2006
Adam AC, Bornhovd C, Prokisch H, Neupert W, Hell K. The Nfs1 interacting protein Isd11 has an essential role in Fe/S cluster biogenesis in mitochondria. EMBO J 2006,25:174-183.
Codina-Pascual M, Campillo M, Kraus J, Speicher MR, Egozcue J, Navarro J, Benet J. Crossover frequency and synaptonemal complex length: their variability and effects on human male meiosis. Mol Hum Reprod 2006,12:123-133. Epub 2006 Jan.
Elstner M, Bettecken T, Wasner M, Anneser F, Dichgans M, Meitinger T, Gassner T, Klopstock T Familial carpal tunnel syndrome: further evidence for a genetic contribution. Clin Genet 2006,69:179-182.
Fauth C, Gribble SM, Porter KM, Codina-Pascual M, Ng BL, Kraus J, Uhrig S, Leifheit J, Haaf T, Fiegler H, Carter NP, Speicher MR. Micro-array analyses decipher exceptional complex familial chromosomal rearrangement. Hum Genet 2006,3:1-9. Epub ahead of print.
Gloeckner CJ, Kinkl N, Schumacher A, Braun RJ, O'neill E, Meitinger T, Kolch W, Prokisch H, Ueffing M. The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activity. Hum Mol Genet. 2006,15:223-232. Epub 2005 Dec 1.
Hartig MB, Hortnagel K, Garavaglia B, Zorzi G, Kmiec T, Klopstock T, Rostasy K, Svetel M, Kostic VS, Schuelke M, Botz E, Weindl A, Novakovic I, Nardocci N, Prokisch H, Meitinger T. Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation. Ann Neurol 2006,59:248-256.
Hauck SM, Ekstrom PA, Ahuja-Jensen P, Suppmann S, Paquet-Durand F, van Veen T, Ueffing M. Differential Modification of Phosducin Protein in Degenerating rd1 Retina Is Associated with Constitutively Active Ca2+/Calmodulin Kinase II in Rod Outer Segments. Mol Cell Proteomics 2006,2:324-336.
Horvath R, Abicht A, Holinski-Feder E, Laner A, Gempel K, Prokisch H, Lochmuller H, Klopstock T, Jaksch M. Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA). J Neurol Neurosurg Psychiatry 2006,77:74-76.
Huang KM, Wu J, Duncan MK, Moy C, Dutra A, Favor J, Da T, Stambolian D. Xcat, a novel mouse model for Nance-Horan syndrome inhibits expression of the cytoplasmic-targeted Nhs1 isoform. Hum Mol Genet 2006,15:319-327. Epub 2005 Dec 15.
Islinger M, Luers GH, Zischka H, Ueffing M, Volkl A. Insights into the membrane proteome of rat liver peroxisomes: Microsomal glutathione-S-transferase is shared by both subcellular compartments. Proteomics 2006,6:804-816.
Langer S, Geigl JB, Wagenstaller J, Lederer G, Hempel M, Daumer-Haas C, Leifheit HJ, Speicher MR. Delineation of a 2q deletion in a girl with dysmorphic features and epilepsy. Am J Med Genet A 2006,140:764-768.
Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, Gershoni-Baruch R, Albers N, Lichtner P, Schnabel D, Hochberg Z, Strom TM. Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Caused by Mutations in the Sodium-Phosphate Cotransporter Gene SLC34A3. Am J Hum Genet 2006,78:193-201. Epub 2005 Dec 9.
Mayr C, Speicher MR, Kofler DM, Buhmann R, Strehl J, Busch R, Hallek M, Wendtner CM. Chromosomal translocations are associated with poor prognosis in chronic lymphocytic leukemia. Blood 2006,107:742-751.
Paquet-Durand F, Azadi S, Hauck SM, Ueffing M, van Veen T, Ekstrom P. Calpain is activated in degenerating photoreceptors in the rd1 mouse. J Neurochem 2006,96:802-814.
Prokisch H, Andreoli C, Ahting U, Heiss K, Ruepp A, Scharfe C, Meitinger T. MitoP2: the mitochondrial proteome database--now including mouse data. Nucleic Acids Res 2006,34 (Database issue):D705-D711.
Schmitt S, Prokisch H, Schlunck T, Camp DG 2nd, Ahting U, Waizenegger T, Scharfe C, Meitinger T, Imhof A, Neupert W, Oefner PJ, Rapaport D. Proteome analysis of mitochondrial outer membrane from Neurospora crassa. Proteomics 2006,6:72-80.
2005
Ahting U, Waizenegger T, Neupert W, Rapaport D. Signal-anchored proteins follow a unique insertion pathway into the outer membrane of mitochondria. J Biol Chem 2005,280:48-53. Epub 2004 Oct 22.
Asmus F, Schoenian S, Lichtner P, Munz M, Mayer P, Muller-Myhsok B, Zimprich A, Remschmidt H, Hebebrand J, Bandmann O, Gasser T. Epsilon-sarcoglycan is not involved in sporadic Gilles de la Tourette syndrome. Neurogenetics 2005,6:55-56.
Barth AS, Merk S, Arnoldi E, Zwermann L, Kloos P, Gebauer M, Steinmeyer K, Bleich M, Kaab S, Pfeufer A, Uberfuhr P, Dugas M, Steinbeck G, Nabauer M. Functional profiling of human atrial and ventricular gene expression. Pflugers Arch 2005,450:201-208. Epub 2005 May 5.
Baumeister FA, Auer DP, Hortnagel K, Freisinger P, Meitinger T. The eye-of-the-tiger sign is not a reliable disease marker for Hallervorden-Spatz syndrome. Neuropediatrics 2005,36:221-222.
Benet-Pagès A, Orlik P, Strom TM, Lorenz-Depiereux B. An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. Hum Mol Genet 2005,14:385-390.
