المؤلفون: Jacob P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Bhavani GSL; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Shah H; Department of Orthopaedics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Galada C; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Nampoothiri S; Department of Paediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Kochi, India., Kamath N; Department of Paediatrics, Kasturba Medical College, Mangalore, Manipal Academy of Higher Education, Mangalore, India., Phadke SR; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India., Muranjan M; Genetic Clinic, KEM Hospital, Mumbai, India., Datar CA; Sahyadri Medical Genetics & Tissue Engineering Facility, KEM Hospital, Pune, India., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Mar; Vol. 188 (3), pp. 751-759. Date of Electronic Publication: 2021 Nov 09.

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

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Achondroplasia*/diagnosis , Achondroplasia*/genetics, Cartilage Oligomeric Matrix Protein/genetics ; Extracellular Matrix Proteins/genetics ; Genotype ; Humans ; Matrilin Proteins/genetics ; Mutation ; Phenotype

SCR Disease Name: Pseudoachondroplasia

المؤلفون: Agrawal N; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India., Verma G; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India., Saxena D; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India., Kabra M; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India., Gupta N; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India., Mandal K; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India., Moirangthem A; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India., Sheth J; FRIGE's Institute of Human Genetics, Ahmedabad, Gujarat, India., Puri RD; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India., Bijarnia-Mahay S; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India., Kapoor S; Division of Genetics & Metabolism Department of Pediatrics, Lok Nayak Hospital and Maulana Azad Medical College, New Delhi, India., Danda S; Department of Clinical Genetics, Christian Medical College, Vellore, Tamil Nadu, India., H SV; Department of Pediatrics, SAT Hospital, Government Medical College, Thiruvananthapuram, Kerala, India., Datar CA; Genetics & Metabolics Unit, Department of Pediatrics, Bharati Hospital & Research Center, Pune, India., Ranganath P; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Dalal A; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India., Srivastava P; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India., Devi RR; Sandor Life Sciences & Rainbow Children Hospital, Perinatal Centre for Women and Children, Hyderabad, India., Phadke SR; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India. Electronic address: shubharaophadke@gmail.com.

المصدر: European journal of medical genetics [Eur J Med Genet] 2022 Mar; Vol. 65 (3), pp. 104447. Date of Electronic Publication: 2022 Feb 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Iduronate Sulfatase*/genetics , Mucopolysaccharidosis II*/diagnosis , Mucopolysaccharidosis II*/genetics, Asian People ; Genotype ; Humans ; Mutation ; Phenotype

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