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Page 1
Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.
Crow YJ, Jackson AP, Roberts E, van Beusekom E, Barth P, Corry P, Ferrie CD, Hamel BC, Jayatunga R, Karbani G, Kálmánchey R, Kelemen A, King M, Kumar R, Livingstone J, Massey R, McWilliam R, Meager A, Rittey C, Stephenson JB, Tolmie JL, Verrips A, Voit T, van Bokhoven H, Brunner HG, Woods CG. Crow YJ, et al. Among authors: massey r. Am J Hum Genet. 2000 Jul;67(1):213-21. doi: 10.1086/302955. Epub 2000 May 25. Am J Hum Genet. 2000. PMID: 10827106 Free PMC article.
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.
Crow YJ, Hayward BE, Parmar R, Robins P, Leitch A, Ali M, Black DN, van Bokhoven H, Brunner HG, Hamel BC, Corry PC, Cowan FM, Frints SG, Klepper J, Livingston JH, Lynch SA, Massey RF, Meritet JF, Michaud JL, Ponsot G, Voit T, Lebon P, Bonthron DT, Jackson AP, Barnes DE, Lindahl T. Crow YJ, et al. Among authors: massey rf. Nat Genet. 2006 Aug;38(8):917-20. doi: 10.1038/ng1845. Epub 2006 Jul 16. Nat Genet. 2006. PMID: 16845398
Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.
Robin NH, Taylor CJ, McDonald-McGinn DM, Zackai EH, Bingham P, Collins KJ, Earl D, Gill D, Granata T, Guerrini R, Katz N, Kimonis V, Lin JP, Lynch DR, Mohammed SN, Massey RF, McDonald M, Rogers RC, Splitt M, Stevens CA, Tischkowitz MD, Stoodley N, Leventer RJ, Pilz DT, Dobyns WB. Robin NH, et al. Among authors: massey rf. Am J Med Genet A. 2006 Nov 15;140(22):2416-25. doi: 10.1002/ajmg.a.31443. Am J Med Genet A. 2006. PMID: 17036343
Cardiac remodelling in patients with atrial fibrillation and obstructive sleep apnoea.
Hunt TEF, Traaen GM, Aakerøy L, Massey RJ, Bendz C, Øverland B, Akre H, Steinshamn S, Loennechen JP, Broch K, Helle-Valle T, Lie ØH, Anstensrud AK, Haugaa KH, Gullestad L, Anfinsen OG, Aakhus S. Hunt TEF, et al. Among authors: massey rj. Open Heart. 2024 Oct 30;11(2):e002718. doi: 10.1136/openhrt-2024-002718. Open Heart. 2024. PMID: 39477342 Free PMC article. Clinical Trial.
Vutrisiran in Patients with Transthyretin Amyloidosis with Cardiomyopathy.
Fontana M, Berk JL, Gillmore JD, Witteles RM, Grogan M, Drachman B, Damy T, Garcia-Pavia P, Taubel J, Solomon SD, Sheikh FH, Tahara N, González-Costello J, Tsujita K, Morbach C, Pozsonyi Z, Petrie MC, Delgado D, Van der Meer P, Jabbour A, Bondue A, Kim D, Azevedo O, Hvitfeldt Poulsen S, Yilmaz A, Jankowska EA, Algalarrondo V, Slugg A, Garg PP, Boyle KL, Yureneva E, Silliman N, Yang L, Chen J, Eraly SA, Vest J, Maurer MS; HELIOS-B Trial Investigators. Fontana M, et al. N Engl J Med. 2024 Aug 30. doi: 10.1056/NEJMoa2409134. Online ahead of print. N Engl J Med. 2024. PMID: 39213194
Precision treatment of beta-cell monogenic diabetes: a systematic review.
Naylor RN, Patel KA, Kettunen JLT, Männistö JME, Støy J, Beltrand J, Polak M; ADA/EASD PMDI; Vilsbøll T, Greeley SAW, Hattersley AT, Tuomi T. Naylor RN, et al. Commun Med (Lond). 2024 Jul 18;4(1):145. doi: 10.1038/s43856-024-00556-1. Commun Med (Lond). 2024. PMID: 39025920 Free PMC article.
541 results