Berg D, Schweitzer K, Leitner P, Zimprich A, Lichtner P, Belcredi P, Brussel T, Schulte C, Maass S, Nagele T. Type and frequency of mutations in the LRRK2 gene in familial and sporadic Parkinson's disease. Brain 2005,128:3000-3011.
Biskup S, Mueller JC, Sharma M, Lichtner P, Zimprich A, Berg D, Wullner U, Illig T, Meitinger T, Gasser T. Common variants of LRRK2 are not associated with sporadic Parkinson's disease. Ann Neurol 2005,58:905-908.
Bolzer A, Kreth G, Solovei I, Koehler D, Saracoglu K, Fauth C, Muller S, Eils R, Cremer C, Speicher MR, Cremer T. Three-dimensional maps of all chromosomes in human male fibroblast nuclei and prometaphase rosettes. PLoS Biol 2005,3:157 (Epub 2005 Apr 26).
Dichgans M, Freilinger T, Eckstein G, Babini E, Lorenz-Depiereux B, Biskup S, Ferrari MD, Herzog J, van den Maagdenberg AM, Pusch M, Strom TM. Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. Lancet 2005,366:371-377.
Favor J, Shelby MD. Transmitted mutational events induced in mouse germ cells following acrylamide or glycidamide exposure. Mutat Res 2005,580:21-30.
Gailus-Durner V, Fuchs H, Becker L, Bolle I, Brielmeier M, Calzada-Wack J, Elvert R, Ehrhardt N, Dalke C, Franz TJ, Grundner-Culemann E, Hammelbacher S, Holter SM, Holzlwimmer G, Horsch M, Javaheri A, Kalaydjiev SV, Klempt M, Kling E, Kunder S, Lengger C, Lisse T, Mijalski T, Naton B, Pedersen V, Prehn C, Przemeck G, Racz I, Reinhard C, Reitmeir P, Schneider I, Schrewe A, Steinkamp R, Zybill C, Adamski J, Beckers J, Behrendt H, Favor J, Graw J, Heldmaier G, Hofler H, Ivandic B, Katus H, Kirchhof P, Klingenspor M, Klopstock T, Lengeling A, Muller W, Ohl F, Ollert M, Quintanilla-Martinez L, Schmidt J, Schulz H, Wolf E, Wurst W, Zimmer A, Busch DH, de Angelis MH. Introducing the German Mouse Clinic: open access platform for standardized phenotyping. Nat Methods 2005, 6:403-404.
Graw J, Loster J, Puk O, Munster D, Haubst N, Soewarto D, Fuchs H, Meyer B, Nurnberg P, Pretsch W, Selby P, Favor J, Wolf E, Hrabe de Angelis M. Three novel Pax6 alleles in the mouse leading to the same small-eye phenotype caused by different consequences at target promoters. Invest Ophthalmol Vis Sci 2005,46:4671-4683.
Hauck SM, Schoeffmann S, Deeg CA, Gloeckner CJ, Swiatek-de Lange M, Ueffing M. Proteomic analysis of the porcine interphotoreceptor matrix. Proteomics 2005,5:3623-3636.
Jablonski MM, Dalke C, Wang X, Lu L, Manly KF, Pretsch W, Favor J, Pardue MT, Rinchik EM, Williams RW, Goldowitz D, Graw J. An ENU-induced mutation in Rs1h causes disruption of retinal structure and function. Mol Vis 2005,11:569-581.
Klein C, Garcia-Rizo C, Bisle B, Scheffer B, Zischka H, Pfeiffer F, Siedler F, Oesterhelt D. The membrane proteome of Halobacterium salinarum. Proteomics 2005,5:180-197.
Klopstock T, Elstner M, Lucking CB, Muller-Myhsok B, Gasser T, Botz E, Lichtner P, Hortnagel K. Mutations in the pantothenate kinase gene PANK2 are not associated with Parkinson disease. Neurosci Lett 2005,379:195-198.
Koch W, Hoppmann P, Michou E, Jung V, Pfeufer A, Muller J, Meitinger T, Schomig A, Kastrati A. TaqMan assays for genotyping of single nucleotide polymorphisms present at a disease susceptibility locus on chromosome 6. Clin Chem Lab Med 2005,43:167-172.
Koch W, Hoppmann P, Pfeufer A, Mueller JC, Schomig A, Kastrati A. No replication of association between estrogen receptor alpha gene polymorphisms and susceptibility to myocardial infarction in a large sample of patients of European descent. Circulation 2005,112:2138-2142.
Lamina C, Steffens M, Mueller J, Lohmussaar E, Meitinger T, Wichmann HE. Genetic diversity in german and European populations: looking for substructures and genetic patterns. Gesundheitswesen 2005, 67 Suppl 1:127-131.
Langer S, Geigl JB, Ehnle S, Gangnus R, Speicher MR. Live cell catapulting and recultivation does not change the karyotype of HCT116 tumor cells. Cancer Genet Cytogenet 2005,161:174-177.
Langer S, Geigl JB, Gangnus R, Speicher MR Sequential application of interphase-FISH and CGH to single cells. Lab Invest 2005,85:582-592.
Lohmussaar E, Gschwendtner A, Mueller JC, Org T, Wichmann E, Hamann G, Meitinger T, Dichgans M. ALOX5AP gene and the PDE4D gene in a central European population of stroke patients. Stroke 2005,36:731-736 (Epub Feb 24).
Lombardo F, Chiurazzi P, Hortnagel K, Arrigo T, Valenzise M, Meitinger T, Messina MF, Salzano G, Barberi I, De Luca F. Clinical picture, evolution and peculiar molecular findings in a very large pedigree with Wolfram syndrome. J Pediatr Endocrinol Metab 2005,18:1391-1397.
