Published in Adv Pediatr on January 01, 1974
Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet (2001) 3.27
Familial dysautonomia is caused by mutations of the IKAP gene. Am J Hum Genet (2001) 2.67
Correction of characteristic abnormalities of microtubule function and granule morphology in Chediak-Higashi syndrome with cholinergic agonists. J Clin Invest (1976) 1.62
Familial dysautonomia (Riley-Day syndrome). CMAJ (1989) 1.39
Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31. Am J Hum Genet (1999) 1.30
Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia. Am J Hum Genet (2003) 1.26
A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect. Genomics (2007) 1.08
Operation for gastro-oesophageal reflux associated with severe mental retardation. Arch Dis Child (1993) 1.02
Deletion of exon 20 of the Familial Dysautonomia gene Ikbkap in mice causes developmental delay, cardiovascular defects, and early embryonic lethality. PLoS One (2011) 0.95
A world without pain or tears. Clin Auton Res (2006) 0.94
IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia. Hum Mol Genet (2012) 0.93
Quantitative sensory testing of thermal and vibratory perception in familial dysautonomia. Clin Auton Res (2000) 0.89
Dermal microdialysis provides evidence for hypersensitivity to noradrenaline in patients with familial dysautonomia. J Neurol Neurosurg Psychiatry (2002) 0.86
Electrocardiographic repolarization abnormalities in familial dysautonomia: an indicator of cardiac autonomic dysfunction. Clin Auton Res (1999) 0.83
Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia. Hum Mol Genet (2016) 0.82
Highly abnormal thermotests in familial dysautonomia suggest increased cardiac autonomic risk. J Neurol Neurosurg Psychiatry (1998) 0.81
Anesthetic management of renal transplantation in a patient with familial dysautonomia. J Anesth (2009) 0.81
Sudomotor function in familial dysautonomia. J Neurol Neurosurg Psychiatry (2004) 0.81
Assessing microcirculation in familial dysautonomia by laser Doppler flowmeter. Clin Auton Res (1998) 0.80
Sympathetic skin response following thermal, electrical, acoustic, and inspiratory gasp stimulation in familial dysautonomia patients and healthy persons. Clin Auton Res (1999) 0.78
24-hour ambulatory blood pressure monitoring in children with familial dysautonomia. Pediatr Nephrol (2005) 0.77
Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet (2001) 3.27
The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease. Am J Hum Genet (1976) 2.51
Transfer across the perfused human placenta of antipyrine, sodium and leucine. Am J Obstet Gynecol (1972) 1.98
Quantitative studies of dorsal root ganglia and neuropathologic observations on spinal cords in familial dysautonomia. J Neurol Sci (1978) 1.87
Familial hyperlysinemia with lysine-ketoglutarate reductase insufficiency. J Clin Invest (1969) 1.65
Conversion of lysine to saccharopine by human tissues. Biochim Biophys Acta (1968) 1.58
Communication between normal and enzyme deficient cells in tissue culture. Exp Cell Res (1972) 1.57
Fetal homeostasis in maternal malnutrition: potassium and sodium deficiency in rats. Pediatr Res (1970) 1.54
Further studies of hyperlysinemia. Am J Dis Child (1966) 1.52
Elevated AMP pyrophosphorylase activity in congenital IMP pyrophosphorylase deficiencey (Lesch-Nyhan disease). J Lab Clin Med (1969) 1.40
Transfer of cocaine by the perfused human placenta: the effect of binding to serum proteins. Am J Obstet Gynecol (1993) 1.39
Absence of mosaicism in the lymphocyte in X-linked congenital hyperuricosuria. Life Sci (1968) 1.38
Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis. Nat Genet (1993) 1.36
Purification of IMP:pyrophosphate phosphoribosyltransferases, catalytically incompetent enzymes in Lesch-Nyhan disease. Proc Natl Acad Sci U S A (1971) 1.36
Transfer of zidovudine (AZT) by human placenta. J Infect Dis (1990) 1.35
Structural gene for beta-nerve growth factor not defective in familial dysautonomia. Proc Natl Acad Sci U S A (1984) 1.32
Trophic functions of the neuron. V. Familial dysautonomis. Current concepts of dysautonomia: neuropathological defects. Ann N Y Acad Sci (1974) 1.31
Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31. Am J Hum Genet (1999) 1.30
Evidence for transfer of enzyme product as the basis of metabolic cooperation between tissue culture fibroblasts of Lesch-Nyhan disease and normal cells. Proc Natl Acad Sci U S A (1970) 1.27
