Published in J Clin Pathol on June 01, 1980
Abnormal type I collagen metabolism by cultured fibroblasts in lethal perinatal osteogenesis imperfecta. Biochem J (1984) 1.98
Osteoblasts isolated from mouse calvaria initiate matrix mineralization in culture. J Cell Biol (1983) 1.80
Collagen defects in lethal perinatal osteogenesis imperfecta. Biochem J (1986) 1.62
Tight regulation of wingless-type signaling in the articular cartilage - subchondral bone biomechanical unit: transcriptomics in Frzb-knockout mice. Arthritis Res Ther (2012) 1.52
Collagen genes and inherited connective tissue disease. Biochem J (1985) 1.45
Heterogeneity of osteogenesis imperfecta type I. J Med Genet (1983) 1.26
An unusual pattern of peptide-bound lysine metabolism in collagen from an infant with lethal perinatal osteogenesis imperfecta. J Clin Invest (1984) 0.82
Prenatal diagnosis and prevention of inherited abnormalities of collagen. J Inherit Metab Dis (1989) 0.79
Increased expression of the gene for the pro alpha 1(IV) chain of basement-membrane procollagen in cultured skin fibroblasts from two variants of osteogenesis imperfecta. Biochem J (1989) 0.78
Characterization of collagen peptides by sodium dodecylsulfate-polyacrylamide electrophoresis. Anal Biochem (1971) 4.75
Collagen polymorphism: characterization of molecules with the chain composition (alpha 1 (3)03 in human tissues. Science (1974) 3.95
(Alpha1(3))3 human skin collagen. Release by pepsin digestion and preponderance in fetal life. J Biol Chem (1974) 3.83
Isolation and characterization of a collagen from chick cartilage containing three identical alpha chains. Biochemistry (1971) 3.61
The estimation of two collagens from human dermis by interrupted gel electrophoresis. Biochem Biophys Res Commun (1976) 3.22
Structure and biosynthesis of basement membranes. Int Rev Connect Tissue Res (1973) 3.04
Altered relation of two collagen types in osteogenesis imperfecta. N Engl J Med (1977) 2.93
Fetal membrane collagens: identification of two new collagen alpha chains. Proc Natl Acad Sci U S A (1976) 2.71
Identification of three genetically distinct collagens by cyanogen bromide cleavage of insoluble human skin and cartilage collagen. Biochem Biophys Res Commun (1971) 2.63
Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta. Proc Natl Acad Sci U S A (1975) 2.36
Osteogenesis imperfecta congenita: evidence for a generalized molecular disorder of collagen. Lab Invest (1977) 1.57
Molecular weight heterogeneity of the alpha-chain sub-units of collagen. Biochem Biophys Res Commun (1971) 1.47
Classification of osteogenesis imperfect. Lancet (1978) 1.37
Biochemical heterogeneity of osteogenesis imperfecta: New variant. Lancet (1979) 1.32
The covalent structure of collagen. Amino-acid sequence of peptide 1-CB6-C2. Eur J Biochem (1972) 1.16
Disturbance in the regulation of the type of collagen synthesized in a form of osteogenesis imperfecta. Eur J Biochem (1975) 1.07
Biochemical studies on the structure of chick bone collagen. Fed Proc (1970) 1.01
Presence of type III collagen in bone from a patient with osteogenesis imperfecta. Eur J Pediatr (1977) 0.98
Letter: Collagen and osteogenesis imperfecta. Lancet (1976) 0.82
Underdiagnosis and undertreatment of asthma in childhood. Br Med J (Clin Res Ed) (1983) 13.49
Prevalence and spectrum of asthma in childhood. Br Med J (Clin Res Ed) (1983) 9.44
Experience with human growth hormone in Great Britain: the report of the MRC Working Party. Clin Endocrinol (Oxf) (1979) 4.42
Wheezing, asthma, and pulmonary dysfunction 10 years after infection with respiratory syncytial virus in infancy. Br Med J (Clin Res Ed) (1982) 4.36
Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV. J Med Genet (1992) 3.80
Causes of short stature. A community study of children in Newcastle upon Tyne. Lancet (1974) 3.47
Effects of various respiratory stimuli on the depth and frequency of breathing in man. Respir Physiol (1966) 3.31
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat Genet (2000) 3.07
Classifying perinatal death: fetal and neonatal factors. Br J Obstet Gynaecol (1986) 3.00