Manson J, Brabec MJ, Buelke-Sam J, Carlson GP, Chapin RE, Favor JB, Fischer LJ, Hattis D, Lees PS, Perreault-Darney S, Rutledge J, Smith TJ, Tice RR, Working P. NTP-CERHR expert panel report on the reproductive and developmental toxicity of acrylamide. Birth Defects Res B Dev Reprod Toxicol 2005,74:17-113 (Review).
Mayr C, Speicher MR, Kofler DM, Buhmann R, Strehl J, Busch R, Hallek M, Wendtner CM.Chromosomal translocations are associated with poor prognosis in chronic lymphocytic leukemia.Blood 2005, Sep 22 (Epub ahead of print).
Mijalski T, Harder A, Halder T, Kersten M, Horsch M, Strom TM, Liebscher HV, Lottspeich F, de Angelis MH, Beckers J. Identification of coexpressed gene clusters in a comparative analysis of transcriptome and proteome in mouse tissues. Proc Natl Acad Sci USA 2005,102:8621-8626 (Epub 2005 Jun 6).
Mueller JC, Fuchs J, Hofer A, Zimprich A, Lichtner P, Illig T, Berg D, Wullner U, Meitinger T, Gasser T. Multiple regions of alpha-synuclein are associated with Parkinson's disease. Ann Neurol 2005,57:535-541.
Mueller JC, Lohmussaar E, Magi R, Remm M, Bettecken T, Lichtner P, Biskup S, Illig T, Pfeufer A, Luedemann J, Schreiber S, Pramstaller P, Pichler I, Romeo G, Gaddi A, Testa A, Wichmann HE, Metspalu A, Meitinger T. Linkage disequilibrium patterns and tagSNP transferability among European populations. Am J Hum Genet 2005,76:387-398 (Epub 2005 Jan 6).
Pfeufer A, Jalilzadeh S, Perz S, Mueller JC, Hinterseer M, Illig T, Akyol M, Huth C, Schopfer-Wendels A, Kuch B, Steinbeck G, Holle R, Nabauer M, Wichmann HE, Meitinger T, Kaab S. Common variants in myocardial ion channel genes modify the QT interval in the general population: results from the KORA study. Circ Res 2005,96:693-701 (Epub 2005 Mar 3).
Pfleghaar K, Heubes S, Cox J, Stemmann O, Speicher MR. Securin is not required for chromosomal stability in human cells. PLoS Biol 2005,3:2127-2134. Epub 2005 Nov 29.
Rivera A, Fisher SA, Fritsche LG, Keilhauer CN, Lichtner P, Meitinger T, Weber BH. Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration contributing independently from complement factor H to disease risk. Hum Mol Genet 2005, 20 (Epub ahead of print)
Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glockner G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S, Muller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T, Gibbs RA, Beck S, Rogers J, Bentley DR The DNA sequence of the human X chromosome. Nature 2005,434:325-337.
Schmitt S, Ahting U, Eichacker L, Granvogl B, Go NE, Nargang FE, Neupert W, Nussberger S. Role of Tom5 in maintaining the structural stability of the TOM complex of mitochondria. J Biol Chem 2005, 280:14499-4506 (Epub 2005 Feb 8).
Speicher MR, Carter NP. The new cytogenetics: blurring the boundaries with molecular biology. Nat Rev Genet 2005,10:782-792.
Stober G, Kohlmann B, Sikiera M, Rubie C, Gawlik M, Moller-Ehrlich K, Meitinger T, Bettecken T. Systematic mutation analysis of KIAA0767 and KIAA1646 in chromosome 22q-linked periodic catatonia. BMC Psychiatry 2005,5:36 (Epub ahead of print).
Von Bubnoff N, Barwisch S, Speicher MR, Peschel C, Duyster J. A cell-based screening strategy that predicts mutations in oncogenic tyrosine kinases: implications for clinical resistance in targeted cancer treatment. Cell Cycle 2005,3:400-406 (Epub 2005 Mar 25).
Wang KS, Zahn LE, Favor J, Huang KM, Stambolian D. Genetic and phenotypic analysis of Tcm, a mutation affecting early eye development. Mamm Genome 2005, 5:332-343.
Winkelmann J, Lichtner P, Putz B, Trenkwalder C, Hauk S, Meitinger T, Strom TM, Muller-Myhsok B. Evidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome. Mov Disord 2005 (Epub ahead of print).
Zischka H, Gloeckner CJ, Klein C, Willmann S, Swiatek-de Lange M, Ueffing M. Improved mass spectrometric identification of gel-separated hydrophobic membrane proteins after sodium dodecyl sulfate removal by ion-pair extraction. Proteomics 2004, 12:3776-3782.
2004
Andreoli C, Prokisch H, Hörtnagel K, Mueller JC, Munsterkotter M, Scharfe C, Meitinger T. MitoP2, an integrated database on mitochondrial proteins in yeast and man. Nucleic Acids Res 2004,32:D459-62.
Benet-Pagès A, Lorenz-Depiereux B, Zischka H, White KE, Econs MJ, Strom TM. FGF23 is processed by proprotein convertases but not by PHEX. Bone 2004,35:455-62.
Bigoni F, Houck ML, Ryder OA, Wienberg J, Stanyon R. Chromosome painting shows that Pygathrix nemaeus has the most basal karyotype among Asian Colobinae. Int J Primatol 2004,25:679-88.
Binder EB, Salyakina D, Lichtner P, Wochnik GM, Ising M, Putz B, Papiol S, Seaman S, Lucae S, Kohli MA, Nickel T, Kunzel HE, Fuchs B, Majer M, Pfennig A, Kern N, Brunner J, Modell S, Baghai T, Deiml T, Zill P, Bondy B, Rupprecht R, Messer T, Kohnlein O, Dabitz H, Bruckl T, Muller N, Pfister H, Lieb R, Mueller JC, Lohmussaar E, Strom TM, Bettecken T, Meitinger T, Uhr M, Rein T, Holsboer F, Muller-Myhsok B. Polymorphisms in FKBP5 are associated with increased recurrence of depressive episodes and rapid response to antidepressant treatment. Nat Genet 2004,36:1319-1325.
