S K Murthy

Summary

Affiliation: Primary Health Care
Country: UAE

Publications

  1. ncbi Incidence of Down syndrome in Dubai, UAE
    Sabita K Murthy
    Department of Genetics, Al Wasl Hospital, Department of Health and Medical Services, Dubai, UAE
    Med Princ Pract 16:25-8. 2007
  2. ncbi Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment
    S K Murthy
    Genetics Department, Al Wasl Hospital, DOHMS, Dubai, UAE
    Cytogenet Genome Res 116:135-40. 2007
  3. ncbi Analphoid supernumerary marker chromosome characterized by aCGH and FISH as inv dup(3)(q25.33qter) de novo in a child with dysmorphic features and streaky pigmentation: case report
    Sabita K Murthy
    Genetics Center, Department of Health and Medical Services, DHA, Dubai, UAE
    Mol Cytogenet 1:19. 2008
  4. ncbi Fluorescence in situ hybridization of LCM-isolated nuclei from paraffin sections
    Douglas J Demetrick
    Calgary Laboratory Services, Departments of Pathology, Oncology, and Medical Biochemistry, University of Calgary, Calgary, Alberta T2N 1N4, Canada
    Methods Enzymol 356:63-9. 2002
  5. ncbi Loss of heterozygosity associated with uniparental disomy in breast carcinoma
    Sabita K Murthy
    Department of Pathology and Laboratory Medicine, The University of Calgary, Alberta, Canada
    Mod Pathol 15:1241-50. 2002
  6. ncbi The retinal rod and cone Na+/Ca2+-K+ exchangers
    Clemens F M Prinsen
    Departments of Biophysics and Physiology, Faculty of Medicine, University of Calgary, Calgary, Alberta, Canada
    Adv Exp Med Biol 514:237-51. 2002
  7. ncbi Copy number analysis of c-erb-B2 (HER-2/neu) and topoisomerase IIalpha genes in breast carcinoma by quantitative real-time polymerase chain reaction using hybridization probes and fluorescence in situ hybridization
    Sabita K Murthy
    Department of Pathology, The University of Calgary, Alberta, Canada
    Arch Pathol Lab Med 129:39-46. 2005
  8. ncbi Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis
    Mohammed Naveed
    Center for Arab Genomic Studies (CAGS, Dubai, United Arab Emirates
    Am J Med Genet A 140:1440-6. 2006
  9. ncbi New approaches to fluorescence in situ hybridization
    Sabita K Murthy
    Medical Genetics, Al Wasl Hospital, Dubai, United Arab Emirates
    Methods Mol Biol 319:237-59. 2006

Collaborators

  • SWAPAN NATH
  • S E Antonarakis
  • Douglas J Demetrick
  • Mohammed Naveed
  • Clemens F M Prinsen
  • Armand Bottani
  • Mahmoud T Al-Ali
  • Samuel Deutsch
  • Sarah Al-Hajali
  • Najib Al-Khaja
  • Uppala Radhakrishna
  • Conan B Cooper
  • Lisa M DiFrancesco
  • Paul P M Schnetkamp
  • Robert T Szerencsei

Detail Information

Publications9

  1. ncbi Incidence of Down syndrome in Dubai, UAE
    Sabita K Murthy
    Department of Genetics, Al Wasl Hospital, Department of Health and Medical Services, Dubai, UAE
    Med Princ Pract 16:25-8. 2007
    ..To describe incidence of Down syndrome in Dubai, United Arab Emirates (UAE)...
  2. ncbi Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment
    S K Murthy
    Genetics Department, Al Wasl Hospital, DOHMS, Dubai, UAE
    Cytogenet Genome Res 116:135-40. 2007
    ..The study however further strengthens the fact that genome-wide analysis by array CGH in individuals with developmental delay and mental retardation is very useful in detecting such hidden interstitial chromosomal rearrangements...
  3. ncbi Analphoid supernumerary marker chromosome characterized by aCGH and FISH as inv dup(3)(q25.33qter) de novo in a child with dysmorphic features and streaky pigmentation: case report
    Sabita K Murthy
    Genetics Center, Department of Health and Medical Services, DHA, Dubai, UAE
    Mol Cytogenet 1:19. 2008
    ..Analphoid sSMC are even rarer. To our knowledge only eight cases of analphoid inversion-duplication 3q sSMC are reported so far...
  4. ncbi Fluorescence in situ hybridization of LCM-isolated nuclei from paraffin sections
    Douglas J Demetrick
    Calgary Laboratory Services, Departments of Pathology, Oncology, and Medical Biochemistry, University of Calgary, Calgary, Alberta T2N 1N4, Canada
    Methods Enzymol 356:63-9. 2002
  5. ncbi Loss of heterozygosity associated with uniparental disomy in breast carcinoma
    Sabita K Murthy
    Department of Pathology and Laboratory Medicine, The University of Calgary, Alberta, Canada
    Mod Pathol 15:1241-50. 2002
    ....
  6. ncbi The retinal rod and cone Na+/Ca2+-K+ exchangers
    Clemens F M Prinsen
    Departments of Biophysics and Physiology, Faculty of Medicine, University of Calgary, Calgary, Alberta, Canada
    Adv Exp Med Biol 514:237-51. 2002
    ....
  7. ncbi Copy number analysis of c-erb-B2 (HER-2/neu) and topoisomerase IIalpha genes in breast carcinoma by quantitative real-time polymerase chain reaction using hybridization probes and fluorescence in situ hybridization
    Sabita K Murthy
    Department of Pathology, The University of Calgary, Alberta, Canada
    Arch Pathol Lab Med 129:39-46. 2005
    ....
  8. ncbi Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis
    Mohammed Naveed
    Center for Arab Genomic Studies (CAGS, Dubai, United Arab Emirates
    Am J Med Genet A 140:1440-6. 2006
    ..1. Two-point linkage and haplotype analyses did not show the involvement of the above regions in this family...
  9. ncbi New approaches to fluorescence in situ hybridization
    Sabita K Murthy
    Medical Genetics, Al Wasl Hospital, Dubai, United Arab Emirates
    Methods Mol Biol 319:237-59. 2006
    ..We present a brief overview of FISH technology and describe in detail methods of probe labeling and detection for different types of tissue sample, including microdissected nuclei from formalin-fixed paraffin-embedded tissue sections...