Which statements describe characteristics of the partial-inheritance system in new england?

  • Alfieri P, Cumbo F, Serra G, Trasolini M, Frattini C, Scibelli F, Licchelli S, Cirillo F, Caciolo C, Casini MP, D'Amico A, Tartaglia M, Digilio MC, Capolino R, Vicari S. Manic and depressive symptoms in children diagnosed with Noonan syndrome. Brain Sci. 2021;11:233. [PMC free article: PMC7918671] [PubMed: 33668418]

  • Al-Kouatly HB, Makhamreh MM, Rice SM, Smith K, Harman C, Quinn A, Valcarcel BN, Firman B, Liu R, Hegde M, Critchlow E, Berger SI. High diagnosis rate for nonimmune hydrops fetalis with prenatal clinical exome from the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study. Genet Med. 2021;23:1325–33. [PubMed: 33686258]

  • 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. Genotype and phenotype spectrum of NRAS germline variants. Eur J Hum Genet. 2017;25:823–31. [PMC free article: PMC5520077] [PubMed: 28594414]

  • Andelfinger G, Marquis C, Raboisson MJ, Théoret Y, Waldmüller S, Wiegand G, Gelb BD, Zenker M, Delrue MA, Hofbeck M. Hypertrophic cardiomyopathy in Noonan syndrome treated by MEK-inhibition. J Am Coll Cardiol. 2019;73:2237–9. [PMC free article: PMC6916648] [PubMed: 31047013]

  • Aoki Y, Niihori T, Banjo T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T, Barnett C, Ohashi H, Kawame H, Hasegawa T, Okutani T, Nagashima T, Hasegawa S, Funayama R, Nagashima T, Nakayama K, Inoue S, Watanabe Y, Ogura T, Matsubara Y. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. Am J Hum Genet. 2013;93:173–80. [PMC free article: PMC3710767] [PubMed: 23791108]

  • Aoki Y, Niihori T, Inoue SI, Matsubara Y. Recent advances in RASopathies. J Hum Genet. 2016;61:33–9. [PubMed: 26446362]

  • Armour CM, Allanson JE. Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations. J Med Genet. 2008;45:249–54. [PubMed: 18039946]

  • Beneteau C, Cavé H, Moncla A, Dorison N, Munnich A, Verloes A, Leheup B. SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions. Eur J Hum Genet. 2009;17:1216–21. [PMC free article: PMC2986637] [PubMed: 19352411]

  • Bentires-Alj M, Paez JG, David FS, Keilhack H, Halmos B, Naoki K, Maris JM, Richardson A, Bardelli A, Sugarbaker DJ, Richards WG, Du J, Girard L, Minna JD, Loh ML, Fisher DE, Velculescu VE, Vogelstein B, Meyerson M, Sellers WR, Neel BG. Activating mutations of the Noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia. Cancer Res. 2004;64:8816–20. [PubMed: 15604238]

  • Berger AH, Imielinski M, Duke F, Wala J, Kaplan N, Shi GX, Andres DA, Meyerson M. Oncogenic RIT1 mutations in lung adenocarcinoma. Oncogene. 2014;33:4418–23. [PMC free article: PMC4150988] [PubMed: 24469055]

  • Bertola DR, Pereira AC, Passetti F, de Oliveira PS, Messiaen L, Gelb BD, Kim CA, Krieger JE. Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. Am J Med Genet A. 2005;136:242–5. [PubMed: 15948193]

  • Bertola DR, Yamamoto GL, Almeida TF, Buscarilli M, Jorge AA, Malaquias AC, Kim CA, Takahashi VN, Passos-Bueno MR, Pereira AC. Further evidence of the importance of RIT1 in Noonan syndrome. Am J Med Genet A. 2014;164A:2952–7. [PubMed: 25124994]

  • Brasil AS, Pereira AC, Wanderley LT, Kim CA, Malaquias AC, Jorge AA, Krieger JE, Bertola DR. PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes. Genet Test Mol Biomarkers. 2010;14:425–32. [PubMed: 20578946]