Geigl JB, Langer S, Barwisch S, Pfleghaar K, Lederer G, Speicher MR Analysis of gene expression patterns and chromosomal changes associated with aging. Cancer Res 2004,64:8550-8557.
Giehl KA, Eckstein GN, Benet-Pagès A, Tosti A, de Berker DAR, Meitinger M, Müller-Myhsok B, Strom TM. A gene locus responsible for the familial hair shaft abnormality pili annulati maps to chromosome 12q24.32-24.33. J Invest Dermatol 2004,123:1073-1077.
Gross CM, Kramer J, Pfeufer A, Dietz R, Gessner R, Praus M. The intron 6 G/T polymorphism of c-myb oncogene and the risk for coronary in-stent restenosis. Basic Res Cardiol 2004, 99:309-314 (Epub 2004 Apr 16; Erratum in: Basic Res Cardiol 2004, 99:315).
Haubst N, Berger J, Radjendirane V, Graw J, Favor J, Saunders GF, Stoykova A, Gotz M. Molecular dissection of Pax6 function: the specific roles of the paired domain and homeodomain in brain development. Development 2004,131:6131-6140 (Epub 2004 Nov 17).
Jentsch I, Geigl J, Klein CA, Speicher MR. Seven fluorochrome mouse M-FISH for high resolution analysis of interchromosomal rearrangements. Cytogenet Genome Res 2003,103:84-8.
Kaab S, Pfeufer A, Hinterseer M, Nabauer M, Schulze-Bahr E. Long QT syndrome. Why does sex matter? Z Kardiol 2004,93:641-645.
Kaab S, Barth AS, Margerie D, Dugas M, Gebauer M, Zwermann L, Merk S, Pfeufer A, Steinmeyer K, Bleich M, Kreuzer E, Steinbeck G, Nabauer M. Global gene expression in human myocardium-oligonucleotide microarray analysis of regional diversity and transcriptional regulation in heart failure. J Mol Med 2004,82:308-316 (Epub 2004 Apr 23).
Koch W, Mehilli J, Pfeufer A, Schomig A, Kastrati A. Apolipoprotein E gene polymorphisms and thrombosis and restenosis after coronary artery stenting. J Lipid Res 2004,45:2221-2226 (Epub 2004 Oct 1).
Langer S, Kraus J, Jentsch I, Speicher MR. Multicolor chromosome painting in diagnostic and research applications. Chromosome Res 2004,12:15-23.
Lorenz-Depiereux B, Guido VE, Johnson KR, Zheng QY, Gagnon LH, Bauschatz JD, Davisson MT, Washburn LL, Donahue LR, Strom TM, Eicher EM. New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice. Mamm Genome 2004,15:151-161.
Mueller JC, Andreoli C, Prokisch H, Meitinger T. Mechanisms for multiple intracellular localization of human mitochondrial proteins. Mitochondrion 2004,3:315-325
Müller S, Eder V, Wienberg J. A non-redundant multi-color bar code as a screening tool for chromosome rearrangements in neoplastic cells. Genes Chromosomes Cancer 2004,39:59-70.
Prokisch H, Scharfe C, Camp DG 2nd, Xiao W, David L, Andreoli C, Monroe ME, Moore RJ, Gritsenko MA, Kozany C, Hixson KK, Mottaz HM, Zischka H, Ueffing M, Herman ZS, Davis RW, Meitinger T, Oefner PJ, Smith RD, Steinmetz LM. Integrative analysis of the mitochondrial proteome in yeast. PLoS Biol 2004,2:E160.
Rost I, Fiegler H, Fauth C, Carr P, Bettecken T, Kraus J, Meyer C, Enders A, Wirtz A, Meitinger T, Carter NP, Speicher MR. Tetrasomy 21pter-->q21.2 in a male infant without typical Down's syndrome dysmorphic features but moderate mental retardation. J Med Genet 2004,41:e26.
Rost S, Fregin A, Ivaskevicius V, Conzelmann E, Hörtnagel K, Pelz HJ, Lappegard K, Seifried E, Scharrer I, Tuddenham EGD, Müller CR, Strom TM, Oldenburg J. Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. Nature 2004,427:537-541.
Thalhammer S, Langer S, Speicher MR, Heckl WM, Geigl JB. Generation of chromosome painting probes from single chromosomes by laser microdissection and linker-adaptor PCR. Chromosome Res 2004,12:1-7.
Vasiljev A, Ahting U, Nargang FE, Go NE, Habib SJ, Kozany C, Panneels V, Sinning I, Prokisch H, Neupert W, Nussberger S, Rapaport D. Reconstituted TOM core complex and Tim9/Tim10 complex of mitochondria are sufficient for translocation of the ADP/ATP carrier across membranes. Mol Biol Cell 2004,15:1445-58.
Zimprich A, Biskup S, Leitner P, Lichtner P, Farrer M, Lincoln S, Kachergus J, Hulihan M, Uitti RJ, Calne DB, Stoessl AJ, Pfeiffer RF, Patenge N, Carbajal IC, Vieregge P, Asmus F, Muller-Myhsok B, Dickson DW, Meitinger T, Strom TM, Wszolek ZK, Gasser T. Mutations in LRRK2 Cause Autosomal-Dominant Parkinsonism with Pleomorphic Pathology. Neuron 2004,44:601-7.
2003
Alge CS, Suppmann S, Priglinger SG, Neubauer AS, May CA, Hauck S, Welge-Lussen U, Ueffing M, Kampik A. Comparative proteome analysis of native differentiated and cultured dedifferentiated human RPE cells. Invest Ophthalmol Vis Sci. 2003,44:3629-41.
