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161 results

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Page 1
Ritscher-Schinzel (3C) syndrome: documentation of the phenotype.
Kosaki K, Curry CJ, Roeder E, Jones KL. Kosaki K, et al. Among authors: curry cj. Am J Med Genet. 1997 Feb 11;68(4):421-7. doi: 10.1002/(sici)1096-8628(19970211)68:4<421::aid-ajmg10>3.0.co;2-u. Am J Med Genet. 1997. PMID: 9021015 Review.
Neonatal phenotype in Kabuki syndrome.
Vaux KK, Hudgins L, Bird LM, Roeder E, Curry CJ, Jones M, Jones KL. Vaux KK, et al. Among authors: curry cj. Am J Med Genet A. 2005 Jan 30;132A(3):244-7. doi: 10.1002/ajmg.a.30336. Am J Med Genet A. 2005. PMID: 15690369
Photographic documentation of syndrome diagnosis.
Allanson J, Hunter A, Cassidy S, Curry C, Donnai D, Fraser C, Gorlin R, Graham J, Hall B, Hall J, Jones KL, Stevenson R, Winter R. Allanson J, et al. Am J Med Genet. 1997 Feb 11;68(4):487-8. doi: 10.1002/(sici)1096-8628(19970211)68:4<487::aid-ajmg25>3.0.co;2-n. Am J Med Genet. 1997. PMID: 9021028 No abstract available.
Expansion of the phenotype of Kosaki overgrowth syndrome.
Minatogawa M, Takenouchi T, Tsuyusaki Y, Iwasaki F, Uehara T, Kurosawa K, Kosaki K, Curry CJ. Minatogawa M, et al. Among authors: curry cj. Am J Med Genet A. 2017 Sep;173(9):2422-2427. doi: 10.1002/ajmg.a.38310. Epub 2017 Jun 22. Am J Med Genet A. 2017. PMID: 28639748
Trisomy 12 mosaicism confirmed in multiple organs from a liveborn child.
DeLozier-Blanchet CD, Roeder E, Denis-Arrue R, Blouin JL, Low J, Fisher J, Scharnhorst D, Curry CJ. DeLozier-Blanchet CD, et al. Among authors: curry cj. Am J Med Genet. 2000 Dec 18;95(5):444-9. doi: 10.1002/1096-8628(20001218)95:5<444::aid-ajmg7>3.0.co;2-x. Am J Med Genet. 2000. PMID: 11146464
A dyadic approach to the delineation of diagnostic entities in clinical genomics.
Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, Giampietro PF, Girisha KM, Glass IA, Graham JM Jr, Gripp KW, Haldeman-Englert CR, Hall BD, Innes AM, Kalish JM, Keppler-Noreuil KM, Kosaki K, Kozel BA, Mirzaa GM, Mulvihill JJ, Nowaczyk MJM, Pagon RA, Retterer K, Rope AF, Sanchez-Lara PA, Seaver LH, Shieh JT, Slavotinek AM, Sobering AK, Stevens CA, Stevenson DA, Tan TY, Tan WH, Tsai AC, Weaver DD, Williams MS, Zackai E, Zarate YA. Biesecker LG, et al. Am J Hum Genet. 2021 Jan 7;108(1):8-15. doi: 10.1016/j.ajhg.2020.11.013. Am J Hum Genet. 2021. PMID: 33417889 Free PMC article. Review.
Response to Hamosh et al.
Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, Giampietro PF, Girisha KM, Glass IA, Graham JM Jr, Gripp KW, Haldeman-Englert CR, Hall BD, Innes AM, Kalish JM, Keppler-Noreuil KM, Kosaki K, Kozel BA, Mirzaa GM, Mulvihill JJ, Nowaczyk MJM, Pagon RA, Retterer K, Rope AF, Sanchez-Lara PA, Seaver LH, Shieh JT, Slavotinek AM, Sobering AK, Stevens CA, Stevenson DA, Tan TY, Tan WH, Tsai AC, Weaver DD, Williams MS, Zackai E, Zarate YA. Biesecker LG, et al. Am J Hum Genet. 2021 Sep 2;108(9):1809-1810. doi: 10.1016/j.ajhg.2021.07.006. Am J Hum Genet. 2021. PMID: 34478656 Free PMC article. No abstract available.
161 results