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Truncated profibrillin of a Marfan patient is of apparent similar size as fibrillin: intracellular retention leads to over-N-glycosylation.
Raghunath M, Kielty CM, Steinmann B. Raghunath M, et al. Among authors: steinmann b. J Mol Biol. 1995 May 19;248(5):901-9. doi: 10.1006/jmbi.1995.0270. J Mol Biol. 1995. PMID: 7760331
Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes.
Magyar I, Colman D, Arnold E, Baumgartner D, Bottani A, Fokstuen S, Addor MC, Berger W, Carrel T, Steinmann B, Mátyás G. Magyar I, et al. Among authors: steinmann b. Hum Mutat. 2009 Sep;30(9):1355-64. doi: 10.1002/humu.21058. Hum Mutat. 2009. PMID: 19618372
Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome.
Mátyás G, Alonso S, Patrignani A, Marti M, Arnold E, Magyar I, Henggeler C, Carrel T, Steinmann B, Berger W. Mátyás G, et al. Among authors: steinmann b. Hum Genet. 2007 Aug;122(1):23-32. doi: 10.1007/s00439-007-0371-x. Epub 2007 May 10. Hum Genet. 2007. PMID: 17492313
Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene.
Mátyás G, De Paepe A, Halliday D, Boileau C, Pals G, Steinmann B. Mátyás G, et al. Among authors: steinmann b. Hum Mutat. 2002 Apr;19(4):443-56. doi: 10.1002/humu.10054. Hum Mutat. 2002. PMID: 11933199
Clinical variability of osteogenesis imperfecta linked to COL1A2 and associated with a structural defect in the type I collagen molecule.
Superti-Furga A, Pistone F, Romano C, Steinmann B. Superti-Furga A, et al. Among authors: steinmann b. J Med Genet. 1989 Jun;26(6):358-62. doi: 10.1136/jmg.26.6.358. J Med Genet. 1989. PMID: 2567784 Free PMC article.
Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability?
Giunta C, Steinmann B. Giunta C, et al. Among authors: steinmann b. Am J Med Genet. 2000 Jan 3;90(1):72-9. doi: 10.1002/(sici)1096-8628(20000103)90:1<72::aid-ajmg13>3.0.co;2-c. Am J Med Genet. 2000. PMID: 10602121
Ehlers-Danlos syndrome type IV: a subset of patients distinguished by low serum levels of the amino-terminal propeptide of type III procollagen.
Steinmann B, Superti-Furga A, Joller-Jemelka HI, Cetta G, Byers PH. Steinmann B, et al. Am J Med Genet. 1989 Sep;34(1):68-71. doi: 10.1002/ajmg.1320340113. Am J Med Genet. 1989. PMID: 2816989
Ehlers-Danlos syndrome type VI with normal lysyl hydroxylase activity cannot be explained by a defect in cellular uptake of ascorbic acid.
Royce PM, Moser U, Steinmann B. Royce PM, et al. Among authors: steinmann b. Matrix. 1989 Mar;9(2):147-9. doi: 10.1016/s0934-8832(89)80033-2. Matrix. 1989. PMID: 2498625
Lethal osteogenesis imperfecta: abnormal collagen metabolism and biochemical characteristics of hypophosphatasia.
Royce PM, Blumberg A, Zurbrügg RP, Zimmermann A, Colombo JP, Steinmann B. Royce PM, et al. Among authors: steinmann b. Eur J Pediatr. 1988 Aug;147(6):626-31. doi: 10.1007/BF00442478. Eur J Pediatr. 1988. PMID: 3181205
Markedly reduced activity of lysyl oxidase in skin and aorta from a patient with Menkes' disease showing unusually severe connective tissue manifestations.
Royce PM, Steinmann B. Royce PM, et al. Among authors: steinmann b. Pediatr Res. 1990 Aug;28(2):137-41. doi: 10.1203/00006450-199008000-00012. Pediatr Res. 1990. PMID: 1975662
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