Bader I, Brandau O, Achatz H, Apfelstedt-Sylla E, Hergersberg M, Lorenz B, Wissinger B, Wittwer B, Rudolph G, Meindl A, Meitinger T. X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15. Invest Ophthalmol Vis Sci. 2003,44:1458-63.
Bugiani M, Moroni I, Bizzi A, Nardocci N, Bettecken T, Gartner J, Uziel G. Consciousness disturbances in megalencephalic leukoencephalopathy with subcortical cysts. Neuropediatrics. 2003,34:211-4.
Cremer M, Kupper K, Wagler B, Wizelman L, von Hase J, Weiland Y, Kreja L, Diebold J, Speicher MR, Cremer T. Inheritance of gene density-related higher order chromatin arrangements in normal and tumor cell nuclei. J Cell Biol. 2003,162:809-20.
Elsasser A, Franzen M, Kohlmann A, Weisser M, Schnittger S, Schoch C, Reddy VA, Burel S, Zhang DE, Ueffing M, Tenen DG, Hiddemann W, Behre G. The fusion protein AML1-ETO in acute myeloid leukemia with translocation t(8;21) induces c-jun protein expression via the proximal AP-1 site of the c-jun promoter in an indirect, JNK-dependent manner. Oncogene. 2003,22:5646-57.
Grabowski M, Zimprich A, Lorenz-Depireux B, Kalscheuer V, Asmus F, Gasser T, Meitinger T, Strom TM. The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted. Eur J Hum Genet 2003,11:138-144.
Hauck SM, Suppmann S, Ueffing M. Proteomic profiling of primary retinal Muller glia cells reveals a shift in expression patterns upon adaptation to in vitro conditions. Glia. 2003,44:251-63.
Hortnagel K, Prokisch H, Meitinger T. An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria. Hum Mol Genet. 2003,12:321-7.
Kraus J, Cohen M, Speicher MR. Multicolour FISH fine mapping unravels an insertion as a complex chromosomal rearrangement involving six breakpoints and a 5.89 Mb large deletion. J Med Genet. 2003,40:e60.
Kraus J, Lederer G, Keri C, Seidel H, Rost I, Wirtz A, Fauth C, Speicher MR. A familial unbalanced subtelomeric translocation resulting in monosomy 6q27-->qter. J Med Genet. 2003,40:e48.
Kraus J, Pantel K, Pinkel D, Albertson DG, Speicher MR. High-resolution genomic profiling of occult micrometastatic tumor cells. Genes Chromosomes Cancer 2003,36:159-66.
Maierhofer C, Gangnus R, Diebold J, Speicher MR. Multicolor deconvolution microscopy of thick biological specimens. Am J Pathol. 2003,162:373-9.
Meins M, Burfeind P, Motsch S, Trappe R, Bartmus D, Langer S, Speicher MR, Muhlendyck H, Bartels I, Zoll B. Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome. J Med Genet. 2003,40:e62.
Mokranjac D, Paschen SA, Kozany C, Prokisch H, Hoppins SC, Nargang FE, Neupert W, Hell K. Tim50, a novel component of the TIM23 preprotein translocase of mitochondria. EMBO J. 2003,22:816-25.
Rosemann M, Kuosaite V, Nathrath M, Strom TM, Quintanilla-Martinez L, Richter T, Imai K, Atkinson MJ. Allelic imbalance at intragenic markers of Tbx18 is a hallmark of murine osteosarcoma. Carcinogenesis 2003,24:371-6.
Rubie C, Lichtner P, Gartner J, Siekiera M, Uziel G, Kohlmann B, Kohlschutter A, Meitinger T, Stober G, Bettecken T. Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders? Hum Mutat. 2003,21:45-52.
Rudolph G, Kalpadakis P, Bettecken T, Lichtner P, Haritoglou C, Hergersberg M, Meitinger T, Schmidt H. Spondylo-ocular syndrome: a new entity with crystalline lens malformation, cataract, retinal detachment, osteoporosis, and platyspondyly. Am J Ophthalmol. 2003,135:681-7.
Sichting M, Schell-Steven A, Prokisch H, Erdmann R, Rottensteiner H. Pex7p and Pex20p of Neurospora crassa function together in PTS2-dependent protein import into peroxisomes. Mol Biol Cell. 2003,14:810-21.
Weiland Y, Kraus J, Speicher MR. A multicolor FISH assay does not detect DUP25 in control individuals or in reported positive control cells. Am J Hum Genet. 2003,72:1349-52.
Zischka H, Weber G, Weber PJ, Posch A, Braun RJ, Buhringer D, Schneider U, Nissum M, Meitinger T, Ueffing M, Eckerskorn C. Improved proteome analysis of Saccharomyces cerevisiae mitochondria by free-flow electrophoresis. Proteomics. 2003,3:906-16.
2002
Adler ID, Kliesch U, Jentsch I, Speicher MR. Induction of chromosomal aberrations by dacarbazine in somatic and germinal cells of mice. Mutagenesis 2002,17:383-9.
Asmus F, Zimprich A, Tezenas Du Montcel S, Kabus C, Deuschl G, Kupsch A, Ziemann U, Castro M, Kuhn AA, Strom TM, Vidailhet M, Bhatia KP, Durr A, Wood NW, Brice A, Gasser T. Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype. Ann Neurol 2002,52:489-92.
Bauer M, Meyer M, Brevig T, Gasser T, Widmer HR, Zimmer J, Ueffing M. Lipid-mediated glial cell line-derived neurotrophic factor gene transfer to cultured porcine ventral mesencephalic tissue. Exp Neurol 2002,177:40-9.