  • Briggs BJ, Dickerman JD. Bleeding disorders in Noonan syndrome. Pediatr Blood Cancer. 2012;58:167–72. [PubMed: 22012616]

  • Briggs B, Savla D, Ramchandar N, Dimmock D, Le D, Thornburg CD. The evaluation of hematologic screening and perioperative management in patients with Noonan syndrome: a retrospective chart review. J Pediatr. 2020;220:154–8.e6. [PubMed: 32111381]

  • Capri Y, Flex E, Krumbach OHF, Carpentieri G, Cecchetti S, Lißewski C, Rezaei Adariani S, Schanze D, Brinkmann J, Piard J, Pantaleoni F, Lepri FR, Goh ES, Chong K, Stieglitz E, Meyer J, Kuechler A, Bramswig NC, Sacharow S, Strullu M, Vial Y, Vignal C, Kensah G, Cuturilo G, Kazemein Jasemi NS, Dvorsky R, Monaghan KG, Vincent LM, Cavé H, Verloes A, Ahmadian MR, Tartaglia M, Zenker M. Activating mutations in RRAS2 are a rare cause of Noonan syndrome. Am J Hum Genet. 2019;104:1223–32. [PMC free article: PMC6562003] [PubMed: 31130282]

  • Chen JL, Zhu X, Zhao TL, Wang J, Yang YF, Tan ZP. Rare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11. Mol Cytogenet. 2014a;7:28. [PMC free article: PMC4031927] [PubMed: 24739123]

  • 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. Next-generation sequencing identifies rare variants associated with Noonan syndrome. Proc Natl Acad Sci U S A. 2014b;111:11473–8. [PMC free article: PMC4128129] [PubMed: 25049390]

  • Cirstea IC, Kutsche K, Dvorsky R, Gremer L, Carta C, Horn D, Roberts AE, Lepri F, Merbitz-Zahradnik T, König R, Kratz CP, Pantaleoni F, Dentici ML, Joshi VA, Kucherlapati RS, Mazzanti L, Mundlos S, Patton MA, Silengo MC, Rossi C, Zampino G, Digilio C, Stuppia L, Seemanova E, Pennacchio LA, Gelb BD, Dallapiccola B, Wittinghofer A, Ahmadian MR, Tartaglia M, Zenker M. A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet. 2010;42:27–9. [PMC free article: PMC3118669] [PubMed: 19966803]

  • Colley A, Donnai D, Evans DG. Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis. Clin Genet. 1996;49:59–64. [PubMed: 8740913]

  • Cordeddu V, Di Schiavi E, Pennacchio LA, Ma'ayan A, Sarkozy A, Fodale V, Cecchetti S, Cardinale A, Martin J, Schackwitz W, Lipzen A, Zampino G, Mazzanti L, Digilio MC, Martinelli S, Flex E, Lepri F, Bartholdi D, Kutsche K, Ferrero GB, Anichini C, Selicorni A, Rossi C, Tenconi R, Zenker M, Merlo D, Dallapiccola B, Iyengar R, Bazzicalupo P, Gelb BD, Tartaglia M. Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nat Genet. 2009;41:1022–6. [PMC free article: PMC2765465] [PubMed: 19684605]

  • 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. Activating mutations affecting the Dbl homology domain of SOS2 cause Noonan syndrome. Hum Mutat. 2015;36:1080–7. [PMC free article: PMC4604019] [PubMed: 26173643]

  • Denayer E, Devriendt K, de Ravel T, Van Buggenhout G, Smeets E, Francois I, Sznajer Y, Craen M, Leventopoulos G, Mutesa L, Vandecasseye W, Massa G, Kayserili H, Sciot R, Fryns JP, Legius E. Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. Genes Chromosomes Cancer. 2010;49:242–52. [PubMed: 19953625]

  • Derbent M, Oncel Y, Tokel K, Varan B, Haberal A, Yazici AC, Legius E, Ozbek N. Clinical and hematological findings in Noonan syndrome patients with PTPN11 mutations. Am J Med Genet. 2010;152A:2768–74. [PubMed: 20954246]

