Schwartz CE - Search Results

1

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.

Hagens O, Dubos A, Abidi F, Barbi G, Van Zutven L, Hoeltzenbein M, Tommerup N, Moraine C, Fryns JP, Chelly J, van Bokhoven H, Gécz J, Dollfus H, Ropers HH, Schwartz CE, de Cassia Stocco Dos Santos R, Kalscheuer V, Hanauer A. Hagens O, et al. Among authors: schwartz ce. Hum Genet. 2006 Jan;118(5):578-90. doi: 10.1007/s00439-005-0072-2. Epub 2005 Oct 26. Hum Genet. 2006. PMID: 16249884

2

Genotype prediction in the fragile X syndrome.

Hirst MC, Nakahori Y, Knight SJ, Schwartz C, Thibodeau SN, Roche A, Flint TJ, Connor JM, Fryns JP, Davies KE. Hirst MC, et al. J Med Genet. 1991 Dec;28(12):824-9. doi: 10.1136/jmg.28.12.824. J Med Genet. 1991. PMID: 1757957 Free PMC article.

3

Physical mapping of new DNA probes near the fragile X mutation (FRAXA) by using a panel of cell lines.

Suthers GK, Hyland VJ, Callen DF, Oberle I, Rocchi M, Thomas NS, Morris CP, Schwartz CE, Schmidt M, Ropers HH, et al. Suthers GK, et al. Among authors: schwartz ce. Am J Hum Genet. 1990 Aug;47(2):187-95. Am J Hum Genet. 1990. PMID: 2378346 Free PMC article.

4

Radiation hybrids for the proximal long arm of the X chromosome and their use in the derivation of an ordered set of cosmid markers from a defined subregion in proximal Xq13.1.

Röhme D, Sidén T, van der Maarel SM, Cremers FP, Tantravahi U, Marinoni JC, Ropers HH, Schwartz CE. Röhme D, et al. Among authors: schwartz ce. Somat Cell Mol Genet. 1994 Jan;20(1):1-10. doi: 10.1007/BF02257481. Somat Cell Mol Genet. 1994. PMID: 8197472

5

An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype.

Tarleton J, Richie R, Schwartz C, Rao K, Aylsworth AS, Lachiewicz A. Tarleton J, et al. Hum Mol Genet. 1993 Nov;2(11):1973-4. doi: 10.1093/hmg/2.11.1973. Hum Mol Genet. 1993. PMID: 8281165 No abstract available.

6

Seventh International Workshop on the Fragile X and X-linked Mental Retardation.

Tranebjaerg L, Lubs HA, Borghgraef M, Brown WT, Fisch G, Fryns JP, Hagerman R, Jacobs PA, Mandel JL, Mulley J, Oostra B, Schwartz C, Sherman S, Willard H, Willems P. Tranebjaerg L, et al. Am J Med Genet. 1996 Jul 12;64(1):1-14. doi: 10.1002/(SICI)1096-8628(19960712)64:1<1::AID-AJMG1>3.0.CO;2-Z. Am J Med Genet. 1996. PMID: 8826442 No abstract available.

7

Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation.

Plenge RM, Tranebjaerg L, Jensen PK, Schwartz C, Willard HF. Plenge RM, et al. Am J Hum Genet. 1999 Mar;64(3):759-67. doi: 10.1086/302286. Am J Hum Genet. 1999. PMID: 10053010 Free PMC article.

8

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

9

Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome.

Villard L, Bonino MC, Abidi F, Ragusa A, Belougne J, Lossi AM, Seaver L, Bonnefont JP, Romano C, Fichera M, Lacombe D, Hanauer A, Philip N, Schwartz C, Fontés M. Villard L, et al. J Med Genet. 1999 Mar;36(3):183-6. J Med Genet. 1999. PMID: 10204841 Free PMC article.

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

583 results

Search Page

Filters