Published in Am J Hum Genet on May 01, 1977
DNA probe analysis for carrier detection and prenatal diagnosis of Duchenne muscular dystrophy: a standard diagnostic procedure. J Med Genet (1986) 1.55
High male:female ratio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders. Am J Hum Genet (1996) 1.48
The genetic status of mothers of isolated cases of Duchenne muscular dystrophy. J Med Genet (1983) 1.32
Effects of reproductive compensation and genetic drift on X-linked lethals. Am J Hum Genet (1978) 1.20
Somatic mosaicism in hemophilia A: a fairly common event. Am J Hum Genet (2001) 1.03
On the power to detect differences between male and female mutation rates for Duchenne muscular dystrophy, using classical segregation analysis and restriction fragment length polymorphisms. Am J Hum Genet (1986) 0.95
Segregation analysis of hemophilia A and B. Am J Hum Genet (1985) 0.90
Detection of hunter heterozygotes by enzymatic analysis of hair roots. Am J Hum Genet (1979) 0.86
Segregation analysis of hemophilia A and B. Am J Hum Genet (1979) 0.85
Genetic drift in sex-linked lethal disorders. Am J Hum Genet (1979) 0.81
Effect of reproductive compensation and the desire to have male offspring on the incidence of a sex-linked lethal disease. Am J Hum Genet (1980) 0.80
Advancing paternal age and psychiatric disorders. World Psychiatry (2015) 0.76
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Formal genetics of muscular dystrophy. Am J Hum Genet (1959) 6.03
Spontaneous mutation in man. Adv Hum Genet (1975) 2.96
The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease. Am J Hum Genet (1976) 2.51
On the inheritance of muscular dystrophy; with a note on the blood groups, and a note on colour vision and linkage studies. Ann Hum Genet (1955) 2.27
Muscular dystrophy in Northern Ireland, I. An account of the condition in fifty-one families. Ann Eugen (1953) 2.15
Mutation in the sex-linked recessive type of muscular dystrophy; a possible sex difference. Ann Hum Genet (1956) 1.71
Sporadic cases of hemophilia and the question of a possible sex difference in mutation rates. Am J Hum Genet (1962) 1.67
The sex ratio of mutation rates of sex-linked recessive genes in man with particular reference to Duchenne type muscular dystrophy. Ann Hum Genet (1958) 1.53
Genetic epidemiology of Lesch-Nyhan disease. Am J Hum Genet (1977) 1.33
Muscular dystrophy in Northern Ireland. IV. Some additional data. Ann Hum Genet (1958) 1.33
The effect of parental age on rates of mutation for hemophilia and evidence for differing mutation rates for hemophilia A and B. Am J Hum Genet (1968) 1.27
Answer to criticism of Morton and Lalouel. Am J Hum Genet (1977) 1.24
The sporadic case of haemophilia A. Lancet (1976) 1.16
Carriers of hemophilia A: a laboratory study. Acta Med Scand (1959) 1.12
Hemostatic data in relatives of hemophiliacs A and B; evidence for modifying the classical sex-linked recessive hypothesis. AMA Arch Intern Med (1958) 1.09
[The effect of the age of the father at conception on the mutations to hemphilia A]. Humangenetik (1966) 0.98
Spontaneous frequencies of point mutations in mice. Humangenetik (1972) 0.87
[Are the mutation rates for the X-chromosomal forms of hemophilia in female gonads lower than in the gonads of males?]. Humangenetik (1965) 0.87
[New data on the genetics and classification of muscular dystrophies]. Humangenetik (1972) 0.81
[Mechanism of some spontaneous mutations in man]. Z Mensch Vererb Konstitutionsl (1958) 0.81
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Distinct functions for the two importin subunits in nuclear protein import. Nature (1995) 4.16
Genetics of retinoblastoma. Hum Genet (1979) 3.67