  • Dori Y, Smith C, Pinto E, Snyder K, March ME, Hakonarson H, Belasco J. Severe lymphatic disorder resolved with MEK inhibition in a patient with Noonan syndrome and SOS1 mutation. Pediatrics. 2020;146:e20200167. [PubMed: 33219052]

  • Ejarque I, Millán-Salvador JM, Oltra S, Pesudo-Martínez JV, Beneyto M, Pérez-Aytés A. Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway. Rev Neurol. 2015;60:408–12. [PubMed: 25912702]

  • Estep AL, Palmer C, McCormick F, Rauen KA. Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy. PLoS One. 2007;2:e1279. [PMC free article: PMC2093994] [PubMed: 18060073]

  • 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. Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis. Hum Mol Genet. 2014;23:4315–27. [PMC free article: PMC4103678] [PubMed: 24705357]

  • Fowlkes JL, Thrailkill KM, Bunn RC. RASopathies: The musculoskeletal consequences and their etiology and pathogenesis. Bone. 2021;152:116060. [PMC free article: PMC8316423] [PubMed: 34144233]

  • Garren B, Stephan M, Hogue JS. NRAS associated RASopathy and embryonal rhabdomyosarcoma. Am J Med Genet A. 2020;182:195–200. [PubMed: 31697451]

  • Gelb BD, Newburger JW, Roberts AE, Williams RG. In memoriam: Jaqueline A Noonan. J Am Coll Cardiol. 2020;76:1498–500.

  • Gelb BD, Roberts AE, Tartaglia M. Cardiomyopathies in Noonan syndrome and the other RASopathies. Prog Pediatr Cardiol. 2015;39:13–19. [PMC free article: PMC4568836] [PubMed: 26380542]

  • Graham JM Jr, Kramer N, Bejjani BA, Thiel CT, Carta C, Neri G, Tartaglia M, Zenker M. Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome. Am J Med Genet. 2009;149A:2122–8. [PMC free article: PMC2768228] [PubMed: 19760651]

  • Grant AR, Cushman BJ, Cavé H, Dillon MW, Gelb BD, Gripp KW, Lee JA, Mason-Suares H, Rauen KA, Tartaglia M, Vincent LM, Zenker M. Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework. Hum Mutat. 2018;39:1485–93. [PMC free article: PMC6326381] [PubMed: 30311384]

  • Gripp KW, Aldinger KA, Bennett JT, Baker L, Tusi J, Powell-Hamilton N, Stabley D, Sol-Church K, Timms AE, Dobyns WB. A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. Am J Med Genet A. 2016;170:2237–47. [PMC free article: PMC5134331] [PubMed: 27264673]

  • Guerin A, So J, Mireskandari K, Jougeh-Doust S, Chisholm C, Klatt R, Richer J. Expanding the clinical spectrum of ocular anomalies in Noonan syndrome: Axenfeld-anomaly in a child with PTPN11 mutation. Am J Med Genet A. 2015;167A:403–6. [PubMed: 25425531]

  • Hasle H. Malignant diseases in Noonan syndrome and related disorders. Horm Res. 2009;72:8–14. [PubMed: 20029231]

  • Hastings R, Newbury-Ecob R, Ng A, Taylor R. A further patient with Noonan syndrome due to a SOS1 mutation and rhabdomyosarcoma. Genes Chromosomes Cancer. 2010;49:967–8. [PubMed: 20607846]

  • Hickey EJ, Mehta R, Elmi M, Asoh K, McCrindle BW, Williams WG, Manlhiot C, Benson L. Survival implications: hypertrophic cardiomyopathy in Noonan syndrome. Congenit Heart Dis. 2011;6:41–7. [PubMed: 21269411]

  • Higgins EM, Bos JM, Mason-Suares H, Tester DJ, Ackerman JP, MacRae CA, Sol-Church K, Gripp KW, Urrutia R, Ackerman MJ. Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy. JCI Insight. 2017;2:e91225. [PMC free article: PMC5333962] [PubMed: 28289718]

