Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Text availability
Article attribute
Article type
Publication date

Search Results

62 results
Filters applied: . Clear all Results are displayed in a computed author sort order. Results by year timeline is unavailable
Page 1
Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome).
Amiel J, Watkin PM, Tassabehji M, Read AP, Winter RM. Amiel J, et al. Clin Dysmorphol. 1998 Jan;7(1):17-20. Clin Dysmorphol. 1998. PMID: 9546825
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
Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2.
Tassabehji M, Read AP, Newton VE, Patton M, Gruss P, Harris R, Strachan T. Tassabehji M, et al. Nat Genet. 1993 Jan;3(1):26-30. doi: 10.1038/ng0193-26. Nat Genet. 1993. PMID: 8490648
PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse.
Tassabehji M, Newton VE, Leverton K, Turnbull K, Seemanova E, Kunze J, Sperling K, Strachan T, Read AP. Tassabehji M, et al. Hum Mol Genet. 1994 Jul;3(7):1069-74. doi: 10.1093/hmg/3.7.1069. Hum Mol Genet. 1994. PMID: 7981674
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.
Marshall CR, Young EJ, Pani AM, Freckmann ML, Lacassie Y, Howald C, Fitzgerald KK, Peippo M, Morris CA, Shane K, Priolo M, Morimoto M, Kondo I, Manguoglu E, Berker-Karauzum S, Edery P, Hobart HH, Mervis CB, Zuffardi O, Reymond A, Kaplan P, Tassabehji M, Gregg RG, Scherer SW, Osborne LR. Marshall CR, et al. Am J Hum Genet. 2008 Jul;83(1):106-11. doi: 10.1016/j.ajhg.2008.06.001. Epub 2008 Jun 19. Am J Hum Genet. 2008. PMID: 18565486 Free PMC article.
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
Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24.
Newman WG, Clayton-Smith J, Metcalfe K, Cole R, Tartaglia M, Brancati F, Morara S, Novelli A, Liu X, Siminovitch KA, Mundlos S, Tassabehji M, Black GC. Newman WG, et al. Am J Med Genet A. 2008 Dec 1;146A(23):3034-7. doi: 10.1002/ajmg.a.32564. Am J Med Genet A. 2008. PMID: 19006212
62 results
Jump to page
Feedback