Bauer M, Suppmann S, Meyer M, Hesslinger C, Gasser T, Widmer HR, Ueffing M. Glial cell line-derived neurotrophic factor up-regulates GTP-cyclohydrolase I activity and tetrahydrobiopterin levels in primary dopaminergic neurones. J Neurochem 2002,82:1300-10.
Bunz F, Fauth C, Speicher MR, Dutriaux A, Sedivy JM, Kinzler KW, Vogelstein B, Lengauer C. Targeted inactivation of p53 in human cells does not result in aneuploidy. Cancer Res 2002,62:1129-33.
Eggan K, Rode A, Jentsch I, Samuel C, Hennek T, Tintrup H, Zevnik B, Erwin J, Loring J, Jackson-Grusby L, Speicher MR, Kuehn R, Jaenisch R. Male and female mice derived from the same embryonic stem cell clone by tetraploid embryo complementation. Nat Biotechnol 2002,20:455-9.
Froenicke L, Anderson LK, Wienberg J, Ashley T. Male Mouse recombination maps for each autosome identified by chromosome painting. Am J Hum Genet 2002,12:71.
Fuchs F, Prokisch H, Neupert W, Westermann B. Interaction of mitochondria with microtubules in the filamentous fungus Neurospora crassa. J Cell Sci. 2002,115(Pt 9):1931-7.
Golla A, Jansson A, Ramser J, Hellebrand H, Zahn R, Meitinger T, Belohradsky BH, Meindl A. Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22. Eur J Hum Genet 2002,10:217-21.
Graw J, Klopp N, Neuhauser-Klaus A, Favor J, Loster J. Crygf(Rop): the first mutation in the Crygf gene causing a unique radial lens opacity. Invest. Ophthalmol Vis Sci 2002,43:2998-3002.
Graw J, Neuhauser-Klaus A, Loster J, Klopp N, Favor J. Ethylnitrosourea-induced base pair substitution affects splicing of the mouse gammaE-crystallin encoding gene leading to the expression of a hybrid protein and to a cataract. Genetics 2002,161:1633-40.
Lichtner P, Attie-Bitach T, Schuffenhauer S, Henwood J, Bouvagnet P, Scambler PJ, Meitinger T, Vekemans M. Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p. J Mol Med 2002,80:431-42.
Maierhofer C, Jentsch I, Lederer G, Fauth C, Speicher MR. Multicolor FISH in two and three dimensions for clastogenic analyses. Mutagenesis 2002,17:523-7.
Müller JC, Hidde D, Seitz A. Canal construction destroys the barrier between major European invasion lineages of the zebra mussel. Proc R Soc Lond B 2002,269:1139-42.
Prokisch H, Nussberger S, Westermann B. Protein import into mitochondria of Neurospora crassa. Fungal Genet Biol. 2002,36:85-90.
Rosemann M, Lintrop M, Favor J, Atkinson MJ. Bone tumorigenesis induced by alpha-particle radiation: mapping of genetic loci influencing predisposition in mice. Radiat Res 2002,157:426-34.
Schickel J, Stahn K, Zimmer KP, Sudbrak R, Strom TM, Durst M, Kiehntopf M, Deufel T. Gene for integrin-associated protein (IAP, CD47): physical mapping, genomic structure, and expression studies in skeletal muscle. Biochem Cell Biol 2002,80:169-76.
Solakoglu O, Maierhofer C, Lahr G, Breit E, Scheunemann P, Heumos I, Pichlmeier U, Schlimok G, Oberneder R, Kollermann MW, Kollermann J, Speicher MR, Pantel K. Heterogeneous proliferative potential of occult metastatic cells in bone marrow of patients with solid epithelial tumors. Proc Acad Sci USA 2002,99:2246
Steinmetz LM, Scharfe C, Deutschbauer AM, Mokranjac D, Herman ZS, Jones T, Chu AM, Giaever G, Prokisch H, Oefner PJ, Davis RW. Systematic screen for human disease genes in yeast. Nat Genet. 2002,31:400-4.
Wang TL, Maierhofer C, Speicher MR, Lengauer C, Vogelstein B, Kinzler KW, Velculescu VE. Digital karyotyping. Proc Natl Acad Sci USA 2002,99:16156-61.
Wendl T, Lun K, Mione M, Favor J, Brand M, Wilson SW, Rohr KB. Pax2.1 is required for the development of thyroid follicles in zebrafish. Development 2002,129:3751-60.
Westermann B, Prokisch H. Mitochondrial dynamics in filamentous fungi. Fungal Genet Biol. 2002,36:91-7.
Zenker M, Rittinger O, Grosse KP, Speicher MR, Kraus J, Rauch A, Trautmann U. Monosomy 1p36--a recently delineated, clinically recognizable syndrome. Clin Dysmorphol 2002,11:43-8.
2001
Bardelli A, Cahill DP, Lederer G, Speicher MR, Kinzler KW, Vogelstein B, Lengauer C. Carcinogen-specific induction of genetic instability. Proc Natl Acad Sci USA 2001,98:5770-5.
Bassi MT, Bergen AA, Bitoun P, Charles SJ, Clementi M, Gosselin R, Hurst J, Lewis RA, Lorenz B, Meitinger T, Messiaen L, Ramesar RS, Ballabio A, Schiaffino MV. Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America. Hum Genet 2001,108:51-4.
Bauer M, Meyer M, Sautter J, Gasser T, Ueffing M, Widmer HR. Liposome-mediated gene transfer to fetal human ventral mesencephalic explant cultures. Neurosci Lett 2001,308:169-72.
Brown J, Saracoglu K, Uhrig S, Speicher MR, Eils R, Kearney L. Subtelomeric chromosome rearrangements are detected using an innovative 12-color FISH assay (M-TEL). Nat Med 2001,7:497-501.
