Published in Br J Dermatol on August 01, 1996
Ehlers-Danlos syndrome type IV. Orphanet J Rare Dis (2007) 2.28
Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV. Am J Hum Genet (2001) 1.58
Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes. J Vasc Surg (2014) 1.54
Splicing defects in the COL3A1 gene: marked preference for 5' (donor) spice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV. Am J Hum Genet (1997) 1.10
Aortic dimensions and the risk of dissection. Heart (2006) 1.01
Juvenile hyaline fibromatosis: impaired collagen metabolism in human skin fibroblasts. Arch Dis Child (1997) 0.95
The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. Eur J Hum Genet (2015) 0.83
Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations. Matrix Biol (2016) 0.79
A new lamin a mutation associated with acrogeria syndrome. J Invest Dermatol (2014) 0.75
Heart transplantation in the Ehlers-Danlos syndrome. Proc (Bayl Univ Med Cent) (2015) 0.75
Open angle glaucoma in a case of Type IV Ehler Danlos syndrome: a rarely reported association. Indian J Ophthalmol (2014) 0.75
The collαgen III fibril has a "flexi-rod" structure of flexible sequences interspersed with rigid bioactive domains including two with hemostatic roles. PLoS One (2017) 0.75
The clinical pharmacology of oral and inhaled salbutamol. Clin Pharmacol Ther (1973) 4.56
Long-term sequelae of Helicobacter pylori gastritis. Lancet (1995) 4.26
Dysplastic changes in prophylactically removed Fallopian tubes of women predisposed to developing ovarian cancer. J Pathol (2001) 3.94
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
Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. Nat Genet (1996) 2.36
Destructive arthropathy in chondrocalcinosis articularis. Ann Rheum Dis (1974) 2.28
Topical steroids for chronic wounds displaying abnormal inflammation. Ann R Coll Surg Engl (2013) 2.03
A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families. Am J Hum Genet (1997) 2.01
The fate of ( 14 C)disodium cromoglycate in man. J Pharm Pharmacol (1972) 1.97
Seroconversion for Helicobacter pylori. Lancet (1993) 1.88
Gastric non-Hodgkin lymphomas of mucosa-associated lymphoid tissue are not associated with more aggressive Helicobacter pylori strains as identified by CagA. Am J Clin Pathol (1996) 1.84
Intestinal absorption of two dipeptides in Hartnup disease. Gut (1970) 1.78
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
Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach. Br J Cancer (2002) 1.65
Classification of Osteogenesis Imperfecta revisited. Eur J Med Genet (2009) 1.64
Expression of differentiation and proliferation related proteins in epithelium of prophylactically removed ovaries from women with a hereditary female adnexal cancer predisposition. Histopathology (2003) 1.59
Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. Hum Mutat (2004) 1.57
The clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfecta. J Med Genet (1984) 1.56
Serological diagnosis of tuberculosis: a report of 12 months' clinical experience. Thorax (1976) 1.52
Clinical and genetic evaluation of thirty ovarian cancer families. Am J Obstet Gynecol (1998) 1.49
Pharmacokinetics of inhaled salbutamol in asthmatic patients. Br J Pharmacol (1971) 1.47
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
Type III collagen mutations in Ehlers Danlos syndrome type IV and other related disorders. Clin Exp Dermatol (1988) 1.38
Osteogenesis Imperfecta: A Review with Clinical Examples. Mol Syndromol (2011) 1.38
Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene. Eur J Hum Genet (1999) 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
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
Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist. Eye (Lond) (2011) 1.25
Laceration of abdominal aorta and study of intact abdominal wall as tamponade: report of survival and literature review. Ann Surg (1966) 1.24
The many faces of aggressive aortic pathology: Loeys-Dietz syndrome. Neth Heart J (2008) 1.24
Clinical presentations of Ehlers Danlos syndrome type IV. Arch Dis Child (1988) 1.18
Coxsackie virus infection in acute myocardial infarction. Lancet (1977) 1.17
A genome-wide scan for preeclampsia in the Netherlands. Eur J Hum Genet (2001) 1.17
Collagen deficiency and ruptured cerebral aneurysms. A clinical and biochemical study. J Neurosurg (1983) 1.17
The gene encoding collagen alpha1(V)(COL5A1) is linked to mixed Ehlers-Danlos syndrome type I/II. J Invest Dermatol (1996) 1.15
The fate of (3H)salbutamol in man. Biochem J (1971) 1.13
Ruptured popliteal cyst and pyogenic arthritis. Br Med J (Clin Res Ed) (1981) 1.13
Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian pedigree. Hum Genet (1988) 1.13
A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II. J Med Genet (1998) 1.12
EDS IV (acrogeria): new autosomal dominant and recessive types. J R Soc Med (1980) 1.12
Molecular abnormalities of collagen: a review. J R Soc Med (1983) 1.10
Spinal changes in idiopathic chondrocalcinosis articularis. Rheumatol Rehabil (1976) 1.09
An abnormal collagen alpha chain containing cysteine in autosomal dominant osteogenesis imperfecta. Br Med J (Clin Res Ed) (1984) 1.09
Osteogenesis imperfecta (lethal) bones contain types III and V collagens. J Clin Pathol (1980) 1.08
Effect of oral omeprazole on serum gastrin and serum pepsinogen I levels. Gastroenterology (1984) 1.08
Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity. Eur J Hum Genet (2000) 1.08