Saccharopine cleavage by a dehydrogenase of human liver. Biochim Biophys Acta (1970) 1.22
Complementation analysis of maple syrup urine disease in heterokaryons derived from cultured human fibroblasts. Nature (1973) 1.21
Congenital sensory neuropathies. Diagnostic distinction from familial dysautonomia. Am J Dis Child (1984) 1.19
Detection of heterozygote in Lesch-Nyhan disease by hair-root analysis. N Engl J Med (1972) 1.17
Zellweger syndrome: biochemical and morphological studies on two patients treated with clofibrate. Pediatr Res (1985) 1.16
Quantitative thermal perception testing in adults. J Clin Neurophysiol (1999) 1.12
Absence of acid maltase in glycogenesis type 2(Pompe's disease) in tissue culture. Am J Dis Child (1969) 1.12
Familial dysautonomia. N Engl J Med (1966) 1.12
Intermittent branched-chain ketonuria. Variant of maple-syrup-urine disease. N Engl J Med (1967) 1.11
Multiple enzyme defects in familial hyperlysinemia. Pediatr Res (1976) 1.09
Enzyme activity in classical and variant forms of maple syrup urine disease. J Pediatr (1972) 1.08
Metabolic cooperation in cell culture: studies of the mechanisms of cell interaction. J Cell Physiol (1974) 1.06
Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31. Genomics (1999) 1.06
Patient care, resident stress, and government regulation. Am J Dis Child (1989) 1.06
The sural nerve in familial dysautonomia. J Neuropathol Exp Neurol (1975) 1.06
Developmental abnormalities, blood pressure variability and renal disease in Riley Day syndrome. J Hum Hypertens (2011) 1.05
Normative values of vibratory perception in 530 children, juveniles and adults aged 3-79 years. J Neurol Sci (1998) 1.04
The prognosis of hyperlysinemia: an interim report. Am J Hum Genet (1983) 1.03
Progressive sensory loss in familial dysautonomia. Pediatrics (1981) 1.03
Transfer of amino acids across the in vitro perfused human placenta. Pediatr Res (1979) 1.02
Increased nerve-growth-stimulating activity in disseminated neurofibromatosis. N Engl J Med (1974) 1.01
Disparate enzyme activity in erythocytes and leukocytes. A variant of hypoxanthine phosphoribosyl-transferase deficiency with an unstable enzyme. J Clin Invest (1973) 0.99
Changes in human serum dopamine- -hydroxylase activity with age. Nature (1972) 0.98
Urinary metabolites in congenital hyperuricosuria. Science (1967) 0.98
Cloning, genomic organization and expression of a putative human transmembrane protein related to the Caenorhabditis elegans M01F1.4 gene. Gene (1999) 0.97
Rarity of X-linked partial hypoxanthine-guanine phosphoribosyltransferase deficiency in a large gouty population. Ann Intern Med (1972) 0.97
Variant maple syrup urine disease in mother and daughter. Can Med Assoc J (1973) 0.96
Transfer of lipids across the guinea pig placenta. Am J Obstet Gynecol (1969) 0.95
Fate of intra-amniotically administered oestriol-15-3H-3-sulphate and oestriol-16-14C-16-glucosiduronate in pregnant women at midterm. Acta Endocrinol (Copenh) (1966) 0.94
The effect of hypoxia on human trophoblast in culture: morphology, glucose transport and metabolism. Placenta (1997) 0.93
Cloning, mapping, and expression of a novel brain-specific transcript in the familial dysautonomia candidate region on chromosome 9q31. Mamm Genome (2000) 0.92
Hypervalinemia. A defect in valine transamination. Pediatrics (1967) 0.92
Lysine-ketoglutarate reductase in human tissues. Biochim Biophys Acta (1975) 0.92
Hypoxanthine phosphoribosyltransferase activity in intact fibroblasts from patients with X-linked hyperuricemia. J Clin Invest (1976) 0.91
Diagnostic test for congenital hyperuricemia with central nervous system dysfunction. J Lab Clin Med (1968) 0.91
Congenital hyperuricemia. An inborn error of purine metabolism associated with psychomotor retardation, athetosis, and self-mutilation. Arch Neurol (1969) 0.91
Transport of amino acids by placenta. Am J Obstet Gynecol (1968) 0.90
Bolus tocolysis: treatment of preterm labor with pulsatile administration of a beta-adrenergic agonist. Am J Obstet Gynecol (1989) 0.90
Respiratory system stability and abnormal carbon dioxide homeostasis. J Appl Physiol (1985) (1992) 0.89
Familial hyperlysinemia: enzyme studies, diagnostic methods, comments on terminology. Am J Hum Genet (1979) 0.89
Quantitative sensory testing of thermal and vibratory perception in familial dysautonomia. Clin Auton Res (2000) 0.89
