Published in J Pediatr on July 01, 1987
Infantile spasms: little seizures, BIG consequences. Epilepsy Curr (2006) 0.99
Current trends in the treatment of infantile spasms. Neuropsychiatr Dis Treat (2009) 0.82
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet (1998) 4.89
Efficacy of traditional Chinese herbal therapy in adult atopic dermatitis. Lancet (1992) 4.75
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet (2008) 3.87
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet (1998) 2.51
Vagus nerve stimulation therapy for partial-onset seizures: a randomized active-control trial. Neurology (1998) 2.32
Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1) Pediatrics (1999) 2.05
GM2 ganglioside lysosomal storage disease in cats with beta-hexosaminidase deficiency. Science (1977) 1.65
Neurological effects associated with use of the insect repellent N,N-diethyl-m-toluamide (DEET). J Toxicol Clin Toxicol (1997) 1.61
Antibiotic treatment of parturient women colonized with group B streptococci. Am J Obstet Gynecol (1976) 1.60
Paediatric oncology information pack for general practitioners. Br Med J (Clin Res Ed) (1988) 1.49
Intoxication following ingestion of elemental zinc. JAMA (1970) 1.48
Natal teeth, patent ductus arteriosus and intestinal pseudo-obstruction: a lethal syndrome in the newborn. Clin Genet (1976) 1.48
U.K. deep diving trials. Philos Trans R Soc Lond B Biol Sci (1984) 1.43
Re: Suicide in old age. Can J Psychiatry (1996) 1.39
Letter to the editor: PDGRE: a computer program to graph human pedigrees. Am J Hum Genet (1976) 1.38
Additional data on the population distribution of human serum albumin genes; three new variants. Ann Hum Genet (1973) 1.35
Detailed analysis of structures and formulations of cationic lipids for efficient gene transfer to the lung. Hum Gene Ther (1996) 1.23
Identification of a dominant negative homeodomain mutation in Rieger syndrome. J Biol Chem (2001) 1.21
Dominantly inherited macular dystrophy with flecks (Stargardt). Arch Ophthalmol (1980) 1.21
Asymptomatic hyperammonemia in patients receiving valproic acid. Arch Neurol (1982) 1.19
Evidence for a distinct region causing a cat-like cry in patients with 5p deletions. Am J Hum Genet (1995) 1.13
The effects of dystrophin gene mutations on the ERG in mice and humans. Invest Ophthalmol Vis Sci (1993) 1.13
Enteroviruses associated with the hemolytic-uremic syndrome. Pediatrics (1970) 1.12
Gluteal fold flaps for perineal reconstruction. J Plast Reconstr Aesthet Surg (2012) 1.09
Parental trisomy 21 mosaicism. Am J Hum Genet (1982) 1.06
Retinal signal transmission in Duchenne muscular dystrophy: evidence for dysfunction in the photoreceptor/depolarizing bipolar cell pathway. J Clin Invest (1994) 1.05
Basis of pulmonary toxicity associated with cationic lipid-mediated gene transfer to the mammalian lung. Hum Gene Ther (1997) 1.02
Encephalopathy following measles infection in children with chronic illness. J Pediatr (1976) 0.98
Ancient introgression of Lepus timidus mtDNA into L. granatensis and L. europaeus in the Iberian Peninsula. Mol Phylogenet Evol (2003) 0.97
Partial correction of defective Cl(-) secretion in cystic fibrosis epithelial cells by an analog of squalamine. Am J Physiol Lung Cell Mol Physiol (2001) 0.96
Lenticular opacities in carriers of Lowe's syndrome. Ophthalmology (1986) 0.96
The monophyletic origin of freshwater crayfish estimated from nuclear and mitochondrial DNA sequences. Proc Biol Sci (2000) 0.95
P-1 lysogeny and bacterial conjugation. J Bacteriol (1966) 0.95
Congenital ptosis. Results of treatment using lyophilized fascia lata for frontalis suspensions. Ophthalmology (1982) 0.95
