المؤلفون: Patil VA; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Parel, Mumbai, 400012, Maharashtra, India., Lila AR; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Parel, Mumbai, 400012, Maharashtra, India. anuraglila@gmail.com., Shah N; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Parel, Mumbai, 400012, Maharashtra, India., Arya S; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Parel, Mumbai, 400012, Maharashtra, India., Ekbote AV; Clinical and Molecular Genetics, Kamalnayan Bajaj Hospital, Aurangabad, India., Sarathi V; Department of Endocrinology, Vydehi Institute of Medical Sciences and Research Centre, Bengaluru, India., Shah R; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Parel, Mumbai, 400012, Maharashtra, India., Jadhav SS; Sapthagiri Institute of Medical Sciences and Research Centre, Bengaluru, India., Memon SS; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Parel, Mumbai, 400012, Maharashtra, India., Bandgar T; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Parel, Mumbai, 400012, Maharashtra, India.

المصدر: Pituitary [Pituitary] 2022 Jun; Vol. 25 (3), pp. 444-453. Date of Electronic Publication: 2022 Feb 08.

نوع المنشور: Journal Article; Systematic Review

بيانات الدورية: Publisher: Kluwer Academic Publishers Country of Publication: United States NLM ID: 9814578 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-7403 (Electronic) Linking ISSN: 1386341X NLM ISO Abbreviation: Pituitary Subsets: MEDLINE

مواضيع طبية MeSH: Hypogonadism*/genetics , Hypogonadism*/pathology, Genotype ; High-Throughput Nucleotide Sequencing ; Humans ; Mutation/genetics ; Phenotype ; Receptors, Kisspeptin-1/genetics

المؤلفون: Patil VA; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India., Lila AR; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India., Shah N; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India., Ekbote AV; Clinical and Molecular Genetics, Kamalnayan Bajaj Hospital, Aurangabad, India., Shah R; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India., Bhandare VV; Department of Biosciences and Bioengineering, Indian Institute of Technology Bombay, Mumbai, India., Sarathi V; Department of Endocrinology, Vydehi Institute of Medical Sciences and Research Centre, Bengaluru, India., Arya S; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India., Memon SS; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India., Kunwar A; Department of Biosciences and Bioengineering, Indian Institute of Technology Bombay, Mumbai, India., Bandgar T; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India.

المصدر: Neuroendocrinology [Neuroendocrinology] 2022; Vol. 112 (8), pp. 723-732. Date of Electronic Publication: 2021 Dec 17.

نوع المنشور: Systematic Review; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Karger Country of Publication: Switzerland NLM ID: 0035665 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1423-0194 (Electronic) Linking ISSN: 00283835 NLM ISO Abbreviation: Neuroendocrinology Subsets: MEDLINE

مواضيع طبية MeSH: Hypogonadism*/genetics, Genotype ; Humans ; Mutation ; Phenotype ; Retrospective Studies