Transfer of glutamic acid across the human placenta perfused in vitro. Br J Obstet Gynaecol (1979) 0.88
Comparative rates of metabolism of pipecolic acid in several animal species. Comp Biochem Physiol B (1982) 0.87
Treatment of familial dysautonomia with bethanecol (urecholine). J Pediatr (1972) 0.87
Analysis for lysine, arginine, histidine, and tyrosine in biological fluids. Anal Biochem (1967) 0.87
Cell population density and phenotypic expression of tissue culture fibroblasts from heterozygotes of Lesch-Nyhan's disease (inosinate pyrophosphorylase deficiency). Biochem Genet (1969) 0.87
Hypoxia stimulates ecNOS mRNA expression by differentiated human trophoblasts. Ann N Y Acad Sci (1997) 0.87
Maple syrup urine disease: branched-chain keto acid decarboxylation in fibroblasts as measured with amino acids and keto acids. Am J Hum Genet (1977) 0.86
Dermal microdialysis provides evidence for hypersensitivity to noradrenaline in patients with familial dysautonomia. J Neurol Neurosurg Psychiatry (2002) 0.86
Catecholamine release in familial dysautonomia. N Engl J Med (1967) 0.86
Sympathetic skin response differentiates hereditary sensory autonomic neuropathies III and IV. Neurology (1999) 0.86
Personality development and familial dysautonomia. Pediatrics (1980) 0.85
Transfer across perfused human placenta. II. Free fatty acids. Pediatr Res (1973) 0.85
A method for the prenatal diagnosis of congenital hyperuricemia. J Pediatr (1969) 0.85
Cold face test demonstrates parasympathetic cardiac dysfunction in familial dysautonomia. Am J Physiol (1999) 0.84
Modulation of branched-chain alpha-keto acid decarboxylase activity in rat liver mitochondria by hypophysectomy. Arch Biochem Biophys (1976) 0.84
Studies on cell communication with enucleated human fibroblasts. J Cell Biol (1976) 0.84
Familial dysautonomia: a prospective study of survival. J Pediatr (1982) 0.84
Dopamine agonist induced self-mutilative biting behavior in monkeys with unilateral ventromedial tegmental lesions of the brainstem: possible pharmacological model for Lesch-Nyhan syndrome. Brain Res (1986) 0.84
Treatment of hypoplastic anemia in mice with placental transplants. Blood (1977) 0.83
Allgrove syndrome: documenting cholinergic dysfunction by autonomic tests. J Pediatr (1996) 0.83
Zellweger syndrome amniocytes: morphological appearance and a simple sedimentation method for prenatal diagnosis. Pediatr Res (1988) 0.83
The hemolytic anemia of magnesium deficiency in adult rats. Blood (1973) 0.83
Electrocardiographic repolarization abnormalities in familial dysautonomia: an indicator of cardiac autonomic dysfunction. Clin Auton Res (1999) 0.83
Hematopoietic cells in mouse placenta. Am J Obstet Gynecol (1968) 0.82
Intellectual development and familial dysautonomia. Pediatrics (1979) 0.82
Riboflavin concentration in maternal and cord blood in human pregnancy. Am J Obstet Gynecol (1987) 0.82
L-pipecolaturia in Zellweger syndrome. Biochim Biophys Acta (1986) 0.82
The determination of pipecolic acid: method and results of hospital survey. Clin Chim Acta (1983) 0.82
Transfer of estriol and estriol conjugates across the human placenta perfused in situ at midpregnancy. J Clin Endocrinol Metab (1967) 0.82
Amino acid transport in human placental slices. Am J Obstet Gynecol (1974) 0.82
Bradycardia associated with hiatal hernia and gastroesophageal reflux relieved by surgery. Am J Gastroenterol (1987) 0.81
Letter: Mouse fibroblasts A9 are deficient in HPRT and APRT. Am J Hum Genet (1974) 0.81
Serum dopamine-beta-hydroxylase in familial dysautonomia. J Lab Clin Med (1975) 0.81
Highly abnormal thermotests in familial dysautonomia suggest increased cardiac autonomic risk. J Neurol Neurosurg Psychiatry (1998) 0.81
Self-mutilation in Lesch-Nyhan disease is caused by dopaminergic denervation. Lancet (1985) 0.81
Transfer across perfused human placenta. IV. Effect of protein binding on free fatty acids. Pediatr Res (1976) 0.81
Asymmetrical transfer of alpha-aminoisobutyric acid (AIB), leucine and lysine across the in vitro perfused human placenta. Placenta (1987) 0.81
Abnormalities of the corrected QT interval in familial dysautonomia: an indicator of autonomic dysfunction. J Pediatr (1993) 0.81
Hyperlysinemia with saccharopinuria due to combined lysine-ketoglutarate reductase and saccharopine dehydrogenase deficiencies presenting as cystinuria. J Pediatr (1979) 0.81