Published in Hum Genet on April 01, 1989
Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred. Am J Hum Genet (1991) 1.77
Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34. Am J Hum Genet (1991) 0.88
Lung disease recalling paraseptal emphysema in a patient with Goltz syndrome. Multidiscip Respir Med (2016) 0.75
Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder. Nature (1990) 2.80
Identification of amino acid residues in CD81 critical for interaction with hepatitis C virus envelope glycoprotein E2. J Virol (2000) 2.71
Transcript imaging of the development of human T helper cells using oligonucleotide arrays. Nat Genet (2000) 2.71
A designed metal-binding protein with a novel fold. Nature (1993) 2.48
Circulating interleukin-6 as a tumor marker for hepatocellular carcinoma. Ann Oncol (2007) 2.30
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet (2007) 2.21
DNMT3B mutations and DNA methylation defect define two types of ICF syndrome. Hum Mutat (2005) 1.59
Control of the citric acid cycle by glyoxylate. Mechanism of the inhibition by oxalomalate and gamma-hydroxy-alpha-oxoglutarate. Biochem J (1967) 1.58
Aggregates from mutant and wild-type alpha-synuclein proteins and NAC peptide induce apoptotic cell death in human neuroblastoma cells by formation of beta-sheet and amyloid-like filaments. FEBS Lett (1998) 1.55
Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy. J Med Genet (1996) 1.52
A novel mutation and novel features in Nijmegen breakage syndrome. J Med Genet (2001) 1.50
Late diagnosis in severe and mild intellectual disability in adulthood. J Intellect Disabil Res (2004) 1.43
Use of human universally antigenic tetanus toxin T cell epitopes as carriers for human vaccination. J Immunol (1992) 1.40
A continuous assay of hepatitis C virus protease based on resonance energy transfer depsipeptide substrates. Anal Biochem (1996) 1.40
Cytogenetics of multiple endocrine neoplasia syndromes. I. Two different, unique clonal chromosome changes in a medullary thyroid carcinoma and in a C-cell thyroid hyperplasia. Cancer Genet Cytogenet (1992) 1.39
Activity of purified hepatitis C virus protease NS3 on peptide substrates. J Virol (1996) 1.32
A central hydrophobic domain of the hepatitis C virus NS4A protein is necessary and sufficient for the activation of the NS3 protease. J Gen Virol (1996) 1.29
Women heterozygous for deficiency of the (p21 leads to pter) region of the X chromosome are fertile. Hum Genet (1977) 1.24
Multibranched chromosomes 1, 9, and 16 in a patient with combined IgA and IgE deficiency. Hum Genet (1979) 1.23
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation. J Med Genet (2007) 1.23
A new chromosome instability disorder. Clin Genet (1986) 1.23
An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the TREM2 gene. J Neurol Neurosurg Psychiatry (2003) 1.22
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome). J Med Genet (2007) 1.20
A tyrosine-based sorting signal in the beta2 integrin cytoplasmic domain mediates its recycling to the plasma membrane and is required for ligand-supported migration. EMBO J (1999) 1.14
Crystal structure of common type acylphosphatase from bovine testis. Structure (1997) 1.13
Plasma free and intraplatelet serotonin in patients with Raynaud's phenomenon. Int J Cardiol (1988) 1.12
Radiologic progression in patients with juvenile chronic arthritis treated with methotrexate. J Pediatr (1998) 1.12
Probing the tertiary structure of proteins by limited proteolysis and mass spectrometry: the case of Minibody. Protein Sci (1996) 1.11
Natural killer lines and clones with apparent antigen specificity. J Exp Med (1990) 1.10
Pseudodiastrophic dysplasia: a distinct newborn skeletal dysplasia. J Pediatr (1986) 1.10
Preferential maternal derivation in inv dup(15): analysis of eight new cases. Hum Genet (1981) 1.08
