Steinmann B - Search Results

1

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 Free article.

2

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

3

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

4

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 Free article.

5

Quantification of single nucleotide polymorphisms: a novel method that combines primer extension assay and capillary electrophoresis.

Mátyás G, Giunta C, Steinmann B, Hossle JP, Hellwig R. Mátyás G, et al. Among authors: steinmann b. Hum Mutat. 2002 Jan;19(1):58-68. doi: 10.1002/humu.10013. Hum Mutat. 2002. PMID: 11754104

6

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.

7

A bioinformatics framework for genotype-phenotype correlation in humans with Marfan syndrome caused by FBN1 gene mutations.

Baumgartner C, Mátyás G, Steinmann B, Eberle M, Stein JI, Baumgartner D. Baumgartner C, et al. Among authors: steinmann b. J Biomed Inform. 2006 Apr;39(2):171-83. doi: 10.1016/j.jbi.2005.06.001. Epub 2005 Jul 14. J Biomed Inform. 2006. PMID: 16061422 Free article.

8

Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency.

Meienberg J, Rohrbach M, Neuenschwander S, Spanaus K, Giunta C, Alonso S, Arnold E, Henggeler C, Regenass S, Patrignani A, Azzarello-Burri S, Steiner B, Nygren AO, Carrel T, Steinmann B, Mátyás G. Meienberg J, et al. Among authors: steinmann b. Eur J Hum Genet. 2010 Dec;18(12):1315-21. doi: 10.1038/ejhg.2010.105. Epub 2010 Jul 21. Eur J Hum Genet. 2010. PMID: 20648054 Free PMC article.

9

Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Najafi A, Caspar SM, Meienberg J, Rohrbach M, Steinmann B, Matyas G. Najafi A, et al. Among authors: steinmann b. Clin Genet. 2020 Feb;97(2):235-245. doi: 10.1111/cge.13640. Epub 2019 Oct 1. Clin Genet. 2020. PMID: 31506931 Free PMC article.

10

New insights into the performance of human whole-exome capture platforms.

Meienberg J, Zerjavic K, Keller I, Okoniewski M, Patrignani A, Ludin K, Xu Z, Steinmann B, Carrel T, Röthlisberger B, Schlapbach R, Bruggmann R, Matyas G. Meienberg J, et al. Among authors: steinmann b. Nucleic Acids Res. 2015 Jun 23;43(11):e76. doi: 10.1093/nar/gkv216. Epub 2015 Mar 27. Nucleic Acids Res. 2015. PMID: 25820422 Free PMC article.

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