Published in Pediatr Dev Pathol on February 03, 2010
microRNA-17 family promotes polycystic kidney disease progression through modulation of mitochondrial metabolism. Nat Commun (2017) 0.75
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Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities. Pediatr Nephrol (2017) 0.75
Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. Am J Hum Genet (2007) 3.55
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet (2007) 3.42
Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis. Genome Res (2011) 2.89
Rudimentary horn pregnancy: first-trimester prerupture sonographic diagnosis and confirmation by magnetic resonance imaging. J Ultrasound Med (2005) 2.84
Occurrence of CNS demyelinating disease in patients with myasthenia gravis. Neurology (2006) 2.82
Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation. Ann Neurol (2004) 2.09
Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. Am J Hum Genet (2006) 1.97
Sampling and Definitions of Placental Lesions: Amsterdam Placental Workshop Group Consensus Statement. Arch Pathol Lab Med (2016) 1.96
A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair. J Am Coll Cardiol (2003) 1.84
Associations of maternal prepregnancy body mass index and gestational weight gain with adult offspring cardiometabolic risk factors: the Jerusalem Perinatal Family Follow-up Study. Circulation (2012) 1.76
Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia. Am J Hum Genet (2008) 1.71
IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science (2010) 1.63
Acute infantile liver failure due to mutations in the TRMU gene. Am J Hum Genet (2009) 1.61
An SNX10 mutation causes malignant osteopetrosis of infancy. J Med Genet (2012) 1.58
C6ORF66 is an assembly factor of mitochondrial complex I. Am J Hum Genet (2008) 1.56
The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy. Blood (2013) 1.55
mtDNA depletion myopathy: elucidation of the tissue specificity in the mitochondrial thymidine kinase (TK2) deficiency. Mol Genet Metab (2003) 1.52
Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood. Am J Hum Genet (2008) 1.48
Cytohistologic correlation of thyroid nodules. Am J Surg (2007) 1.46
Fetal vascular obstructive lesions: nosology and reproducibility of placental reaction patterns. Pediatr Dev Pathol (2004) 1.44
The oncofetal H19 RNA connection: hypoxia, p53 and cancer. Biochim Biophys Acta (2010) 1.41
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. Am J Hum Genet (2009) 1.39
Pathogenesis of acute viral disease induced in fish by carp interstitial nephritis and gill necrosis virus. J Virol (2004) 1.36
Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy. Hum Mol Genet (2005) 1.21
A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism. PLoS One (2012) 1.20
Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing. Mol Genet Metab (2011) 1.20
A multidisciplinary team approach for management of a giant congenital cervical teratoma. Int J Pediatr Otorhinolaryngol (2002) 1.19
Development of a microRNA-based molecular assay for the detection of papillary thyroid carcinoma in aspiration biopsy samples. Thyroid (2011) 1.18
Primary T-cell CNS lymphoma presenting with leptomeningeal spread and neurolymphomatosis. J Neurooncol (2008) 1.18
Hereditary sensory autonomic neuropathy caused by a mutation in dystonin. Ann Neurol (2012) 1.13
Novel mechanism whereby nuclear factor kappaB mediates DNA damage repair through regulation of O(6)-methylguanine-DNA-methyltransferase. Cancer Res (2007) 1.12
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study. Hum Mutat (2010) 1.11
Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. Am J Hum Genet (2009) 1.09
A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents. Am J Hum Genet (2002) 1.07
Progressive low-grade oligodendrogliomas: response to temozolomide and correlation between genetic profile and O6-methylguanine DNA methyltransferase protein expression. Cancer (2006) 1.05
PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism. Mol Genet Metab (2008) 1.05
Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene. Am J Hum Genet (2009) 1.05
CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy. Blood (2012) 1.02
Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation. Ann Neurol (2008) 1.02
SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis. Ann Neurol (2009) 1.02
An unusual composite endometrial tumor combining papillary serous carcinoma and small cell carcinoma. Am J Surg Pathol (2004) 1.01
Use of H19 regulatory sequences for targeted gene therapy in cancer. Int J Cancer (2002) 1.01
Multifocality in well-differentiated thyroid carcinomas calls for total thyroidectomy. Am J Surg (2010) 1.01
Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex. Am J Hum Genet (2010) 1.01
