المؤلفون: Bidchol AM; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India., Dalal A; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India., Trivedi R; Laboratory of Computational Biology & Bioinformatics Facility, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India; Graduate Studies, Manipal University, Manipal, Karnataka, India., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Kochi, AIMS Ponekkara, Kerala, India., Sankar VH; Genetic Clinic, Department of Pediatrics, SAT Hospital, Government Medical College, Thiruvananthapuram, Kerala, India., Danda S; Department of Clinical Genetics, Christian Medical College and Hospital, Vellore, Tamil Nadu, India., Gupta N; Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India., Kabra M; Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India., Hebbar SA; Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India., Bhat RY; Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India., Matta D; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India., Ekbote AV; Department of Clinical Genetics, Christian Medical College and Hospital, Vellore, Tamil Nadu, India., Puri RD; Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India., Phadke SR; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India., Gowrishankar K; Department of Medical Genetics, Childs Trust Medical Research Foundation, Kanchi Kamakoti Childs Trust Hospital, Chennai, Tamil Nadu, India., Aggarwal S; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India., Ranganath P; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India., Sharda S; Post Graduate Institute of Medical Education and Research, Chandigarh, Punjab, India., Kamate M; Pediatric Neurology, KLE University's J N Medical College, Belgaum, Karnataka, India., Datar CA; Rare Genetic Disorder Clinic, Sahyadri Hospital, Pune, Maharashtra, India., Bhat K; Department of Pediatrics, Kasturba Medical College, Mangalore, Manipal University, Karnataka, India., Kamath N; Department of Pediatrics, Kasturba Medical College, Mangalore, Manipal University, Karnataka, India., Shah H; Pediatric Orthopedics Services, Department of Orthopedics, Kasturba Medical College, Manipal, Manipal University, Karnataka, India., Krishna S; Strand Life Sciences Pvt Ltd, Bengaluru, Karnataka, India., Gopinath PM; Division of Biotechnology, School of Life Sciences, Manipal University, Manipal, Karnataka, India., Verma IC; Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India., Nagarajaram HA; Laboratory of Computational Biology & Bioinformatics Facility, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India., Satyamoorthy K; Division of Biotechnology, School of Life Sciences, Manipal University, Manipal, Karnataka, India., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India. Electronic address: girish.katta@manipal.edu.

المصدر: Gene [Gene] 2015 Aug 10; Vol. 567 (2), pp. 173-81. Date of Electronic Publication: 2015 Apr 30.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0038 (Electronic) Linking ISSN: 03781119 NLM ISO Abbreviation: Gene Subsets: MEDLINE

مواضيع طبية MeSH: Gangliosidosis, GM1/*genetics , beta-Galactosidase/*genetics, Child, Preschool ; DNA Mutational Analysis ; Female ; Genetic Association Studies ; Heterozygote ; Humans ; India ; Infant ; Infant, Newborn ; Male ; Models, Molecular ; Mutation, Missense ; Polymorphism, Single Nucleotide

المؤلفون: Chakrabarty S; Division of Biotechnology, Manipal Life Sciences Centre, Manipal University, Manipal 576104, Karnataka state, India. sanjiban.c@manipal.edu, D'Souza RR, Bellampalli R, Rotti H, Saadi AV, Gopinath PM, Acharya RV, Govindaraj P, Thangaraj K, Satyamoorthy K

المصدر: Gene [Gene] 2012 Jun 01; Vol. 500 (2), pp. 186-93. Date of Electronic Publication: 2012 Mar 21.

نوع المنشور: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0038 (Electronic) Linking ISSN: 03781119 NLM ISO Abbreviation: Gene Subsets: MEDLINE

مواضيع طبية MeSH: Chromosomes, Artificial, Bacterial* , Genomic Library*, Chromosome Mapping/*methods , Comparative Genomic Hybridization/*methods , DNA Copy Number Variations/*genetics , Genome, Human/*genetics, Cell Line, Transformed ; DNA Primers/genetics ; Electrophoresis, Gel, Pulsed-Field ; Genomics ; Humans ; In Situ Hybridization, Fluorescence ; India ; Male ; Polymorphism, Single Nucleotide ; Real-Time Polymerase Chain Reaction ; Reproducibility of Results ; Restriction Mapping ; Sequence Analysis, DNA