Published in Am J Med Genet on January 01, 1981
Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. Am J Hum Genet (2005) 2.06
Midbrain-hindbrain involvement in lissencephalies. Neurology (2008) 1.58
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability. Am J Hum Genet (2012) 1.22
Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). J Child Neurol (2009) 1.08
Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy. Neurogenetics (2010) 0.99
A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion. BMC Med Genet (2012) 0.90
Reply to Herz et al. and Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion. Proc Natl Acad Sci U S A (2008) 0.82
Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation. J Neurol (2013) 0.81
Uner tan syndrome: history, clinical evaluations, genetics, and the dynamics of human quadrupedalism. Open Neurol J (2010) 0.80
Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation. Neurogenetics (2016) 0.75
Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs. Clin Genet (1976) 1.90
Maintenance of lower proportions of (n - 6) eicosanoid precursors in phospholipids of human plasma in response to added dietary (n - 3) fatty acids. Biochim Biophys Acta (1992) 1.50
Thymus deficiency in an infant with a chromosome t(18;22)(q12.2;p11.2)pat rearrangement. Clin Genet (1986) 1.42
Mandibulofacial dysostosis with limb malformations (Nager's acrofcial dysostosis). Birth Defects Orig Artic Ser (1974) 1.24
Caudal regression anomalad (sacral agenesis) in siblings. Clin Genet (1978) 1.13
Body iron stores and risk of colonic neoplasia. J Natl Cancer Inst (1994) 1.11
Trisomy 9 mosaicism in a newborn infant with multiple malformations. J Pediatr (1974) 1.11
The critical segment for the Langer-Giedion syndrome: 8q24.11----q24.12. Ann Genet (1985) 1.09
Serum antioxidants and age-related macular degeneration in a population-based case-control study. Arch Ophthalmol (1995) 1.08
Balanced t(8;9)(q12;q33)pat carrier with phenotypic abnormalities attributable to a de novo terminal deletion of the long arm of chromosome 7. Hum Genet (1978) 1.08
Human serum carotenoid concentrations are related to physiologic and lifestyle factors. J Nutr (1996) 1.07
Balanced translocations involving chromosome 12: report of a case and possible evidence for position effect. Ann Genet (1976) 1.05
Chiral discrimination of inhalation anesthetics and methyl propionates by thickness shear mode resonators: new insights into the mechanisms of enantioselectivity by cyclodextrins. Anal Chem (1997) 0.98
Achondroplasia in two sisters with normal parents. Birth Defects Orig Artic Ser (1974) 0.95
Biological activation of 1,3-butadiene to vinyl oxirane by rat liver microsomes and expiration of the reactive metabolite by exposed rats. J Cancer Res Clin Oncol (1983) 0.95
Balanced reciprocal translocation between two D-group chromosomes in a family with myotonic dystrophy. Am J Med Sci (1968) 0.94
Determining the origins and the structural aberrations of small marker chromosomes in two cases of 45,X/46,X, + mar by use of chromosome-specific DNA probes. Am J Med Genet (1990) 0.94
The X-linked syndrome of macroorchidism and mental retardation: further observations. Am J Med Genet (1978) 0.92
The Meckel syndrome in the Hutterites. Am J Med Genet (1980) 0.90
Cellular expansion and gene expression in the developing grape (Vitis vinifera L.). Protoplasma (2008) 0.90
Sex-specific activity of (R)-(-)- and (S)- (+)-1,7-dioxaspiro[5.5]undecane, the major pheromone ofDacus oleae. J Chem Ecol (1986) 0.89
Stopped flow microcalorimetry without adiabatic compression:application to reactions with half-lives between 3 and 50 ms. Anal Biochem (1980) 0.89
Enantioselective determination of chiral 2,2',3,3',4,6'-hexachlorobiphenyl (PCB 132) in human milk samples by multidimensional gas chromatography/electron capture detection and by mass spectrometry. Chemosphere (1995) 0.86
Participation of lycopene and beta-carotene in carcinogenesis: defenders, aggressors, or passive bystanders? Epidemiol Rev (2001) 0.86
Stereoselective pharmacokinetic analysis of valnoctamide in healthy subjects and in patients with epilepsy. Clin Pharmacol Ther (1997) 0.85
Serum carotenoids and tocopherols and severity of nuclear and cortical opacities. Invest Ophthalmol Vis Sci (1995) 0.85
Cytochrome P-450-catalyzed asymmetric epoxidation of simple prochiral and chiral aliphatic alkenes: species dependence and effect of enzyme induction on enantioselective oxirane formation. Chirality (1989) 0.84