Potent peptide inhibitors of human hepatitis C virus NS3 protease are obtained by optimizing the cleavage products. Biochemistry (1998) 1.07
Endogenous morphine. Trends Neurosci (2000) 1.07
Interphysician variability in defining the planning target volume in the irradiation of prostate and seminal vesicles. Radiother Oncol (1998) 1.05
Pathology of infantile cortical hyperostosis (Caffey's disease). Report of a case. J Bone Joint Surg Am (1985) 1.02
Pharmacokinetic profile of fosfomycin trometamol (Monuril). Eur Urol (1987) 1.02
Substrate specificity of the hepatitis C virus serine protease NS3. J Biol Chem (1997) 1.01
The role of pH, temperature, salt type, and salt concentration on the stability of the crystalline, helical, and randomly coiled forms of collagen. J Biol Chem (1967) 1.01
Total intravenous hyperalimentation (TIH) complications in childhood: a radiological survey. Pediatr Radiol (1984) 1.01
Dup(3)(p2----pter) in two families, including one infant with cyclopia. Am J Med Genet (1985) 1.01
A locus for migraine without aura maps on chromosome 14q21.2-q22.3. Am J Hum Genet (2002) 1.01
Evidence for an ancestral alphoid domain on the long arm of human chromosome 2. Hum Genet (1992) 1.01
Lack of feedback inhibition of insulin secretion in denervated human pancreas. Diabetes (1992) 1.01
Ligands for kappa-opioid and ORL1 receptors identified from a conformationally constrained peptide combinatorial library. J Biol Chem (1999) 1.00
CD31/PECAM-1-driven chemokine-independent transmigration of human T lymphocytes. Eur J Immunol (1996) 0.99
Structural characterization of the interactions of optimized product inhibitors with the N-terminal proteinase domain of the hepatitis C virus (HCV) NS3 protein by NMR and modelling studies. J Mol Biol (1999) 0.99
Synchronous multicentric osteosarcoma. Pediatr Radiol (1983) 0.99
Anticardiolipin syndrome in childhood: a report of two cases. Clin Exp Rheumatol (1990) 0.99
Study of the bone pathology in early mucolipidosis II (I-cell disease). Eur J Pediatr (1989) 0.98
Cd bands and centromeric function in dicentric chromosomes. Hum Genet (1980) 0.98
A gene controlling H-Y antigen on the X chromosome. Tentative assignment by deletion mapping to Xp223. Hum Genet (1980) 0.98
Surface topology of Minibody by selective chemical modifications and mass spectrometry. Protein Sci (1997) 0.98
Seladin-1/DHCR24 protects neuroblastoma cells against Abeta toxicity by increasing membrane cholesterol content. J Cell Mol Med (2008) 0.96
Continuous infusion of carboplatin during conventional radiotherapy treatment in advanced squamous carcinoma of the cervix uteri IIB-IIIB (UICC). A phase I/II and pharmacokinetic study. Am J Clin Oncol (1997) 0.95
Regulation of lymphocyte traffic by adhesion molecules. Inflamm Res (1999) 0.95
Ketanserin treatment and serotonin in patients with primary and secondary Raynaud's phenomenon. Eur J Clin Pharmacol (1988) 0.95
Abnormal methylation does not prevent X inactivation in ICF patients. Cytogenet Cell Genet (1999) 0.95
Integrated analysis of microRNA and mRNA expression profiles in physiological myelopoiesis: role of hsa-mir-299-5p in CD34+ progenitor cells commitment. Cell Death Dis (2010) 0.95
A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33----q35.1. J Med Genet (1992) 0.94
Male infertility and 13-14 translocation. Lancet (1973) 0.94
Indirect immunofluorescence of inactive centromeres as indicator of centromeric function. Hum Genet (1986) 0.94
Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation. Hum Genet (1982) 0.93
Portal vein arterialization in hepatobiliary surgery and liver transplantation. Transplant Proc (2007) 0.93
Chromosome abnormalities in lymphocytes and fibroblasts of subjects with multiple endocrine neoplasia type 1. Cancer Genet Cytogenet (1991) 0.92
