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455 results

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Page 1
Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications.
Mansoorshahi S, Yetman AT, Bissell MM, Kim YY, Michelena HI, De Backer J, Mosquera LM, Hui DS, Caffarelli A, Andreassi MG, Foffa I, Guo D, Citro R, De Marco M, Tretter JT, Morris SA, Body SC, Chong JX, Bamshad MJ; University of Washington Center for Rare Disease Research; BAVCon Investigators; EBAV Investigators; Milewicz DM, Prakash SK. Mansoorshahi S, et al. Among authors: de backer j. Am J Hum Genet. 2024 Oct 3;111(10):2219-2231. doi: 10.1016/j.ajhg.2024.08.001. Epub 2024 Sep 2. Am J Hum Genet. 2024. PMID: 39226896
Mitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium.
Asokan KL, Landes JR, Renders W, Muiño Mosquera L, De Backer J, Jantzen DW, Yetman AT, Teixido-Tura G, Evangelista A, Jeremy R, Jones EG, Morris S, Doan T, Ouzonian M, Braverman A, Jondeau G, Milleron O, Milewicz DM, Prakash SK; Montalcino Aortic Consortium *. Asokan KL, et al. Among authors: de backer j. J Am Heart Assoc. 2024 Nov 5;13(21):e036274. doi: 10.1161/JAHA.124.036274. Epub 2024 Oct 18. J Am Heart Assoc. 2024. PMID: 39424426 Free article.
Contribution of rare chromosome 22q11.2 copy number variants to non-syndromic bicuspid aortic valve.
DiGregorio H, Mansoorshahi S, Carlisle SG, Tovar Pensa C, Watts A, McNeely C, Sabate-Rotes A, Yetman A, Michelena HI, De Backer JFA, Mosquera LM, Bissell MM, Andreassi MG, Foffa I, Hui DS, Caffarelli A, Kim YY, Citro R, De Marco M, Tretter JT, McBride KL, Body SC, Milewicz DM, Prakash SK; EBAV Investigators. DiGregorio H, et al. Among authors: de backer jfa. Heart. 2024 Dec 10:heartjnl-2024-324669. doi: 10.1136/heartjnl-2024-324669. Online ahead of print. Heart. 2024. PMID: 39658198
Atenolol versus losartan in children and young adults with Marfan's syndrome.
Lacro RV, Dietz HC, Sleeper LA, Yetman AT, Bradley TJ, Colan SD, Pearson GD, Selamet Tierney ES, Levine JC, Atz AM, Benson DW, Braverman AC, Chen S, De Backer J, Gelb BD, Grossfeld PD, Klein GL, Lai WW, Liou A, Loeys BL, Markham LW, Olson AK, Paridon SM, Pemberton VL, Pierpont ME, Pyeritz RE, Radojewski E, Roman MJ, Sharkey AM, Stylianou MP, Wechsler SB, Young LT, Mahony L; Pediatric Heart Network Investigators. Lacro RV, et al. Among authors: de backer j. N Engl J Med. 2014 Nov 27;371(22):2061-71. doi: 10.1056/NEJMoa1404731. Epub 2014 Nov 18. N Engl J Med. 2014. PMID: 25405392 Free PMC article. Clinical Trial.
ClinGen--the Clinical Genome Resource.
Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS; ClinGen. Rehm HL, et al. N Engl J Med. 2015 Jun 4;372(23):2235-42. doi: 10.1056/NEJMsr1406261. Epub 2015 May 27. N Engl J Med. 2015. PMID: 26014595 Free PMC article.
Health-Related Quality of Life in Children and Young Adults with Marfan Syndrome.
Handisides JC, Hollenbeck-Pringle D, Uzark K, Trachtenberg FL, Pemberton VL, Atz TW, Bradley TJ, Cappella E, De Nobele S, Groh GK, Hamstra MS, Korsin R, Levine JC, Lindauer B, Liou A, Neal MKM, Markham LW, Morrison T, Mussatto KA, Olson AK, Pierpont MEM, Pyeritz RE, Radojewski EA, Roman MJ, Xu M, Lacro RV; Pediatric Heart Network Investigators. Handisides JC, et al. J Pediatr. 2019 Jan;204:250-255.e1. doi: 10.1016/j.jpeds.2018.08.061. Epub 2018 Sep 27. J Pediatr. 2019. PMID: 30270167 Free PMC article. Clinical Trial.
Aortic and arterial manifestations and clinical features in TGFB3-related heritable thoracic aortic disease: results from the Montalcino Aortic Consortium.
Lim MS, Guo DC, Velasco Torrez W, Lai A, Schweber J, Garg N, Fleischer J, Boileau C, De Backer J, Evangelista A, Jondeau G, Le Goff C, Milleron O, Muiño-Mosquera L, Morris S, Ouzounian M, Cervi E, Marcadier J, Caffarelli A, Shalhub S, Pyeritz R, Yetman A, Milewicz D, Braverman AC. Lim MS, et al. Among authors: de backer j. J Med Genet. 2024 Dec 9:jmg-2024-110251. doi: 10.1136/jmg-2024-110251. Online ahead of print. J Med Genet. 2024. PMID: 39653386
New insights into the structural role of EMILINs within the human skin microenvironment.
Schiavinato A, Marcous F, Zuk AV, Keene DR, Tufa SF, Mosquera LM, Zigrino P, Mauch C, Eckes B, Francois K, De Backer J, Hunzelmann N, Moinzadeh P, Krieg T, Callewaert B, Sengle G. Schiavinato A, et al. Among authors: de backer j. Sci Rep. 2024 Dec 5;14(1):30345. doi: 10.1038/s41598-024-81509-5. Sci Rep. 2024. PMID: 39639116 Free PMC article.
455 results