المؤلفون: Maddirevula S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alsahli S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alhabeeb L; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Patel N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alzahrani F; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Shamseldin HE; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Anazi S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Ewida N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alsaif HS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Mohamed JY; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alazami AM; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Ibrahim N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Abdulwahab F; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Hashem M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Abouelhoda M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Monies D; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Al Tassan N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Alshammari M; Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Alsagheir A; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Seidahmed MZ; Pediatric Department, Forces Hospital, Riyadh, Saudi Arabia., Sogati S; Department of Medical Genetics, King Fahad General Hospital, Jeddah, Saudi Arabia., Aglan MS; Clinical Genetics Department, Human Genetics & Genome Research Division, Center of Excellence of Human Genetics, National Research Centre, Cairo, Egypt., Hamad MH; Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Salih MA; Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Hamed AA; Department of Pediatrics and Child Health, Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Alhashmi N; Department of Pediatrics, Royal Hospital, Muscat, Oman., Nabil A; Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt., Alfadli F; Department of Pediatrics, Maternity and Children's Hospital, Medina, Saudi Arabia., Abdel-Salam GMH; Clinical Genetics Department, Human Genetics & Genome Research Division, Center of Excellence of Human Genetics, National Research Centre, Cairo, Egypt., Alkuraya H; Global Eye Care, Specialized Medical Center Hospital, Riyadh, Saudi Arabia., Peitee WO; Clinical Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia., Keng WT; Clinical Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia., Qasem A; Department of Pediatric, Prince Sultan Medical Military City, Riyadh, Saudi Arabia., Mushiba AM; Department of Pediatric Subspecialties, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Zaki MS; Clinical Genetics Department, Human Genetics & Genome Research Division, Center of Excellence of Human Genetics, National Research Centre, Cairo, Egypt., Fassad MR; The Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt., Alfadhel M; King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Genetics Division, Department of Pediatrics, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia., Alexander S; Department of Paediatric Endocrinology and Diabetes, Chelsea and Westminster Hospital NHS Foundation Trust, London, UK., Sabr Y; Department of Obstetrics and Gynecology, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Temtamy S; Clinical Genetics Department, Human Genetics & Genome Research Division, Center of Excellence of Human Genetics, National Research Centre, Cairo, Egypt., Ekbote AV; Clinical Genetics Unit, Christian Medical College, Vellore, India., Ismail S; Clinical Genetics Department, Human Genetics & Genome Research Division, Center of Excellence of Human Genetics, National Research Centre, Cairo, Egypt., Hosny GA; Department of Orthopedic Surgery, Banha University, Banha, Egypt., Otaify GA; Clinical Genetics Department, Human Genetics & Genome Research Division, Center of Excellence of Human Genetics, National Research Centre, Cairo, Egypt., Amr K; Clinical Genetics Department, Human Genetics & Genome Research Division, Center of Excellence of Human Genetics, National Research Centre, Cairo, Egypt., Al Tala S; Department of Pediatrics, Armed Forces Hospital Program Southwest Region, Khamis Mushait, Saudi Arabia., Khan AO; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates., Rizk T; Department of Pediatric Neurology, Dr. Sulaiman Al Habib Hospital, Riyadh, Saudi Arabia., Alaqeel A; Department of Pediatric, Prince Sultan Medical Military City, Riyadh, Saudi Arabia., Alsiddiky A; Department of Orthopedics, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Singh A; Department of Pediatrics, Genetic Clinic, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India., Kapoor S; Department of Pediatrics, Maulana Azad Medical College, New Delhi, India., Alhashem A; Department of Pediatric, Prince Sultan Medical Military City, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Faqeih E; Department of Pediatric Subspecialties, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Shaheen R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. rshaheen@kfshrc.edu.sa., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa.; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa.; Department of Pediatric, Prince Sultan Medical Military City, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2018 Dec; Vol. 20 (12), pp. 1609-1616. Date of Electronic Publication: 2018 Apr 05.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Heterogeneity* , Genetic Predisposition to Disease*, Exome/*genetics , Musculoskeletal Abnormalities/*genetics, Alleles ; Blood Proteins/genetics ; Carboxylic Ester Hydrolases ; Cohort Studies ; Exoribonucleases/genetics ; Female ; Fetal Proteins/genetics ; Founder Effect ; Genetics, Population ; High-Throughput Nucleotide Sequencing ; Humans ; Intracellular Signaling Peptides and Proteins/genetics ; Male ; Membrane Proteins/genetics ; Musculoskeletal Abnormalities/classification ; Musculoskeletal Abnormalities/pathology ; Neoplasm Proteins/genetics ; Oncogene Proteins/genetics ; Phenotype ; Receptors, Cell Surface/genetics ; Wnt3A Protein/genetics

المؤلفون: Muthusamy K; Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India., Ekbote AV; Department of Medical Genetics, Christian Medical College, Vellore, Tamil Nadu, India., Thomas MM; Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India., Aaron S; Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India., Mathew V; Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India., Patil AB; Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India., Sivadasan A; Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India., Prabhakar AT; Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India., Yoganathan S; Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India., Alexander M; Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India.

المصدر: Neurology India [Neurol India] 2016 Nov-Dec; Vol. 64 (6), pp. 1328-1331.

نوع المنشور: Letter

بيانات الدورية: Publisher: Medknow Publications Country of Publication: India NLM ID: 0042005 Publication Model: Print Cited Medium: Print ISSN: 0028-3886 (Print) Linking ISSN: 00283886 NLM ISO Abbreviation: Neurol India Subsets: MEDLINE

مواضيع طبية MeSH: Basal Ganglia Diseases/*therapy, Humans

SCR Disease Name: Basal ganglia disease, biotin-responsive

المؤلفون: Dutta AK; Departments of aClinical Genetics bNeonatology, Christian Medical College, Vellore, India., Ekbote AV, Thomas N, Omprakash S, Danda S

المصدر: Clinical dysmorphology [Clin Dysmorphol] 2016 Oct; Vol. 25 (4), pp. 190-1.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9207893 Publication Model: Print Cited Medium: Internet ISSN: 1473-5717 (Electronic) Linking ISSN: 09628827 NLM ISO Abbreviation: Clin Dysmorphol Subsets: MEDLINE

مواضيع طبية MeSH: Phenotype*, Corneal Opacity/*diagnosis , Cutis Laxa/*diagnosis , Heart Defects, Congenital/*diagnosis , Intellectual Disability/*diagnosis , Urogenital Abnormalities/*diagnosis, Alleles ; Corneal Opacity/genetics ; Cutis Laxa/genetics ; Female ; Homozygote ; Humans ; Infant, Newborn ; Infant, Premature ; Intellectual Disability/genetics ; Mutation ; Pyrroline Carboxylate Reductases/genetics ; delta-1-Pyrroline-5-Carboxylate Reductase

SCR Disease Name: De Barsy syndrome

المؤلفون: Ross B; Departments of Neonatology, *Pediatrics and #Clinical Genetics Unit,Christian Medical College, Vellore, Tamilnadu, India. Correspondence to: Dr Benjamin Ross, Department of Neonatology, Christian Medical College, Vellore 632 004, Tamilnadu, India. benjaminross@cmcvellore.ac.in., Kumar M, Srinivasan H, Ekbote AV

المصدر: Indian pediatrics [Indian Pediatr] 2016 Aug 08; Vol. 53 (8), pp. 738-40.

