Carey JC - Search Results

1

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, Fryer A, Gibson K, Giovannucci Uzielli ML, Graham JM Jr, Hall JG, Hecht JT, Heidenreich RA, Hurst JA, Irani S, Krapels IP, Leroy JG, Mowat D, Plant GT, Robertson SP, Schorry EK, Scott RH, Seaver LH, Sherr E, Splitt M, Stewart H, Stumpel C, Temel SG, Weaver DD, Whiteford M, Williams MS, Tabor HK, Smith JD, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics; Bamshad MJ. McMillin MJ, et al. Among authors: carey jc. Am J Hum Genet. 2014 May 1;94(5):734-44. doi: 10.1016/j.ajhg.2014.03.015. Epub 2014 Apr 10. Am J Hum Genet. 2014. PMID: 24726473 Free PMC article.

2

Diagnosis of neurofibromatosis I by using tightly linked, flanking DNA markers.

Ward K, O'Connell P, Carey JC, Leppert M, Jolley S, Plaetke R, Ogden B, White R. Ward K, et al. Among authors: carey jc. Am J Hum Genet. 1990 May;46(5):943-9. Am J Hum Genet. 1990. PMID: 1971145 Free PMC article.

3

Paternal origin of new mutations in von Recklinghausen neurofibromatosis.

Jadayel D, Fain P, Upadhyaya M, Ponder MA, Huson SM, Carey J, Fryer A, Mathew CG, Barker DF, Ponder BA. Jadayel D, et al. Nature. 1990 Feb 8;343(6258):558-9. doi: 10.1038/343558a0. Nature. 1990. PMID: 2105472

4

Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome.

Schwartz CE, Johnson JP, Holycross B, Mandeville TM, Sears TS, Graul EA, Carey JC, Schroer RJ, Phelan MC, Szollar J, et al. Schwartz CE, et al. Among authors: carey jc. Am J Hum Genet. 1988 Nov;43(5):597-604. Am J Hum Genet. 1988. PMID: 2903661 Free PMC article.

5

Prenatal diagnosis of distal arthrogryposis.

Baty BJ, Cubberley D, Morris C, Carey J. Baty BJ, et al. Am J Med Genet. 1988 Mar;29(3):501-10. doi: 10.1002/ajmg.1320290305. Am J Med Genet. 1988. PMID: 3287922 Review.

6

Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality.

Curry CJ, Carey JC, Holland JS, Chopra D, Fineman R, Golabi M, Sherman S, Pagon RA, Allanson J, Shulman S, et al. Curry CJ, et al. Among authors: carey jc. Am J Med Genet. 1987 Jan;26(1):45-57. doi: 10.1002/ajmg.1320260110. Am J Med Genet. 1987. PMID: 3812577

7

Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients.

Lowery MC, Morris CA, Ewart A, Brothman LJ, Zhu XL, Leonard CO, Carey JC, Keating M, Brothman AR. Lowery MC, et al. Among authors: carey jc. Am J Hum Genet. 1995 Jul;57(1):49-53. Am J Hum Genet. 1995. PMID: 7611295 Free PMC article.

8

Familial total anomalous pulmonary venous return: a large Utah-Idaho family.

Bleyl S, Ruttenberg HD, Carey JC, Ward K. Bleyl S, et al. Among authors: carey jc. Am J Med Genet. 1994 Oct 1;52(4):462-6. doi: 10.1002/ajmg.1320520412. Am J Med Genet. 1994. PMID: 7747759

9

A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9.

Bamshad M, Watkins WS, Zenger RK, Bohnsack JF, Carey JC, Otterud B, Krakowiak PA, Robertson M, Jorde LB. Bamshad M, et al. Among authors: carey jc. Am J Hum Genet. 1994 Dec;55(6):1153-8. Am J Hum Genet. 1994. PMID: 7977374 Free PMC article.

10

Radiological features in Brachmann-de Lange syndrome.

Braddock SR, Lachman RS, Stoppenhagen CC, Carey JC, Ireland M, Moeschler JB, Cunniff C, Graham JM Jr. Braddock SR, et al. Among authors: carey jc. Am J Med Genet. 1993 Nov 15;47(7):1006-13. doi: 10.1002/ajmg.1320470714. Am J Med Genet. 1993. PMID: 8291513 Review.

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