Below are the most recent publications written about "Hand Deformities, Congenital" by people in Profiles.
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Barnada SM, Giner de Gracia A, Morenilla-Palao C, L?pez-Cascales MT, Scopa C, Waltrich FJ, Mikkers HMM, Cicardi ME, Karlin J, Trotti D, Peterson KA, Brugmann SA, Santen GWE, McMahon SB, Herrera E, Trizzino M. ARID1A-BAF coordinates ZIC2 genomic occupancy for epithelial-to-mesenchymal transition in cranial neural crest specification. Am J Hum Genet. 2024 Oct 03; 111(10):2232-2252.
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Wood KA, Tong RS, Motta M, Cordeddu V, Scimone ER, Bush SJ, Maxwell DW, Giannoulatou E, Caputo V, Traversa A, Mancini C, Ferrero GB, Benedicenti F, Grammatico P, Melis D, Steindl K, Brunetti-Pierri N, Trevisson E, Wilkie AO, Lin AE, Cormier-Daire V, Twigg SR, Tartaglia M, Goriely A. SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline. Am J Hum Genet. 2024 Sep 05; 111(9):1953-1969.
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Vanbelleghem E, Van Damme T, Beyens A, Symoens S, Claes K, De Backer J, Meerschaut I, Vanommeslaeghe F, Delanghe SE, van den Ende J, Beyltjens T, Scimone ER, Lindsay ME, Schimmenti LA, Hinze AM, Dunn E, Gomez-Ospina N, Vandernoot I, Delguste T, Coppens S, Cormier-Daire V, Tartaglia M, Garavelli L, Shieh J, Demir S, Arslan Ates E, Zenker M, Rohanizadegan M, Rivera-Cruz G, Douzgou S, Lin AE, Callewaert B. Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations. Eur J Hum Genet. 2024 Sep; 32(9):1086-1094.
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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. Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023). Am J Med Genet A. 2024 Oct; 194(10):e63638.
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Gourgas O, Lemire G, Eaton AJ, Alshahrani S, Duker AL, Li J, Carroll RS, Mackenzie S, Nikkel SM, Bober MB, Boycott KM, Murshed M. Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia. Nat Commun. 2023 11 03; 14(1):7054.
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Gheewalla GM, Luther J, Das S, Kreher JB, Scimone ER, Wong AW, Lindsay ME, Lin AE. An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes. Am J Med Genet A. 2022 10; 188(10):3084-3088.
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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. Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects. Am J Med Genet A. 2022 05; 188(5):1384-1395.
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Lin AE, Brunetti-Pierri N, Callewaert B, Cormier-Daire V, Douzgou S, Kinane TB, Lindsay ME, Starr LJ. Lack of resemblance between Myhre syndrome and other "segmental progeroid" syndromes warrants restraint in applying this classification. Geroscience. 2021 04; 43(2):459-461.
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Pino PA, Zlotolow DA, Kozin SH. What's New in Congenital Hand Surgery. J Pediatr Orthop. 2020 Sep; 40(8):e753-e760.
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Lin AE, Alali A, Starr LJ, Shah N, Beavis A, Pereira EM, Lindsay ME, Klugman S. Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome. Am J Med Genet A. 2020 02; 182(2):328-337.