  • Hopper RK, Feinstein JA, Manning MA, Benitz W, Hudgins L. Neonatal pulmonary arterial hypertension and Noonan syndrome: two fatal cases with a specific RAF1 mutation. Am J Med Genet A. 2015;167A:882–5. [PubMed: 25706034]

  • Huckstadt V, Chinton J, Gomez A, Obregon MG, Gravina LP. Noonan syndrome with loose anagen hair with variants in the PPP1CB gene: First familial case reported. Am J Med Genet A. 2021;185:1256–60. [PubMed: 33491856]

  • Jafarov T, Ferimazova N, Reichenberger E. Noonan-like syndrome mutations in PTPN11 in patients diagnosed with cherubism. Clin Genet. 2005;68:190–1. [PubMed: 15996221]

  • Jenkins J, Barnes A, Birnbaum B, Papagiannis J, Thiffault I, Saunders CJ. LZTR1-related hypertrophic cardiomyopathy without typical Noonan syndrome features. Circ Genom Precis Med. 2020;13:e002690. [PubMed: 32004086]

  • Johnston JJ, van der Smagt JJ, Rosenfeld JA, Pagnamenta AT, Alswaid A, Baker EH, Blair E, Borck G, Brinkmann J, Craigen W, Dung VC, Emrick L, Everman DB, van Gassen KL, Gulsuner S, Harr MH, Jain M, Kuechler A, Leppig KA, McDonald-McGinn DM, Can NTB, Peleg A, Roeder ER, Rogers RC, Sagi-Dain L, Sapp JC, Schäffer AA, Schanze D, Stewart H, Taylor JC, Verbeek NE, Walkiewicz MA, Zackai EH, Zweier C, Zenker M, Lee B, Biesecker LG, et al. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. Genet Med. 2018;20:1175–85. [PMC free article: PMC6105555] [PubMed: 29469822]

  • Jongmans M, Otten B, Noordam K, van der Burgt I. Genetics and variation in phenotype in Noonan syndrome. Horm Res. 2004;62 Suppl 3:56–9. [PubMed: 15539800]

  • Jongmans MC, Hoogerbrugge PM, Hilkens L, Flucke U, van der Burgt I, Noordam K, Ruiterkamp-Versteeg M, Yntema HG, Nillesen WM, Ligtenberg MJ, van Kessel AG, Kuiper RP, Hoogerbrugge N. Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma. Genes Chromosomes Cancer. 2010;49:635–41. [PubMed: 20461756]

  • Jongmans MC, van der Burgt I, Hoogerbrugge PM, Noordam K, Yntema HG, Nillesen WM, Kuiper RP, Ligtenberg MJ, van Kessel AG, van Krieken JH, Kiemeney LA, Hoogerbrugge N. Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. Eur J Hum Genet. 2011;19:870–4. [PMC free article: PMC3172922] [PubMed: 21407260]

  • Jónsson H, Sulem P, Kehr B, Kristmundsdottir S, Zink F, Hjartarson E, Hardarson MT, Hjorleifsson KE, Eggertsson HP, Gudjonsson SA, Ward LD, Arnadottir GA, Helgason EA, Helgason H, Gylfason A, Jonasdottir A, Jonasdottir A, Rafnar T, Frigge M, Stacey SN, Th Magnusson O, Thorsteinsdottir U, Masson G, Kong A, Halldorsson BV, Helgason A, Gudbjartsson DF, Stefansson K. Parental influence on human germline de novo mutations in 1,548 trios from Iceland. Nature. 2017;549:519–22. [PubMed: 28959963]

  • Jung A, Bechthold S, Pfluger T, Renner C, Ehrt O. Orbital rhabdomyosarcoma in Noonan syndrome. J Pediatr Hematol Oncol. 2003;25:330–2. [PubMed: 12679651]

  • Keh YS, Abernethy L, Pettorini B. Association between Noonan syndrome and Chiari I malformation: a case-based update. Childs Nerv Syst. 2013;29:749–52. [PubMed: 23239255]

