by pulmonary hypertension. Chest 119: 1606-1608.
25Simeoni S, Puccetti A, Chilosi M, Tinazzi E, Prati D, et al. (2007) Type 1 neurofibromatosis complicated by pulmonary artery hypertension: a case report. The Journal of Medical Investigation 54: 354-358.
26Stewart DR, Cogan JD, Kramer MR, Miller WT, Jr., Christiansen LE, et al. (2007) Is pulmonary arterial hypertension in neurofibromatosis type 1 secondary to a plexogenic arteriopathy? Chest; 132: 798-808.
27Simonneau G, Robbins IM, Beghetti M, Channick RN, Delcroix M, et al. (2009) Updated Clinical Classification of Pulmonary Hypertension. Journal of the American College of Cardiology 54 :S43-S54.
28Malviya A, Mishra S, Kothari SS. (2012) Type 1 neurofibromatosis and pulmonary hypertension: a report of two cases and a review. Heart Asia 4: 27-30.
29Noonan JA. (2005) Noonan syndrome and related disorders. Progress in Pediatric Cardiology;20: 177-185.
30Digilio M, Marino B. (2001) Clinical manifestations of Noonan syndrome. Images in Paediatric Cardiology 3: 19-30.
31Noonan JA. (1994) Noonan syndrome. An update and review for the primary pediatrician. Clinical Pediatrics 33: 548-555.
32Holt S, Ryan WF, Kirkham N, Coulshed N. (1979) Noonan's syndrome and cyanotic congenital heart disease. A report of 4 cases and review of the literature. Acta cardiologica 34: 167-177.
33Tinker A, Uren N, Schofield J.( 1989) Severe pulmonary hypertension in Ullrich-Noonan syndrome. British Heart Journal 62: 74-77.
34Nava C, Hanna N, Michot C, Pereira S, Pouvreau N, et al. (2007) Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome. Journal of Medical Genetics 44: 763-771.
35Roberts A, Allanson J, Jadico SK, Kavamura MI, Noonan J, et al. (2006) The cardiofaciocutaneous syndrome. Journal of Medical Genetics 43: 833-842.
36Gorlin Rj ARCBM. (1969) Multiple lentigenes syndrome: Complex comprising multiple lentigenes, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth, sensorineural deafness, and autosomal dominant hereditary pattern. American Journal of Diseases of Children 117: 652-662.
37Peter JR, Kemp JS (1990). LEOPARD syndrome: Death because of chronic respiratory insufficiency. American Journal of Medical Genetics 37: 340-341.
38Seuanez H, Mane-Garzon F, Kolski R. (1976) Cardio-cutaneous syndrome (the "LEOPARD" syndrome). Review of the literature and a new family. Clinical Genetics 9: 266-276.
39Legius E, Schrander-Stumpel C, Schollen E, Pulles-Heintzberger C, Gewillig M, et al. (2002) PTPN11 mutations in LEOPARD syndrome. Journal of Medical Genetics 39 :571-574.
40Keren B, Hadchouel A, Saba S, Sznajer Y, Bonneau D, et al. (2004) French Collaborative Noonan Study Group. PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience. Journal of Medical Genetics 41:e117.
41Blieden LC, Schneeweiss A, Neufeld HN (1981). Primary pulmonary hypertension in LEOPARD syndrome. British Heart Journal 46: 458-460.
42Peter JR, Kemp JS (1990) LEOPARD syndrome: death because of chronic respiratory insufficiency. Am J Med Genet 37: 340-341.
43Aoki Y, Niihori T, Kawame H, Ohashi H, Tanak Y, (2005). Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nat Genet 37: 1038-1040.
44Gripp KW, Lin AE. (2012) Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations. Genet Med 14: 285-292.
45O'Shea J, Lynch SA, Macken S (2008) A case of persistent pulmonary hypertension in a newborn with Costello syndrome. Clinical Dysmorphology 17: 287-288.
46Gripp KW, Lin AE, Nicholson L, Allen W, Cramer A, et al. (2007) Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome. American Journal of Medical Genetics Part A 143A: 1472-1480.
47Brems H, Chmara M, Sahbatou M, Denayer E, Taniguchi K, et al. (2007) Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet 39: 1120-1126.
48Denayer E, Descheemaeker MJ, Stewart DR, Keymolen K, Plasschaert E, et al. (2011) Observations on intelligence and behavior in 15 patients with Legius syndrome. American Journal of Medical Genetics Part C, Seminars in medical genetics 157:123-128.
49Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, et al. (2003) Capillary Malformation Arteriovenous Malformation, a New Clinical and Genetic Disorder Caused by RASA1 Mutations. American Journal of Human Genetics 73: 1240-1249.
50Fults D, Kelly DLJ. Natural History of Arteriovenous Malformations of the Brain: A Clinical Study. Neurosurgery 1984;15(5):658-62.