FLASH is essential during early embryogenesis and cooperates with p73 to regulate histone gene transcription. Oncogene (2011) 0.92
Mucolipidosis II: correlation between radiological features and histopathology of the bones. Pediatr Radiol (1989) 0.92
The role of Yp in sex determination: new evidence from X/Y translocations. Am J Med Genet (1982) 0.91
Correlation between magnetic resonance imaging of posterior pituitary and neurohypophyseal function in children with diabetes insipidus. J Clin Endocrinol Metab (1992) 0.91
Oxidation of low-density lipoprotein in atherosclerosis from basic biochemistry to clinical studies. Curr Mol Med (2002) 0.91
Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome. J Med Genet (1992) 0.91
Cytogenetics of multiple endocrine neoplasia syndrome. II. Chromosome abnormalities in an insulinoma and a glucagonoma from two subjects with MEN1. Cancer Genet Cytogenet (1992) 0.91
Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression. J Med Genet (1998) 0.90
Neonatal mucolipidosis 2. The spontaneous evolution of early bone lesions and the effect of vitamin D treatment. Report of two cases. Pediatr Radiol (1989) 0.90
Efficient signal transduction by a chimeric yeast-mammalian G protein alpha subunit Gpa1-Gsalpha covalently fused to the yeast receptor Ste2. EMBO J (1997) 0.90
Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia. J Med Genet (2004) 0.90
Gluthatione level is altered in lymphoblasts from patients with familial Alzheimer's disease. Neurosci Lett (1999) 0.90
D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p). Hum Genet (1993) 0.89
Optimization of the P'-region of peptide inhibitors of hepatitis C virus NS3/4A protease. Biochemistry (2000) 0.89
Alternate centromere inactivation in a pseudodicentric (15;20)(pter;pter) associated with a progressive neurological disorder. J Med Genet (1989) 0.88
The role of aliphatic alcohols on the stability of collagen and tropocollagen. J Biol Chem (1970) 0.88
Deletion of specific sequences or modification of centromeric chromatin are responsible for Y chromosome centromere inactivation. Hum Genet (1990) 0.88
The gene for human peptidase A is on band 18q23 and shows triplex and uniplex dosage effect. Hum Genet (1978) 0.88
Effects of acylphosphatase on the activity of erythrocyte membrane Ca2+ pump. J Biol Chem (1991) 0.88
Fecal chymotrypsin: a new diagnostic test for exocrine pancreatic insufficiency in children with cystic fibrosis. Clin Biochem (1985) 0.87
Control of the citric acid cycle by glyoxylate. The mechanism of inhibition of oxoglutarate dehydrogenase, isocitrate dehydrogenase and aconitate hydratase. Biochem J (1969) 0.87
Bone changes of mucolipidosis II at different ages. Postmortem study of three cases. Clin Orthop Relat Res (1992) 0.87
Interdependence of thymic and neuroendocrine functions in ontogeny. Clin Exp Immunol (1976) 0.86
Plasma and urine pharmacokinetics of free and of short-chain carnitine after administration of carnitine in man. Arzneimittelforschung (1988) 0.86
Blood p50 evaluation enhances diagnostic definition of isolated erythrocytosis. J Intern Med (2008) 0.86
Stimulation of cardiac sarcoplasmic reticulum calcium pump by acylphosphatase. Relationship to phospholamban phosphorylation. J Biol Chem (1996) 0.85
Metabolic effects of successful intraportal islet transplantation in insulin-dependent diabetes mellitus. J Clin Invest (1996) 0.85
A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity. J Med Genet (1997) 0.85
Tumor inhibitory agent from Magnolia grandiflora (Magnoliaceae). I. Parthenolide. J Pharm Sci (1973) 0.85
Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth. Am J Hum Genet (1991) 0.85
Interphase cytogenetics of the ICF syndrome. Ann Hum Genet (1992) 0.85