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Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex.
Nagata E, Kano H, Kato F, Yamaguchi R, Nakashima S, Takayama S, Kosaki R, Tonoki H, Mizuno S, Watanabe S, Yoshiura K, Kosho T, Hasegawa T, Kimizuka M, Suzuki A, Shimizu K, Ohashi H, Haga N, Numabe H, Horii E, Nagai T, Yoshihashi H, Nishimura G, Toda T, Takada S, Yokoyama S, Asahara H, Sano S, Fukami M, Ikegawa S, Ogata T. Nagata E, et al. Among authors: takayama s. Orphanet J Rare Dis. 2014 Oct 21;9:125. doi: 10.1186/s13023-014-0125-5. Orphanet J Rare Dis. 2014. PMID: 25351291 Free PMC article.
Skeletal Deformity Associated with SHOX Deficiency.
Seki A, Jinno T, Suzuki E, Takayama S, Ogata T, Fukami M. Seki A, et al. Among authors: takayama s. Clin Pediatr Endocrinol. 2014 Jul;23(3):65-72. doi: 10.1297/cpe.23.65. Epub 2014 Aug 6. Clin Pediatr Endocrinol. 2014. PMID: 25110390 Free PMC article. Review.
Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2).
Yamoto K, Saitsu H, Nishimura G, Kosaki R, Takayama S, Haga N, Tonoki H, Okumura A, Horii E, Okamoto N, Suzumura H, Ikegawa S, Kato F, Fujisawa Y, Nagata E, Takada S, Fukami M, Ogata T. Yamoto K, et al. Among authors: takayama s. Eur J Hum Genet. 2019 Dec;27(12):1845-1857. doi: 10.1038/s41431-019-0473-7. Epub 2019 Jul 22. Eur J Hum Genet. 2019. PMID: 31332306 Free PMC article.
Congenital Anomalies of the Extremities Occurring in Siblings.
Takagi T, Seki A, Mochida J, Takayama S. Takagi T, et al. Among authors: takayama s. J Hand Surg Asian Pac Vol. 2016 Feb;21(1):49-53. doi: 10.1142/S2424835516500065. J Hand Surg Asian Pac Vol. 2016. PMID: 27454502
1,474 results