The association of common SNPs and haplotypes in the CETP and MDR1 genes with lipids response to fluvastatin in familial hypercholesterolemia. Atherosclerosis (2005) 1.00
Birth weight of offspring, maternal pre-pregnancy characteristics, and mortality of mothers: the Jerusalem perinatal study cohort. Ann Epidemiol (2009) 1.00
Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin. Mol Genet Metab (2007) 0.99
Human sterol 27-hydroxylase (CYP27) overexpressor transgenic mouse model. Evidence against 27-hydroxycholesterol as a critical regulator of cholesterol homeostasis. J Biol Chem (2002) 0.99
Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter. J Med Genet (2013) 0.98
Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7. J Inherit Metab Dis (2011) 0.98
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria. Hum Mutat (2010) 0.98
Expression of serum amyloid a in human ovarian epithelial tumors: implication for a role in ovarian tumorigenesis. J Histochem Cytochem (2010) 0.98
Longitudinal assessment of genetic and epigenetic markers in oligodendrogliomas. Clin Cancer Res (2007) 0.97
Age-related changes in the morphology of the myenteric plexus of the human colon. Auton Neurosci (2004) 0.97
Modeling of human cytomegalovirus maternal-fetal transmission in a novel decidual organ culture. J Virol (2011) 0.96
IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approach. Haematologica (2010) 0.96
The clinical spectrum of fetal Niemann-Pick type C. Am J Med Genet A (2009) 0.95
Associations between treatment processes, patient characteristics, and outcomes in outpatient physical therapy practice. Arch Phys Med Rehabil (2009) 0.95
l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation. Mol Genet Metab (2010) 0.95
Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia. Mol Genet Metab (2010) 0.94
On the mechanism of accumulation of cholestanol in the brain of mice with a disruption of sterol 27-hydroxylase. J Lipid Res (2010) 0.94
Neurotropism of herpes simplex virus type 1 in brain organ cultures. J Gen Virol (2006) 0.92
Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2. Am J Hum Genet (2012) 0.92
Frontotemporal dementia and parkinsonism with the P301S tau gene mutation in a Jewish family. J Neurol (2003) 0.91
Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I. Hum Mutat (2002) 0.90
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. J Med Genet (2013) 0.90
Dural arachnoid granulations and "giant" arachnoid granulations. Surg Radiol Anat (2008) 0.90
Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity. Arch Neurol (2006) 0.90
Leukoencephalopathy with neuroaxonal spheroids presenting as frontotemporal dementia. Isr Med Assoc J (2008) 0.89
N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy. Ann Neurol (2002) 0.89
Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids. Mol Genet Metab (2002) 0.89
A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem. J Hum Genet (2005) 0.89
Congenital myopathy is caused by mutation of HACD1. Hum Mol Genet (2013) 0.89
Heparanase upregulates Th2 cytokines, ameliorating experimental autoimmune encephalitis. Mol Immunol (2010) 0.89
On the regulatory role of side-chain hydroxylated oxysterols in the brain. Lessons from CYP27A1 transgenic and Cyp27a1(-/-) mice. J Lipid Res (2013) 0.89
A human laterality disorder associated with recessive CCDC11 mutation. J Med Genet (2012) 0.88
Intradural extramedullary hemangiopericytoma of the thoracic spine infiltrating a nerve root: a case report and literature review. Spine (Phila Pa 1976) (2011) 0.88
Listeria infection during pregnancy: a 10 year experience. Isr Med Assoc J (2002) 0.87
West syndrome caused by ST3Gal-III deficiency. Epilepsia (2012) 0.87
Obesity and blood pressure in 17-year-old offspring of mothers with gestational diabetes: insights from the Jerusalem Perinatal Study. Exp Diabetes Res (2011) 0.87
Increased risk for atherosclerosis of various macrophage scavenger receptor 1 alleles. Genet Test Mol Biomarkers (2009) 0.86
KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction. J Med Genet (2013) 0.86
p57Kip2 (cdkn1c): sequence, splice variants and unique temporal and spatial expression pattern in the rat pancreas. Lab Invest (2005) 0.85
The unique neuroradiology of complex I deficiency due to NDUFA12L defect. Mol Genet Metab (2008) 0.85
TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome. J Med Genet (2010) 0.85
The role of magnetic resonance imaging in the evaluation of isolated mild ventriculomegaly. J Ultrasound Med (2004) 0.85
SREBP-2 and SCAP isoforms and risk of early onset myocardial infarction. Atherosclerosis (2007) 0.85
Solitary juvenile xanthogranuloma mimicking intracranial tumor in children. J Clin Neurosci (2012) 0.84
Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis. J Med Genet (2013) 0.84
Variable phenotypes of knockin mice carrying the M712T Gne mutation. Neuromolecular Med (2012) 0.84