M Tassabehji

Summary

Affiliation: University of Manchester
Country: UK

Publications

  1. ncbi request reprint Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene
    M Tassabehji
    University Department of Medical Genetics, St Mary s Hospital, Manchester, UK
    Nature 355:635-6. 1992
  2. ncbi request reprint An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa
    M Tassabehji
    University Department of Medical Genetics and Regional Genetics Service, St Mary s Hospital, Manchester M13 0JH, UK
    Hum Mol Genet 7:1021-8. 1998
  3. ncbi request reprint Williams-Beuren syndrome: a challenge for genotype-phenotype correlations
    M Tassabehji
    University Department of Medical Genetics, St Mary s Hospital, Manchester, UK
    Hum Mol Genet 12:R229-37. 2003
  4. ncbi request reprint Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis
    M Tassabehji
    Department of Medical Genetics, St Mary s Hospital, Manchester, UK
    Hum Mol Genet 6:1029-36. 1997
  5. ncbi request reprint A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome
    M Tassabehji
    University Department of Medical Genetics, St Mary s Hospital, Manchester, UK
    Eur J Hum Genet 7:737-47. 1999
  6. ncbi request reprint PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse
    M Tassabehji
    Department of Medical Genetics, St Mary s Hospital, Manchester, UK
    Hum Mol Genet 3:1069-74. 1994
  7. pmc Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes
    M Tassabehji
    University Department of Medical Genetics and Regional Genetics Service, St Mary s Hospital, Manchester, United Kingdom
    Am J Hum Genet 64:118-25. 1999
  8. ncbi request reprint Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2
    M Tassabehji
    University Department of Medical Genetics, St Mary s Hospital, Manchester, UK
    Nat Genet 3:26-30. 1993
  9. ncbi request reprint A de novo pathological point mutation at the 21-hydroxylase locus: implications for gene conversion in the human genome
    S Collier
    University Department of Medical Genetics, St Mary s Hospital, Manchester, UK
    Nat Genet 3:260-5. 1993
  10. ncbi request reprint The mutational spectrum in Waardenburg syndrome
    M Tassabehji
    Department of Medical Genetics, St Mary s Hospital, Manchester, UK
    Hum Mol Genet 4:2131-7. 1995

