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Page 1
Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023).
Lin AE, Scimone ER, Thom RP, Balaguru D, Kinane TB, Moschovis PP, Cohen MS, Tan W, Hague CD, Dannheim K, Levitsky LL, Lilly E, DiGiacomo DV, Masse KM, Kadzielski SM, Zar-Kessler CA, Ginns LC, Neumeyer AM, Colvin MK, Elder JS, Learn CP, Mou H, Weagle KM, Buch KA, Butler WE, Alhadid K, Musolino PL, Sultana S, Bandyopadhyay D, Rapalino O, Peacock ZS, Chou EL, Heidary G, Dorfman AT, Morris SA, Bergin JD, Rayment JH, Schimmenti LA, Lindsay ME; MGH Myhre Syndrome Study Group. Lin AE, et al. Among authors: lindsay me. Am J Med Genet A. 2024 Oct;194(10):e63638. doi: 10.1002/ajmg.a.63638. Epub 2024 May 23. Am J Med Genet A. 2024. PMID: 38779990 Free PMC article.
Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.
Lin AE, Michot C, Cormier-Daire V, L'Ecuyer TJ, Matherne GP, Barnes BH, Humberson JB, Edmondson AC, Zackai E, O'Connor MJ, Kaplan JD, Ebeid MR, Krier J, Krieg E, Ghoshhajra B, Lindsay ME. Lin AE, et al. Among authors: lindsay me. Am J Med Genet A. 2016 Oct;170(10):2617-31. doi: 10.1002/ajmg.a.37739. Epub 2016 Jun 14. Am J Med Genet A. 2016. PMID: 27302097 Review.
Case 28-2019: A 22-Year-Old Woman with Dyspnea and Chest Pain.
Kremer TM, Lindsay ME, Kinane TB, Hawley MH, Little BP, Mino-Kenudson M. Kremer TM, et al. Among authors: lindsay me. N Engl J Med. 2019 Sep 12;381(11):1059-1067. doi: 10.1056/NEJMcpc1904041. N Engl J Med. 2019. PMID: 31509678 No abstract available.
Lack of resemblance between Myhre syndrome and other "segmental progeroid" syndromes warrants restraint in applying this classification.
Lin AE, Brunetti-Pierri N, Callewaert B, Cormier-Daire V, Douzgou S, Kinane TB, Lindsay ME, Starr LJ; Myhre Syndrome Foundation Professional Advisory Board. Lin AE, et al. Among authors: lindsay me. Geroscience. 2021 Apr;43(2):459-461. doi: 10.1007/s11357-021-00337-x. Epub 2021 Feb 25. Geroscience. 2021. PMID: 33630210 Free PMC article. No abstract available.
Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects.
Cappuccio G, Brunetti-Pierri N, Clift P, Learn C, Dykes JC, Mercer CL, Callewaert B, Meerschaut I, Spinelli AM, Bruno I, Gillespie MJ, Dorfman AT, Grimberg A, Lindsay ME, Lin AE. Cappuccio G, et al. Among authors: lindsay me. Am J Med Genet A. 2022 May;188(5):1384-1395. doi: 10.1002/ajmg.a.62645. Epub 2022 Jan 13. Am J Med Genet A. 2022. PMID: 35025139
Vascular smooth muscle cell phenotype switching in carotid atherosclerosis.
Chou EL, Lino Cardenas CL, Chaffin M, Arduini AD, Juric D, Stone JR, LaMuraglia GM, Eagleton MJ, Conrad MF, Isselbacher EM, Ellinor PT, Lindsay ME. Chou EL, et al. Among authors: lindsay me. JVS Vasc Sci. 2021 Dec 7;3:41-47. doi: 10.1016/j.jvssci.2021.11.002. eCollection 2022. JVS Vasc Sci. 2021. PMID: 35128489 Free PMC article.
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