Donnai D - Search Results

1

A complete physical contig and partial transcript map of the Williams syndrome critical region.

Hockenhull EL, Carette MJ, Metcalfe K, Donnai D, Read AP, Tassabehji M. Hockenhull EL, et al. Among authors: donnai d. Genomics. 1999 Jun 1;58(2):138-45. doi: 10.1006/geno.1999.5815. Genomics. 1999. PMID: 10366445

2

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.

3

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

4

GTF2IRD1 in craniofacial development of humans and mice.

Tassabehji M, Hammond P, Karmiloff-Smith A, Thompson P, Thorgeirsson SS, Durkin ME, Popescu NC, Hutton T, Metcalfe K, Rucka A, Stewart H, Read AP, Maconochie M, Donnai D. Tassabehji M, et al. Among authors: donnai d. Science. 2005 Nov 18;310(5751):1184-7. doi: 10.1126/science.1116142. Epub 2005 Nov 3. Science. 2005. PMID: 16293761

5

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

6

Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6.

Metcalfe K, Simeonov E, Beckett W, Donnai D, Tassabehji M. Metcalfe K, et al. Among authors: donnai d. Clin Dysmorphol. 2005 Apr;14(2):61-65. Clin Dysmorphol. 2005. PMID: 15770126

7

LIM-kinase deleted in Williams syndrome.

Tassabehji M, Metcalfe K, Fergusson WD, Carette MJ, Dore JK, Donnai D, Read AP, Pröschel C, Gutowski NJ, Mao X, Sheer D. Tassabehji M, et al. Among authors: donnai d. Nat Genet. 1996 Jul;13(3):272-3. doi: 10.1038/ng0796-272. Nat Genet. 1996. PMID: 8673124 No abstract available.

8

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

9

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

10

Monozygotic twinning and Wiedemann-Beckwith syndrome.

Clayton-Smith J, Read AP, Donnai D. Clayton-Smith J, et al. Among authors: donnai d. Am J Med Genet. 1992 Feb 15;42(4):633-7. doi: 10.1002/ajmg.1320420440. Am J Med Genet. 1992. PMID: 1609846

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