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397 results
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Decreased extracellular deposition of fibrillin and decorin in neonatal Marfan syndrome fibroblasts.
Raghunath M, Superti-Furga A, Godfrey M, Steinmann B. Raghunath M, et al. Among authors: steinmann b. Hum Genet. 1993 Jan;90(5):511-5. doi: 10.1007/BF00217450. Hum Genet. 1993. PMID: 8428751
Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assays.
Giunta C, Steinmann B. Giunta C, et al. Among authors: steinmann b. Hum Mutat. 2000 Aug;16(2):176-7. doi: 10.1002/1098-1004(200008)16:2<176::AID-HUMU12>3.0.CO;2-E. Hum Mutat. 2000. PMID: 10923041
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
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.
Mátyás G, Arnold E, Carrel T, Baumgartner D, Boileau C, Berger W, Steinmann B. Mátyás G, et al. Among authors: steinmann b. Hum Mutat. 2006 Aug;27(8):760-9. doi: 10.1002/humu.20353. Hum Mutat. 2006. PMID: 16791849
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.
Collod-Béroud G, Le Bourdelles S, Ades L, Ala-Kokko L, Booms P, Boxer M, Child A, Comeglio P, De Paepe A, Hyland JC, Holman K, Kaitila I, Loeys B, Matyas G, Nuytinck L, Peltonen L, Rantamaki T, Robinson P, Steinmann B, Junien C, Béroud C, Boileau C. Collod-Béroud G, et al. Among authors: steinmann b. Hum Mutat. 2003 Sep;22(3):199-208. doi: 10.1002/humu.10249. Hum Mutat. 2003. PMID: 12938084 Review.
Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13.
Giunta C, Elçioglu NH, Albrecht B, Eich G, Chambaz C, Janecke AR, Yeowell H, Weis M, Eyre DR, Kraenzlin M, Steinmann B. Giunta C, et al. Among authors: steinmann b. Am J Hum Genet. 2008 Jun;82(6):1290-305. doi: 10.1016/j.ajhg.2008.05.001. Am J Hum Genet. 2008. PMID: 18513683 Free PMC article.
Gene symbol: COL1A2. Disease: Ehlers-Danlos syndrome type VIIB.
Giunta C, Steinmann B. Giunta C, et al. Among authors: steinmann b. Hum Genet. 2008 Jun;123(5):540. Hum Genet. 2008. PMID: 20960610 No abstract available.
Novel human pathological mutations. Gene symbol: PLOD1. Disease: Ehlers-Danlos syndrome type VIA, kyphoscoliotic type.
Giunta C, Bürer-Chambaz C, Steinmann B. Giunta C, et al. Among authors: steinmann b. Hum Genet. 2009 Apr;125(3):346. Hum Genet. 2009. PMID: 19320026 No abstract available.
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
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