  • Khan S, McDowell H, Upadhyaya M, Fryer A. Vaginal rhabdomyosarcoma in a patient with Noonan syndrome. J Med Genet. 1995;32:743–5. [PMC free article: PMC1051679] [PubMed: 8544198]

  • Kratz CP, Franke L, Peters H, Kohlschmidt N, Kazmierczak B, Finckh U, Bier A, Eichhorn B, Blank C, Kraus C, Kohlhase J, Pauli S, Wildhardt G, Kutsche K, Auber B, Christmann A, Bachmann N, Mitter D, Cremer FW, Mayer K, Daumer-Haas C, Nevinny-Stickel-Hinzpeter C, Oeffner F, Schlüter G, Gencik M, Überlacker B, Lissewski C, Schanze I, Greene MH, Spix C, Zenker M. Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes. Br J Cancer. 2015;112:1392–7. [PMC free article: PMC4402457] [PubMed: 25742478]

  • Kratz CP, Zampino G, Kriek M, Kant SG, Leoni C, Pantaleoni F, Oudesluys-Murphy AM, Di Rocco C, Kloska SP, Tartaglia M, Zenker M. Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations. Am J Med Genet A. 2009;149A:1036–40. [PubMed: 19396835]

  • Lee A, Sakhalkar MV. Ocular manifestations of Noonan syndrome in twin siblings: a case report of keratoconus with acute corneal hydrops. Indian J Ophthalmol. 2014;62:1171–3. [PMC free article: PMC4313503] [PubMed: 25579364]

  • Lee DA, Portnoy S, Hill P, Gillberg C, Patton MA. Psychological profile of children with Noonan syndrome. Dev Med Child Neurol. 2005a;47:35–8. [PubMed: 15686287]

  • Lee PA, Ross JL, Pedersen BT, Kotnik P, Germak JA, Christesen HT. Noonan syndrome and Turner syndrome patients respond similarly to 4 years' growth-hormone therapy: longitudinal analysis of growth-hormone-naïve patients enrolled in the NordiNet® International Outcome Study and the ANSWER Program. Int J Pediatr Endocrinol. 2015;2015:17. [PMC free article: PMC4562101] [PubMed: 26351466]

  • Lee WH, Raas-Rotschild A, Miteva MA, Bolasco G, Rein A, Gillis D, Vidaud D, Vidaud M, Villoutreix BO, Parfait B. Noonan syndrome type I with PTPN11 3 bp deletion: structure-function implications. Proteins. 2005b;58:7–13. [PubMed: 15521065]

  • Linglart L, Gelb BD. Congenital heart defects in Noonan syndrome: diagnosis, management, and treatment. Am J Med Genet C Semin Med Genet. 2020;184:73–80. [PMC free article: PMC7682536] [PubMed: 32022400]

  • Lissewski C, Kant SG, Stark Z, Schanze I, Zenker M. Copy number variants including RAS pathway genes-how much RASopathy is in the phenotype? Am J Med Genet A. 2015;167A:2685–90. [PubMed: 25974318]

  • Lissewski C, Chune V, Pantaleoni F, De Luca A, Capri Y, Brinkmann J, Lepri F, Daniele P, Leenders E, Mazzanti L, Scarano E, Radio FC, Kutsche K, Kuechler A, Gérard M, Ranguin K, Legendre M, Vial Y, van der Burgt I, Rinne T, Andreucci E, Mastromoro G, Digilio MC, Cave H, Tartaglia M, Zenker M. Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications. Eur J Hum Genet. 2021;29:51–60. [PMC free article: PMC7852574] [PubMed: 32788663]

  • Lodi M, Boccuto L, Carai A, Cacchione A, Miele E, Colafati GS, Diomedi Camassei F, De Palma L, De Benedictis A, Ferretti E, Catanzaro G, Pò A, De Luca A, Rinelli M, Lepri FR, Agolini E, Tartaglia M, Locatelli F, Mastronuzzi A. Low-grade gliomas in patients with Noonan syndrome: case-based review of the literature. Diagnostics (Basel). 2020;10:582. [PMC free article: PMC7460327] [PubMed: 32806529]