نوع المنشور: Case Reports; Journal Article

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: Isoleucine*/administration & dosage , Isoleucine*/deficiency , Maple Syrup Urine Disease*/diet therapy , Maple Syrup Urine Disease*/genetics , Maple Syrup Urine Disease*/physiopathology, Acrodermatitis ; Breast Feeding ; Diagnosis, Differential ; Humans ; Infant Formula ; Infant, Newborn ; Zinc/deficiency

SCR Disease Name: Acrodermatitis enteropathica

المؤلفون: Wilson BT; Northern Genetics Service, Newcastle Upon Tyne NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, UK.; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK., Stark Z; Murdoch Childrens Research Institute, Parkville, Victoria, Australia., Sutton RE; Northern Genetics Service, Newcastle Upon Tyne NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, UK., Danda S; Clinical Genetics Unit, Christian Medical College, Vellore, India., Ekbote AV; Clinical Genetics Unit, Christian Medical College, Vellore, India., Elsayed SM; Medical Genetics Center, Korba, Cairo, Egypt.; Children's Hospital, Ain Shams University, Cairo, Egypt., Gibson L; Paediatrics & Child Health, University College Cork, Cork, Republic of Ireland., Goodship JA; Northern Genetics Service, Newcastle Upon Tyne NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, UK.; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK., Jackson AP; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK., Keng WT; Clinical Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia., King MD; Paediatric Neurology, Temple Street Children's University Hospital, Dublin, Republic of Ireland.; School of Medicine and Medical Science, University College Dublin, Dublin, Republic of Ireland., McCann E; Department of Clinical Genetics, Glan Clwyd Hospital, Rhyl, Denbighshire, UK., Motojima T; Division of Child Neurology, Chiba Children's Hospital, Chiba, Japan., Murray JE; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK., Omata T; Division of Child Neurology, Chiba Children's Hospital, Chiba, Japan., Pilz D; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK., Pope K; Murdoch Childrens Research Institute, Parkville, Victoria, Australia., Sugita K; Division of Child Health, Faculty of Education, Chiba University, Chiba, Japan., White SM; Murdoch Childrens Research Institute, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia., Wilson IJ; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2016 May; Vol. 18 (5), pp. 483-93. Date of Electronic Publication: 2015 Jul 23.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Cockayne Syndrome/*diagnosis , Cockayne Syndrome/*genetics , DNA Repair Enzymes/*genetics, Adolescent ; Adult ; Child ; Child, Preschool ; Cockayne Syndrome/epidemiology ; Cockayne Syndrome/physiopathology ; DNA Helicases/genetics ; DNA Repair/genetics ; Female ; Humans ; Infant ; Male ; Poly-ADP-Ribose Binding Proteins ; Transcription Factors/genetics ; Young Adult

المؤلفون: Bhavani GS; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India., Shah H; Department of Orthopedics, Pediatric Orthopedics services, Kasturba Medical College, Manipal University, Manipal, India., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India., Gupta N; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India., Gowrishankar K; Department of Medical Genetics, Kanchi Kamakoti Childs Trust Hospital, Chennai, Tamilnadu, India., Rao AP; Manipal Hospital, Bangalore, India., Kabra M; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India., Agarwal M; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India., Ranganath P; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India.; Division of Diagnostics, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India., Ekbote AV; Department of Clinical Genetics, Christian Medical College and Hospital, Vellore, India., Phadke SR; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India., Kamath A; Department of Community Medicine, Kasturba Medical College, Manipal University, Manipal, Karnataka, India., Dalal A; Division of Diagnostics, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2016 Feb; Vol. 170A (2), pp. 410-417. Date of Electronic Publication: 2015 Nov 24.

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: Matrix Metalloproteinase 2/*genetics , Mutation/*genetics , Osteolysis/*genetics, Adolescent ; Amino Acid Sequence ; Child ; Child, Preschool ; Cohort Studies ; Female ; Homozygote ; Humans ; Infant ; Infant, Newborn ; Male ; Molecular Sequence Data ; Osteolysis/enzymology ; Osteolysis/pathology ; Prognosis ; Sequence Homology, Amino Acid

SCR Disease Name: Osteolysis hereditary multicentric

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: Ekbote AV; Clinical Genetics Unit, Christian Medical College, Vellore, India., Kamath MS; Reproductive Medicine Unit, Christian Medical College, Vellore, India., Danda S; Clinical Genetics Unit, Christian Medical College, Vellore, India.

المصدر: Journal of pediatric genetics [J Pediatr Genet] 2014 Sep; Vol. 3 (3), pp. 167-73.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Thieme Country of Publication: Germany NLM ID: 101589859 Publication Model: Print Cited Medium: Print ISSN: 2146-4596 (Print) Linking ISSN: 2146460X NLM ISO Abbreviation: J Pediatr Genet Subsets: PubMed not MEDLINE