Fauth C, Bartels I, Haaf T, Speicher MR. Additional dark G-band in the p-arm of chromosome 19 due to a paracentric inversion with a breakpoint in the pericentromeric heterochromatin. Am J Med Genet 2001,103:160-2.
Fauth C, Speicher MR. Classifying by colors: FISH-based genome analysis. Cytogenet Cell Genet 2001,93:1-10.
Favor J, Peters H, Hermann T, Schmahl W, Chatterjee B, Neuhauser-Klaus A, Sandulache R.Molecular characterization of Pax6(2Neu) through Pax6(10Neu): an extension of the Pax6 allelic series and the identification of two possible hypomorph alleles in the mouse Mus musculus. Genetics 2001,159:1689-700.
Gires O, Ueffing M, Hammerschmidt W. Chimeric and mutated variants of LMP1. A helpful tool to analyze the structure-function relationship of a pseudoreceptor. Methods Mol Biol 2001,174:313-23.
Gomez-Zaera M, Strom TM, Rodriguez B, Estivill X, Meitinger T, Nunes V. Presence of a major WFS1 mutation in Spanish wolfram syndrome pedigrees. Mol Genet Metab 2001,72:72-81.
Holinski-Feder E, Muller-Koch Y, Friedl W, Moeslein G, Keller G, Plaschke J, Ballhausen W, Gross M, Baldwin-Jedele K, Jungck M, Mangold E, Vogelsang H, Schackert H, Lohsea P, Murken J, Meitinger T. DHPLC mutation analysis of the hereditary nonpolyposis colon cancer (HNPCC) genes hMLH1 and hMSH2. J Biochem Biophys Methods 2001,47:21-32.
Jallepalli PV, Waizenegger IC, Bunz F, Langer S, Speicher MR, Peters JM, Kinzler KW, Vogelstein B, Lengauer C. Securin is required for chromosomal stability in human cells. Cell 2001,105:445-57.
Jentsch I, Adler ID, Carter NP, Speicher MR. Karyotyping mouse chromosomes by multiplex-FISH (M-FISH). Chromosome Res 2001,9:211-4.
Kruse K, Woelfel D, Strom TM. Loss of Renal Phosphate Wasting in a Child with Autosomal Dominant Hypophosphatemic Rickets Caused by a FGF23 Mutation. Horm Res. 2001;55:305-8.
Langer S, Fauth C, Rocchi M, Murken J, Speicher MR. AcroM fluorescent in situ hybridization analyses of marker chromosomes. Hum Genet 2001,109:152-8.
Langer S, Jentsch I, Gangnus R, Yan H, Lengauer C, Speicher MR. Facilitating haplotype analysis by fully automated analysis of all chromosomes in human-mouse hybrid cell lines. Cytogenet Cell Genet 2001,93:11-5.
Meyer J, Huberth A, Ortega G, Syagailo YV, Jatzke S, Mössner R, Strom TM, Ulzheimer-Teuber I, Stöber G, Schmitt A, Lesch KP. A missense mutation in a novel gene encoding a putative cation channel is associated with catatonic schizophrenia in a large pedigree. Mol Psych. 2001,6:302-306.
Naumann S, Reutzel D, Speicher M, Decker HJ. Complete karyotype characterization of the K562 cell line by combined application of G-banding, multiplex-fluorescence in situ hybridization, fluorescence in situ hybridization, and comparative genomic hybridization. Leuk Res 2001,25:313-22.
Rudolph G, Haritoglou C, Kalpadakis P, Boergen KP, Meitinger T. LEOPARD syndrome with iris-retina-choroid coloboma. Discordant findings in monozygotic twins (MIM # 151 100). Ophthalmologe,2001 98:1101-3.
Rudolph G, Meindl A, Bechmann M, Schworm HD, Achatz H, Boergen KP, Kampik A, Berninger T, Meitinger T. X-linked ocular albinism (Nettleship-Falls): a novel 29-bp deletion in exon 1. Carrier detection by ophthalmic examination and DNA analysis. Graefes Arch. Clin. Exp. Ophthalmol. 2001,239:167-72.
Saracoglu K, Brown J, Kearney L, Uhrig S, Azofeifa J, Fauth C, Speicher MR, Eils R. New concepts to improve resolution and sensitivity of molecular cytogenetic diagnostics by multicolor fluorescence in situ hybridization. Cytometry 2001,44:7-15.
Schmidt H, Rudolph G, Hergersberg M, Schneider K, Moradi S, Meitinger T. Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred - a possible new syndrome. Clin Genet 2001 Feb,59:99-105.
Stover C, Gradl G, Jentsch I, Speicher MR, Wieser R, Schwaeble W. cDNA cloning, chromosome assignment, and genomic structure of a human gene encoding a novel member of the RBM family. Cytogenet Cell Genet 2001,92:225-30.
White KE, Jonsson KB, Carn G, Hampson G, Spector TD, Mannstadt M, Lorenz-Depiereux B, Miyauchi A, Yang IM, Ljunggren Ö, Meitinger T, Strom TM, Jüppner H, Econs MJ. The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause phosphate wasting. J Clin Endocrinol Metab 2001,86:497-500.
White KE, Carn G, Lorenz-Depiereux B, Benet-Pages A, Strom TM, Econs MJ. Autosomal-dominant hypophosphatemic rickets (ADHR) mutations stabilize FGF-23. Kidney Int 2001,60:2079-2086.
Zimprich A, Grabowski M, Asmus F, Naumann M, Berg D, Bertram M, Scheidtmann K, Kern P, Winkelmann J, Muller-Myhsok B, Riedel L, Bauer M, Muller T, Castro M, Meitinger T, Strom TM, Gasser T. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nature Genet 2001,29:66-69.
