Publications from the Institute of Medical Genetics (Sample)

Authors:Robinson PN, Köhler S, Bauer S, Seelow D, Horn D, Mundlos S

Title:The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

Journal:Am J Hum Genet Year:2008; Volume:83Issue:(5):Pages:610-615.

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

Title:Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

Journal:Nat Genet Year:2008; Volume:40Issue:(12):Pages:1410-1412.

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

Title:Evolution of a core gene network for skeletogenesis in chordates

Journal:PLoS Genet Year:2008; Volume:4Issue:(3):Pages:e1000025.

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

Title:Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2

Journal:Nat Genet Year:2008; Volume:40Issue:(1):Pages:32-34.

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

Title:Multiple roles for neurofibromin in skeletal development and growth

Journal:Hum Mol Genet Year:2007; Volume:16Issue:(8):Pages:874-876.

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

Title:Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

Journal:Am J Hum Genet Year:2007; Volume:80Issue:(2):Pages:232-240.

Authors:Guo G, Booms P, Halushka M, Dietz HC, Ney A, Stricker S, Hecht J, Mundlos S,
Robinson PN

Title:Induction of macrophage chemotaxis by aortic extracts of the mgR Marfan mouse model and a GxxPG-containing fibrillin-1 fragment

Journal:Circulation Year:2006; Volume:114Issue:(17):Pages:1855-1862.

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

Title:Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2

Journal:J Clin Invest Year:2005; Volume:115Issue:(9):Pages:2373-2381.

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

Title:An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression

Journal:J Clin Invest Year:2005; Volume:115Issue:(4):Pages:900-909.

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

Title:Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2

Journal:Proc Natl Acad Sci U S A Year:2003; Volume:100Issue:(21):Pages:12277-12282.