Enantiomer separation by pressure-supported electrochromatography using capillaries packed with a permethyl-beta-cyclodextrin stationary. J Chromatogr A (1998) 0.84
Enantioselective determination of chiral organochlorine compounds in biota by gas chromatography on modified cyclodextrins. J Chromatogr A (1997) 0.84
Syndrome of skeletal and genitourinary anomalies with unusual facies and failure to thrive in Hutterite sibs. Birth Defects Orig Artic Ser (1976) 0.84
Enantiomer separation by pressure-supported electrochromatography using capillaries packed with Chirasil-Dex polymer-coated silica. Electrophoresis (1999) 0.84
Innovative high-surface-area CuO pretreated cotton effective in bacterial inactivation under visible light. ACS Appl Mater Interfaces (2010) 0.84
Determination of the cis-trans isomerization barrier of several L-peptidyl-L-proline dipeptides by dynamic capillary electrophoresis and computer simulation. Electrophoresis (2001) 0.83
Enantiomer separation using mobile and immobile cyclodextrin derivatives with electromigration. Electrophoresis (1994) 0.83
Photocatalytic storing of O2 as H2O2 mediated by high surface area CuO. Evidence for a reductive-oxidative interfacial mechanism. Langmuir (2005) 0.83
Enantioselective analysis of levetiracetam and its enantiomer R-alpha-ethyl-2-oxo-pyrrolidine acetamide using gas chromatography and ion trap mass spectrometric detection. J Chromatogr B Biomed Sci Appl (2000) 0.82
Pharmacokinetics of levetiracetam and its enantiomer (R)-alpha-ethyl-2-oxo-pyrrolidine acetamide in dogs. Epilepsia (2001) 0.82
Determination of enantiomerization barriers by dynamic and stopped-flow chromatographic methods. Chirality (2001) 0.82
Familial paracentric inversions inv(2)(q31q35) and inv(8)(q22.3q24.13) ascertained through reproductive abnormalities. Hum Genet (1987) 0.82
Spontaneous abortion. Chromosome studies on 41 cases and an analysis of maternal age and duration of pregnancy in relation to karyotype. Am J Obstet Gynecol (1969) 0.82
Workshop on genetic disorders in the Hutterites--Edmonton, Canada, October 12-13, 1983. Am J Med Genet (1985) 0.81
beta-Carotene supplementation results in an increased serum and colonic mucosal concentration of beta-carotene and a decrease in alpha-tocopherol concentration in patients with colonic neoplasia. Cancer Epidemiol Biomarkers Prev (1994) 0.81
Neurofibromatosis and psychological processes. J Dev Behav Pediatr (1988) 0.81
Stereoselective pharmacokinetics and pharmacodynamics of propylisopropyl acetamide, a CNS-active chiral amide analog of valproic acid. Pharm Res (1999) 0.81
Chiral discrimination using an immunosensor. Nat Biotechnol (1999) 0.80
Common risk factors in adolescent suicide attempters revisited. Crisis (1999) 0.80
Partial trisomy 4q due to familial 2/4 translocation. Hum Genet (1976) 0.79
Changes in plasma lipids and lipoproteins after a modified fat diet. Lancet (1980) 0.78
Enantiomer separation by capillary electrochromatography on a cyclodextrin-modified monolith. Electrophoresis (2000) 0.78
The Laurence-Moon syndrome. Association with hypogonadotrophic hypogonadism and sex-chromosome aneuploidy. Arch Intern Med (1965) 0.78
Minimum alveolar anesthetic concentration values for the enantiomers of isoflurane differ minimally. Anesth Analg (1997) 0.78
Serum concentrations of vitamin D metabolites, vitamins A and E, and carotenoids in six canid and four ursid species at four zoos. Comp Biochem Physiol A Mol Integr Physiol (2001) 0.78
Absolute configuration and conformational analysis of a degradation product of inhalation anesthetic Sevoflurane: A vibrational circular dichroism study. Chirality (2002) 0.78
Position of the Duffy locus on chromosome 1 in relation to breakpoints for structural rearrangements. Am J Hum Genet (1974) 0.77
Separation and absolute configuration of the enantiomers of a degradation product of the new inhalation anesthetic sevoflurane. Chirality (2000) 0.77
Duplication 8q syndrome due to familial chromosome ins(10;8)(q21;q212q22). Am J Med Genet (1983) 0.77
Normal serum response to oral beta-carotene in humans. J Am Coll Nutr (1989) 0.77
Effects of beta-carotene repletion on beta-carotene absorption, lipid peroxidation, and neutrophil superoxide formation in young men. Nutr Cancer (1990) 0.77
Trembling chin--a report of this inheritable dominant character in a four-generation Canadian family. Clin Genet (1991) 0.77
Temperature-dependent stereoselectivity and hydrogen deuterium kinetic isotope effect for .gamma.-hydrogen transfer to 2-hexyloxy radical. The transition state for the Barton reaction. J Am Chem Soc (1986) 0.77