2000
ADHR Consortium: Group 1: White KE, Evans WB, O'Riordan JLH, Speer MC, Econs MJ. Group 2: Lorenz-Depiereux B, Grabowski M, Meitinger T, Strom TM. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Nature Genet 2000,26:345-348.
Azofeifa J, Fauth C, Kraus J, Maierhofer C, Langer S, Bolzer A, Reichman J, Schuffenhauer S, Speicher MR. An Optimized Probe Set for the Detection of Small Interchromosomal Aberrations by Use of 24-Color FISH. Am J Hum Genet. 2000,66:1684-1688.
Bauer M, Meyer M, Grimm L, Meitinger T, Zimmer J, Gasser T, Ueffing M, Widmer HR. Nonviral glial cell-derived neurotrophic factor gene transfer enhances survival of cultured dopaminergic neurons and improves their function after transplantation in a rat model of Parkinson's disease. Hum Gene Ther 2000,11:1529-1541.
Binder G, Wollmann H, Schwarze CP, Strom TM, Peter M, Ranke MB. X-linked congenital adrenal hypoplasia: new mutations and long-term follow-up in three patients. Clin Endocrinol. 2000,53:249-255.
Castleman KR, Eils R, Morrison L, Piper J, Saracoglu K, Schulze MA, Speicher MR. Classification Accuracy in Multiple Color Fluorescence Imaging Microscopy. Cytometry. 2000,41:139-147
de Angelis MH, Flaswinkel H, Fuchs H, Rathkolb B, Soewarto D, Marschall S, Heffner S, Pargent W, Wuensch K, Jung M, Reis A, Richter T, Alessandrini F, Jakob T, Fuchs E, Kolb H, Kremmer E, Schaeble K, Rollinski B, Roscher A, Peters C, Meitinger T, Strom T, Steckler T, Holsboer F, Klopstock T, Gekeler F, Schindewolf C, Jung T, Avraham K, Behrendt H, Ring J, Zimmer A, Schughart K, Pfeffer K, Wolf E, Balling R. Genome-wide, large-scale production of mutant mice by ENU mutagenesis. Nature Genet. 2000,25:444-447.
Deloukas P, French L, Meitinger T, Moschonas NK. Report of the third international workshop on human chromosome 10 mapping and sequencing 1999. Cytogenet Cell Genet. 2000,90:1-12.
Ebersole TA, Ross A, Clark E, McGill N, Schindelhauer D, Cooke H, Grimes B. Mammalian artificial chromosome formation from circular alphoid input DNA does not require telomere repeats. Hum Mol Genet. 2000, 9: 1623-1631.
Grabowski M, Fauth C, Wirtz A, Speicher MR. Breakpoint within the nucleolus organizer region resulting in a reciprocal translocation t (4;14)(q21;p12). Am J Med Genet. 2000,92:264-8.
Holinski-Feder E, Reyniers E, Uhrig S, Golla A, Wauters J, Kroisel P, Bossuyt P, Rost I, Jedele K, Zierler H, Schwab S, Wildenauer D, Speicher MR, Willems PJ, Meitinger T, Kooy RF. Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3). Am J Hum Genet. 2000,66:16-25.
Kotzot D, Martinez MJ, Bagci G, Basaran S, Baumer A, Binkert F, Brecevic L, Castellan C, Chrzanowska K, Dutly F, Gutkowska A, Karauzum SB, Krajewska-Walasek M, Luleci G, Miny P, Riegel M, Schuffenhauer S, Seidel H, Schinzel A. Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications. J Med Genet. 2000,37:281-6.
Lichtner P, Konig R, Hasegawa T, Van Esch H, Meitinger T, Schuffenhauer S. An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14. J Med Genet. 2000,37:33-7.
Midro AT, Panasiuk B, Stasiewicz-Jarocka B, Iwanowski PS, Fauth C, Speicher MR, Lesniewicz R. Risk Estimates for Carriers of Chromosome Reciprocal Translocation t(4;9)(p15.2;p13). Clin Genet 2000,58:153-155
Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King L, Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola B, Wright M, Meitinger T, Polymeropoulos MH, Goodship J. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nature Genet 2000,24:283-286.
Scharfe C, Zaccaria P, Hoertnagel K, Jaksch M, Klopstock T, Dembowski M, Lill R, Prokisch H, Gerbitz KD, Neupert W, Mewes HW, Meitinger T. MITOP, the mitochondrial proteome database: 2000 update. Nucleic Acids Res. 2000,28:155-8.
Speicher MR, Petersen S, Uhrig S, Jentsch I, Fauth C, Eils R, Petersen I. Analysis of chromosomal alterations in non-small cell lung cancer by multiplex-FISH, comparative genomic hybridization, and multicolor bar coding. Lab Invest 2000,80:1031-1041.
Strom TM. Datenbanken in der Molekularbiologie. Medizinische Genetik 2000,12:407-411.
White KE, Lorenz B, Evans WE, Meitinger T, Strom TM, Econs MJ. Molecular cloning of a novel human UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase, GalNAc-T8, and analysis as a candidate autosomal dominant hypophosphatemic rickets (ADHR) gene. Gene 2000,246:347-356.
Vervoort R, Lennon A, Bird AC, Tulloch B, Axton R, Miano MG, Meindl A, Meitinger T, Ciccodicola A, Wright AF. Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. Nature Genet. 2000,25:462-466.
Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns JP, Van de Ven W, Thakker RV, Devriendt K. GATA3 haplo-insufficiency causes human HDR syndrome. Nature. 2000,406:419-22.
Evans KL, Lawson D, Meitinger T, Blackwood DH, Porteous DJ. Mutational analysis of the Wolfram syndrome gene in two families with chromosome 4p-linked bipolar affective disorder. Am J Med Genet. 2000,96:158-60.
von Gernet S, Golla A, Ehrenfels Y, Schuffenhauer S, Fairley JD. Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery. Clin Genet. 2000,57:137-9.