Published in Ann Med Health Sci Res on April 01, 2013
Joubert Syndrome and related disorders. Orphanet J Rare Dis (2010) 3.10
Analysis and classification of cerebellar malformations. AJNR Am J Neuroradiol (2002) 3.00
Joubert syndrome: a review. Am J Med Genet (1992) 2.83
Joubert syndrome (and related disorders) (OMIM 213300). Eur J Hum Genet (2007) 2.32
Genotypes and phenotypes of Joubert syndrome and related disorders. Eur J Med Genet (2007) 2.23
Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol (1999) 2.11
Clinical and molecular features of Joubert syndrome and related disorders. Am J Med Genet C Semin Med Genet (2009) 1.66
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. J Med Genet (2005) 1.47
Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI. Prenat Diagn (2005) 0.98
Ophthalmological findings in Joubert syndrome. Eye (Lond) (2009) 0.95
MRI findings in Joubert syndrome. Indian J Pediatr (2009) 0.93
A case of Joubert's syndrome with extensive cerebral malformations. Clin Neuropathol (2000) 0.90
Plea for an anatomical approach to abnormalities of the posterior fossa in prenatal diagnosis. Ultrasound Obstet Gynecol (2006) 0.80
Crystal structure of HIV-1 reverse transcriptase in complex with a polypurine tract RNA:DNA. EMBO J (2001) 4.36
Diminished support for linkage between manic depressive illness and X-chromosome markers in three Israeli pedigrees. Nat Genet (1993) 3.40
Structure and functional implications of the polymerase active site region in a complex of HIV-1 RT with a double-stranded DNA template-primer and an antibody Fab fragment at 2.8 A resolution. J Mol Biol (1998) 3.14
Lamivudine (3TC) resistance in HIV-1 reverse transcriptase involves steric hindrance with beta-branched amino acids. Proc Natl Acad Sci U S A (1999) 3.03
Costs of an emergency department-based accelerated diagnostic protocol vs hospitalization in patients with chest pain: a randomized controlled trial. JAMA (1997) 2.86
Structure of unliganded HIV-1 reverse transcriptase at 2.7 A resolution: implications of conformational changes for polymerization and inhibition mechanisms. Structure (1996) 2.69
Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. J Med Genet (2003) 2.52
A possible vulnerability locus for bipolar affective disorder on chromosome 21q22.3. Nat Genet (1994) 2.30
A randomized controlled trial of lamivudine to treat acute hepatitis B. Hepatology (2007) 2.07
Differential SMN2 expression associated with SMA severity. Nat Genet (1998) 1.84
Families of soft-metal-ion-transporting ATPases. J Bacteriol (1999) 1.83
The history and evolution of transsphenoidal surgery. J Neurosurg (2001) 1.80
Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. Am J Hum Genet (1997) 1.79
Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. Hum Genet (2001) 1.66
CYP3A gene expression in human gut epithelium. Pharmacogenetics (1994) 1.66
Prevalence of β-thalassemia and other haemoglobinopathies in six cities in India: a multicentre study. J Community Genet (2012) 1.58
An indigenously developed method for sweat collection and estimation of chloride for diagnosis of cystic fibrosis. Indian Pediatr (2002) 1.56
Touching the heart of HIV-1 drug resistance: the fingers close down on the dNTP at the polymerase active site. Chem Biol (1999) 1.56
Emergency department admissions to inpatient cardiac telemetry beds: a prospective cohort study of risk stratification and outcomes. Am J Med (2001) 1.54
Structure of HIV-1 RT/TIBO R 86183 complex reveals similarity in the binding of diverse nonnucleoside inhibitors. Nat Struct Biol (1995) 1.53
A mutation in human immunodeficiency virus type 1 protease, N88S, that causes in vitro hypersensitivity to amprenavir. J Virol (2000) 1.48
The structure and function of methanol dehydrogenase and related quinoproteins containing pyrrolo-quinoline quinone. Biochem J (1994) 1.45
Evolution of anti-HIV drug candidates. Part 3: Diarylpyrimidine (DAPY) analogues. Bioorg Med Chem Lett (2001) 1.44
Sequence of the algL gene of Pseudomonas aeruginosa and purification of its alginate lyase product. Gene (1993) 1.41
Non specific jejunoileitis--a report of 8 cases. Indian J Gastroenterol (2001) 1.40
Insulin resistance and adolescent girls with polycystic ovary syndrome. J Pediatr Adolesc Gynecol (2009) 1.40
Specific interaction of eukaryotic translation initiation factor 5 (eIF5) with the beta-subunit of eIF2. J Biol Chem (1997) 1.40
A method for early detection of antibiotic resistance in positive blood cultures: experience from an oncology centre in eastern India. Indian J Med Microbiol (2015) 1.39
