Publikationen 2007 - 1998

Publikationen des Jahres 2007

Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing. |►| Brinckmann, A. • Mischung, C. • Bässmann, I. • Kühnisch, J. • Schuelke, M. • Tinschert, S. • Nürnberg, P. |►| Electrophoresis. 2007 Dec;28(23):4295-301. PMID: 18041031

DNA copy number profiles of gastric cancer precursor lesions.|►| Buffart, T.E. • Carvalho, B. • Mons, T. • Reis, R.M. • Moutinho, C. • Silva, P. • van Grieken, N.C. • Vieth, M. • Stolte, M. • van de Velde C.J. • Schrock, E. • Matthaei, A. • Ylstra, B. • Carneiro, F. • Meijer, G.A. |►| BMC Genomics. 2007 Oct 1;8:345. PMID: 17908304

Analysis of mitochondrial DNA in discordant monozygotic twins with neurofibromatosis type 1. |►| Detjen, A.K. • Tinschert, S. • Kaufmann, D. • Algermissen, B. • Nürnberg, P. • Schuelke, M. |►| Twin Res Hum Genet. 2007 Jun;10(3):486-95. PMID: 17564507

Protein expression profiling in high-risk breast cancer patients treated with high-dose or conventional dose-dense chemotherapy. |►| Diallo-Danebrock, R. • Ting, E. • Gluz, O. • Herr, A. • Mohrmann, S. • Geddert, H. • Rody, A. • Schaefer, K.L. • Baldus, S.E. • Hartmann, A. • Wild, P.J. • Burson, M. • Gabbert, H.E. • Nitz, U. • Poremba, C. |►|
Clin Cancer Res. 2007 Jan 15;13(2 Pt 1):488-97. PMID: 17255270

Analysis of the base excision repair genes MTH1, OGG1 and MUTYH in patients with squamous oral carcinomas. |►| Görgens, H. • Müller, A. • Krüger, S. • Kuhlisch, E. • König, I.R. • Ziegler, A. • Schackert, HK. • Eckelt, U. |►| Oral Oncol. 2007 Sep;43(8):791-5. PMID: 17207658

Molecular cytogenetic characterization of pancreas cancer cell lines reveals high complexity chromosomal alterations. |►| Griffin, C.A. • Morsberger, L. • Hawkins, A.L. • Haddadin, M. • Patel, A. • Ried, T. • Schrock, E. • Perlman, E.J. • Jaffee, E. |►| Cytogenet Genome Res. 2007;118(2-4):148-56. PMID: 18000365

Identification of the human/mouse syntenic common fragile site FRA7K/Fra12C1--relation of FRA7K and other human common fragile sites on chromosome 7 to evolutionary breakpoints. |►| Helmrich, A. • Stout-Weider, K. • Matthaei, A. • Hermann, K. • Heiden, T. • Schrock, E. |►| Int J Cancer 120 (2007) 48-54. PMID: 17039484

Stromelysin-3 over-expression enhances tumourigenesis in MCF-7 and MDA-MB-231 breast cancer cell lines: involvement of the IGF-1 signalling pathway.|►| Kasper, G. • Reule, M. • Tschirschmann, M. • Dankert, N. • Stout-Weider, K. • Lauster, R. • Schrock, E. • Mennerich, D. • Duda, G.N. • Lehmann, K.E. |►| BMC Cancer 7 (2007) 12. PMID: 17233884

Analyzing effects of photodynamic therapy with 5-aminolevulinic acid (ALA) induced protoporphyrin IX (PPIX) in urothelial cells using reverse phase protein arrays. |►| Krieg, R.C. • Herr, A. • Raupach, K. • Ren, Q. • Schwamborn, K. • Knuechel, R. |►| Photochem Photobiol Sci. 2007 Dec;6(12):1296-305. PMID: 18046485

The additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of disease onset in Lynch syndrome patients with pathogenic germline mutations in MSH2 or MLH1. |►| Krüger, S. • Engel, C. • Bier, A. • Silber, A.S. • Görgens, H. • Mangold, E. • Pagenstecher, C. • Holinski-Feder, E. • von Knebel Doeberitz, M. • Royer-Pokora, B. • Dechant, S. • Pox, C. • Rahner, N. • Müller, A. • Schackert, HK. • German HNPCC Consortium. |►| Cancer Lett. 2007 Jul 8;252(1):55-64. PMID: 17224235

Transcription profiling of adult and fetal human neuroprogenitors identifies divergent paths to maintain the neuroprogenitor cell state. |►| Maisel, M. • Herr, A. • Milosevic, J. • Hermann, A. • Habisch, H.J. • Schwarz, S. • Kirsch, M. • Antoniadis, G. • Brenner, R. • Hallmeyer-Elgner, S. • Lerche, H. • Schwarz, J. • Storch A. |►| Stem Cells. 2007 May;25(5):1231-40. PMID: 17218394

Fetal MRI demonstrates glioependymal cyst in a case of sonographic unilateral ventriculomegaly.|►| Mühler, M.R. • Hartmann, C. • Werner, W. • Meyer, O. • Bollmann, R. • Klingebiel, R. |►| Pediatr Radiol. 2007 Apr;37(4):391-5. PMID: 17287953

[Fetal juvenile granulosa cell tumor with hermaphroditism verus - prenatal diagnosis, management and outcome] |►| Nitzsche, K., Kamin, G., Dittert, D.D., Bier, A., Distler, W. |►| Ultraschall Med. 2007 Nov 16. PMID: 18008216

N-Acetyltransferase (NAT) 2 acetylator status and age of tumour onset in patients with sporadic and familial, microsatellite stable (MSS) colorectal cancer.|►| Pistorius, S. • Goergens, H. • Engel, C. • Plaschke, J. • Krueger, S. • Hoehl, R. • Saeger, H.D. • Schackert, H.K. |►|  Int J Colorectal Dis. 2007 Feb;22(2):137-43. PMID: 16896994

Genomic rearrangements in MSH2, MLH1 or MSH6 are rare in HNPCC patients carrying point mutations. |►| Pistorius, S. • Görgens, H. • Plaschke, J. • Hoehl, R. • Krüger, S. • Engel, C. • Saeger, H.D. • Schackert, H.K. |►|
Cancer Lett. 2007 Apr 8;248(1):89-95. PMID:  

6-year experience of concurrent radiochemotherapy with vinorelbine plus a platinum compound in multimorbid or aged patients with inoperable non-small cell lung cancer.|►| Semrau, S. • Bier, A. • Thierbach, U. • Virchow, C. • Ketterer, P. • Klautke, G. • Fietkau, R. |►| Strahlenther Onkol. 2007 Jan;183(1):30-5. PMID: 17225943

