Chudley AE - Search Results

1

Interstitial 4p deletion in a child with an Angelman syndrome-like phenotype.

Innes AM, Chudley AE, Carson NL, Dawson AJ. Innes AM, et al. Among authors: chudley ae. Clin Genet. 1999 Sep;56(3):238-41. doi: 10.1034/j.1399-0004.1999.560311.x. Clin Genet. 1999. PMID: 10563486 No abstract available.

2

Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome.

Lugenbeel KA, Peier AM, Carson NL, Chudley AE, Nelson DL. Lugenbeel KA, et al. Among authors: chudley ae. Nat Genet. 1995 Aug;10(4):483-5. doi: 10.1038/ng0895-483. Nat Genet. 1995. PMID: 7670500

3

Frequency of FMR1 premutations in a consecutive newborn population by PCR screening of Guthrie blood spots.

Dawson AJ, Chodirker BN, Chudley AE. Dawson AJ, et al. Among authors: chudley ae. Biochem Mol Med. 1995 Oct;56(1):63-9. doi: 10.1006/bmme.1995.1057. Biochem Mol Med. 1995. PMID: 8593539

4

Der(22)t(11;22) resulting from a paternal de novo translocation, adjacent 1 segregation, and maternal heterodisomy of chromosome 22.

Dawson AJ, Mears AJ, Chudley AE, Bech-Hansen T, McDermid H. Dawson AJ, et al. Among authors: chudley ae. J Med Genet. 1996 Nov;33(11):952-6. doi: 10.1136/jmg.33.11.952. J Med Genet. 1996. PMID: 8950677 Free PMC article.

5

Proximal interstitial 6q deletion: a recognizable syndrome.

Kumar R, Riordan D, Dawson AJ, Chudley AE. Kumar R, et al. Among authors: chudley ae. Am J Med Genet. 1997 Aug 22;71(3):353-6. Am J Med Genet. 1997. PMID: 9268108 Review.

6

Familial transmission of a small supernumerary marker chromosome 8 identified by FISH: an update.

Rothenmund H, Chudley AE, Dawson AJ. Rothenmund H, et al. Among authors: chudley ae. Am J Med Genet. 1997 Oct 31;72(3):339-42. doi: 10.1002/(sici)1096-8628(19971031)72:3<339::aid-ajmg17>3.0.co;2-u. Am J Med Genet. 1997. PMID: 9332666 Review.

7

Low MSAFP levels and Williams syndrome.

Chodirker BN, Greenberg CR, Giddins NG, Dawson AJ, Evans JA, Chudley AE. Chodirker BN, et al. Among authors: chudley ae. Am J Med Genet. 1997 Nov 12;72(4):448-50. doi: 10.1002/(sici)1096-8628(19971112)72:4<448::aid-ajmg14>3.0.co;2-r. Am J Med Genet. 1997. PMID: 9375729

8

Transmission of the FRAXA haplotype from three nonpenetrant brothers to their affected grandsons: an update with AGG interspersion analysis.

Mogk RL, Carson NL, Chudley AE, Dawson AJ. Mogk RL, et al. Among authors: chudley ae. Am J Med Genet. 1998 Jan 6;75(1):28-34. Am J Med Genet. 1998. PMID: 9450853

9

Vertical transmission of the Ohdo blepharophimosis syndrome.

Mhanni AA, Dawson AJ, Chudley AE. Mhanni AA, et al. Among authors: chudley ae. Am J Med Genet. 1998 May 1;77(2):144-8. Am J Med Genet. 1998. PMID: 9605288 Review.

10

Functional mosaic trisomy of 1q12-->1q21 resulting from X-autosome insertion translocation with random inactivation.

Vust A, Riordan D, Wickstrom D, Chudley AE, Dawson AJ. Vust A, et al. Among authors: chudley ae. Clin Genet. 1998 Jul;54(1):70-3. doi: 10.1111/j.1399-0004.1998.tb03697.x. Clin Genet. 1998. PMID: 9727744

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

247 results

Search Page

Filters