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De novo unbalanced translocations have a complex history/aetiology.
Bonaglia MC, Kurtas NE, Errichiello E, Bertuzzo S, Beri S, Mehrjouy MM, Provenzano A, Vergani D, Pecile V, Novara F, Reho P, Di Giacomo MC, Discepoli G, Giorda R, Aldred MA, Santos-Rebouças CB, Goncalves AP, Abuelo DN, Giglio S, Ricca I, Franchi F, Patsalis P, Sismani C, Morí MA, Nevado J, Tommerup N, Zuffardi O. Bonaglia MC, et al. Among authors: aldred ma. Hum Genet. 2018 Oct;137(10):817-829. doi: 10.1007/s00439-018-1941-9. Epub 2018 Oct 1. Hum Genet. 2018. PMID: 30276538 Clinical Trial.
Heterogeneity analysis in 40 X-linked retinitis pigmentosa families.
Teague PW, Aldred MA, Jay M, Dempster M, Harrison C, Carothers AD, Hardwick LJ, Evans HJ, Strain L, Brock DJ, et al. Teague PW, et al. Among authors: aldred ma. Am J Hum Genet. 1994 Jul;55(1):105-11. Am J Hum Genet. 1994. PMID: 8023838 Free PMC article.
The EUROGEM map of human chromosome X.
Aldred MA, Flint T, Vossen R, Wakefield K, Ferguson-Smith MA, Lush M, Rubinsztein D, Kruse T, Loizedda A, Bakker B, et al. Aldred MA, et al. Eur J Hum Genet. 1994;2(3):248-9. Eur J Hum Genet. 1994. PMID: 7834303 No abstract available.
LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections.
Guo DC, Regalado ES, Pinard A, Chen J, Lee K, Rigelsky C, Zilberberg L, Hostetler EM, Aldred M, Wallace SE, Prakash SK; University of Washington Center for Mendelian Genomics; Leal SM, Bamshad MJ, Nickerson DA, Natowicz M, Rifkin DB, Milewicz DM. Guo DC, et al. Am J Hum Genet. 2018 Apr 5;102(4):706-712. doi: 10.1016/j.ajhg.2018.03.002. Am J Hum Genet. 2018. PMID: 29625025 Free PMC article.
Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.
Zhou XP, Woodford-Richens K, Lehtonen R, Kurose K, Aldred M, Hampel H, Launonen V, Virta S, Pilarski R, Salovaara R, Bodmer WF, Conrad BA, Dunlop M, Hodgson SV, Iwama T, Järvinen H, Kellokumpu I, Kim JC, Leggett B, Markie D, Mecklin JP, Neale K, Phillips R, Piris J, Rozen P, Houlston RS, Aaltonen LA, Tomlinson IP, Eng C. Zhou XP, et al. Am J Hum Genet. 2001 Oct;69(4):704-11. doi: 10.1086/323703. Epub 2001 Aug 30. Am J Hum Genet. 2001. PMID: 11536076 Free PMC article.
The EUROGEM map of human chromosome 18.
Aldred MA, Wakefield K, Evans HJ, Wright AF. Aldred MA, et al. Eur J Hum Genet. 1994;2(3):238-9. Eur J Hum Genet. 1994. PMID: 7834298 No abstract available.
102 results