Vagal nerve stimulation in tuberous sclerosis complex patients. Pediatr Neurol (2001) 0.95
Corneal keloid in Lowe's syndrome. Arch Ophthalmol (1982) 0.94
Contrasting patterns of population subdivision and historical demography in three western Mediterranean lizard species inferred from mitochondrial DNA variation. Mol Ecol (2007) 0.94
Familial presacral teratomas. Birth Defects Orig Artic Ser (1975) 0.94
Propionic acidemia: a clinical update. J Pediatr (1981) 0.94
A psychiatric study of patients with persistent low back pain. Rheumatol Rehabil (1979) 0.94
Confirmation of trisomy 22 by trypsin-giemsa staining. J Med Genet (1976) 0.93
Hemangiopericytoma of the spinal canal. Report of three cases. J Neurosurg (1978) 0.93
Comparison of valproic acid and phenytoin in newly diagnosed tonic-clonic seizures. Neurology (1983) 0.92
Altitude retinopathy on Mount Everest, 1989. Ophthalmology (1992) 0.92
When selection deceives phylogeographic interpretation: the case of the Mediterranean house gecko, Hemidactylus turcicus (Linnaeus, 1758). Mol Phylogenet Evol (2010) 0.92
Cytogenetic analysis of a boy with the XXXY syndrome: origin of the X-chromosomes. Pediatrics (1970) 0.92
Conflicting patterns of nucleotide diversity between mtDNA and nDNA in the Moorish gecko, Tarentola mauritanica. Mol Phylogenet Evol (2010) 0.91
Developmental changes in the mother-child interactions of hyperactive boys: effects of two dose levels of Ritalin. J Child Psychol Psychiatry (1985) 0.90
Kawasaki-like syndrome caused by carbamazepine. Pediatr Infect Dis J (1988) 0.90
Viruses and disease. 3. An outbreak of adenovirus type 7A in a children's home. Am J Epidemiol (1971) 0.90
Adrenoleukodystrophy: effects of dietary restriction of very long chain fatty acids and of administration of carnitine and clofibrate on clinical status and plasma fatty acids. Johns Hopkins Med J (1982) 0.90
Sequential treatment of giant basal cell carcinomas. J Plast Reconstr Aesthet Surg (2008) 0.90
Staphylococcal colonization in a newborn nursery, 1971--1976. Am J Epidemiol (1979) 0.89
Multigene phylogeny of Malagasy day geckos of the genus Phelsuma. Mol Phylogenet Evol (2009) 0.89
Discordance for the Kleeblattschädel anomaly in monozygotic twins with thanatophoric dysplasia. Am J Med Genet (1983) 0.89
Metabolic and histologic investigation of the nature of nephrocalcinosis in children with hypophosphatemic rickets and in the Hyp mouse. J Pediatr (1992) 0.88
Monozygotic twins with the Turner syndrome. Am J Obstet Gynecol (1972) 0.87
Adverse events associated with the use of insect repellents containing N,N-diethyl-m-toluamide (DEET). Regul Toxicol Pharmacol (2009) 0.87
Autosomal dominant inheritance of a negative electroretinogram phenotype in three generations. Am J Ophthalmol (2001) 0.87
Reproductive risk of t(13q14q) carriers: case report and review. Am J Med Genet (1979) 0.86
Eating disturbances in women of color: an exploratory study of contextual factors in the development of disordered eating in Mexican American women. Health Care Women Int (2002) 0.86
Effects of age and Ritalin dosage on the mother-child interactions of hyperactive children. J Consult Clin Psychol (1984) 0.85
Subacute necrotizing encephalomyelopathy (Leigh's disease): detection of the heterozygous carrier state. Pediatrics (1973) 0.85
A deletion polymorphism due to Alu-Alu recombination in intron 2 of the retinoblastoma gene: association with human gliomas. Mol Carcinog (1997) 0.85
Posterior keratoconus. Case report with scanning electron microscopy. Cornea (1995) 0.85
