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Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta.
Lindert U, Kraenzlin M, Campos-Xavier AB, Baumgartner MR, Bonafé L, Giunta C, Rohrbach M. Lindert U, et al. Among authors: rohrbach m. Orphanet J Rare Dis. 2015 Aug 27;10:104. doi: 10.1186/s13023-015-0315-9. Orphanet J Rare Dis. 2015. PMID: 26306627 Free PMC article.
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: rohrbach m. 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.
CRIM-negative infantile Pompe disease: 42-month treatment outcome.
Rohrbach M, Klein A, Köhli-Wiesner A, Veraguth D, Scheer I, Balmer C, Lauener R, Baumgartner MR. Rohrbach M, et al. J Inherit Metab Dis. 2010 Dec;33(6):751-7. doi: 10.1007/s10545-010-9209-0. Epub 2010 Sep 30. J Inherit Metab Dis. 2010. PMID: 20882352 Free article.
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.
Becker J, Semler O, Gilissen C, Li Y, Bolz HJ, Giunta C, Bergmann C, Rohrbach M, Koerber F, Zimmermann K, de Vries P, Wirth B, Schoenau E, Wollnik B, Veltman JA, Hoischen A, Netzer C. Becker J, et al. Among authors: rohrbach m. Am J Hum Genet. 2011 Mar 11;88(3):362-71. doi: 10.1016/j.ajhg.2011.01.015. Epub 2011 Feb 25. Am J Hum Genet. 2011. PMID: 21353196 Free PMC article.
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.
Burkitt Wright EMM, Spencer HL, Daly SB, Manson FDC, Zeef LAH, Urquhart J, Zoppi N, Bonshek R, Tosounidis I, Mohan M, Madden C, Dodds A, Chandler KE, Banka S, Au L, Clayton-Smith J, Khan N, Biesecker LG, Wilson M, Rohrbach M, Colombi M, Giunta C, Black GCM. Burkitt Wright EMM, et al. Among authors: rohrbach m. Am J Hum Genet. 2011 Jun 10;88(6):767-777. doi: 10.1016/j.ajhg.2011.05.007. Am J Hum Genet. 2011. PMID: 21664999 Free PMC article.
Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta.
Martínez-Glez V, Valencia M, Caparrós-Martín JA, Aglan M, Temtamy S, Tenorio J, Pulido V, Lindert U, Rohrbach M, Eyre D, Giunta C, Lapunzina P, Ruiz-Perez VL. Martínez-Glez V, et al. Among authors: rohrbach m. Hum Mutat. 2012 Feb;33(2):343-50. doi: 10.1002/humu.21647. Epub 2011 Nov 30. Hum Mutat. 2012. PMID: 22052668 Free PMC article.
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
Baumann M, Giunta C, Krabichler B, Rüschendorf F, Zoppi N, Colombi M, Bittner RE, Quijano-Roy S, Muntoni F, Cirak S, Schreiber G, Zou Y, Hu Y, Romero NB, Carlier RY, Amberger A, Deutschmann A, Straub V, Rohrbach M, Steinmann B, Rostásy K, Karall D, Bönnemann CG, Zschocke J, Fauth C. Baumann M, et al. Among authors: rohrbach m. Am J Hum Genet. 2012 Feb 10;90(2):201-16. doi: 10.1016/j.ajhg.2011.12.004. Epub 2012 Jan 19. Am J Hum Genet. 2012. PMID: 22265013 Free PMC article.
211 results