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Hypertrophic Cardiomyopathy: An Autopsy Analysis of 14 Cases, 12/2001
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is one of the less common forms of primary cardiomyopathies. There is little data available on HCM in Indian... 
Myofibre disarray, Obliterative small vessel disease, Sudden death
Journal
by McDonald, E. Robert and de Weck, Antoine and Schlabach, Michael R and Billy, Eric and Mavrakis, Konstantinos J and Hoffman, Gregory R and Belur, Dhiren and Castelletti, Deborah and Frias, Elizabeth and Gampa, Kalyani and Golji, Javad and Kao, Iris and Li, Li and Megel, Philippe and Perkins, Thomas A and Ramadan, Nadire and Ruddy, David A and Silver, Serena J and Sovath, Sosathya and Stump, Mark and Weber, Odile and Widmer, Roland and Yu, Jianjun and Yu, Kristine and Yue, Yingzi and Abramowski, Dorothee and Ackley, Elizabeth and Barrett, Rosemary and Berger, Joel and Bernard, Julie L and Billig, Rebecca and Brachmann, Saskia M and Buxton, Frank and Caothien, Roger and Caushi, Justina X and Chung, Franklin S and Cortés-Cros, Marta and deBeaumont, Rosalie S and Delaunay, Clara and Desplat, Aurore and Duong, William and Dwoske, Donald A and Eldridge, Richard S and Farsidjani, Ali and Feng, JiaJia and Feng, Fei and Flemming, Daisy and Forrester, William and Galli, Giorgio G and Gao, Zhenhai and Gauter, François and Gibaja, Veronica and Haas, Kristy and Hattenberger, Marc and Hood, Tami and Hurov, Kristen E and Jagani, Zainab and Jenal, Mathias and Johnson, Jennifer A and Jones, Michael D and Kapoor, Avnish and Korn, Joshua and Liu, Jilin and Liu, Shumei and Liu, Qiumei and Liu, Yue and Loo, Alice T and Macchi, Kaitlin J and Martin, Typhaine and McAllister, Gregory and Meyer, Amandine and Mollé, Sandra and Pagliarini, Raymond A and Phadke, Tanushree and Repko, Brian and Schouwey, Tanja and Shanahan, Frances and Shen, Qiong and Stamm, Christelle and Stephan, Christine and Stucke, Volker M and Tiedt, Ralph and Varadarajan, Malini and Venkatesan, Kavitha and Vitari, Alberto C and Wallroth, Marco and Weiler, Jan and Zhang, Jing and Mickanin, Craig and Myer, Vic E and Porter, Jeffery A and Lai, Albert and Bitter, Hans and Lees, Emma and Keen, Nicholas and Kauffmann, Audrey and Stegmeier, Frank and Hofmann, Francesco and Schmelzle, Tobias and Sellers, William R
Cell, ISSN 0092-8674, 07/2017, Volume 170, Issue 3, pp. 577 - 592.e10
Journal Article
GENE, ISSN 0378-1119, 05/2015, Volume 562, Issue 1, pp. 55 - 61
Objective: Among the rapid aneuploidy detection methods, QF-PCR has now become an alternative tool for prenatal aneuploidy diagnosis concomitant with... 
Quantitative fluorescent PCR | Rapid aneuploidy test | IN-SITU HYBRIDIZATION | Aneuploidy | TRISOMIES | Down syndrome | COMMON CHROMOSOME ANEUPLOIDIES | QUANTITATIVE FLUORESCENCE PCR | ORIGIN | POLYMERASE-CHAIN-REACTION | Karyotyping | DOWN-SYNDROME | GENETICS & HEREDITY | EXPERIENCE | SAMPLES | RAPID DETECTION
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 01/2019, Volume 62, Issue 1, pp. 61 - 64
Microphthalmia, anophthalmia are the malformations of the eye, referring to a congenital absence, and a reduced size of the eyeball. Coloboma of iris is... 
Coloboma | Anophthalmia | Next generation sequencing | Microphthalmia | GENETICS & HEREDITY | ODZ GENE | FAMILY
Journal Article
The Indian Journal of Pediatrics, ISSN 0019-5456, 1/2019, Volume 86, Issue 1, pp. 44 - 48
Stem cell transplantation and cord blood banking have received much popularity among general public and medical professionals in the recent past. But... 
Pediatrics | Umbilical cord blood banking | Medicine & Public Health | Gynecology | Stem cells | India | PEDIATRICS | THERAPY | College graduates | Medical genetics | Bone marrow | Transplantation | Private banking | Blood banks | Hematopoietic stem cells
Journal Article
Gene, ISSN 0378-1119, 02/2014, Volume 535, Issue 2, pp. 97 - 100
Schizophrenia (SCZ) has a heritability of about 80%, and the search for the genetic basis of this disease has been frustrating. Because schizophrenia has no... 
Schizophrenia | Bipolar disorder | GWAS | Meta analysis | Mental retardation | METAANALYSIS | INCREASE RISK | ENVIRONMENT | SUSCEPTIBILITY LOCI | VULNERABILITY | PATHOGENESIS | GENETICS & HEREDITY | LINKAGE | ASSOCIATION | EXPRESSION | Genetic Predisposition to Disease | Schizophrenia - metabolism | Schizophrenia - genetics | Genetic Association Studies | Humans | Genetic research
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2018, Volume 176, Issue 12, pp. 2896 - 2900
Malan syndrome and Marshall–Smith syndrome (MSS) are allelic disorders caused by mutation in NFIX gene. We report a 3‐year‐ 6 months‐ old female with clinical... 
