Published in Am J Med Genet on September 01, 1998
Origin-dependent inverted-repeat amplification: a replication-based model for generating palindromic amplicons. PLoS Genet (2011) 1.04
Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization. Hum Genet (2012) 0.94
Fatigue, retention of action current and recovery in crustacean nerve. J Physiol (1927) 18.06
Chronic kidney disease as a global public health problem: approaches and initiatives - a position statement from Kidney Disease Improving Global Outcomes. Kidney Int (2007) 7.75
HLA and insulin gene associations with IDDM. Genet Epidemiol (1989) 6.53
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nat Genet (2001) 4.58
The effects of frequent nocturnal home hemodialysis: the Frequent Hemodialysis Network Nocturnal Trial. Kidney Int (2011) 4.27
Bullying in schools: self reported anxiety, depression, and self esteem in secondary school children. BMJ (1998) 4.14
Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data. Am J Med Genet (1999) 3.82
A genome-wide search for quantitative trait loci underlying asthma. Nature (1996) 3.58
Copper staining: a five-minute protein stain for sodium dodecyl sulfate-polyacrylamide gels. Anal Biochem (1987) 3.28
Genetic heterogeneity, modes of inheritance, and risk estimates for a joint study of Caucasians with insulin-dependent diabetes mellitus. Am J Hum Genet (1988) 2.88
Genes for immunoglobulin heavy chains and for alpha 1-antitrypsin are localized to specific regions of chromosome 14q. Nature (1982) 2.75
Axis I comorbidity of borderline personality disorder. Am J Psychiatry (1998) 2.71
Prevalence of psychiatric disorders in young people in the care system. BMJ (1996) 2.67
Reported pathological childhood experiences associated with the development of borderline personality disorder. Am J Psychiatry (1997) 2.67
A model of airway narrowing in asthma and in chronic obstructive pulmonary disease. Am Rev Respir Dis (1992) 2.67
FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome. Am J Med Genet (1998) 2.56
Guidance for contained field trials of vector mosquitoes engineered to contain a gene drive system: recommendations of a scientific working group. Vector Borne Zoonotic Dis (2008) 2.49
Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13. Hum Genet (1992) 2.41
Elevated levels of serum creatinine: recommendations for management and referral. CMAJ (1999) 2.40
Obstacles to residents' conducting research and predictors of publication. Acad Med (2001) 2.25
A comparison of the distribution of intestinal bacteria in British and East African water sources. J Appl Bacteriol (1973) 2.23
The structure of large and small airways in nonfatal and fatal asthma. Am Rev Respir Dis (1993) 2.23
Evidence for different subgroups of difficult asthma in children. Thorax (2001) 2.22
Should euthanasia be legal? An international survey of neonatal intensive care units staff. Arch Dis Child Fetal Neonatal Ed (2004) 2.21
Impaired macrophage phagocytosis in non-eosinophilic asthma. Clin Exp Allergy (2013) 2.21
Exhaled carbon monoxide in childhood asthma. J Pediatr (1999) 2.19
Treatment choices for extremely preterm infants: an international perspective. J Pediatr (2000) 2.19
Hair concentrations of nicotine and cotinine in women and their newborn infants. JAMA (1994) 2.18
Evidence for multi-site closure of the neural tube in humans. Am J Med Genet (1993) 2.16
Decreased placental methylation at the H19/IGF2 imprinting control region is associated with normotensive intrauterine growth restriction but not preeclampsia. Placenta (2010) 2.09
Mutations in CDMP1 cause autosomal dominant brachydactyly type C. Nat Genet (1997) 2.06
First acute haemodynamic study of soluble guanylate cyclase stimulator riociguat in pulmonary hypertension. Eur Respir J (2009) 2.04
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet (2001) 2.02
Congenital megalourethra: prenatal diagnosis and postnatal/autopsy findings in 10 cases. Ultrasound Obstet Gynecol (2011) 2.01
Experimental verocytotoxemia in rabbits. Infect Immun (1992) 1.94
Prenatally diagnosed neural tube defects: ultrasound, chromosome, and autopsy or postnatal findings in 212 cases. Am J Med Genet (1998) 1.94
An analysis of allelic variation in the ABCA4 gene. Invest Ophthalmol Vis Sci (2001) 1.90
Mutation analysis of 3 genes in patients with Leber congenital amaurosis. Arch Ophthalmol (2000) 1.89
Evidence for heterosexual transmission and clinical manifestations of human immunodeficiency virus infection and related conditions in Lusaka, Zambia. Lancet (1986) 1.80
Grading evidence and recommendations for clinical practice guidelines in nephrology. A position statement from Kidney Disease: Improving Global Outcomes (KDIGO). Kidney Int (2006) 1.79
Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. Am J Hum Genet (1995) 1.78
Birth defects after maternal exposure to corticosteroids: prospective cohort study and meta-analysis of epidemiological studies. Teratology (2000) 1.78
Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype? Am J Med Genet (1994) 1.76
CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. Hum Mol Genet (1999) 1.72
Stereotactic radiosurgery for glioblastoma multiforme: report of a prospective study evaluating prognostic factors and analyzing long-term survival advantage. Int J Radiat Oncol Biol Phys (1994) 1.68
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. Nat Genet (1999) 1.67
Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. Hum Mol Genet (1995) 1.65