Clinical significance of pepsinogen A isozymogens, serum pepsinogen A and C levels, and serum gastrin levels. Cancer (1987) 1.08
A novel BRCA2 mutation in an Indonesian family found with a new, rapid, and sensitive mutation detection method based on pooled denaturing gradient gel electrophoresis and targeted sequencing. J Clin Pathol (2005) 1.08
Localization of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21. Hum Mol Genet (1996) 1.07
A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen. Hum Mol Genet (1994) 1.06
Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV. J Med Genet (1991) 1.03
DNA copy number changes at 8q11-24 in metastasized colorectal cancer. Cell Oncol (2005) 1.03
Substitution of cysteine for glycine within the carboxyl-terminal telopeptide of the alpha 1 chain of type I collagen produces mild osteogenesis imperfecta. J Biol Chem (1988) 1.01
Bruck syndrome: a rare combination of bone fragility and multiple congenital joint contractures. J Pediatr Orthop B (1998) 1.00
Compound-heterozygous Marfan syndrome. Eur J Med Genet (2008) 0.98
Helicobacter pylori serology in patients with gastric carcinoma. Scand J Gastroenterol (1993) 0.97
Variation in gene copy number and polymorphism of the human salivary amylase isoenzyme system in Caucasians. Hum Genet (1992) 0.96
Clinical features and surgical management of retinal detachment secondary to round retinal holes. Eye (Lond) (2005) 0.96
Intestinal absorption of oligopeptides in cystinuria. Clin Sci (1971) 0.95
Linkage of autosomal dominant dystrophic epidermolysis bullosa in three British families to the marker D3S2 close to the COL7A1 locus. J Med Genet (1992) 0.95
Hypercalcaemia in thyrotoxicosis with and without hyperparathyroidism. Postgrad Med J (1970) 0.95
Genetics of urinary pepsinogen: a new hypothesis. Hum Genet (1984) 0.94
Genome-wide linkage in a large Dutch consanguineous family maps a locus for intracranial aneurysms to chromosome 2p13. Stroke (2004) 0.94
Characterization of the Fe-S cluster in aconitase using low temperature magnetic circular dichroism spectroscopy. J Biol Chem (1984) 0.94
A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV. Hum Genet (1992) 0.93
Diffuse pulmonary fibrosis and bilateral pneumothoraces in systemic lupus erythematosus. Postgrad Med J (1975) 0.93
Human gastric cathepsin E. Predicted sequence, localization to chromosome 1, and sequence homology with other aspartic proteinases. J Biol Chem (1989) 0.93
Heterogeneity of osteogenesis imperfecta congenita. Lancet (1980) 0.92
A novel homozygous point mutation in the collagen VII gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosa. Hum Mol Genet (1994) 0.92
The role of type III collagen in spontaneous cervical arterial dissections. Ann Neurol (1998) 0.92
Effect of single and repeated doses of oral omeprazole on gastric acid and pepsin secretion and fasting serum gastrin and serum pepsinogen I levels. Dig Dis Sci (1986) 0.92
Genome-wide linkage in three Dutch families maps a locus for abdominal aortic aneurysms to chromosome 19q13.3. Eur J Vasc Endovasc Surg (2005) 0.91
Linkage and association studies of IL1B and IL1RN gene polymorphisms in preeclampsia. Hypertens Pregnancy (2002) 0.91
Genetic linkage to the type VII collagen gene (COL7A1) in 26 families with generalised recessive dystrophic epidermolysis bullosa and anchoring fibril abnormalities. J Med Genet (1994) 0.91
Collagen genes and proteins in osteogenesis imperfecta. J Med Genet (1985) 0.91
A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient. Eur J Med Genet (2011) 0.91
An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection. Clin Genet (2012) 0.91
Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro(alpha)2(I) chain and an EDS/OI clinical phenotype. J Med Genet (2001) 0.90
Isolation of alpha-amino adipic acid from mature dermal collagen and elastin. Evidence for an oxidative pathway in the maturation of collagen and elastin. Biochem Biophys Res Commun (1977) 0.89
Azotobacter chroococcum 7Fe ferredoxin. Two pH-dependent forms of the reduced 3Fe clusters and its conversion to a 4Fe cluster. Biochem J (1984) 0.89
The revised role of TGF-β in aortic aneurysms in Marfan syndrome. Neth Heart J (2015) 0.89
Renal handling of pepsinogens A and C in man. Clin Sci (Lond) (1988) 0.89
Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV. Am J Med Genet (1993) 0.89
Gastric chief cell-specific transcription of the pepsinogen A gene. Eur J Biochem (1993) 0.89
Parental mosaicism and autosomal dominant mutations causing structural abnormalities of collagen I are frequent in families with osteogenesis imperfecta type III/IV. Acta Paediatr (1997) 0.88
Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile. Clin Genet (2003) 0.87
TGFB1 gene polymorphisms and inflammatory bowel disease. Immunogenetics (2000) 0.87
Immunoblot technique to visualise serum pepsinogen A isozymogen patterns. J Clin Pathol (1990) 0.87
Detection of type III collagen in skin fibroblasts from patients with Ehlers-Danlos syndrome type IV by immunofluorescence. Br J Dermatol (1988) 0.87
Specific capture of targeted hematopoietic cells by high gradient magnetic separation by the use of ordered wire array filters and tetrameric antibody complexes linked to a dextran iron particle. Prog Clin Biol Res (1994) 0.87
Developmental regulation of cell-type-enriched mRNAs in Dictyostelium discoideum. Mol Microbiol (1990) 0.87