Dynamic micellar electrokinetic chromatography. Determination of the enantiomerization barriers of oxazepam, temazepam, and lorazepam. Anal Chem (2000) 0.77
Enantiomer separation of chiral pharmaceuticals by capillary electrochromatography. J Chromatogr A (2000) 0.77
Inverted duplication of 22pter----q11.21 in cat-eye syndrome. Am J Med Genet (1986) 0.76
[Hereditary bullous epidermolyses. Recent aspects of diagnosis and therapy]. Hautarzt (1986) 0.76
The Alberta Hereditary Diseases Program: a regional model for delivery of genetic services. CMAJ (1990) 0.76
Pulmonary pentane excretion increases with age in healthy subjects. Mech Ageing Dev (1993) 0.76
Partial trisomy 12p due to t(12;21)pat translocation. Hum Genet (1977) 0.76
Beta-carotene serum response in young and elderly females. Eur J Clin Nutr (1989) 0.76
Undernutrition and vitamin A deficiency in the Department of Linguère, Louga Region of Sénégal. Am J Clin Nutr (1993) 0.76
Scintilymphangiography with 99 mTc-antimony sulfide colloid in hereditary lymphedema (Nonne-Milroy diseases). Clin Nucl Med (1978) 0.76
Lipase-catalyzed irreversible transesterification of 1-(2-furyl)ethanol using isopropenyl acetate. Chirality (2001) 0.76
Enantioselective degradation of alpha-hexachlorocyclohexane and cyclodiene insecticides in roe-deer liver samples from different regions of Germany. Chemosphere (1994) 0.76
An unusual cardiomelic syndrome. Am J Med Genet (1990) 0.75
Polydactyly and other minor stigmata associated with 46,XX-47,XX,D+ mosaicism. Can Med Assoc J (1970) 0.75
Abnormal localisation of gallium-67 citrate in pseudohypertrophic muscular dystrophy. Lancet (1977) 0.75
Chromosomes of the Walker 256 rat mammary carcinoma: observations on primary and metastatic tumors of a new subline with a pseudodiploid karyotype. J Natl Cancer Inst (1968) 0.75
Application of electron backscatter diffraction (EBSD) to fracture studies of ferritic steels. J Microsc (2002) 0.75
Metoclopramide and prochlorperazine: "the blue-tongue sign". Med J Aust (1989) 0.75
A genetic linkage analysis of chromosome 6 markers Chido, HLA, and glyoxalase. Birth Defects Orig Artic Ser (1976) 0.75
Fast stopped-flow microcalorimeter. J Biochem Biophys Methods (1981) 0.75
Comparison of non-modal chromosome counts in individuals affected with myotonic dystrophy and in control subjects. Am J Med Sci (1968) 0.75
Clinical correlation of dysequilibrium syndrome and 4-hydroxybutyric aciduria. J Inherit Metab Dis (1985) 0.75
A genetic linkage analysis of chromosome 6 markers Chido, HLA, and glyoxalase. Cytogenet Cell Genet (1976) 0.75
Beta-carotene decreases markers of lipid peroxidation in healthy volunteers. Nutr Cancer (1993) 0.75
Mild characteristic of Down syndrome with normal karyotype in cultured lymphocytes and skin fibroblasts. Birth Defects Orig Artic Ser (1974) 0.75
Assessment of the intestinal retention of beta-carotene in humans. J Am Coll Nutr (1994) 0.75
Nursing care of the child with cancer. Australas Nurses J (1979) 0.75
A (2;4) translocation, unbalanced, 46 chromosomes. Repository identification No. GM-501. Cytogenet Cell Genet (1976) 0.75
Interchromosomal duplication for the short arm of chromosome no. 9: report of three cases due to a familial translocation t(9; 11) and one case with a de novo 47, XX, +9p karyotype. J Ment Defic Res (1977) 0.75
A (2;4) translocation, balanced, 46 chromosomes. Repository identification No. GM-1064. Cytogenet Cell Genet (1976) 0.75
Serum protein polymorphisms in Indians of western Canada. Gene frequencies and data on the Gc-albumin linkage. Hum Hered (1971) 0.75
A mixed stationary phase containing two versatile cyclodextrin-based selectors for the simultaneous gas chromatographic enantioseparation of racemic alkanes and racemic alpha-amino acid derivatives. J Chromatogr B Analyt Technol Biomed Life Sci (2008) 0.75
The Marfan syndrome, coarctation of the aorta, and precocious puberty. Chest (1977) 0.75
The early days of postgraduate medical television in London. J Audiov Media Med (1980) 0.75
Low serum levels of carotenoids in sickle cell anemia. Eur J Haematol (1988) 0.75
[Hereditary angioneurotic edema. Clinical syndrome and therapy]. Hautarzt (1983) 0.75
Chronic beta-carotene supplementation does not alter the gastric mucosal response to acute aspirin ingestion. J Clin Gastroenterol (1990) 0.75
Structural requirements for anthracycline-induced cardiotoxicity and antitumor effects. Toxicol Appl Pharmacol (1989) 0.75
Oral diet does not alter pulmonary pentane or ethane excretion in healthy subjects. J Am Coll Nutr (1992) 0.75