Schwartz CE - Search Results

1

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.

Lee YR, Khan K, Armfield-Uhas K, Srikanth S, Thompson NA, Pardo M, Yu L, Norris JW, Peng Y, Gripp KW, Aleck KA, Li C, Spence E, Choi TI, Kwon SJ, Park HM, Yu D, Heo WD, Mooney MR, Baig SM, Wentzensen IM, Telegrafi A, McWalter K, Moreland T, Roadhouse C, Ramsey K, Lyons MJ, Skinner C, Alexov E, Katsanis N, Stevenson RE, Choudhary JS, Adams DJ, Kim CH, Davis EE, Schwartz CE. Lee YR, et al. Among authors: schwartz ce. Nat Commun. 2020 Jul 23;11(1):3698. doi: 10.1038/s41467-020-17452-6. Nat Commun. 2020. PMID: 32703943 Free PMC article.

2

MRX8: an X-linked mental retardation condition with linkage to Xq21.

Schwartz CE, May M, Huang T, Ledbetter D, Anderson G, Barker DF, Lubs HA, Arena F, Stevenson RE. Schwartz CE, et al. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):467-74. doi: 10.1002/ajmg.1320430170. Am J Med Genet. 1992. PMID: 1605227

3

Allan-Herndon-Dudley syndrome: clinical and linkage studies on a second family.

Bialer MG, Lawrence L, Stevenson RE, Silverberg G, Williams MK, Arena JF, Lubs HA, Schwartz CE. Bialer MG, et al. Among authors: schwartz ce. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):491-7. doi: 10.1002/ajmg.1320430173. Am J Med Genet. 1992. PMID: 1605231

4

Deletion mapping of plasminogen activator inhibitor, type I (PLANH1) and beta-glucuronidase (GUSB) in 7q21----q22.

Schwartz CE, Stanislovitis P, Phelan MC, Klinger K, Taylor HA, Stevenson RE. Schwartz CE, et al. Cytogenet Cell Genet. 1991;56(3-4):152-3. doi: 10.1159/000133073. Cytogenet Cell Genet. 1991. PMID: 2055109

5

Allan-Herndon syndrome. I. Clinical studies.

Stevenson RE, Goodman HO, Schwartz CE, Simensen RJ, McLean WT Jr, Herndon CN. Stevenson RE, et al. Among authors: schwartz ce. Am J Hum Genet. 1990 Sep;47(3):446-53. Am J Hum Genet. 1990. PMID: 2393019 Free PMC article.

6

Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21.

Schwartz CE, Ulmer J, Brown A, Pancoast I, Goodman HO, Stevenson RE. Schwartz CE, et al. Am J Hum Genet. 1990 Sep;47(3):454-8. Am J Hum Genet. 1990. PMID: 2393020 Free PMC article.

7

Fragile X syndrome: growth, development, and intellectual function.

Prouty LA, Rogers RC, Stevenson RE, Dean JH, Palmer KK, Simensen RJ, Coston GN, Schwartz CE. Prouty LA, et al. Among authors: schwartz ce. Am J Med Genet. 1988 May-Jun;30(1-2):123-42. doi: 10.1002/ajmg.1320300111. Am J Med Genet. 1988. PMID: 3177438

8

The parental origin and mechanism of formation of three dicentric X chromosomes.

Phelan MC, Prouty LA, Stevenson RE, Howard-Peebles PN, Page DC, Schwartz CE. Phelan MC, et al. Among authors: schwartz ce. Hum Genet. 1988 Sep;80(1):81-4. doi: 10.1007/BF00451462. Hum Genet. 1988. PMID: 3417308

9

Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1.

Marinoni JC, Stevenson RE, Evans JP, Geshuri D, Phelan MC, Schwartz CE. Marinoni JC, et al. Among authors: schwartz ce. Clin Genet. 1995 Feb;47(2):90-5. doi: 10.1111/j.1399-0004.1995.tb03930.x. Clin Genet. 1995. PMID: 7606850 Review.

10

Aarskog-Scott syndrome: confirmation of linkage to the pericentromeric region of the X chromosome.

Stevenson RE, May M, Arena JF, Millar EA, Scott CI Jr, Schroer RJ, Simensen RJ, Lubs HA, Schwartz CE. Stevenson RE, et al. Among authors: schwartz ce. Am J Med Genet. 1994 Sep 1;52(3):339-45. doi: 10.1002/ajmg.1320520317. Am J Med Genet. 1994. PMID: 7810566

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