Tassabehji M - Search Results

1

A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome.

Day R, Beckett B, Donnai D, Fryer A, Heidenblad M, Howard P, Kerr B, Mansour S, Maye U, McKee S, Mohammed S, Sweeney E, Tassabehji M, de Vries BB, Clayton-Smith J. Day R, et al. Among authors: tassabehji m. Clin Genet. 2008 Nov;74(5):434-44. doi: 10.1111/j.1399-0004.2008.01087.x. Epub 2008 Sep 16. Clin Genet. 2008. PMID: 18798845

2

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.

Clayton-Smith J, O'Sullivan J, Daly S, Bhaskar S, Day R, Anderson B, Voss AK, Thomas T, Biesecker LG, Smith P, Fryer A, Chandler KE, Kerr B, Tassabehji M, Lynch SA, Krajewska-Walasek M, McKee S, Smith J, Sweeney E, Mansour S, Mohammed S, Donnai D, Black G. Clayton-Smith J, et al. Among authors: tassabehji m. Am J Hum Genet. 2011 Nov 11;89(5):675-81. doi: 10.1016/j.ajhg.2011.10.008. Am J Hum Genet. 2011. PMID: 22077973 Free PMC article.

3

Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.

Beleza-Meireles A, Hart R, Clayton-Smith J, Oliveira R, Reis CF, Venâncio M, Ramos F, Sá J, Ramos L, Cunha E, Pires LM, Carreira IM, Scholey R, Wright R, Urquhart JE, Briggs TA, Kerr B, Kingston H, Metcalfe K, Donnai D, Newman WG, Saraiva JM, Tassabehji M. Beleza-Meireles A, et al. Among authors: tassabehji m. Eur J Med Genet. 2015 Sep;58(9):455-65. doi: 10.1016/j.ejmg.2015.07.003. Epub 2015 Jul 20. Eur J Med Genet. 2015. PMID: 26206081

4

Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update.

Beleza-Meireles A, Clayton-Smith J, Saraiva JM, Tassabehji M. Beleza-Meireles A, et al. Among authors: tassabehji m. J Med Genet. 2014 Oct;51(10):635-45. doi: 10.1136/jmedgenet-2014-102476. Epub 2014 Aug 12. J Med Genet. 2014. PMID: 25118188 Review.

5

Williams-Beuren Syndrome: more or less? Segmental duplications and deletions in the Williams-Beuren syndrome region provide new insights into language development.

Tassabehji M, Donnai D. Tassabehji M, et al. Eur J Hum Genet. 2006 May;14(5):507-8. doi: 10.1038/sj.ejhg.5201597. Eur J Hum Genet. 2006. PMID: 16523213 No abstract available.

6

Mutations in PAX1 may be associated with Klippel-Feil syndrome.

McGaughran JM, Oates A, Donnai D, Read AP, Tassabehji M. McGaughran JM, et al. Among authors: tassabehji m. Eur J Hum Genet. 2003 Jun;11(6):468-74. doi: 10.1038/sj.ejhg.5200987. Eur J Hum Genet. 2003. PMID: 12774041

7

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. Hum Mol Genet. 1995 Nov;4(11):2131-7. doi: 10.1093/hmg/4.11.2131. Hum Mol Genet. 1995. PMID: 8589691

8

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: tassabehji m. Eur J Hum Genet. 2004 Jul;12(7):551-60. doi: 10.1038/sj.ejhg.5201174. Eur J Hum Genet. 2004. PMID: 15100712

9

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. Eur J Hum Genet. 1999 Oct-Nov;7(7):737-47. doi: 10.1038/sj.ejhg.5200396. Eur J Hum Genet. 1999. PMID: 10573005

10

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. Am J Hum Genet. 1993 Jul;53(1):90-5. Am J Hum Genet. 1993. PMID: 8317503 Free PMC article.

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