Performance and potential impact of a chest pain prediction rule in a large public hospital. Am J Med (1999) 1.39
Caveolin-3 directly interacts with the C-terminal tail of beta -dystroglycan. Identification of a central WW-like domain within caveolin family members. J Biol Chem (2000) 1.39
Construction and standardization af a sex knowledge and attitude questionnaire (skaq), in simple hindi, for north Indian population. Indian J Psychiatry (1992) 1.39
Characterization of the interaction between the Wilson and Menkes disease proteins and the cytoplasmic copper chaperone, HAH1p. J Biol Chem (1999) 1.38
Risk factors for severe acute lower respiratory tract infection in under-five children. Indian Pediatr (2001) 1.38
Structure of HIV-1 reverse transcriptase in a complex with the non-nucleoside inhibitor alpha-APA R 95845 at 2.8 A resolution. Structure (1995) 1.37
Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular transformation. Hum Mol Genet (1999) 1.36
Alanine-scanning mutations in the "primer grip" of p66 HIV-1 reverse transcriptase result in selective loss of RNA priming activity. J Biol Chem (1997) 1.36
Mutational analysis of caveolin-induced vesicle formation. Expression of caveolin-1 recruits caveolin-2 to caveolae membranes. FEBS Lett (1998) 1.31
Estradiol selectively regulates innate immune function by polarized human uterine epithelial cells in culture. Mucosal Immunol (2008) 1.30
Selection for contextual fear conditioning affects anxiety-like behaviors and gene expression. Genes Brain Behav (2007) 1.29
The Lys103Asn mutation of HIV-1 RT: a novel mechanism of drug resistance. J Mol Biol (2001) 1.29
An evaluation of a chest pain diagnostic protocol to exclude acute cardiac ischemia in the emergency department. Arch Intern Med (1997) 1.27
The active site of methanol dehydrogenase contains a disulphide bridge between adjacent cysteine residues. Nat Struct Biol (1994) 1.26
Restoration of tRNA3Lys-primed(-)-strand DNA synthesis to an HIV-1 reverse transcriptase mutant with extended tRNAs. Implications for retroviral replication. J Biol Chem (1996) 1.26
Structures of Tyr188Leu mutant and wild-type HIV-1 reverse transcriptase complexed with the non-nucleoside inhibitor HBY 097: inhibitor flexibility is a useful design feature for reducing drug resistance. J Mol Biol (1998) 1.25
Potassium permanganate induced oesophageal stricture. Hum Toxicol (1986) 1.25
Rapid detection of respiratory viruses by centrifugation enhanced cultures from children with acute lower respiratory tract infections. J Clin Virol (2000) 1.24
An atomic model of the outer layer of the bluetongue virus core derived from X-ray crystallography and electron cryomicroscopy. Structure (1997) 1.21
Nucleotide sequence and expression of the Pseudomonas aeruginosa algF gene controlling acetylation of alginate. Mol Microbiol (1993) 1.21
Probabilistic radiographic atlas of glioblastoma phenotypes. AJNR Am J Neuroradiol (2012) 1.20
Iron transport-mediated drug delivery using mixed-ligand siderophore-beta-lactam conjugates. Chem Biol (1996) 1.19
Mutations in HIV reverse transcriptase which alter RNase H activity and decrease strand transfer efficiency are suppressed by HIV nucleocapsid protein. Proc Natl Acad Sci U S A (1997) 1.19
Measurement of direct photon production in p+p collisions at sqrt[s] = 200 GeV. Phys Rev Lett (2007) 1.16
An evaluation of the usefulness of neuroimaging for the diagnosis of Japanese encephalitis. J Neurol (2009) 1.14
An effective immunotherapy regimen for VGKC antibody-positive limbic encephalitis. J Neurol Neurosurg Psychiatry (2010) 1.14
Multiple biological roles associated with the Rous sarcoma virus 5' untranslated RNA U5-IR stem and loop. J Virol (1997) 1.14
The conjunctiva in senile lens exfoliation. Arch Ophthalmol (1976) 1.14
Evaluating contraceptive choice through the method-mix approach. An Indian Council of Medical Research (ICMR) task force study. Contraception (2000) 1.14
Elliptic flow of charged particles in Pb-Pb collisions at sqrt[S(NN)] = 2.76 TeV. Phys Rev Lett (2010) 1.12
Particle-yield modification in jetlike azimuthal dihadron correlations in Pb-Pb collisions at √s(NN)=2.76 TeV. Phys Rev Lett (2012) 1.11
Labrador keratopathy: clinical and pathological findings. Can J Ophthalmol (1975) 1.11
Competitive binding to a charged leucine motif represses transformation by a papillomavirus E6 oncoprotein. Virology (2000) 1.09
Embryonic fat-cell lineage in Drosophila melanogaster. Development (1994) 1.09
Is the spectrum of mutations in Indian patients with cystic fibrosis different? Am J Med Genet (2000) 1.08