Duplication of (12)(pter-q13.3) combined with deletion of (22)(pter-q11.2) in a patient with features of both chromosome aberrations. |►| Tyshchenko, N.A. • Riegel, M. • Evseenkova, E.G. • Zerova, T.E. • Gorovenko, N.G. • Schinzel, A. |►|  Eur J Med Genet. 2007 Mar-Apr;50(2):128-32. PMID: 17174617

Publikationen des Jahres 2006

Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients.|►| Wimmer, K. • Yao, S. • Claes, K. • Kehrer-Sawatzki, H. • Tinschert, S.* • De Raedt, T. • Legius, E. • Callens,T. • Beiglböck, H. • Maertens, O. • Messiaen, L. |►| Genes Chromosomes Cancer 45 (2006): 265 - 276. PMID: 16283621

Mutations in TITF1 are not relevant to sporadic and familial chorea of unknown cause.|►| Bauer, P. • Kreuz, F.R. • Bürk, K. • Saft, C. • Andrich, J. • Heilemann, H. • Riess, O. • Schöls, L. |►| Mov Disord. 2006 Oct;21(10):1734-7. PMID: 16830318

High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia.|►| Beetz, C. • Nygren, A.O. • Schickel, J. • Auer-Grumbach, M. • Bürk, K. • Heide, G. • Kassubek, J. • Klimpe, S. • Klopstock, T. • Kreuz, F. • Otto, S. • Schüle, R. • Schöls, L. • Sperfeld, A.D. • Witte, O.W. • Deufel, T. |►|  Neurology. 2006 Dec 12;67(11):1926-30. PMID: 17035675

C-kit expression in high-risk breast cancer subgroup treated with high-dose or conventional dose-dense chemotherapy.|►| Diallo, R. • Ting, E. • Gluz, O. • Herr, A. • Schütt, G. • Geddert, H. • Mohrmann, S. • Gabbert, H.E. • Nitz, U. • Poremba, C. |►| Verh Dtsch Ges Pathol. 2006;90:177-85. PMID: 17867595

In acute leukemia, the polymorphism -211C>T in the promoter region of the multidrug resistance-associated protein 3 (MRP3) does not determine the expression level of the gene.|►| Doerfel, C. • Rump, A. • Sauerbrey, A. • Gruhn, B. • Zintl, F. • Steinbach, D. |►| Pharmacogenet Genomics 16 (2006) 149-150. PMID: 16424827

Communicating BRCA1 and BRCA2 genetic test results.|►| Gadzicki, D. • Wingen, L.U. • Teige, B. • Horn, D. • Bosse, K. • Kreuz, F. • Goecke, T. • Schafer, D. • Voigtlander, T. • Fischer, B. • Froster, U. • Welling, B. • Debatin, I. • Weber, B.H. • Schonbuchner, I. • Nippert, I. • Schlegelberger, B. |►| J Clin Oncol 24 (2006) 2969-70; author reply 2970-1. PMID: 16782939

Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature.|►| Gedicke, M.M. • Traupe, H. • Fischer, B. • Tinschert, S. • Hennies, H.C. |►|  Br J Dermatol 154 (2006) 167-71. PMID: 16403113

Genotype-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syndrome: a report by the German HNPCC Consortium |►| Goecke, T. • Schulmann, K. • Engel, C. • Holinski-Feder, E. • Pagenstecher, C. • Schackert, H.K. • Kloor, M. • Kunstmann, E. • Vogelsang, H. • Keller, G. • Dietmaier, W. • Mangold, E. • Friedrichs, N. • Propping, P. • Kruger, S. • Gebert, J. • Schmiegel, W. • Rueschoff, J. • Loeffler, M. • Moeslein, G. |►|  J Clin Oncol 24 (2006) 4285-92. PMID: 16908935

Microsatellite stable colorectal cancers in clinically suspected hereditary nonpolyposis colorectal cancer patients without vertical transmission of disease are unlikely to be caused by biallelic germline mutations in MYH. |►| Goergens, H. • Krueger, S. • Kuhlisch, E. • Pagenstecher, C. • Hoehl, R. • Schackert, H.K. • Mueller, A. |►|
J Mol Diagn 8 (2006) 178-82. PMID: 16645203

Common fragile sites are conserved features of human and mouse chromosomes and relate to large active genes.|►| Helmrich, A. • Stout-Weider, K. • Hermann, K. • Schrock, E. • Heiden, T. |►| Genome Res 16 (2006) 1222-30. PMID: 16954539

Microarray analyses in bladder cancer cells: inhibition of hTERT expression down-regulates EGFR. |►| Kraemer, K. • Schmidt, U. • Fuessel, S. • Herr, A. • Wirth, M.P. • Meye, A. |►| Int J Cancer 119 (2006) 1276-84. PMID: 16615118

Absence of association between cyclin D1 (CCND1) G870A polymorphism and age of onset in hereditary nonpolyposis colorectal cancer.|►| Kruger, S. • Engel, C. • Bier, A. • Mangold, E. • Pagenstecher, C. • Doeberitz, M.K. • Holinski-Feder, E. • Moeslein, G. • Keller, G. • Kunstmann, E. • Friedl, W. • Plaschke, J. • Ruschoff, J. • Schackert, H.K. |►| Cancer Lett 236 (2006) 191-7. PMID: 16832876

The c-kit (CD117) sequence variation M541L, but not N564K, is frequent in the general population, and is not associated with CML in Caucasians. |►|Kruger, S. • Emig, M. • Lohse, P. • Ehninger, G. • Hochhaus, A. • Schackert, H.K. |►| 2006 Feb;20(2):354-5; discussion 356-7. PMID: 16307017

Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.|►| Lee-Kirsch, M.A. • Gong, M. • Schulz, H, Rüschendorf, F. • Stein, A. • Pfeiffer, C. • Ballarini, A. • Gahr, M. • Hubner, N. • Linné, M. |►| Am J Hum Genet. 2006 Oct;79(4):731-7. PMID: 16960810

Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease. |►| Metzger, S. • Bauer, P. • Tomiuk, J. • Laccone, F. • Didonato, S. • Gellera, C. • Mariotti, C. • Lange, H.W. • Weirich-Schwaiger, H. • Wenning, G.K. • Seppi, K. • Melegh, B. • Havasi, V. • Balikó, L. • Wieczorek, S. • Zaremba, J. • Hoffman-Zacharska, D. • Sulek, A. • Basak, A.N. • Soydan, E. • Zidovska, J. • Kebrdlova, V. • Pandolfo, M. • Ribaï, P. • Kadasi, L. • Kvasnicova, M. • Weber, B.H. • Kreuz, F. • Dose, M. • Stuhrmann, M. • Riess O. |►| Hum Genet. 2006 Sep;120(2):285-92. PMID: 16847693

