
Publications from the Institute of Medical Genetics (Sample)
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- Authors:Robinson PN, Köhler S, Bauer S, Seelow D, Horn D, Mundlos S
Journal:Am J Hum Genet Year:2008; Volume:83Issue:(5):Pages:610-615.
Title:The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease - Authors:Hennies HC, Kornak U, Zhang H, Egerer J, Zhang X, Seifert W, Kühnisch J, Budde
B, Nätebus M, Brancati F, Wilcox WR, Müller D, Kaplan PB, Rajab A, Zampino G,
Fodale V, Dallapiccola B, Newman W, Metcalfe K, Clayton-Smith J, Tassabehji M, Steinmann B, Barr FA, Nürnberg P, Wieacker P, Mundlos S
Journal:Nat Genet Year:2008; Volume:40Issue:(12):Pages:1410-1412.
Title:Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin - Authors:Hecht J, Stricker S, Wiecha U, Stiege A, Panopoulou G, Podsiadlowski L,
Poustka AJ, Dieterich C, Ehrich S, Suvorova J, Mundlos S, Seitz V
Journal:PLoS Genet Year:2008; Volume:4Issue:(3):Pages:e1000025.
Title:Evolution of a core gene network for skeletogenesis in chordates - Authors:Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, Budde
B, Nürnberg P, Foulquier F; ARCL Debré-type Study Group, Lefeber D, Urban Z,
Gruenewald S, Annaert W, Brunner HG, van Bokhoven H, Wevers R, Morava E, Matthijs G, Van Maldergem L, Mundlos S
Journal:Nat Genet Year:2008; Volume:40Issue:(1):Pages:32-34.
Title:Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2 - Authors:Kolanczyk M, Kossler N, Kühnisch J, Lavitas L, Stricker S, Wilkening U,
Manjubala I, Fratzl P, Spörle R, Herrmann BG, Parada LF, Kornak U, Mundlos S
Journal:Hum Mol Genet Year:2007; Volume:16Issue:(8):Pages:874-876.
Title:Multiple roles for neurofibromin in skeletal development and growth - Authors:Klopocki E, Schulze H, Strauss G, Ott CE, Hall J, Trotier F, Fleischhauer S,
Greenhalgh L, Newbury-Ecob RA, Neumann LM, Habenicht R, König R, Seemanova E, Megarbane A, Ropers HH, Ullmann R, Horn D, Mundlos S
Journal:Am J Hum Genet Year:2007; Volume:80Issue:(2):Pages:232-240.
Title:Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome - Authors:Guo G, Booms P, Halushka M, Dietz HC, Ney A, Stricker S, Hecht J, Mundlos S,
Robinson PN
Journal:Circulation Year:2006; Volume:114Issue:(17):Pages:1855-1862.
Title:Induction of macrophage chemotaxis by aortic extracts of the mgR Marfan mouse model and a GxxPG-containing fibrillin-1 fragment - Authors:Seemann P, Schwappacher R, Kjaer KW, Krakow D, Lehmann K, Dawson K, Stricker
S, Pohl J, Plöger F, Staub E, Nickel J, Sebald W, Knaus P, Mundlos S
Journal:J Clin Invest Year:2005; Volume:115Issue:(9):Pages:2373-2381.
Title:Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2 - Authors:Niedermaier M, Schwabe GC, Fees S, Helmrich A, Brieske N, Seemann P, Hecht J,
Seitz V, Stricker S, Leschik G, Schrock E, Selby PB, Mundlos S
Journal:J Clin Invest Year:2005; Volume:115Issue:(4):Pages:900-909.
Title:An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression - Authors:Lehmann K, Seemann P, Stricker S, Sammar M, Meyer B, Süring K, Majewski F,
Tinschert S, Grzeschik KH, Müller D, Knaus P, Nürnberg P, Mundlos S
Journal:Proc Natl Acad Sci U S A Year:2003; Volume:100Issue:(21):Pages:12277-12282.
Title:Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2