Decline in lung function and mortality: the Busselton Health Study. J Epidemiol Community Health (1999) 1.61
Comparative experience of a simple technique for laparoscopic chronic ambulatory peritoneal dialysis catheter placement. Aust N Z J Surg (1998) 1.61
Client Oriented Scale of Improvement (COSI) and its relationship to several other measures of benefit and satisfaction provided by hearing aids. J Am Acad Audiol (1997) 1.59
Optimal positioning of endotracheal tubes for ventilation of preterm infants. Am J Dis Child (1991) 1.57
Cardiac risk factors and the use of cardioprotective medications in patients with chronic renal insufficiency. Am J Kidney Dis (2001) 1.57
Maternal uniparental disomy of chromosome 1 with no apparent phenotypic effects. Am J Hum Genet (1998) 1.57
Study of the mass and spin-parity of the Higgs boson candidate via its decays to Z boson pairs. Phys Rev Lett (2013) 1.56
Cytogenetic analysis of miscarriages from couples with recurrent miscarriage: a case-control study. Hum Reprod (2002) 1.55
Tibial hemimelia and tetralogy of Fallot associated with first trimester exposure to amantadine. Reprod Toxicol (1994) 1.52
Neonatal end-of-life decision making: Physicians' attitudes and relationship with self-reported practices in 10 European countries. JAMA (2000) 1.49
Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients. Hum Mol Genet (1993) 1.49
Trisomy 18 score: a rapid, reliable diagnostic test for trisomy 18. J Pediatr (1988) 1.48
Abnormal ocular enhancement in Sturge-Weber syndrome: correlation of ocular MR and CT findings with clinical and intracranial imaging findings. AJNR Am J Neuroradiol (1996) 1.48
Effect of hemoglobin levels in hemodialysis patients with asymptomatic cardiomyopathy. Kidney Int (2000) 1.48
Gastric-outlet obstruction induced by prostaglandin therapy in neonates. N Engl J Med (1992) 1.47
Diffuse infantile haemangiomatosis: clinicopathological features and management problems in five fatal cases. Eur J Pediatr (1991) 1.47
HLA matching and corneal grafting. Lancet (1976) 1.46
The economics of home nocturnal hemodialysis: how should we cost the benefits? Clin Nephrol (2007) 1.45
Prevalence and severity of disordered mineral metabolism in Blacks with chronic kidney disease. Kidney Int (2008) 1.44
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). Am J Med Genet A (2008) 1.44
Intrachromosomal triplication of 15q11-q13. J Med Genet (1994) 1.43
Syndrome of proximal interstitial deletion 4p15: report of three cases and review of the literature. Am J Med Genet (1995) 1.40
beta2-Adrenergic receptor haplotypes in mild, moderate and fatal/near fatal asthma. Am J Respir Crit Care Med (1998) 1.40
Percivall Pott. Arch Pathol Lab Med (1999) 1.39
Genetic homogeneity of cartilage-hair hypoplasia. Hum Genet (1995) 1.39
Activities of daily living capabilities and values of long-term-care facility residents. Am J Occup Ther (1994) 1.38
Phenotype of maternal UPD(14) Am J Med Genet (1996) 1.38
The dynamics of X-inactivation skewing as women age. Clin Genet (2004) 1.37
The legacy of Robert Koch. Arch Pathol Lab Med (2001) 1.37
Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients. Neurology (1996) 1.36
The distribution of eosinophils and lymphocytes in the large and small airways of asthmatics. Eur Respir J (1997) 1.36
The 13q- syndrome: the molecular definition of a critical deletion region in band 13q32. Am J Hum Genet (1995) 1.36
Optimal foraging: Lévy pattern or process? J R Soc Interface (2008) 1.35
Axis II comorbidity of borderline personality disorder. Compr Psychiatry (1998) 1.34
Screening for renal disease using serum creatinine: who are we missing? Nephrol Dial Transplant (2001) 1.32
Early-infantile galactosialidosis: prenatal presentation and postnatal follow-up. Am J Med Genet (1999) 1.31
Barth syndrome: clinical observations and genetic linkage studies. Am J Med Genet (1994) 1.31
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. J Med Genet (2009) 1.31
Juvenile myelomonocytic leukemia and Noonan syndrome. J Pediatr Hematol Oncol (2000) 1.30
Nuclear magnetic resonance (NMR) imaging in white matter disease of the brain using spin-echo sequences. J Comput Assist Tomogr (1983) 1.30
Evaluating DNA methylation and gene expression variability in the human term placenta. Placenta (2010) 1.30
The mutational spectrum of human malignant autosomal recessive osteopetrosis. Hum Mol Genet (2001) 1.29
Phenotype of triploid embryos. J Med Genet (2005) 1.27
Extracellular matrix components and regulators in the airway smooth muscle in asthma. Eur Respir J (2008) 1.26
Placental size and the prediction of severe early-onset intrauterine growth restriction in women with low pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol (2009) 1.26
The causes and consequences of random and non-random X chromosome inactivation in humans. Clin Genet (2000) 1.24
Kaposi's sarcoma herpes virus and Kaposi's sarcoma in the elderly populations of 3 Mediterranean islands. Int J Cancer (2001) 1.24
Comparative mortality of hemodialysis and peritoneal dialysis in Canada. Kidney Int (2000) 1.24
Airway structure and inflammatory cells in fatal attacks of asthma. Eur Respir J (1996) 1.23
Clinical practice guidelines for managing dyslipidemias in kidney transplant patients: a report from the Managing Dyslipidemias in Chronic Kidney Disease Work Group of the National Kidney Foundation Kidney Disease Outcomes Quality Initiative. Am J Transplant (2004) 1.23
Development of anaplastic changes in low-grade astrocytomas of childhood. Neurosurgery (1994) 1.22