Biochemical data in ornithine transcarbamylase deficiency (OTCD) carrier risk estimation: logistic discrimination and combination with genetic information. |►| Oexle, K. |►| J Hum Genet (2006) 51(3):204-208.PMID: 16453063

Calculation of the reliability of the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency. |►| Oexle, K. |►| J Inherit Metab Dis 29 (2006) 241. PMID: 16601906

Useful probability considerations in genetics: the goat problem with tigers and other applications of Bayes' theorem. |►| Oexle, K. |►| Eur J Pediatr 165 (2006) 299-305. PMID: 16463135

Über einige historische und einige hypothetische Verbindungen von Quantentheorie und Biologie.|►| Oexle, K. |►| Plurale 6 (2006) 151-73.

N-acetyltransferase (NAT) 2 acetylator status and age of onset in patients with hereditary nonpolyposis colorectal cancer (HNPCC). |►| Pistorius, S. • Gorgens, H. • Kruger, S. • Engel, C. • Mangold, E. • Pagenstecher, C. • Holinski-Feder, EvMoeslein, G. • von Knebel Doeberitz, M. • Ruschoff, J. • Karner-Hanusch, J. • Saeger, H.D. • Schackert, H.K. • The German, Hnpcc.Consortium. |►| Cancer Lett 241 (2006) 150-7. PMID: 16337339

Occult endometrial cancer and decision making for prophylactic hysterectomy in hereditary nonpolyposis colorectal cancer patients.|►|Pistorius, S. • Kruger, S. • Hohl, R. • Plaschke, J. • Distler, W. • Saeger, H.D. • Schackert, H.K. |►| Gynecol Oncol 102 (2006) 189-94. PMID: 16476474

Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor. |►| Plaschke, J. • Linnebacher, M. • Kloor, M. • Gebert, J. • Cremer, F.W. • Tinschert, S., Aust, D.E. • von Knebel Doeberitz, M. • Schackert, H.K. |►| Eur J Hum Genet 14 (2006) 561-6. PMID: 16418736

Publikationen des Jahres 2005

Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.|►| Ai, M., Heeger, S., Bartels, C.F., Schelling, D.K. |►| Am J Hum Genet 77 (2005) 741-53. PMID: 16252235

A region on human chromosome 4 (q35.1-->qter) induces senescence in cell hybrids and is involved in cervical carcinogenesis.|►|Backsch, C., Rudolph, B., Kuhne-Heid, R., Kalscheuer, V., Bartsch, O., Jansen, L., Beer, K., Meyer, B., Schneider, A., Durst, M. |►| Genes Chromosomes Cancer 43 (2005) 260-72. PMID: 15838843

DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS.|►| Bartsch, O., Schmidt, S., Richter, M., Morlot, S., Seemanova, E., Wiebe, G., Rasi, S. |►| Hum Genet 117 (2005) 485-93. PMID: 16021471

FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited SMC(22).|►| Bartsch, O., Rasi, S., Hoffmann, K., Blin, N. |►| Eur J Hum Genet 13 (2005) 592-8. PMID: 15756300

Forty-two supernumerary marker chromosomes (SMCs) in 43,273 prenatal samples: chromosomal distribution, clinical findings, and UPD studies.|►| Bartsch, O., Loitzsch, A., Kozlowski, P., Mazauric, M.L., Hickmann, G. |►| Eur J Hum Genet 13 (2005) 1192-204. PMID: 16077735

Kommentar zur Kasuistik Klinefelter-Partienten: Nur selten mental retardiert und psychisch auffällig!|►| Bier, A. |►| DNP 9 (2005) 3.

Microsatellite analysis of hereditary nonpolyposis colorectal cancer-associated colorectal adenomas by laser-assisted microdissection: correlation with mismatch repair protein expression provides new insights in early steps of tumorigenesis.|►| Giuffre, G., Muller, A., Kreuz, F., Bier, A., Brodegger, T., Bocker-Edmonston, T., Gebert, J., Kloor, M., Dietmaier, W., Kullmann, F., Buttner, R., Tuccari, G., Ruschoff, J. |►| J Mol Diagn 7 (2005) 160-70. PMID: 15858139

Recurrent chromosomal aberrations in INK4a/ARF defective primary lymphomas predict drug responses in vivo.|►| Helmrich, A., Lee, S., O'Brien, P., Dorken, B., Lowe, S.W., Schrock, E., Schmitt, C.A. |►|

Human Latrophilin-2 is expressed in the Cytotrophoblast and Syncytiotrophoblast of Placenta and in Endothelial Cells.|►| Herberth, G., Stein, A., Glienke, J., Taudien, S., Klaman, I., Herr, A., Thierauch, K.H., Sommer, A. |►| American Journal of Biochemistry and Biotechnology 3 (2005) 136-45.

Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).|►| Wieland, I. • Reardon, W. • Jakubiczka, S. • Franco, B. • Kress, W. • Vincent-Delorme, C. • Thierry, P. • Edwards,M. • König, R. • Rusu, C. • Schweiger, S. • Thompson, E. • Tinschert, S.* • Stewart, F. • Wieacker, P. |►| Hum Mutat 26, (2005)  113 - 118. PMID: 15959873

Centromeric chromosomal translocations show tissue-specific differences between squamous cell carcinomas and adenocarcinomas.|►| Hermsen, M., Snijders, A., Guervos, M.A., Taenzer, S., Koerner, U., Baak, J., Pinkel, D., Albertson, D., van Diest, P., Meijer, G., Schrock, E. |►| Oncogene 24 (2005) 1571-9. PMID: 15674345

High-resolution analysis of chromosomal imbalances using the Affymetrix 10K SNP genotyping chip.|►| Herr, A., Grutzmann, R., Matthaei, A., Artelt, J., Schrock, E., Rump, A., Pilarsky, C. |►| Genomics 85 (2005) 392-400. PMID: 15718106

Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.|►| Horn, D., Chyrek, M., Kleier, S., Luttgen, S., Bolz, H., Hinkel, G.K., Korenke, G.C., Riess, A., Schell-Apacik, C., Tinschert, S., Wieczorek, D., Gillessen-Kaesbach, G., Kutsche, K. |►| Eur J Hum Genet 13 (2005) 563-569. PMID: 15770227

Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures.|►| Kaindl, A.M., Jakubiczka, S., Lucke, T., Bartsch, O., Weis, J., Stoltenburg-Didinger, G., Aksu, F., Oexle, K., Koehler, K., Huebner, A. |►| Hum Mutat 26 (2005) 279-80. PMID: 16088906

Expression levels of the putative zinc transporter LIV-1 are associated with a better outcome of breast cancer patients.|►| Kasper, G., Weiser, A.A., Rump, A., Sparbier, K., Dahl, E., Hartmann, A., Wild, P., Schwidetzky, U., Castanos-Velez, E., Lehmann, K. |►| Int J Cancer 117 (2005) 961-73. PMID: 15986450

Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL and age of onset of hereditary non-polyposis colorectal cancer: a case-control study.|►| Kruger, S., Silber, A.S., Engel, C., Gorgens, H., Mangold, E., Pagenstecher, C., Holinski-Feder, E., von Knebel Doeberitz, M., Moeslein, G., Dietmaier, W., Stemmler, S., Friedl, W., Ruschoff, J.,  Schackert, H.K. |►| Lancet Oncol 6 (2005) 566-72. PMID: 16054567

The p53 codon 72 variation is associated with the age of onset of hereditary non-polyposis colorectal cancer (HNPCC).|►| Kruger, S., Bier, A., Engel, C., Mangold, E., Pagenstecher, C., von Knebel Doeberitz, M., Holinski-Feder, E., Moeslein, G., Schulmann, K., Plaschke, J., Ruschoff, J., Schackert, H.K. |►|  J Med Genet 42 (2005) 769-73. PMID: 16199549

Klinische Variabilität bei Mutationen im p63-Gen.|►| Lehmann, K., Tinschert, S., Leschik, G., Wahl, D., Mundlos, S. |►| Monatsschrift Kinderheilkunde (2005).

Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.|►| Mangold, E., Pagenstecher, C., Friedl, W., Mathiak, M., Buettner, R., Engel, C., Loeffler, M., Holinski-Feder, E., Muller-Koch, Y., Keller, G., Schackert, H.K., Kruger, S., Goecke, T., Moeslein, G., Kloor, M., Gebert, J., Kunstmann, E., Schulmann, K., Ruschoff, J., Propping, P. |►| Int J Cancer 116 (2005) 692-702. PMID: 15849733

Small reciprocal insertion detected by spectral karyotyping (SKY) and delimited by array-CGH analysis. |►| Matthaei, A., Werner, W., Gerlach, E.M., Koerner, U., Tinschert, S., Nitz, I., Herr, A., Rump, A., Bartsch, O., Hinkel, K.G., Schrock, E., Oexle, K. |►| Eur J Med Genet 48 (2005) 328-38. PMID: 16179228

Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion.|►| Oexle, K., Thamm-Mucke, B., Mayer, T., Tinschert, S. |►| Eur J Pediatr 164 (2005) 154-7. PMID: 15558314

Reply to "Should a syndrome be called by its correct name? The example of the preserved speech variant of Rett syndrome" by Zappella et al.|►| Oexle, K., Thamm-Mucke, B., Mayer, T., Tinschert, S. |►| Eur J Pediatr 164 (2005) 711-712.

A girl with inverted triplication of chromosome 3q25.3 --> q29 and multiple congenital anomalies consistent with 3q duplication syndrome. |►| Ounap, K., Ilus, T., Bartsch, O. |►| Am J Med Genet A 134 (2005) 434-8. PMID: 15793836

A new case of 2q duplication supports either a locus for orofacial clefting between markers D2S1897 and D2S2023 or a locus for cleft palate only on chromosome 2q13-q21. |►| Ounap, K., Ilus, T., Laidre, P., Uibo, O., Tammur, P., Bartsch, O. |►| Am J Med Genet A 137 (2005) 323-7. PMID: 16094674

Cytogenetic characterization of a BCR-ABL transduced mouse cell line. |►| Rudolph, C., Hegazy, A.N., von Neuhoff, N., Steinemann, D., Schrock, E., Stripecke, R., Klein, C., Schlegelberger, B. |►| Cancer Genet Cytogenet 161 (2005) 51-6. PMID: 16080957

HNPCC-associated small bowel cancer: clinical and molecular characteristics. |►| Schulmann, K., Brasch, F.E., Kunstmann, E., Engel, C., Bier, A., Kreuz, F., Pagenstecher, C., Vogelsang, H., Kruger, S., Vogel, T., Knaebel, H.P., Ruschoff, J., Hahn, S.A., Knebel-Doeberitz, M.V., Moeslein, G., Meltzer, S.J., Schackert, H.K., Tympner, C., Mangold, E., Schmiegel, W. |►|  Gastroenterology 128 (2005) 590-9. PMID: 15765394

Nijmegen Breakage Syndrome (NBS) with neurological abnormalities and without chromosomal instability. |►| Seemanova, E., Sperling, K., Neitzel, H., Varon, R., Hadac, J., Butova, O., Schrock, E., Seeman, P., Digweed, M. |►| J Med Genet (2005). PMID: 16033915

Full-genome RNAi profiling of early embryogenesis in Caenorhabditis elegans.|►| Sonnichsen, B., Koski, L.B., Walsh, A., Marschall, P., Neumann, B., Brehm, M., Alleaume, A.M., Artelt, J., Bettencourt, P., Cassin, E., Hewitson, M., Holz, C., Khan, M., Lazik, S., Martin, C., Nitzsche, B., Ruer, M., Stamford, J., Winzi, M., Heinkel, R., Roder, M., Finell, J., Hantsch, H., Jones, S.J., Jones, M., Piano, F., Gunsalus, K.C., Oegema, K., Gonczy, P., Coulson, A., Hyman, A.A., Echeverri, C.J. |►| Nature 434 (2005) 462-9. PMID: 15791247

Childhood overgrowth in patients with common NF1 microdeletions.|►| Spiegel, M., Oexle, K., Horn, D., Windt, E., Buske, A., Albrecht, B., Prott, E.C., Seemanova, E., Seidel, J., Rosenbaum, T., Jenne, D., Kehrer-Sawatzki, H., Tinschert, S. |►| Eur J Hum Genet 13 (2005) 883-8. PMID: 15856072

Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).|►| Wieland, I., Reardon, W., Jakubiczka, S., Franco, B., Kress, W., Vincent-Delorme, C., Thierry, P., Edwards, M., Konig, R., Rusu, C., Schweiger, S., Thompson, E., Tinschert, S., Stewart, F., Wieacker, P. |►| Hum Mutat 26 (2005) 113-8. PMID: 15959873