The relation between environmental temperature and oxygen consumption in the new-born baby. J Physiol (1969) 2.92
Changes in the cause of death among HIV positive subjects across Europe: results from the EuroSIDA study. AIDS (2002) 2.90
Patients with Ehlers-Danlos syndrome type IV lack type III collagen. Proc Natl Acad Sci U S A (1975) 2.88
The optimum thermal environment for naked babies. Arch Dis Child (1970) 2.59
Evaporative water loss in the new-born baby. J Physiol (1969) 2.57
The definition of some external characteristics used in the assessment of gestational age in the newborn infant. Dev Med Child Neurol (1966) 2.53
Controlled trial of hyposensitisation to Dermatophagoides pteronyssinus in children with asthma. Lancet (1978) 2.51
Hypoplastic left heart syndrome: more potential transplant recipients than suitable donors. Lancet (1991) 2.50
Rapid assessment of gestational age at birth. Arch Dis Child (1976) 2.47
The normal short child. Community study of children in Newcastle upon Tyne. Arch Dis Child (1974) 2.44
Studies of cellular immunity in male homosexuals in London. Lancet (1983) 2.41
A highly polymorphic region 3' to the human type II collagen gene. Nucleic Acids Res (1985) 2.37
Classifying perinatal death: an obstetric approach. Br J Obstet Gynaecol (1986) 2.37
Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation. J Biol Chem (1984) 2.25
Bias due to incomplete follow up in a cohort study. Br J Ophthalmol (1999) 2.15
Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2. Am J Hum Genet (1990) 2.11
Lack of temperature control in infants with abnormalities of central nervous system. Arch Dis Child (1971) 2.01
Exercise as a screening test for growth hormone deficiency in children. Arch Dis Child (1973) 1.92
A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen. Hum Mol Genet (1996) 1.81
Heat losses from babies in incubators. Arch Dis Child (1967) 1.75
A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. Am J Hum Genet (2001) 1.73
Basophils in allergen-induced patch test sites in atopic dermatitis. Lancet (1982) 1.69
A serodiagnostic test for tuberculosis. J Clin Pathol (1975) 1.67
Phenotypical features of an unique Irish family with severe autosomal recessive osteogenesis imperfecta. Clin Genet (1989) 1.65
Non-invasive assessment of pulmonary arterial pressure in healthy neonates. Arch Dis Child (1991) 1.63
The 'grey toddler'. Chloramphenicol toxicity. Arch Dis Child (1974) 1.62
Training programme for senior registrars in community paediatrics. Arch Dis Child (1988) 1.61
Historical evidence for the genetic heterogeneity of pseudoxanthoma elasticum. Br J Dermatol (1975) 1.59
Haemodynamic features at presentation in persistent pulmonary hypertension of the newborn and outcome. Arch Dis Child Fetal Neonatal Ed (1996) 1.59
Cerebrovascular disease in Ehlers-Danlos syndrome type IV. Stroke (1990) 1.58
The clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfecta. J Med Genet (1984) 1.56
Oxygen consumption and heat balance in the cot-nursed baby. Arch Dis Child (1970) 1.56
Infection and its effect on the growth of young children: a comparison of The Gambia and Uganda. Trans R Soc Trop Med Hyg (1977) 1.55
Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides. Proc Natl Acad Sci U S A (1992) 1.54
Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV. J Biol Chem (1989) 1.53
Serological diagnosis of tuberculosis: a report of 12 months' clinical experience. Thorax (1976) 1.52
The molecular defect in a nonlethal variant of osteogenesis imperfecta. Synthesis of pro-alpha 2(I) chains which are not incorporated into trimers of type I procollagen. J Biol Chem (1983) 1.52
Linkage data for Marfan syndrome and markers on chromosomes 1 and 11. J Med Genet (1990) 1.52
Tolerability and side-effects of post-exposure prophylaxis for HIV infection. Lancet (2000) 1.49
Inheritance of Ehlers-Danlos type IV syndrome. J Med Genet (1977) 1.47
COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes. Br J Ophthalmol (2000) 1.45
Agglutinin response to bacterial infection in acute exacerbations of chronic bronchitis. J Clin Pathol (1975) 1.44
