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Page 1
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.
Rock MJ, Prenen J, Funari VA, Funari TL, Merriman B, Nelson SF, Lachman RS, Wilcox WR, Reyno S, Quadrelli R, Vaglio A, Owsianik G, Janssens A, Voets T, Ikegawa S, Nagai T, Rimoin DL, Nilius B, Cohn DH. Rock MJ, et al. Among authors: reyno s. Nat Genet. 2008 Aug;40(8):999-1003. doi: 10.1038/ng.166. Epub 2008 Jun 29. Nat Genet. 2008. PMID: 18587396 Free PMC article.
Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita.
Zhang YH, Huang BL, Anyane-Yeboa K, Carvalho JA, Clemons RD, Cole T, De Figueiredo BC, Lubinsky M, Metzger DL, Quadrelli R, Repaske DR, Reyno S, Seaver LH, Vaglio A, Van Vliet G, McCabe LL, McCabe ER, Phelan JK. Zhang YH, et al. Among authors: reyno s. Hum Mutat. 2001 Dec;18(6):547. doi: 10.1002/humu.1236. Hum Mutat. 2001. PMID: 11748852
Van der Woude syndrome. A case report.
Vignale R, Araujo J, Pascal G, Reissenweber N, Abulafia J, Quadrelli R, Vaglio A, Larrandaburo M, Reyno S. Vignale R, et al. Among authors: reyno s. Pediatr Dermatol. 1998 Nov-Dec;15(6):459-63. doi: 10.1046/j.1525-1470.1998.1998015459.x. Pediatr Dermatol. 1998. PMID: 9875970
Response to Victor L. Schermer's Commentary.
Kinley JL, Reyno SM. Kinley JL, et al. Among authors: reyno sm. Int J Group Psychother. 2016 Apr;66(2):186-187. doi: 10.1080/00207284.2015.1106173. Epub 2016 Jan 19. Int J Group Psychother. 2016. PMID: 38449184 No abstract available.
14 results