Gene expression profiling of progressive papillary noninvasive carcinomas of the urinary bladder.|►| Wild, P.J., Herr, A., Wissmann, C., Stoehr, R., Rosenthal, A., Zaak, D., Simon, R., Knuechel, R., Pilarsky, C., Hartmann, A. |►| Clin Cancer Res 11 (2005) 4415-29. PMID: 15958626

Clinical and mutational spectrum of Mowat-Wilson syndrome. |►| Zweier, C., Thiel, C.T., Dufke, A., Crow, Y.J., Meinecke, P., Suri, M., Ala-Mello, S., Beemer, F., Bernasconi, S., Bianchi, P., Bier, A., Devriendt, K., Dimitrov, B., Firth, H., Gallagher, R.C., Garavelli, L., Gillessen-Kaesbach, G., Hudgins, L., Kaariainen, H., Karstens, S., Krantz, I., Mannhardt, A., Medne, L., Mucke, J., Kibaek, M., Krogh, L.N., Peippo, M., Rittinger, O., Schulz, S., Schelley, S.L., Temple, I.K., Dennis, N.R., Van der Knaap, M.S., Wheeler, P., Yerushalmi, B., Zenker, M., Seidel, H., Lachmeijer, A., Prescott, T., Kraus, C., Lowry, R.B., Rauch, A. |►| Eur J Med Genet 48 (2005) 97-111. PMID: 16053902

Publikationen des Jahres 2004

Craniofacial hyperostoses in Proteus syndrome -- a case report.|►| Adolphs, N., Tinschert, S., Bier, J., Klein, M. |►| J Craniomaxillofac Surg 32 (2004) 391-4. PMID: 15555524

A 15-year-old boy with Rubinstein-Taybi syndrome associated with severe congenital malalignment of the toenails. |►| Balci, S., Bostanci, S., Ekmekci, P., Cebeci, I., Bokesoy, I., Bartsch, O., Gurgey, E. |►| Pediatr Dermatol 21 (2004) 44-7. PMID: 14871325

Der Genetische Wissensindex (GeWi) Ein Instrument zur Erfassung des allgemeinen Wissens über Genetik.|►| Berth, H., Dinkel, A., Kreuz, F.R., Balck, F. |►|  Z Med Psychol 13 (2004) 21-28

Mild phenotype in two unrelated patients with a partial deletion of 21q22.2-q22.3 defined by FISH and molecular studies.|►| Ehling, D., Kennerknecht, I., Junge, A., Prager, B., Exeler, R., Behre, B., Horst, J., Schmitt-John, T., Bartsch, O., Wirth, J. |►| Am J Med Genet A 131 (2004) 265-72. PMID: 15534873

Das Chip-Zeitalter: Gegenwertiger Stand der Technik und Einsatzmöglichkeiten der ChipTechnologie in der Onkologie. |►| Herr, A., Matthäi, A., Rump, A., Wölfl, S., Schröck, E. |►| Der Onkologe 10 (2004) 7-19.

Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3. |►| Horn, D., Tonnies, H., Neitzel, H., Wahl, D., Hinkel, G.K., von Moers, A., Bartsch, O. |►| Am J Med Genet A 128 (2004) 85-92. PMID: 15211664

Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing. |►| Hubner, C.A., Utermann, B., Tinschert, S., Kruger, G., Ressler, B., Steglich, C., Schinzel, A., Gal, A. |►| Hum Mutat 23 (2004) 526. PMID: 15108295

Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene. |►| Kluwe, L., Siebert, R., Gesk, S., Friedrich, R.E., Tinschert, S., Kehrer-Sawatzki, H., Mautner, V.F. |►| Hum Mutat 23 (2004) 111-6. PMID: 14722914

Ten novel MSH2 and MLH1 germline mutations in families with HNPCC. |►| Kruger, S., Bier, A., Plaschke, J., Hohl, R., Aust, D.E., Kreuz, F.R., Pistorius, S.R., Saeger, H.D., Rothhammer, V., Al-Taie, O., Schackert, H.K. |►| Hum Mutat 24 (2004) 351-2. PMID: 15365996

Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant. |►| Laass, M.W., Spiegel, M., Jauch, A., Hahn, G., Rupprecht, E., Vogelberg, C., Bartsch, O., Huebner, A. |►| Pediatr Nephrol 19 (2004) 602-8. PMID: 15007723

Challenges and pitfalls in HNPCC screening by microsatellite analysis and immunohistochemistry. |►| Muller, A., Giuffre, G., Edmonston, T.B., Kreuz, F., Bier, A., Mathiak, M., Roggendorf, B., Heinmoller, E., Brodegger, T., Tuccari, G., Mangold, E., Buettner, R., Ruschoff, J. |►| J Mol Diagn 6 (2004) 308-15. PMID: 15507669

cDNA cloning and characterization of the human THRAP2 gene which maps to chromosome 12q24, and its mouse ortholog Thrap2. |►| Musante, L., Bartsch, O., Ropers, H.H., Kalscheuer, V.M. |►| Gene 332 (2004) 119-27. PMID: 15145061

Unexpected death of a 12 year old boy with monosomy 1p36.|►| Neumann, L.M., Polster, T., Spantzel, T., Bartsch, O. |►| Genet Couns 15 (2004) 19-26. PMID: 15083695

Dyschromatosis universalis hereditaria: familial case and ultrastructural skin investigation.|►| Nuber, U.A., Tinschert, S., Mundlos, S., Hauber, I. |►| Am J Med Genet A 125 (2004) 261-6. PMID: 14994234

Three patients with 9p deletions including DMRT1 and DMRT2: a girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development. |►| Ounap, K., Uibo, O., Zordania, R., Kiho, L., Ilus, T., Oiglane-Shlik, E., Bartsch, O. |►| Am J Med Genet A 130 (2004) 415-23. PMID: 15481033

Two sisters with Silver-Russell phenotype. |►| Ounap, K., Reimand, T., Magi, M.L., Bartsch, O. |►| Am J Med Genet A 131 (2004) 301-6. PMID: 15481033

Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue. |►| Plaschke, J., Kruger, S., Dietmaier, W., Gebert, J., Sutter, C., Mangold, E., Pagenstecher, C., Holinski-Feder, E., Schulmann, K., Moslein, G., Ruschoff, J., Engel, C., Evans, G., Schackert, H.K. |►| Hum Mutat 23 (2004) 285. PMID: 14974087

Loss of MSH3 protein expression is frequent in MLH1-deficient colorectal cancer and is associated with disease progression. |►| Plaschke, J., Kruger, S., Jeske, B., Theissig, F., Kreuz, F.R., Pistorius, S., Saeger, H.D., Iaccarino, I., Marra, G., Schackert, H.K. |►| Cancer Res 64 (2004) 864-70. PMID: 14871813

Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium. |►| Plaschke, J., Engel, C., Kruger, S., Holinski-Feder, E., Pagenstecher, C., Mangold, E., Moeslein, G., Schulmann, K., Gebert, J., von Knebel Doeberitz, M., Ruschoff, J., Loeffler, M., Schackert, H.K. |►| J Clin Oncol 22 (2004) 4486-94. PMID: 15483016

Hypertrichosis, hyperkeratosis, abnormal corpus callosum, mental retardation and dysmorphic features in three unrelated females. |►| Poyhonen, M.H., Peippo, M.M., Valanne, L.K., Kuokkanen, K.E., Koskela, S.M., Bartsch, O., Rasi, S., Wiebe, G.J., Kahkonen, M., Kaariainen, H.A. |►| Clin Dysmorphol 13 (2004) 85-90. PMID: 15057123

Molecular cytogenetic characterization of the mantle cell lymphoma cell line GRANTA-519. |►| Rudolph, C., Steinemann, D., Von Neuhoff, N., Gadzicki, D., Ripperger, T., Drexler, H.G., Mrasek, K., Liehr, T., Claussen, U., Emura, M., Schrock, E., Schlegelberger, B. |►| Cancer Genet Cytogenet 153 (2004) 144-50. PMID: 15350304

Retinoblastoma, pinealoma, and mild overgrowth in a boy with a deletion of RB1 and neighbor genes on chromosome 13q14. |►| Skrypnyk, C., Bartsch, O. |►| Am J Med Genet A 124 (2004) 397-401. PMID: 14735589

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. |►| Teber, O.A., Gillessen-Kaesbach, G., Fischer, S., Bohringer, S., Albrecht, B., Albert, A., Arslan-Kirchner, M., Haan, E., Hagedorn-Greiwe, M., Hammans, C., Henn, W., Hinkel, G.K., Konig, R., Kunstmann, E., Kunze, J., Neumann, L.M., Prott, E.C., Rauch, A., Rott, H.D., Seidel, H., Spranger, S., Sprengel, M., Zoll, B., Lohmann, D.R., Wieczorek, D. |►| Eur J Hum Genet 12 (2004) 879-90. PMID: 15340364

Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy. |►| Tinschert, S., Ruf, N., Bernascone, I., Sacherer, K., Lamorte, G., Neumayer, H.H., Nurnberg, P., Luft, F.C., Rampoldi, L. |►| Nephrol Dial Transplant 19 (2004) 3150-4. PMID: 15575003

Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33.|►| Walter, S., Sandig, K., Hinkel, G.K., Mitulla, B., Ounap, K., Sims, G., Sitska, M., Utermann, B., Viertel, P., Kalscheuer, V., Bartsch, O. |►| Am J Med Genet A 128 (2004) 364-73. PMID: 15264281

Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects. |►| Wuyts, W., Waeber, G., Meinecke, P., Schuler, H., Goecke, T.O., Van Hul, W., Bartsch, O. |►| Eur J Hum Genet 12 (2004) 400-6. PMID: 14872200

Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy. |►| Tinschert, S. • Ruf, N. • Bernascone, I. • Sacherer, K. • Lamorte, G. • Neumayer, H.H. • Nürnberg, P. • Luft, F.C. • Rampoldi, L. |►| Nephrol Dial Transplant 19 (2004), 3150 - 3154. PMID: 15575003

Failure to detect DUP25 in lymphoblastoid cells derived from patients with panic disorder and control individuals representing European and American populations. |►| Zhu, G., Bartsch, O., Skrypnyk, C., Rotondo, A., Akhtar, L.A., Harris, C., Virkkunen, M., Cassano, G., Goldman, D. |►| Eur J Hum Genet 12 (2004) 505-8. PMID: 15054397

Publikationen des Jahres 2003

[Genetic alterations in sinonasal adenocarcinoma in wood workers studies with comparative genomic hybridization] |►| Ariza Cobos, M., Llorente Pendas, J.L., Alvarez Marcos, C., Baragano Rio, L., Salas Bustamante, A., Rodriguez Prado, N., Ablanedo Ablanedo, P., Dominguez Iglesias, F., Suarez Nieto, C., Schrock, E.,  Sampedro Nuno, A. |►| Acta Otorrinolaringol Esp 54 (2003) 23-30. PMID: 12733317

DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion. |►| Bartsch, O., Nemeckova, M., Kocarek, E., Wagner, A., Puchmajerova, A., Poppe, M., Ounap, K., Goetz, P. |►| Am J Med Genet A 117 (2003) 1-5. PMID: 12548732

Cardiac energetics correlates to myocardial hypertrophy in Friedreich's ataxia. |►|Bunse, M., Bit-Avragim, N., Riefflin, A., Perrot, A., Schmidt, O., Kreuz, F.R., Dietz, R., Jung, W.I., Osterziel, K.J. |►| Ann Neurol 53 (2003) 121-3.
PMID: 12509856

De la ipoteza clinica prin analiza cromozomica si FISH, la un diagnostic precis. |►| Covic, M., Bartsch, Oliver., Volosciuc, M., Rusu, C., Braha, E., Gorduza, V. |►|  Wissenschaftliche Zeitschrift der Universität Iasi, Rumänien 107 (2003) 53-59.

Gene symbol: GLI3. Disease: Pallister-Hall syndrome. |►| Freese, K., Driess, S., Bornholdt, D., Shoenle, E.J., Seidel, H., Tinschert, S., Grzeschik, K.H., Kalff-Suske, M. |►| Hum Genet 112 (2003) 103. PMID: 12575661

Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation. |►| Grafakou, O., Oexle, K., van den Heuvel, L., Smeets, R., Trijbels, F., Goebel, H.H., Bosshard, N., Superti-Furga, A., Steinmann, B., Smeitink, J. |►| Eur J Pediatr 162 (2003) 714-8. PMID: 12925875

Expression of mouse Tbx22 supports its role in palatogenesis and glossogenesis. |►| Herr, A., Meunier, D., Muller, I., Rump, A., Fundele, R., Ropers, H.H., Nuber, U.A. |►| Dev Dyn 226 (2003) 579-86. PMID: 12666195

Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region.|►| Horn, D., Neitzel, H., Tonnies, H., Kalscheuer, V., Kunze, J., Hinkel, G.K., Bartsch, O. |►| Am J Med Genet A 117 (2003) 236-44. PMID: 12599186

Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse. |►| Jenne, D.E., Tinschert, S., Dorschner, M.O., Hameister, H., Stephens, K., Kehrer-Sawatzki, H. |►| Genes Chromosomes Cancer 37 (2003) 111-20. PMID: 12696059

Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor region. |►| Kehrer-Sawatzki, H., Tinschert, S., Jenne, D.E. |►| J Med Genet 40 (2003) e116.PMID: 14569139

Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome). |►| Knoblauch, H., Tennstedt, C., Brueck, W., Hammer, H., Vulliamy, T., Dokal, I., Lehmann, R., Hanefeld, F., Tinschert, S. |►| Am J Med Genet A 120 (2003) 261-5. PMID: 12833411

Hereditäre Krebserkrankungen Aspekte der genetischen Beratung.|►| Kreuz, F.R. |►| Ars medici 9 (2003) 428-431.

