المؤلفون: Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India., Bidchol AM; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India., Graul-Neumann L; Ambulantes Gesundheitszentrum der Charité, Campus Virchow, Humangenetik, Universitätsmedizin Berlin, Berlin, Germany., Gupta A; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India., Hehr U; Center for and Department of Human Genetics, University of Regensburg, Regensburg, Germany., Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany., Nader S; Kinderorthopädie, Schön Klinik Vogtareuth, Prien am Chiemsee, Germany., Shah H; Pediatric Orthopedic Services, Department of Orthopedics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India., Wickert J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany., Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany. kkutsche@uke.de.

المصدر: BMC medical genetics [BMC Med Genet] 2016 Apr 06; Vol. 17, pp. 27. Date of Electronic Publication: 2016 Apr 06.

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

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Heterogeneity* , Genotype* , Phenotype*, Adult ; Alleles ; Child ; Child, Preschool ; Exons ; Female ; Filamins/genetics ; Humans ; Male ; Osteochondrodysplasias/genetics ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Sequence Analysis, DNA ; Sequence Deletion

SCR Disease Name: Larsen Syndrome

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: Tuteja M; Departments of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh; and *Kasturba Medical College, Manipal University, Manipal, India. Correspondence to: Dr Shubha R Phadke, Professor and Head, Department of Medical Genetics, SGPGIMS, Lucknow 226 014. shubharaophadke@gmail.com., Bidchol AM, Girisha KM, Phadke S

المصدر: Indian pediatrics [Indian Pediatr] 2015 Feb; Vol. 52 (2), pp. 155-6.

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

بيانات الدورية: Publisher: Indian Pediatrics Country of Publication: India NLM ID: 2985062R Publication Model: Print Cited Medium: Internet ISSN: 0974-7559 (Electronic) Linking ISSN: 00196061 NLM ISO Abbreviation: Indian Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: Gangliosidosis, GM1/*pathology , White Matter/*pathology, Child, Preschool ; Humans ; Magnetic Resonance Imaging ; Male

المؤلفون: Bidchol AM; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India., Dalal A, Shah H, S S, Nampoothiri S, Kabra M, Gupta N, Danda S, Gowrishankar K, Phadke SR, Kapoor S, Kamate M, Verma IC, Puri RD, Sankar VH, Devi AR, Patil SJ, Ranganath P, Jain SJ, Agarwal M, Singh A, Mishra P, Tamhankar PM, Gopinath PM, Nagarajaram HA, Satyamoorthy K, Girisha KM

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2014 Nov; Vol. 164A (11), pp. 2793-801. Date of Electronic Publication: 2014 Sep 22.

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: Mutation*, Chondroitinsulfatases/*genetics , Mucopolysaccharidosis IV/*genetics , White People/*genetics, Adolescent ; Adult ; Alleles ; Amino Acid Substitution ; Child ; Child, Preschool ; Chondroitinsulfatases/metabolism ; Computational Biology ; DNA Mutational Analysis ; Enzyme Activation ; Female ; Gene Frequency ; Gene Order ; Humans ; India ; Infant ; Male ; Mucopolysaccharidosis IV/diagnosis ; Polymorphism, Single Nucleotide ; Pregnancy ; Prenatal Diagnosis ; Young Adult

المؤلفون: Girisha KM; Division of Medical Genetics, Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, India., Bidchol AM, Kamath PS, Shah KH, Mortier GR, Mundlos S, Shah H

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2014 Apr; Vol. 164A (4), pp. 898-906. Date of Electronic Publication: 2014 Jan 29.

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: Enhancer Elements, Genetic* , Mutation*, Limb Deformities, Congenital/*genetics , Membrane Proteins/*genetics , Werner Syndrome/*genetics, Adult ; Child ; Extremities ; Female ; Humans ; Infant ; Male ; Middle Aged ; Pedigree ; Phenotype

المؤلفون: Girisha KM; Division of Medical Genetics, Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, 576104, India, girish.katta@manipal.edu., Bidchol AM, Sarpangala MK, Satyamoorthy K

المصدر: Indian journal of pediatrics [Indian J Pediatr] 2014 Mar; Vol. 81 (3), pp. 302-4. Date of Electronic Publication: 2013 Oct 15.

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

بيانات الدورية: Publisher: Dr. K. C. Chaudhuri Foundation, co-published by Springer India Country of Publication: India NLM ID: 0417442 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 0973-7693 (Electronic) Linking ISSN: 00195456 NLM ISO Abbreviation: Indian J Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: Focal Dermal Hypoplasia/*genetics , Frameshift Mutation/*genetics , Repressor Proteins/*genetics , Skin Diseases/*genetics , Twist-Related Protein 1/*genetics, Ectodermal Dysplasia ; Female ; Focal Facial Dermal Dysplasias ; Humans ; Infant

المؤلفون: Dalal A; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Andhra Pradesh, India., Bhavani G SL, Togarrati PP, Bierhals T, Nandineni MR, Danda S, Danda D, Shah H, Vijayan S, Gowrishankar K, Phadke SR, Bidchol AM, Rao AP, Nampoothiri S, Kutsche K, Girisha KM

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2012 Nov; Vol. 158A (11), pp. 2820-8. Date of Electronic Publication: 2012 Sep 17.

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: Mutation*, Arthropathy, Neurogenic/*genetics , CCN Intercellular Signaling Proteins/*genetics , White People/*genetics, Adolescent ; Adult ; Amino Acid Sequence ; Arthropathy, Neurogenic/diagnostic imaging ; Base Sequence ; CCN Intercellular Signaling Proteins/chemistry ; Child ; Child, Preschool ; Consanguinity ; Family ; Female ; Gene Order ; Humans ; India ; Infant ; Joint Diseases/congenital ; Male ; Middle Aged ; Molecular Sequence Data ; Pedigree ; Radiography ; Sequence Alignment ; Young Adult

SCR Disease Name: Arthropathy, progressive pseudorheumatoid, of childhood

المؤلفون: Girisha KM; Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, India., Shrikiran A, Bidchol AM, Sakamoto O, Gopinath PM, Satyamoorthy K

المصدر: Indian journal of human genetics [Indian J Hum Genet] 2012 Sep; Vol. 18 (3), pp. 346-8.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Medknow Publications on behalf of Indian Society of Human Genetics Country of Publication: India NLM ID: 101223637 Publication Model: Print Cited Medium: Print ISSN: 0971-6866 (Print) Linking ISSN: 1998362X NLM ISO Abbreviation: Indian J Hum Genet Subsets: PubMed not MEDLINE