Ausgewählte Publikationen der letzten 10 Jahre

Kortüm F, Das S, Flindt M, Morris-Rosendahl DJ, Stefanova I, Goldstein A, Horn D, Klopocki E, Kluger G, Martin P, Rauch A, Roumer A, Saitta S, Walsh LE, Wieczorek D, Uyanik G, Kutsche K, Dobyns WB. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet. 2011 Mar 25. [Epub ahead of print]

Borck G, Wunram H, Steiert A, Volk AE, Körber F, Roters S, Herkenrath P, Wollnik B, Morris-Rosendahl DJ, Kubisch C. (2010) A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. Hum Genet. 2011 Jan;129(1): 45-50.

Yis U, Uyanik G, Heck PB, Smitka M, Nobel H, Ebinger F, Dirik E, Feng L, Kurul SH, Brocke K, Unalp A, Ozer E, Cakmakci H, Sewry C, Cirak S, Muntoni F, Hehr U, Morris-Rosendahl DJ.(2010) Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: Less severe mutations predominate in patients with a non-Walker-Warburg phenotype. Neuromuscul Disord. 2011 Jan;21(1): 20-30.

Ekici AB, Hilfinger D, Jatzwauk M, Thiel CT, Wenzel D, Lorenz I, Boltshauser E, Goecke TW, Staatz G, Morris-Rosendahl DJ, Sticht H, Hehr U, Reis A, Rauch A. (2010) Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum. Mol Syndromol.(3): 99-112

Morris-Rosendahl DJ, Segel R, Born AP, Conrad C, Loeys B, Sklower Brooks S, Müller L, Zeschnigk C, Botti C, Rabinowitz R, Uyanik G, Crocq MA, Kraus U, Degen I, Fraes F (2010) Warburg MICRO Syndrome in patients from different ethnic backgrounds: new mutations in the RAB3GAP1 gene and a possible founder effect in the Danish population. Eur J Hum Genet

Morris-Rosendahl DJ, Najm J, Lachmeijer AMA, Sztriha L, Martins M, Kuechler A, Haug V, Zeschnigk C, Martin P, Santos M, Vasconcelos C, Omran H, Kraus U, Van der Knaap MS, Schuierer G, Kutsche K, Uyanik G (2008) Refining the phenotype of a-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly. Clinical Genetics, 74: 425-433.

Uyanik G*, Morris-Rosendahl DJ*, Stiegler J, Klapecki J, Gross C, Berman Y, Martin P, Dey L, Spranger S, Korenke GC, Schreyer I, Hertzberg C, Neumann T, Burkart P, Spaich C, Meng M, Holthausen H, Ades L, Seidel J, Mangold E, Buyse G, Meinecke P, Schara U, Zeschnigk C; Muller D, Helland G, Schulze B, Wright ML, Kortge-Jung S, Hehr A, Bogdahn U, Schuierer G, Kohlhase J, Aigner L, Wolff G, Hehr U, Winkler J (2007) Location and type of mutation in the LIS1 gene do not predict phenotypic severity. Neurology 69(5): 442-447 * equally contributing first authors

Balci B, Morris-Rosendahl DJ, Çelebi, A, Talim B, Topaloğlu H, Dinçer P (2007) Prenatal diagnosis of muscle-eye-brain disease. Prenat Diagn. 27(1):51-54.

Unger S, Mainberger A, Spitz, C Bähr A, Zeschnigk C, Zabel B, Superti-Furga A, Morris-Rosendahl DJ (2007) Filamin A Mutation Is one cause of FG syndrome. Am J Med Genet A 143(16): 1876-1879.

Wittekindt O, Visan V, Tomita H, Imtiaz F, Gargus JJ, Lehmann-Horn F, Grissmer S, Morris-Rosendahl DJ. (2004) An apamin- and scyllatoxin-insensitive isoform of the human SK3 channel. Mol Pharmacol, 65(3): 788-801.

Bauer P, Laccone F, Rolfs A, Wüllner U, Bosch S, Peters H, Liebscher S, Scheible M, Epplen JT, Weber BH, Holinski-Feder E, Weirich-Schwaiger H, Morris-Rosendahl, DJ, Andrich J, Riess O. (2004) Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington’s disease-like phenotype. J Med Genet, 41(3): 230-232.

Wittekindt OH, Dreker T, Morris-Rosendahl DJ, Lehmann-Horn F, Grissmer F. (2004) A novel non-neuronal hSK3 isoform with a dominant-negative effect on hSK3 currents. Cell Physiol. Biochem., 14(1-2): 23-30.

Aigner L, Uyanik G, Couillard-Despres S, Ploetz S, Wolff G, Morris-Rosendahl DJ, Martin P, Eckel U, Spranger S, Otte J, Woerle H, Holthausen H, Apheshiotis N, Flügel D, Winkler J. (2003) Somatic mosaicism and variable penetrance in Doublecortin-associated migration disorders. Neurology, 60(2): 329-332

Morris-Rosendahl D, Wolff G (2003) Klinik, Genetik und Pathogenese der Lissenzephalien. Deutsches Ärzteblatt, 19: A1269-1282.

Bauer I, Gencik M, Laccone F, Peters H, Weber BHF, Holinski Feder E, Weirich H, Morris-Rosendahl DJ, Rolfs A, Gencikova A, Bauer P, Wenning GK, Epplen JT, Holmes SE, Margolis RL, Ross CA, Riess O (2002) Trinucleotide repeat expansions in the junctophilin-3 gene are not found in Caucasian patients with a Huntington disease like phenotype. Annals of Neurology, 51(5): 662.

Staner L, Uyanik G, Correa H, Tremeau F, Monreal J, Crocq M-A, Stefos G, Morris-Rosendahl DJ, Macher JP. (2002) A dimensional impulsive-aggressive phenotype is associated with the A218C polymorphism of the tryptophan hydroxylase gene: A pilot study in well-characterized impulsive inpatients. Am. J. Med. Genet. (Neuropsychiatric Genetics) 114: 553-557.

Bowen T., Williams N., Norton N., Spurlock G., Wittekindt O.H., Morris-Rosendahl D.J., Williams H., Brzustowicz L.,Hoogendoorn B., Zammit S., Jones G., Sanders R.D., Jones L.A., McCarthy G., Jones S., Bassett A., Cardno A.G., Owen M.J., O’Donovan M.C. (2001) Mutation screening of the KCNN3 gene reveals a rare frameshift mutation. Mol. Psychiatry, 6(3) 259-260.