Identification of six novel MSH2 and MLH1 germline mutations in HNPCC. |►| Kruger, S., Plaschke, J., Jeske, B., Gorgens, H., Pistorius, S.R., Bier, A., Kreuz, F.R., Theissig, F., Aust, D.E., Saeger, H.D., Schackert, H.K. |►| Hum Mutat 21 (2003) 445-6. PMID: 12655562

Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. |►| Lehmann, K., Seemann, P., Stricker, S., Sammar, M., Meyer, B., Suring, K., Majewski, F., Tinschert, S., Grzeschik, K.H., Muller, D., Knaus, P., Nurnberg, P., Mundlos, S. |►| Proc Natl Acad Sci U S A 100 (2003) 12277-82. PMID: 14523231

Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. |►| Mburu, P., Mustapha, M., Varela, A., Weil, D., El-Amraoui, A., Holme, R.H., Rump, A., Hardisty, R.E., Blanchard, S., Coimbra, R.S., Perfettini, I., Parkinson, N., Mallon, A.M., Glenister, P., Rogers, M.J., Paige, A.J., Moir, L., Clay, J., Rosenthal, A., Liu, X.Z., Blanco, G., Steel, K.P., Petit, C., Brown, S.D. |►| Nat Genet 34 (2003) 421-8. PMID: 12833159

A girl with cutaneous hyperpigmentation, cafe au lait spots and ring chromosome 15 without significant deletion.|►| Morava, E., Bartsch, O., Czako, M., Frensel, A., Karteszi, J., Kosztolanyi, G.Y. |►| Genet Couns 14 (2003) 337-42. PMID: 14577679

Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia. |►| Morava, E., Bartsch, O., Czako, M., Frensel, A., Kalscheuer, V., Karteszi, J., Kosztolanyi, G. |►| Clin Dysmorphol 12 (2003) 123-7. PMID: 12868476

The Kabuki syndrome: four patients with oral abnormalities. |►| Petzold, D., Kratzsch, E., Opitz, Ch., Tinschert, S. |►|  Eur J Orthod 25 (2003) 13-9. PMID: 12608719

Das DiGeorge-Syndrom/velokardiofaziale Syndrom in der Mund-, Kiefer- und Gesichtschirurgie. |►| Pradel, W., Bartsch, O., Müller, R., Lauer, G., Eckelt, U. |►| HNO 51 (2003) 755 - 758.

Antenatal onset of cortical hyperostosis (Caffey disease): case report and review. |►| Schweiger, S., Chaoui, R., Tennstedt, C., Lehmann, K., Mundlos, S., Tinschert, S. |►| Am J Med Genet A 120 (2003) 547-52. PMID: 12884437

Two new cases of analphoid marker chromosomes. |►| Spiegel, M., Hickmann, G., Senger, G., Kozlowski, P., Bartsch, O. |►| Am J Med Genet A 116 (2003) 284-9. PMID: 12503108

Melorheostosis with ipsilateral nevus sebaceus (didymosis melorheosebacea). |►| Tinschert, S., Stein, A., Goldner, B., Dietel, M. and Happle, R. |►| Eur J Dermatol 13 (2003) 21-4. PMID: 12609776

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. |►| Turkmen, S., Gillessen-Kaesbach, G., Meinecke, P., Albrecht, B., Neumann, L.M., Hesse, V., Palanduz, S., Balg, S., Majewski, F., Fuchs, S., Zschieschang, P., Greiwe, M., Mennicke, K., Kreuz, F.R., Dehmel, H.J., Rodeck, B., Kunze, J., Tinschert, S., Mundlos, S., Horn, D. |►| Eur J Hum Genet 11 (2003) 858-65. PMID: 14571271

Publikationen des Jahres 2002

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.  |►|Bartsch, O., Locher, K., Meinecke, P., Kress, W., Seemanova, E., Wagner, A., Ostermann, K., Rodel, G. |►| J Med Genet 39 (2002) 496-501. PMID: 12114483

Catch 22.|►|Hinkel, G.K., Reinhardt, D., Böhlers, H., Creutzig, U., Kiess, W., Korinthenberg, R., Luthardt, T., Michalk, D., Poets, C.F., Ulmer, H.|►| In: Leitlinien Kinderheilkunde und Jugendmedizin. Urban&Fischer, 2002.

Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. |►| Karim, M.A., Suzuki, K., Fukai, K., Oh, J., Nagle, D.L., Moore, K.J., Barbosa, E., Falik-Borenstein, T., Filipovich, A., Ishida, Y., Kivrikko, S., Klein, C., Kreuz, F., Levin, A., Miyajima, H., Regueiro, J., Russo, C., Uyama, E., Vierimaa, O., Spritz, R.A. |►| Am J Med Genet 108 (2002) 16-22. PMID: 11857544

Genetische Beratung von Familien mit ausgewählten spätmanifesten neurodegenerativen Erkrankungen des Zentralnervensystems.|►| Kreuz, F.R. |►| Kontext 33 (2002) 24-46.

Humangenetik: Der Schlüssel zur Gesundheit? - Grundlagen und Anwendungen Humangenetischer Beratung.
In: Martin, H.J. (Ed.), Am Ende (-) die Ethik? Begründungs- und Vermittlungsfragen zeitgemäßer Ethik.|►| Kreuz, F.R. |►| LitVerlag, Münster, Hamburg, London, 2002, pp. 124-149.

Megalocornea-mentales Retardierungs-Syndrom: Berichte aus zwei Familien.|►| Kreuz, F.R. |►| In: Aksu, F. (Ed.), Aktuelle Neuropädiatrie. Novartis Pharma Verlag, Nürnberg, 2002, pp. 132-136.

Mortui vivos docent - Die Toten lehren die Lebenden. Erläuterungen zur Gehirnbank.|►| Kreuz, F.R. |►| Herax-Fundus 1 (2002) 15-16.

