Donnai D - Search Results

1

An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa.

Tassabehji M, Metcalfe K, Hurst J, Ashcroft GS, Kielty C, Wilmot C, Donnai D, Read AP, Jones CJ. Tassabehji M, et al. Among authors: donnai d. Hum Mol Genet. 1998 Jun;7(6):1021-8. doi: 10.1093/hmg/7.6.1021. Hum Mol Genet. 1998. PMID: 9580666

2

Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis.

Tassabehji M, Metcalfe K, Donnai D, Hurst J, Reardon W, Burch M, Read AP. Tassabehji M, et al. Among authors: donnai d. Hum Mol Genet. 1997 Jul;6(7):1029-36. doi: 10.1093/hmg/6.7.1029. Hum Mol Genet. 1997. PMID: 9215671

3

Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes.

Tassabehji M, Metcalfe K, Karmiloff-Smith A, Carette MJ, Grant J, Dennis N, Reardon W, Splitt M, Read AP, Donnai D. Tassabehji M, et al. Among authors: donnai d. Am J Hum Genet. 1999 Jan;64(1):118-25. doi: 10.1086/302214. Am J Hum Genet. 1999. PMID: 9915950 Free PMC article.

4

A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome.

Tassabehji M, Carette M, Wilmot C, Donnai D, Read AP, Metcalfe K. Tassabehji M, et al. Among authors: donnai d. Eur J Hum Genet. 1999 Oct-Nov;7(7):737-47. doi: 10.1038/sj.ejhg.5200396. Eur J Hum Genet. 1999. PMID: 10573005

5

Elastin: mutational spectrum in supravalvular aortic stenosis.

Metcalfe K, Rucka AK, Smoot L, Hofstadler G, Tuzler G, McKeown P, Siu V, Rauch A, Dean J, Dennis N, Ellis I, Reardon W, Cytrynbaum C, Osborne L, Yates JR, Read AP, Donnai D, Tassabehji M. Metcalfe K, et al. Among authors: donnai d. Eur J Hum Genet. 2000 Dec;8(12):955-63. doi: 10.1038/sj.ejhg.5200564. Eur J Hum Genet. 2000. PMID: 11175284

6

What can be offered to couples at (possibly) increased genetic risk?

Read AP, Donnai D. Read AP, et al. Among authors: donnai d. J Community Genet. 2012 Jul;3(3):167-74. doi: 10.1007/s12687-012-0105-1. Epub 2012 Jul 4. J Community Genet. 2012. PMID: 22760671 Free PMC article.

7

Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome.

Tipney HJ, Hinsley TA, Brass A, Metcalfe K, Donnai D, Tassabehji M. Tipney HJ, et al. Among authors: donnai d. Eur J Hum Genet. 2004 Jul;12(7):551-60. doi: 10.1038/sj.ejhg.5201174. Eur J Hum Genet. 2004. PMID: 15100712

8

Norrie disease resulting from a gene deletion: clinical features and DNA studies.

Donnai D, Mountford RC, Read AP. Donnai D, et al. J Med Genet. 1988 Feb;25(2):73-8. doi: 10.1136/jmg.25.2.73. J Med Genet. 1988. PMID: 3162283 Free PMC article.

9

Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome.

Tassabehji M, Strachan T, Sharland M, Colley A, Donnai D, Harris R, Thakker N. Tassabehji M, et al. Among authors: donnai d. Am J Hum Genet. 1993 Jul;53(1):90-5. Am J Hum Genet. 1993. PMID: 8317503 Free PMC article.

10

The mutational spectrum in Waardenburg syndrome.

Tassabehji M, Newton VE, Liu XZ, Brady A, Donnai D, Krajewska-Walasek M, Murday V, Norman A, Obersztyn E, Reardon W, et al. Tassabehji M, et al. Among authors: donnai d. Hum Mol Genet. 1995 Nov;4(11):2131-7. doi: 10.1093/hmg/4.11.2131. Hum Mol Genet. 1995. PMID: 8589691

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

259 results

Search Page

Filters