Collaborators

Detail Information

Publications22

  1. ncbi request reprint Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene
    M Tassabehji
    University Department of Medical Genetics, St Mary s Hospital, Manchester, UK
    Nature 355:635-6. 1992
    ..Thus mutations in the Pax genes are important causes of human developmental defects...
  2. ncbi request reprint An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa
    M Tassabehji
    University Department of Medical Genetics and Regional Genetics Service, St Mary s Hospital, Manchester M13 0JH, UK
    Hum Mol Genet 7:1021-8. 1998
    ..Interference with cross-linking would reduce elastic recoil in affected tissues and explain the cutis laxa phenotype...
  3. ncbi request reprint Williams-Beuren syndrome: a challenge for genotype-phenotype correlations
    M Tassabehji
    University Department of Medical Genetics, St Mary s Hospital, Manchester, UK
    Hum Mol Genet 12:R229-37. 2003
    ....
  4. ncbi request reprint Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis
    M Tassabehji
    Department of Medical Genetics, St Mary s Hospital, Manchester, UK
    Hum Mol Genet 6:1029-36. 1997
    ..Knowledge of the genomic structure will allow more extensive mutation screening in genomic DNA of patients with SVAS and other conditions...
  5. ncbi request reprint A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome
    M Tassabehji
    University Department of Medical Genetics, St Mary s Hospital, Manchester, UK
    Eur J Hum Genet 7:737-47. 1999
    ..A feature of WS is abnormal muscle fatiguability, and we suggest that haploinsufficiency of the GTF3 gene may be the cause of this...
  6. ncbi request reprint PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse
    M Tassabehji
    Department of Medical Genetics, St Mary s Hospital, Manchester, UK
    Hum Mol Genet 3:1069-74. 1994
    ....
  7. pmc Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes
    M Tassabehji
    University Department of Medical Genetics and Regional Genetics Service, St Mary s Hospital, Manchester, United Kingdom
    Am J Hum Genet 64:118-25. 1999
    ....
  8. ncbi request reprint Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2
    M Tassabehji
    University Department of Medical Genetics, St Mary s Hospital, Manchester, UK
    Nat Genet 3:26-30. 1993
    ..The latter occurs in a family with probable type 2 WS, a clinical variant usually considered not to be allelic with type 1 WS...
  9. ncbi request reprint A de novo pathological point mutation at the 21-hydroxylase locus: implications for gene conversion in the human genome
    S Collier
    University Department of Medical Genetics, St Mary s Hospital, Manchester, UK
    Nat Genet 3:260-5. 1993
    ..This putative de novo gene conversion event appears to be the first characterized in humans...
  10. ncbi request reprint The mutational spectrum in Waardenburg syndrome
    M Tassabehji
    Department of Medical Genetics, St Mary s Hospital, Manchester, UK
    Hum Mol Genet 4:2131-7. 1995
    ..The molecular pathology of MITF/microphthalmia mutations appears to be different in humans and mice, with gene dosage having more significant effects in humans than in the mouse...
  11. ncbi request reprint Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene
    M Tassabehji
    Department of Medical Genetics, St Mary s Hospital, Manchester, UK
    Nat Genet 8:251-5. 1994
    ..Here we show that affected individuals in two WS2 families have mutations affecting splice sites in the MITF gene...
  12. ncbi request reprint GTF2IRD1 regulates transcription by binding an evolutionarily conserved DNA motif 'GUCE'
    P D Thompson
    Academic Unit of Medical Genetics, The University of Manchester, St Mary s Hospital, Hathersage Road, Manchester M13 0JH, UK
    FEBS Lett 581:1233-42. 2007
    ..Definition of this site will assist in identification of other downstream targets of GTF2IRD1 and elucidation of its role in the human developmental disorder Williams-Beuren syndrome...
  13. pmc Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome
    M Tassabehji
    University Department of Medical Genetics, St Mary s Hospital, Manchester, United Kingdom
    Am J Hum Genet 53:90-5. 1993
    ..Unlike the mutations previously described in classical NF1, which show a preponderance of null alleles, the mutation in this family would be expected to result in a mutant neurofibromin product...
  14. ncbi request reprint Elastin: mutational spectrum in supravalvular aortic stenosis
    K Metcalfe
    University Department of Medical Genetics and Regional Genetics Service, St Mary s Hospital, Manchester, UK
    Eur J Hum Genet 8:955-63. 2000
    ..SVAS shows variable penetrance within families but the progressive nature of the disorder in some cases, makes identification of the molecular lesions important for future preventative treatments...
  15. ncbi request reprint Characterization of an expressible nonclassical class I HLA gene
    M A Pook
    University Department of Medical Genetics, St Mary s Hospital, Manchester, United Kingdom
    Hum Immunol 32:102-9. 1991
    ..A flanking single copy sequence probe 4 kb distant from the Ice 6.23-5.4H gene was used to generate long-range restriction mapping at the HLA-G locus...
  16. ncbi request reprint Exploring Williams-Beuren syndrome using myGrid
    R D Stevens
    Department of Computer Science, University of Manchester, Manchester, UK
    Bioinformatics 20:i303-10. 2004
    ..The management of all these data and the co-ordination of resources to manage such virtual organizations and the data surrounding them needs significant computational infra-structure support...
  17. ncbi request reprint Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene
    J Hudson
    University of Manchester, Department of Medical Genetics, Saint Mary s Hospital, U K
    Hum Mutat 9:366-7. 1997
  18. ncbi request reprint LIM-kinase deleted in Williams syndrome
    M Tassabehji
    Nat Genet 13:272-3. 1996
  19. pmc Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome
    A Karmiloff-Smith
    J Med Genet 40:136-40. 2003
  20. ncbi request reprint Mutations in PAX1 may be associated with Klippel-Feil syndrome
    J M McGaughran
    Queensland Clinical Genetics Service, Royal Children s Hospital and Health District, Herston, Brisbane 4029, Queensland, Australia
    Eur J Hum Genet 11:468-74. 2003
    ..The other variants were missense, silent or intronic changes not represented in the control panel tested. The significance of these results and the possible role of PAX1 in the pathogenesis of KFS are discussed...
  21. ncbi request reprint Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome)
    J Amiel
    Unité de Recherces sur les Handicaps Génétiques de l Enfant INSERM U 393, Service de Génétique Médicale and Clinique Chirurgicale Infantile, Hopital des Enfants Malades, Paris, France
    Clin Dysmorphol 7:17-20. 1998
    ..These data, together with the wide spectrum of mutant alleles reported in mi mice (which have pigmentary disorders), suggest that MITF could be regarded as a candidate gene in various pigmentation disorders in man...
  22. ncbi request reprint Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages
    S J Smith
    University Department of Medicine, Manchester Royal Infirmary, Manchester, United Kingdom
    J Bone Miner Res 14:730-9. 1999
    ....