Some patients with cerebral aneurysms are deficient in type III collagen. Lancet (1981) 1.43
Obesity in childhood: A community study in Newcastle upon Tyne. Lancet (1977) 1.42
Cytomegalovirus infection in gastrointestinal tracts of patients infected with HIV-1 or AIDS. J Clin Pathol (1989) 1.41
Association of different allelic forms of group specific component with susceptibility to and clinical manifestation of human immunodeficiency virus infection. Lancet (1987) 1.41
Type III collagen mutations in Ehlers Danlos syndrome type IV and other related disorders. Clin Exp Dermatol (1988) 1.38
Neonatal vitamin K administration and childhood cancer in the north of England: retrospective case-control study. BMJ (1998) 1.38
Effect of varying water intake on renal function in healthy preterm babies. Arch Dis Child (1985) 1.36
Biochemical heterogeneity of osteogenesis imperfecta: New variant. Lancet (1979) 1.32
Lethal osteogenesis imperfecta congenita and a 300 base pair gene deletion for an alpha 1(I)-like collagen. Br Med J (Clin Res Ed) (1984) 1.32
An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome. J Med Genet (1996) 1.32
Increase in cerebral palsy in normal birthweight babies. Arch Dis Child (1985) 1.32
Treadmill exercise test in short children. Arch Dis Child (1984) 1.31
Nuclease S1 mapping of a homozygous mutation in the carboxyl-propeptide-coding region of the pro alpha 2(I) collagen gene in a patient with osteogenesis imperfecta. Proc Natl Acad Sci U S A (1984) 1.29
Incidence of growth hormone deficiency. Arch Dis Child (1974) 1.28
Creatinine and urea clearances compared to inulin clearance in preterm and mature babies. Early Hum Dev (1985) 1.27
A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families. Am J Hum Genet (1998) 1.26
Selection biases invalidate current low birthweight weight-for-gestation standards. The Northern Neonatal Network. Br J Obstet Gynaecol (1997) 1.26
Classification of pseudoxanthoma elasticum: report of a consensus conference. J Am Acad Dermatol (1994) 1.25
The response of the sweat glands of the newborn baby to thermal stimuli and to intradermal acetylcholine. J Physiol (1969) 1.25
The total thermal insulation of the new-born baby. J Physiol (1970) 1.25
Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16. Genomics (1999) 1.24
Insulin dependent diabetes in childhood and material deprivation in northern England, 1977-86. BMJ (1991) 1.24
Effect of humidity on production and loss of heat in the newborn baby. Arch Dis Child (1968) 1.24
Pulmonary and systemic arterial pressure in hyaline membrane disease. Arch Dis Child (1992) 1.22
COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture. Br J Dermatol (1996) 1.22
Prostacyclin in severe peripheral vascular disease. Arch Dis Child (1985) 1.20
The effect of prolonged cold exposure on heat production in new-born rabbits. J Physiol (1969) 1.20
An exclusion map of Marfan syndrome. J Med Genet (1990) 1.18
Clinical presentations of Ehlers Danlos syndrome type IV. Arch Dis Child (1988) 1.18
Theoretical investigation of the role of choriocapillaris blood flow in treatment of subfoveal choroidal neovascularization associated with age-related macular degeneration. Am J Ophthalmol (2001) 1.18
The gene responsible for Werner syndrome may be a cell division "counting" gene. Proc Natl Acad Sci U S A (1993) 1.17
Coxsackie virus infection in acute myocardial infarction. Lancet (1977) 1.17
Collagen deficiency and ruptured cerebral aneurysms. A clinical and biochemical study. J Neurosurg (1983) 1.17
Increasing rates of cerebral palsy across the severity spectrum in north-east England 1964-1993. The North of England Collaborative Cerebral Palsy Survey. Arch Dis Child Fetal Neonatal Ed (2000) 1.16
The gene encoding collagen alpha1(V)(COL5A1) is linked to mixed Ehlers-Danlos syndrome type I/II. J Invest Dermatol (1996) 1.15
Small globe thermometers. J Sci Instrum (1968) 1.14
Management of patients with congenital hypothyroidism. Br Med J (Clin Res Ed) (1985) 1.14
Prognosis for babies with meningomyelocele and high lumbar paraplegia at birth. Lancet (1985) 1.13