Published in Hum Genet on August 01, 2000
Human transcription elongation factor NELF: identification of novel subunits and reconstitution of the functionally active complex. Mol Cell Biol (2003) 2.21
Lessons learned from the initial sequencing of the pig genome: comparative analysis of an 8 Mb region of pig chromosome 17. Genome Biol (2007) 1.45
A comprehensive transcript map of the mouse Gnas imprinted complex. Genome Res (2003) 1.32
Novel gene expression patterns along the proximo-distal axis of the mouse embryo before gastrulation. BMC Dev Biol (2007) 1.05
Trihydrophobin 1 Interacts with PAK1 and Regulates ERK/MAPK Activation and Cell Migration. J Biol Chem (2009) 0.98
The clinical significance of small copy number variants in neurodevelopmental disorders. J Med Genet (2014) 0.93
Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus. Am J Med Genet A (2010) 0.81
Trihydrophobin 1 phosphorylation by c-Src regulates MAPK/ERK signaling and cell migration. PLoS One (2012) 0.76
The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins. Proc Natl Acad Sci U S A (1998) 2.50
Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins. Proc Natl Acad Sci U S A (1998) 2.41
The cloning and nucleotide sequence of cDNA for an amplified glutamine synthetase gene from the Chinese hamster. Nucleic Acids Res (1986) 1.95
The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts. J Med Genet (2005) 1.59
Heterogeneity analysis in 40 X-linked retinitis pigmentosa families. Am J Hum Genet (1994) 1.38
Favorable long-term outcome after liver-kidney transplant for recurrent hemolytic uremic syndrome associated with a factor H mutation. Am J Transplant (2006) 1.37
A novel atypical 22q11.2 distal deletion in father and son. J Med Genet (2002) 1.27
Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-p22.2. J Med Genet (1998) 1.27
Cyclophosphamide treatment of mouse systemic lupus erythematosus. Lab Invest (1969) 1.25
Tissue-specific expression of antisense and sense transcripts at the imprinted Gnas locus. Genomics (2000) 1.16
The normal population distribution of PRNP codon 129 polymorphism. Acta Neurol Scand (2003) 1.13
Effect of diet on survival and nephropathy of NZB-NZW hybrid mice. Biochem Med (1973) 1.04
Both isoforms of ketohexokinase are dispensable for normal growth and development. Physiol Genomics (2010) 0.97
Small inclusions in the cytoplasm of leukocytes in LE cell tests. J Rheumatol (1978) 0.95
Amplification of the ancient murine Lx family of long interspersed repeated DNA occurred during the murine radiation. J Mol Evol (1994) 0.95
Population screening for fragile-X syndrome. Lancet (1993) 0.94
Confirmation of prenatal diagnosis of cystic fibrosis by DNA typing of fetal tissues. J Med Genet (1988) 0.90
Successful renal transplantation in factor H autoantibody associated HUS with CFHR1 and 3 deficiency and CFH variant G2850T. Am J Transplant (2009) 0.88
Meckel's diverticulitis secondary to an enterolith. Eur J Radiol (1995) 0.85
Structure and mutation analysis of the gene encoding DNA fragmentation factor 40 (caspase-activated nuclease), a candidate neuroblastoma tumour suppressor gene. Hum Genet (2000) 0.85
Neurogenic chronic idiopathic intestinal pseudo-obstruction, patent ductus arteriosus, and thrombocytopenia segregating as an X linked recessive disorder. J Med Genet (1997) 0.82
Platelet-density analysis and intraplatelet granule content in young insulin-dependent diabetics. Diabetes (1986) 0.81
Discordant segregation of Xq28 markers and a mutation in the L1 gene in a family with X linked hydrocephalus. J Med Genet (1996) 0.81
Postpartum aHUS secondary to a genetic abnormality in factor H acquired through liver transplantation. Am J Transplant (2012) 0.79
Preceptor program evaluation demonstrates improved orientation. J Nurs Staff Dev (1989) 0.79
Fragile X syndrome with FMR1 and FMR2 deletion. J Med Genet (1999) 0.79
The development of atypical hemolytic uremic syndrome is not influenced by thrombophilia susceptibility factors. J Thromb Haemost (2005) 0.78
L.E. cells after oral contraceptives. Lancet (1968) 0.78
X-ray diagnosis of macrodystrophia lipomatosa. Br J Radiol (1984) 0.77
Giant cell astrocytoma in tuberous sclerosis: computed tomographic findings. Clin Radiol (1986) 0.77
Failure of procainamide to induce a systemic lupus erythematosus-like disease in animals. Toxicol Appl Pharmacol (1972) 0.76
Inherited prion disease with A117V mutation of the prion protein gene: a novel Hungarian family. J Neurol Neurosurg Psychiatry (2001) 0.76
Prenatal diagnosis of X-linked hydrocephalus. Prenat Diagn (1994) 0.76
Risk calculation in retinitis pigmentosa. Am J Hum Genet (1991) 0.75
PMS2 mutations in childhood cancer. Gut (2005) 0.75
PMS2 mutations in HNPCC. Clin Genet (2004) 0.75
Complete non-traumatic intravasation of myelographic contrast medium. Clin Radiol (1985) 0.75
Therapy with FK 506 in pediatric liver recipients. Transplant Proc (1994) 0.75
The genes encoding glucokinase regulatory protein and ketohexokinase co-localize to mouse chromosome 5. Mamm Genome (1997) 0.75
Study of comparison of independent learning activities vs. attendance at staff development by staff nurses. J Contin Educ Nurs (1977) 0.75
Conversion to tacrolimus to ameliorate cyclosporine toxicity in kidney recipients. Transplant Proc (1998) 0.75
Continuing education approval program: interrater reliability. J Contin Educ Nurs (1987) 0.75
Reliability of a single beta-thromboglobulin measurement in a diabetic population: importance of PGE1 in anticoagulant mixture. Damad Study Group. Thromb Haemost (1987) 0.75
Prenatal diagnosis of cystic fibrosis where single affected child has died: Guthrie spots and microvillar enzyme testing. Lancet (1988) 0.75
First-trimester prenatal diagnosis of cystic fibrosis using fibroblasts from a deceased index child to establish haplotypes. Prenat Diagn (1988) 0.75
Genotyping of cystic fibrosis families with linked DNA probes. Clin Genet (1988) 0.75
Comparison of LE cell tests. JAMA (1973) 0.75
Open letter to educators: 'Refuse to train RCTs'. Am Nurse (1989) 0.75
Ultrasound of intrascrotal calculi. Eur J Radiol (1995) 0.75
Notes on continuing education: individualizing the orientation of staff nurses. J Contin Educ Nurs (1980) 0.75
Acute fatty liver of pregnancy: CT evaluation. Case report. Eur J Radiol (1988) 0.75
Notes on continuing education: policies of the staff development department. J Contin Educ Nurs (1982) 0.75
Letter: SLE latex test kit. JAMA (1974) 0.75
Congenital macrodactyly. Ir J Med Sci (1987) 0.75
[Acute fatty liver of pregnancy. Apropos of 4 cases: contribution of x-ray computed tomography]. J Radiol (1987) 0.75
[Tomographic study of the intra-abdominal digestive tract. Contributions of percutaneous echography and scanner in daily practice]. J Radiol (1996) 0.75