Schwartz CE - Search Results

1

Redefining the Etiologic Landscape of Cerebellar Malformations.

Aldinger KA, Timms AE, Thomson Z, Mirzaa GM, Bennett JT, Rosenberg AB, Roco CM, Hirano M, Abidi F, Haldipur P, Cheng CV, Collins S, Park K, Zeiger J, Overmann LM, Alkuraya FS, Biesecker LG, Braddock SR, Cathey S, Cho MT, Chung BHY, Everman DB, Zarate YA, Jones JR, Schwartz CE, Goldstein A, Hopkin RJ, Krantz ID, Ladda RL, Leppig KA, McGillivray BC, Sell S, Wusik K, Gleeson JG, Nickerson DA, Bamshad MJ, Gerrelli D, Lisgo SN, Seelig G, Ishak GE, Barkovich AJ, Curry CJ, Glass IA, Millen KJ, Doherty D, Dobyns WB. Aldinger KA, et al. Among authors: schwartz ce. Am J Hum Genet. 2019 Sep 5;105(3):606-615. doi: 10.1016/j.ajhg.2019.07.019. Epub 2019 Aug 29. Am J Hum Genet. 2019. PMID: 31474318 Free PMC article.

2

Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome.

Suthers GK, Mulley JC, Voelckel MA, Dahl N, Väisänen ML, Steinbach P, Glass IA, Schwartz CE, van Oost BA, Thibodeau SN, et al. Suthers GK, et al. Among authors: schwartz ce. Am J Hum Genet. 1991 Mar;48(3):460-7. Am J Hum Genet. 1991. PMID: 1671806 Free PMC article.

3

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.

4

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.

5

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. Am J Hum Genet. 1988 Nov;43(5):597-604. Am J Hum Genet. 1988. PMID: 2903661 Free PMC article.

6

Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS).

Abidi F, Jacquot S, Lassiter C, Trivier E, Hanauer A, Schwartz CE. Abidi F, et al. Among authors: schwartz ce. Eur J Hum Genet. 1999 Jan;7(1):20-6. doi: 10.1038/sj.ejhg.5200231. Eur J Hum Genet. 1999. PMID: 10094187

7

X-linked mental retardation with variable stature, head circumference, and testicular volume linked to Xq12-q21.

Abidi F, Hall BD, Cadle RG, Feldman GL, Lubs HA, Ouzts LV, Arena JF, Stevenson RE, Schwartz CE. Abidi F, et al. Among authors: schwartz ce. Am J Med Genet. 1999 Jul 30;85(3):223-9. doi: 10.1002/(sici)1096-8628(19990730)85:3<223::aid-ajmg8>3.0.co;2-r. Am J Med Genet. 1999. PMID: 10398233

8

A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25.

Cabezas DA, Slaugh R, Abidi F, Arena JF, Stevenson RE, Schwartz CE, Lubs HA. Cabezas DA, et al. Among authors: schwartz ce. J Med Genet. 2000 Sep;37(9):663-8. doi: 10.1136/jmg.37.9.663. J Med Genet. 2000. PMID: 10978355 Free PMC article.

9

Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation.

Friez MJ, Essop FB, Krause A, Castiglia L, Ragusa A, Sossey-Alaoui K, Nelson RL, May MM, Michaelis RC, Srivastava AK, Schwartz CE, Stevenson RE, Goldman A, Villard L, Longshore JW. Friez MJ, et al. Among authors: schwartz ce. Hum Genet. 2000 Jan;106(1):36-9. doi: 10.1007/s004390051006. Hum Genet. 2000. PMID: 10982179

10

Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome.

Stevenson RE, Abidi F, Schwartz CE, Lubs HA, Holmes LB. Stevenson RE, et al. Among authors: schwartz ce. Am J Med Genet. 2000 Oct 23;94(5):383-5. doi: 10.1002/1096-8628(20001023)94:5<383::aid-ajmg7>3.0.co;2-7. Am J Med Genet. 2000. PMID: 11050622 No abstract available.

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