Optimization of formulations and conditions for the aerosol delivery of functional cationic lipid:DNA complexes. Hum Gene Ther (1997) 0.85
Structure and evolution of the mitochondrial DNA complete control region in the Drosophila subobscura subgroup. Insect Mol Biol (2001) 0.84
Valproic acid associated abnormalities of carnitine metabolism. Lancet (1985) 0.84
Effect of human cerebral neuraminidase on hexosaminidase A. Clin Chim Acta (1974) 0.84
Relationships of scincid lizards (Mabuya spp; Reptilia: Scincidae) from the Cape Verde islands based on mitochondrial and nuclear DNA sequences. Mol Phylogenet Evol (2001) 0.83
Holoprosencephaly and endocrine dysgenesis in brothers. Am J Med Genet (1980) 0.83
Ultrasound for genetic counselling in polycystic kidney disease. Lancet (1977) 0.83
Permanent genetic resources added to Molecular Ecology Resources Database 1 December 2011-31 January 2012. Mol Ecol Resour (2012) 0.82
Left vagus nerve stimulation in children with refractory epilepsy: an update. South Med J (1997) 0.82
Letter: CT scans and tuberous sclerosis. JAMA (1976) 0.82
Waardenburg syndrome and meningocele. Am J Med Genet (1992) 0.82
An ivory vertebra: monostotic Paget's disease of bone. Clin Orthop Relat Res (1978) 0.81
Viruses and disease. II. An outbreak of parainfluenza Type 2 in a children's home. Am J Epidemiol (1968) 0.81
Contribution of cobalamin analogues to plasma vitamin B12 concentrations in cattle. Res Vet Sci (1984) 0.81
Molecular screening of nematodes in lacertid lizards from the Iberian Peninsula and Balearic Islands using 18S rRNA sequences. J Helminthol (2012) 0.81
[How accurate is the roentgen diagnosis of acute appendicitis in children]. Ann Radiol (Paris) (1976) 0.81
Familial congenital superior oblique palsy. Ophthalmology (1986) 0.81
Death following breath holding in an adolescent. Am J Dis Child (1981) 0.80
Observations on the knee-jerk reflex in oxygen-helium at 31 and 43 bars. Undersea Biomed Res (1979) 0.80
Cyst of the cavum septi pellucidi. Arch Neurol (1972) 0.80
Multiple glycosidase deficiencies in a case of juvenile (type 3) Gaucher disease. Proc Natl Acad Sci U S A (1978) 0.80
Permanent genetic resources added to molecular ecology resources database 1 December 2012-31 January 2013. Mol Ecol Resour (2013) 0.80
Evidence for genetic similarity of two allopatric European hares (Lepus corsicanus and L. castroviejoi) inferred from nuclear DNA sequences. Mol Phylogenet Evol (2007) 0.79
Neuromyelitis optica (Devic disease) following varicella infection. J Pediatr (1979) 0.79
Efficacy of recommended therapeutic regimens in Leigh's disease. Dev Med Child Neurol (1974) 0.79
Profile of a battered fetus. Lancet (1981) 0.79
Autosomal recessive form of connatal Pelizaeus-Merzbacher disease. Am J Med Genet (1989) 0.79
Dysautonomia in an infant with secondary hyperammonemia due to propionyl coenzyme A carboxylase deficiency. Pediatrics (1980) 0.78
Prevalence of divorce among parents of children with cystic fibrosis and other chronic diseases. Soc Biol (1976) 0.78
Infantile quadriceps-femoris contracture resulting from intramuscular injections. N Engl J Med (1970) 0.78
Heterozygote detection in Fabry disease utilizing multiple enzyme activities. Am J Med Genet (1981) 0.78
Mucolipidosis I (acid neuraminidase deficiency). Three cases and delineation of the variability of the phenotype. Am J Dis Child (1981) 0.78
Acute toxicity of the major alkaloids of cultivated Lupinus angustifolius seed to rats. J Appl Toxicol (1987) 0.78
Deep evolutionary lineages in a Western Mediterranean snake (Vipera latastei/monticola group) and high genetic structuring in Southern Iberian populations. Mol Phylogenet Evol (2012) 0.78