VIP21-caveolin, a membrane protein constituent of the caveolar coat, oligomerizes in vivo and in vitro. Mol Biol Cell (1995) 3.05
Spontaneous mutation in man. Adv Hum Genet (1975) 2.96
Importin provides a link between nuclear protein import and U snRNA export. Cell (1996) 2.65
Targeted mutation of plakoglobin in mice reveals essential functions of desmosomes in the embryonic heart. J Cell Biol (1996) 2.27
Controversy in human genetics. ABO blood groups and disease. Am J Hum Genet (1970) 1.48
Nup2p, a yeast nucleoporin, functions in bidirectional transport of importin alpha. Mol Cell Biol (2000) 1.34
Higher frequencies of transitions among point mutations. J Mol Evol (1977) 1.24
Introduction of plasmid DNA into isolated mitochondria by electroporation. A novel approach toward gene correction for mitochondrial disorders. J Biol Chem (1997) 1.20
Formal genetics of Fanconi's anemia. Hum Genet (1976) 1.15
Functional expression of GFP-linked human heart sodium channel (hH1) and subcellular localization of the a subunit in HEK293 cells and dog cardiac myocytes. J Membr Biol (2002) 1.14
Urokinase-induced mitogenesis is mediated by casein kinase 2 and nucleolin. Curr Biol (2000) 1.13
Mutation and selection in the marker (X) syndrome. A hypothesis. Ann Hum Genet (1984) 1.11
Age increases brain complexity. Electroencephalogr Clin Neurophysiol (1996) 1.11
Mammalian aldolases are isomer-selective high-affinity inositol polyphosphate binders. Eur J Biochem (1986) 1.11
The genetic basis of the normal human electroencephalogram (EEG). Humangenetik (1970) 1.09
Improvement of depression by REM sleep deprivation. New findings and a theory. Arch Gen Psychiatry (1980) 1.05
Inducible membranes in yeast: relation to the unfolded-protein-response pathway. Yeast (1997) 1.04
Effect of midazolam on sleep of insomniacs. Br J Clin Pharmacol (1983) 1.03
Yeast cells allow high-level expression and formation of polyomavirus-like particles. Biol Chem (1999) 1.02
DNA of the Streptomyces phage SH10: binding sites for Escherichia coli RNA polymerase and denaturation map. Mol Gen Genet (1983) 1.00
Induction of lymphomas by the hamster papovavirus correlates with massive replication of nonrandomly deleted extrachromosomal viral genomes. J Virol (1987) 0.99
Localization of a gene for the human low-voltage EEG on 20q and genetic heterogeneity. Genomics (1992) 0.97
The incidence of some inherited EEG variants in normal Japanese and German males. Humangenetik (1969) 0.97
Thyroid hormone regulates the obesity gene tub. EMBO Rep (2001) 0.97
The 4-5 c-sec rhythm. Electroencephalogr Clin Neurophysiol (1969) 0.97
Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q. J Med Genet (1992) 0.96
ABO blood groups and smallpox in a rural population of West Bengal and Bihar (India). Humangenetik (1966) 0.95
Proliferation of intracellular membrane structures upon homologous overproduction of cytochrome P-450 in Candida maltosa. Biochim Biophys Acta (1995) 0.93
Regulation of endoplasmic reticulum biogenesis in response to cytochrome P450 overproduction. Drug Metab Rev (1999) 0.93
Programs, databases, and expert systems for human geneticists--a survey. Hum Genet (1996) 0.93
Point mutations and human hemoglobin variants. Humangenetik (1969) 0.92
Impact of the Asp299Gly polymorphism in the toll-like receptor 4 (tlr-4) gene on disease course of multiple sclerosis. J Neuroimmunol (2005) 0.91
Tapetoretinal degeneration in brothers with apparent Cohen syndrome: nosology with Mirhosseini-Holmes-Walton syndrome. Am J Med Genet (1991) 0.89
Non-randomness of base replacement in point mutation. J Mol Evol (1972) 0.89
[On genetics of progressive myoclonic epilepsies (Unverricht-Lundborg)]. Humangenetik (1965) 0.89