Marshall–Smith syndrome | Malan syndrome | missense mutation | NFIX gene | MARSHALL-SMITH-SYNDROME | SOTOS-LIKE OVERGROWTH | NFIX | SEQUENCE VARIANTS | DNA-BINDING/DIMERIZATION DOMAIN | Marshall-Smith syndrome | GENE | GENETICS & HEREDITY | MUTATIONS | DELETIONS | Radiography | Phenotypes | Mutation | Nfix gene | Genotypes
Journal Article
The Indian Journal of Pediatrics, ISSN 0019-5456, 2/2018, Volume 85, Issue 2, pp. 102 - 107
To compile the socio-demographic profile and estimate the economic burden of transfusion dependent thalassemia.This cross-sectional descriptive study was... 
Demographic study | Pediatrics | Thalassemia | Economic burden | Medicine & Public Health | Gynecology | CHALLENGE | PREVENTION | PEDIATRICS | QUALITY-OF-LIFE | BETA-THALASSEMIA | DEVELOPING-COUNTRIES | INDIA | CARE | CHILDREN | Economic aspects | Medical records | Blood transfusion | Analysis
Journal Article
Indian Pediatrics, ISSN 0019-6061, 7/2019, Volume 56, Issue 7, pp. 603 - 605
Vici syndrome is a neurodevelopmental disorder of the autophagy pathway. Almost all cases reported have the cardinal features of agenesis of corpus callosum,... 
Pediatrics | Cataract | Medicine & Public Health | Hypopigmentation | Agenesis of corpus callosum | Maternal and Child Health | Autophagy | Developmental delay | Pediatric Surgery | DISORDERS | PEDIATRICS | Genetic aspects | Pregnant women | Immunodeficiency | Medical genetics
Journal Article
Journal Article
SOLID STATE IONICS, ISSN 0167-2738, 02/2011, Volume 183, Issue 1, pp. 26 - 31
Undoped and acceptor doped tin pyrophosphate with composition D0.1Sn0.9P2O7 (- delta) (D = In, Ga, Zn, Sc, and Mg) were synthesized by the conventional solid... 
PHYSICS, CONDENSED MATTER | Tin pyrophosphate | SPECTROSCOPY | Proton conduction | Fuel cells | PHASE-TRANSITIONS | NUCLEAR-MAGNETIC-RESONANCE | CHEMISTRY, PHYSICAL | Impedance spectroscopy | Nuclear magnetic resonance | LAPO4 | Transference number
Journal Article
Indian Pediatrics, ISSN 0019-6061, 10/2017, Volume 54, Issue 10, pp. 879 - 881
Balanced translocations are common with the incidence of 1 in 500.Two cousins with intellectual disability with family history of holoprosencephaly.Microarray... 
Pediatrics | Intellectual disability | Medicine & Public Health | Maternal and Child Health | Pediatric Surgery | Genetic translocation | Holoprosencephaly | PEDIATRICS | Analysis | College graduates | Medical genetics
Journal Article
BMC Infectious Diseases, ISSN 1471-2334, 04/2017, Volume 17, Issue 1, pp. 293 - 13
Background: Zika, dengue, and chikungunya are three mosquito-borne viruses having overlapping transmission vectors. They cause diseases having similar symptoms... 
Point-of-care diagnostics | Fluorescence read-out | Sample preparation | Mosquito surveillance | Virus detection | Multiplexed isothermal amplification | Zika detection | INFECTIOUS DISEASES | ISOTHERMAL AMPLIFICATION | ACID | SALIVA | FLUORESCENCE | ALIGNMENT | URINE | PCR | Chikungunya Fever - diagnosis | Limit of Detection | Zika Virus - genetics | Chikungunya virus - genetics | Dengue - blood | Nucleic Acid Amplification Techniques - methods | Humans | RNA, Viral - analysis | Zika Virus - isolation & purification | India | Reverse Transcription | Dengue Virus - genetics | Animals | RNA, Viral - genetics | Zika Virus Infection - diagnosis | Reagent Kits, Diagnostic | Culicidae | Dengue Virus - pathogenicity | Dengue - urine | Female | Nucleic Acid Amplification Techniques - instrumentation | RNA, Viral - urine | Zika Virus - pathogenicity | Dengue - diagnosis | Biological properties | Guillain-Barre syndrome | Viral diseases | Fluorescence | Viruses | Chains | Zika virus | Mitochondrial DNA | Aquatic insects | Assaying | Blood plasma | Tubes | Sampling | Deoxyribonucleic acid--DNA | Carcasses | Urine | Vector-borne diseases | Signs and symptoms | Dengue fever | Dengue | Health risks | Nucleic acids | Ribonucleic acid--RNA | Patients | Contamination | Zoonoses | Virology | Mosquitoes | Disease transmission | Equivalence | Reagents | Environmental monitoring | Refrigeration | Uracil
Journal Article