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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

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Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Mutations in brief no. 217. Online.

Taillandier A, Zurutuza L, Muller F, Simon-Bouy B, Serre JL, Bird L, Brenner R, Boute O, Cousin J, Gaillard D, Heidemann PH, Steinmann B, Wallot M, Mornet E. Taillandier A, et al. Among authors: steinmann b. Hum Mutat. 1999;13(2):171-2. doi: 10.1002/(sici)1098-1004(1999)13:2<171::aid-humu16>3.0.co;2-t. Hum Mutat. 1999. PMID: 10094560

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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

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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

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The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.

Santer R, Rischewski J, von Weihe M, Niederhaus M, Schneppenheim S, Baerlocher K, Kohlschütter A, Muntau A, Posselt HG, Steinmann B, Schneppenheim R. Santer R, et al. Among authors: steinmann b. Hum Mutat. 2005 Jun;25(6):594. doi: 10.1002/humu.9343. Hum Mutat. 2005. PMID: 15880727

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Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis.

Kiehntopf M, Schickel J, Gönne Bv, Koch HG, Superti-Furga A, Steinmann B, Deufel T, Harms E. Kiehntopf M, et al. Among authors: steinmann b. Hum Mutat. 2002 Sep;20(3):237. doi: 10.1002/humu.9063. Hum Mutat. 2002. PMID: 12204010

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Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype.

Gupta PA, Putnam EA, Carmical SG, Kaitila I, Steinmann B, Child A, Danesino C, Metcalfe K, Berry SA, Chen E, Delorme CV, Thong MK, Adès LC, Milewicz DM. Gupta PA, et al. Among authors: steinmann b. Hum Mutat. 2002 Jan;19(1):39-48. doi: 10.1002/humu.10017. Hum Mutat. 2002. PMID: 11754102

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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

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Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.

Nitschke Y, Baujat G, Botschen U, Wittkampf T, du Moulin M, Stella J, Le Merrer M, Guest G, Lambot K, Tazarourte-Pinturier MF, Chassaing N, Roche O, Feenstra I, Loechner K, Deshpande C, Garber SJ, Chikarmane R, Steinmann B, Shahinyan T, Martorell L, Davies J, Smith WE, Kahler SG, McCulloch M, Wraige E, Loidi L, Höhne W, Martin L, Hadj-Rabia S, Terkeltaub R, Rutsch F. Nitschke Y, et al. Among authors: steinmann b. Am J Hum Genet. 2012 Jan 13;90(1):25-39. doi: 10.1016/j.ajhg.2011.11.020. Epub 2011 Dec 29. Am J Hum Genet. 2012. PMID: 22209248 Free PMC article.

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The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.

Janecke AR, Li B, Boehm M, Krabichler B, Rohrbach M, Müller T, Fuchs I, Golas G, Katagiri Y, Ziegler SG, Gahl WA, Wilnai Y, Zoppi N, Geller HM, Giunta C, Slavotinek A, Steinmann B. Janecke AR, et al. Among authors: steinmann b. Am J Med Genet A. 2016 Jan;170A(1):103-15. doi: 10.1002/ajmg.a.37383. Epub 2015 Sep 16. Am J Med Genet A. 2016. PMID: 26373698 Free PMC article.

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