Refinement of the localization of the gene for neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4) to human chromosome 20q13.2-q13.3. Genomics (1994) 0.89
A genetic study of the human low-voltage electroencephalogram. Hum Genet (1992) 0.89
[Statistical relationships beteen the abo blood groups and diseases withthe exception of infectius diseases]. Blut (1968) 0.88
Comparison of two cytochromes P-450 from Candida maltosa: primary structures, substrate specificities and effects of their expression in Saccharomyces cerevisiae on the proliferation of the endoplasmic reticulum. Eur J Cell Biol (1991) 0.87
[Are the mutation rates for the X-chromosomal forms of hemophilia in female gonads lower than in the gonads of males?]. Humangenetik (1965) 0.87
Grepafloxacin: a review of its safety profile based on clinical trials and postmarketing surveillance. Clin Ther (1999) 0.87
Detection of IgG antibodies against pigeon intestinal mucosa antigens in pigeon breeders' sera using the immunofluorescent technique. Int Arch Allergy Appl Immunol (1976) 0.87
Clinical consequences of heterozygosity for autosomal-recessive diseases. Clin Genet (1984) 0.86
[Distribution of the HL-A antigens in patients with pigeon breeder's lung]. Schweiz Med Wochenschr (1978) 0.86
ABO blood groups and the type of leprosy in an Indian population. Humangenetik (1966) 0.86
The internal order of the interphase nucleus. Humangenetik (1974) 0.86
Blood groups and natural selection. Bibl Haematol (1965) 0.86
A twin study on three enzymes (DBH, COMT, MAO) of catecholamine metabolism. Correlations with MMPI. Psychopharmacology (Berl) (1978) 0.86
Slim disease (AIDS) Lancet (1986) 0.86
Spontaneous pulmonary neoplasms in cynomolgus monkeys (Macaca fascicularis)--a report of two cases. Exp Toxicol Pathol (2001) 0.86
Congenital renal arteriovenous malformation in pregnancy presenting with hypertension. Urology (1994) 0.85
Isolation of a SV40-like Papovavirus from a human glioblastoma. Int J Cancer (1979) 0.85
Developmental regulation of mammary-derived growth inhibitor expression in bovine mammary tissue. J Cell Biol (1990) 0.84
The electroencephalogram (EEG) as a research tool in human behavior genetics: psychological examinations in healthy males with various inherited EEG variants. II. Results. Hum Genet (1979) 0.84
Another pedigree with pure autosomal dominant spastic paraplegia (AD-FSP) from Tibet mapping to 14q11.2-q24.3. Hum Genet (1997) 0.84
[Nosocomial pneumonia: prevention, diagnosis, treatment]. Pneumologie (2003) 0.84
Genetic counseling in the epilepsies. I. Genetic risks. Hum Genet (1987) 0.84
Effects of hydrogen peroxide scavenger Catalase on villous microcirculation in the rat small intestine in a model of inflammatory bowel disease. Microvasc Res (2000) 0.83
Protein quality--a determinant of the intracellular fate of membrane-bound cytochromes P450 in yeast. DNA Cell Biol (1997) 0.83
Altered responsiveness of murine lymphoid cells treated with cryptococcal capsular polysaccharide. Proc Soc Exp Biol Med (1982) 0.83
In vivo reconstitution of highly active Candida maltosa cytochrome P450 monooxygenase systems in inducible membranes of Saccharomyces cerevisiae. DNA Cell Biol (1995) 0.82
Low alpha-fetoprotein and serum albumin levels in Morbus Down may point to a common regulatory mechanism. Hum Genet (1985) 0.82
Letter: HLA-B8 in pigeon-fancier's lung. Lancet (1975) 0.82
Fluorescence labelling of NADPH-cytochrome P-450 reductase with the monobromomethyl derivative of syn-9,10-dioxabimane. Biochem J (1983) 0.82
Cost-effectiveness of ceftriaxone 1 g vs second-generation cephalosporins in the treatment of pneumonia in general medical wards in Germany. Infection (1999) 0.81