The structure and function of the PQQ-containing quinoprotein dehydrogenases. Prog Biophys Mol Biol (1998) 1.08
Transverse momentum distribution and nuclear modification factor of charged particles in p+Pb collisions at sqrt[s(NN)] = 5.02 TeV. Phys Rev Lett (2013) 1.08
The DNA unwinding element binding protein DUE-B interacts with Cdc45 in preinitiation complex formation. Mol Cell Biol (2010) 1.07
Mutations of human TMHS cause recessively inherited non-syndromic hearing loss. J Med Genet (2006) 1.07
Feasibility of a rapid diagnostic protocol for an emergency department chest pain unit. Ann Emerg Med (1997) 1.06
Serological study of hepatitis A virus infection amongst the students of a medical college in Delhi & evaluation of the need of vaccination. Indian J Med Res (2002) 1.05
Cannabis and cognitive functions: a prospective study. Drug Alcohol Depend (1988) 1.04
Epithelial cell secretions from the human female reproductive tract inhibit sexually transmitted pathogens and Candida albicans but not Lactobacillus. Mucosal Immunol (2010) 1.04
KRAS and BRAF mutations are rare and related to DNA mismatch repair deficiency in gastric cancer from the East and the West: results from a large international multicentre study. Br J Cancer (2013) 1.03
Microstructure and deformation behavior of biocompatible TiO2 nanotubes on titanium substrate. Acta Biomater (2006) 1.02
Transgenic elite indica rice plants expressing CryIAc delta-endotoxin of Bacillus thuringiensis are resistant against yellow stem borer (Scirpophaga incertulas). Proc Natl Acad Sci U S A (1997) 1.02
Purification and characterization of bacterially expressed mammalian translation initiation factor 5 (eIF-5): demonstration that eIF-5 forms a specific complex with eIF-2. Biochemistry (1994) 1.02
Clinical profile and frequency of delta f508 mutation in Indian children with cystic fibrosis. Indian Pediatr (2003) 1.01
Gastroschisis: Nomenclature and Classification. Proc R Soc Med (1908) 1.01
Results of a genome-wide genetic screen for panic disorder. Am J Med Genet (1998) 1.01
Production of a Lectin in Tissue Cultures of Dolichos biflorus. Plant Physiol (1985) 1.00
Characterization of a novel 66 kd subunit of mammalian neurofilaments. Neuron (1989) 0.99
Targeting HIV reverse transcriptase for anti-AIDS drug design: structural and biological considerations for chemotherapeutic strategies. Drug Des Discov (1996) 0.99
Influence of retinoid nutritional status on cellular retinol- and cellular retinoic acid-binding protein concentrations in various rat tissues. J Biol Chem (1985) 0.98
Production of muons from heavy flavor decays at forward rapidity in pp and Pb-Pb collisions at sqrt[s(NN)]=2.76 TeV. Phys Rev Lett (2012) 0.98
Prevalence of beta-thalassaemia in subcastes of Indian Sindhis: Results from a two-phase survey. Public Health (2006) 0.98
The iris in senile exfoliation of the lens. Can J Ophthalmol (1974) 0.97
Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6. Genomics (1992) 0.97
Microbiological safety of street vended fruit chats in Patiala city. Indian J Med Microbiol (2006) 0.97
Characterization of multiple mRNAs that encode mammalian translation initiation factor 5 (eIF-5). J Biol Chem (1996) 0.97
Development of a genus specific primer set for detection of Leishmania parasites by polymerase chain reaction. FEMS Microbiol Lett (1996) 0.96
Evolution of anti-HIV drug candidates. Part 2: Diaryltriazine (DATA) analogues. Bioorg Med Chem Lett (2001) 0.96
Gene expression of the key enzymes of melatonin synthesis in extrapineal tissues of the rat. J Pineal Res (2001) 0.96
Pediatric tracheostomy: a 13-year experience. Pediatr Surg Int (2004) 0.96
Late review of the use of silver sulphadiazine dressings for the treatment of fingertip injuries. Injury (2000) 0.96
Caudal duplication syndrome: more evidence for theory of caudal twinning. J Pediatr Surg (2004) 0.96
Nontraumatic spinal epidural hematoma associated with clopidogrel. Zentralbl Neurochir (2006) 0.95
New HBV subgenotype D9, a novel D/C recombinant, identified in patients with chronic HBeAg-negative infection in Eastern India. J Viral Hepat (2012) 0.94
Cellular retinol-binding protein. Quantitation and distribution. J Biol Chem (1984) 0.94
Selective killing of cholinergic neurons by microglial activation in basal forebrain mixed neuronal/glial cultures. Biochem Biophys Res Commun (1995) 0.94
Nickel-dependent oxidative cross-linking of a protein. Chem Res Toxicol (1997) 0.94
Assessment of nonallelic genetic heterogeneity of chronic (type II and III) spinal muscular atrophy. Hum Hered (1994) 0.93