  • Luo C, Yang YF, Yin BL, Chen JL, Huang C, Zhang WZ, Wang J, Zhang H, Yang JF, Tan ZP. Microduplication of 3p25.2 encompassing RAF1 associated with congenital heart disease suggestive of Noonan syndrome. Am J Med Genet A. 2012;158A:1918–23. [PubMed: 22786616]

  • Marks JL, Gong Y, Chitale D, Golas B, McLellan MD, Kasai Y, Ding L, Mardis ER, Wilson RK, Solit D, Levine R, Michel K, Thomas RK, Rusch VW, Ladanyi M, Pao W. Novel MEK1 mutation identified by mutational analysis of epidermal growth factor receptor signaling pathway genes in lung adenocarcinoma. Cancer Res. 2008;68:5524–8. [PMC free article: PMC2586155] [PubMed: 18632602]

  • Martinelli S, De Luca A, Stellacci E, Rossi C, Checquolo S, Lepri F, Caputo V, Silvano M, Buscherini F, Consoli F, Ferrara G, Digilio MC, Cavaliere ML, van Hagen JM, Zampino G, van der Burgt I, Ferrero GB, Mazzanti L, Screpanti I, Yntema HG, Nillesen WM, Savarirayan R, Zenker M, Dallapiccola B, Gelb BD, Tartaglia M. Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. Am J Hum Genet. 2010;87:250–7. [PMC free article: PMC2917705] [PubMed: 20619386]

  • Martinelli S, Stellacci E, Pannone L, D'Agostino D, Consoli F, Lissewski C, Silvano M, Cencelli G, Lepri F, Maitz S, Pauli S, Rauch A, Zampino G, Selicorni A, Melançon S, Digilio MC, Gelb BD, De Luca A, Dallapiccola B, Zenker M, Tartaglia M. Molecular diversity and associated phenotypic spectrum of germline CBL mutations. Hum Mutat. 2015;36:787–96. [PubMed: 25952305]

  • Mason-Suares H, Toledo D, Gekas J, Lafferty KA, Meeks N, Pacheco MC, Sharpe D, Mullen TE, Lebo MS. Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome. Eur J Hum Genet. 2017;25:509–11. [PMC free article: PMC5386422] [PubMed: 28098151]

  • McFarlane J, Knight T, Sinha A, Cole T, Kiely N, Freeman R. Exostoses, enchondromatosis and metachondromatosis; diagnosis and management. Acta Orthop Belg. 2016;82:102–5. [PubMed: 26984661]

  • Miri O, Bonnet N, Lysy P, Loucheur N, Gayito R, Docquier PL. Multifocal pigmented villonodular synovitis in the Noonan syndrome. Case Rep Orthop. 2018;2018:7698052. [PMC free article: PMC6305014] [PubMed: 30631623]

  • Mitsuhara T, Yamaguchi S, Takeda M, Kurisu K. Gowers' intrasyringeal hemorrhage associated with Chiari type I malformation in Noonan syndrome. Surg Neurol Int. 2014;5:6. [PMC free article: PMC3927095] [PubMed: 24575321]

  • Moniez S, Pienkowski C, Lepage B, Hamdi S, Daudin M, Oliver I, Jouret B, Cartault A, Diene G, Verloes A, Cavé H, Salles JP, Tauber M, Yart A, Edouard T. Noonan syndrome males display Sertoli cell-specific primary testicular insufficiency. Eur J Endocrinol. 2018;179:409–18. [PubMed: 30325180]

  • Moschovi M, Touliatou V, Papadopoulou A, Mayakou MA, Nikolaidou-Karpathiou P, Kitsiou-Tzeli S. Rhabdomyosarcoma in a patient with Noonan syndrome phenotype and review of the literature. J Pediatr Hematol Oncol. 2007;29:341–4. [PubMed: 17483716]

  • Motta M, Fidan M, Bellacchio E, Pantaleoni F, Schneider-Heieck K, Coppola S, Borck G, Salviati L, Zenker M, Cirstea IC, Tartaglia M. Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling. Hum Mol Genet. 2019;28:1007–22. [PubMed: 30481304]

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