A mammary-derived growth inhibitor (MDGI) related 70 kDa antigen identified in nuclei of mammary epithelial cells. J Cell Physiol (1989) 0.81
Topogenesis of a microsomal cytochrome P450 and induction of endoplasmic reticulum membrane proliferation in Saccharomyces cerevisiae. Arch Biochem Biophys (1996) 0.81
Isolation of a SV40-like virus from a patient with progressive multifocal leukoencephalopathy. Acta Virol (1981) 0.81
Does the human X chromsome show evidence for clustering of genes with related functions? J Genet Hum (1969) 0.81
A linkage study of acrokeratoelastoidosis. Possible mapping to chromosome 2. Hum Genet (1983) 0.81
ABO blood groups and leprosy. J Med Genet (1968) 0.81
ABO blood groups, leprosy, and serum proteins. Humangenetik (1969) 0.81
Sequential therapy with cefuroxime followed by cefuroxime axetil in community-acquired pneumonia. Chest (1997) 0.80
Genetic control of platelet glutaminase: a twin study. Hum Genet (1983) 0.80
ABO blood groups , Inv serum groups, and serum proteins in leprosy patients from West Bengal (India). Humangenetik (1971) 0.80
A monozygotic twin pair with Rett syndrome. Hum Genet (1987) 0.80
Short-leg syndrome. Clin Podiatry (1984) 0.79
Is there a general relationship between estimated chromosome distances in interphase and location of genes with related functions? Hum Genet (1983) 0.79
[Of the genetic basis of fronto-precentral beta wave groups in human EEG]. Humangenetik (1966) 0.79
Phenotypic deviations in heterozygotes of phenylketonuria (PKU). Prog Clin Biol Res (1985) 0.79
Duloxetine serum concentrations and clinical effects. Data from a therapeutic drug monitoring (TDM) survey. Pharmacopsychiatry (2009) 0.79
Amino-acid substitutions in haemoglobins and the mutation process. Nature (1966) 0.79
Genetic aspects of induced mutation. Hum Genet Suppl (1978) 0.79
Recurrent mutation pressure does not explain the prevalence of the marker (X) syndrome. Hum Genet (1985) 0.78
[Prophylaxis and treatment of respiratory tract infection in ventilated patients by endotracheal administration of aminoglycosides (author's transl)]. Dtsch Med Wochenschr (1981) 0.78
The electroencephalogram (EEG) as a research tool in human behavior genetics: psychological examinations in healthy males with various inherited EEG variants. III. Interpretation of the results. Hum Genet (1979) 0.78
Management of lymphocysts after radical gynecologic surgery. Gynecol Oncol (1989) 0.78
NADPH-cytochrome P-450 reductase (pig liver). Studies on the sequence of the cyanogen bromide peptides from the catalytic domain and on the reactivity of the thiol groups. Biol Chem Hoppe Seyler (1985) 0.78
Randomized, double-blind study of short-course (5 day) grepafloxacin versus 10 day clarithromycin in patients with acute bacterial exacerbations of chronic bronchitis. J Antimicrob Chemother (1999) 0.78
Modelling germline mosaicism and different new mutation rates simultaneously for appropriate risk calculations in families with Duchenne muscular dystrophy. Ann Hum Genet (2006) 0.78
Indomethacin-induced disturbances in villous microcirculation in the rat ileum. Microvasc Res (1999) 0.78
Hyperventilation-induced changes of blood cell counts depend on hypocapnia. Eur J Appl Physiol Occup Physiol (1994) 0.77
Interplay between humans and infective agents: a population genetic study. Hum Genet (1998) 0.77
Production of monoclonal antibodies against epitopes of the main coat protein of filamentous fd phages. J Immunol Methods (1994) 0.77
Metabolic traits in mentally retarded children as compared with normal populations: monoaminodicarboxylic acids and their half amides and total amino acids. J Ment Defic Res (1969) 0.77