Seven novel MLH1 and MSH2 germline mutations in hereditary nonpolyposis colorectal cancer.|►| Kruger, S., Plaschke, J., Pistorius, S., Jeske, B., Haas, S., Kramer, H., Hinterseher, I., Bier, A., Kreuz, F.R., Theissig, F., Saeger, H.D.,  Schackert, H.K. |►| Hum Mutat 19 (2002) 82. PMID: 11754112

Sudden death of a girl with Prader-Willi syndrome.|►|Oiglane, E., Ounap, K., Bartsch, O., Rein, R. and Talvik, T.|►| Genet Couns 13 (2002) 459-64. PMID: 12558118

Molecular cytogenetic characterization of a 10p14 deletion that includes the DGS2 region in a patient with multiple anomalies.|►| Skrypnyk, C., Goecke, T.O., Majewski, F. and Bartsch, O. |►| Am J Med Genet 113 (2002) 207-12. PMID: 12407714

Publikationen des Jahres 2001

The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia. |►| Bit-Avragim, N., Perrot, A., Schols, L., Hardt, C., Kreuz, F.R., Zuhlke, C., Bubel, S., Laccone, F., Vogel, H.P., Dietz, R., Osterziel, K.J. |►| J Mol Med 78 (2001) 626-32. PMID: 11269509

One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenita (DKC). |►| Heiss, N.S., Megarbane, A., Klauck, S.M., Kreuz, F.R., Makhoul, E., Majewski, F., Poustka, A. |►| Genet Couns 12 (2001) 129-36. PMID: 11491307

Leitlinien für die molekulare und cytogenetische Diagnostik für Prader-Willi-Syndrom und Angelman-Syndrom. |►| Horsthemke, B., Bartsch, O., Bürger, J., Buiting, K., Gillessen-Kaesbach, G.,  Janssen, B. |►| medgen 13 (2001) 71-73.

Genetische Beratung von Familien mit Huntingtonscher Krankheit und Heredoataxien. |►| Kreuz, F.R. |►| Ärzteblatt Sachsen 10 (2001) 472-478.

Metaphyseal dysplasia: a new autosomal dominant type in a large German kindred. |►| Braun, H.S., Nürnberg, P., Tinschert, S. |►| Am J Med Genet 101 (2001), 74 - 77. PMID: 11343343

Refinement of the chromosome 5p locus for craniometaphyseal dysplasia. |►| Chandler, D., Tinschert, S., Lohan, K., Harrop, K., Goldblatt, J., Nagy, M., Hummel, S., Braun, H.S., Laing,N., Nürnberg, P. |►| Hum Genet 108 (2001), 394 - 397. PMID: 11409866

Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. |►| Ludecke, H.J., Schaper, J., Meinecke, P., Momeni, P., Gross, S., von Holtum, D., Hirche, H., Abramowicz, M.J., Albrecht, B., Apacik, C., Christen, H.J., Claussen, U., Devriendt, K., Fastnacht, E., Forderer, A., Friedrich, U., Goodship, T.H., Greiwe, M., Hamm, H., Hennekam, R.C., Hinkel, G.K., Hoeltzenbein, M., Kayserili, H., Majewski, F., Mathieu, M., McLeod, R., Midro, A.T., Moog, U., Nagai, T., Niikawa, N., Orstavik, K.H., Plochl, E., Seitz, C., Schmidtke, J., Tranebjaerg, L., Tsukahara, M., Wittwer, B., Zabel, B., Gillessen-Kaesbach, G., Horsthemke, B. |►| Am J Hum Genet 68 (2001) 81-91. PMID: 11112658

Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40. |►| Tiecke, F., Katzke, S., Booms, P., Robinson, P.N., Neumann, L., Godfrey, M., Mathews, K.R., Scheuner, M., Hinkel, G.K., Brenner, R.E., Hovels-Gurich, H.H., Hagemeier, C., Fuchs, J., Skovby, F., Rosenberg, T. |►| Eur J Hum Genet 9 (2001) 13-21. PMID: 11175294

Burning down DEFECT11.|►| Wuyts, W., Van Hul, W., Bartsch, O., Wilkie, A.O., Meinecke, P. |►| Am J Med Genet 100 (2001) 331-5. PMID: 11343325

[Analysis of a case of balanced chromosome translocation and phenotypic abnormality by fluorescence in situ hybridization] |►| Zhu, G., Bartsch, O., Wan, M., Gillessen-Kaesbach, G., Passarge, E. |►| Zhonghua Yi Xue Yi Chuan Xue Za Zhi 18 (2001) 96-9. PMID: 11295125

Publikationen des Jahres 2000

Der ärztliche Beirat. |►| Kreuz, F.R. |►|In: Deutsche Heredo-Ataxie-Gesellschaft e. V.: DHAG-Informationen-Neue Bundesländer. DHAG, Stuttgart, 2000, pp. 18.

Die Ataxie-Selbsthilfebewegung in den neuen Bundesländern. |►| Kreuz, F.R. |►| In: Deutsche Heredo-Ataxie-Gesellschaft e. V.: DHAG-Informationen-Neue Bundesländer. DHAG, Stuttgart, 2000, pp. 21-23.

Wohin in den neuen Bundesländern? |►| Kreuz, F.R. |►|In: Deutsche Heredo-Ataxie-Gesellschaft e. V.: DHAG-Informationen-Neue Bundesländer. DHAG, Stuttgart, 2000, pp. 25.

Überblick über die Ataxie-Erkrankungen. |►| Kreuz, F.R. |►| In:Deutsche Heredo-Ataxie-Gesellschaft e. V.: DHAG-Informationen-Neue Bundesländer. DHAG, Stuttgart, 2000, pp. 26-30.

Penoscrotal inversion, hypospadias, imperforate anus, facial anomalies, and developmental delay: definition of a new clinical syndrome. |►| Kuhnle, U., Bartsch, O., Werner, W., Schuster, T. |►| Pediatr Surg Int 16 (2000) 396-9.

Boy with celiac disease, malformations, and ring chromosome 13 with deletion 13q32-->qter. |►|Talvik, I., Ounap, K., Bartsch, O., Ilus, T., Uibo, O., Talvik, T. |►| Am J Med Genet 93 (2000) 399-402. PMID: 10951464

Frühkindliche Hirnschädigung mit intrazerebralen Verkalkungen. |►| Thonig, S., Näke, A., Hahn, G. |►|Monatsschr Kinderheilkd 6 (2000) 616-617.

Delineation of chromosome translocations by fluorescence in situ hybridization. |►|Zhu, G.S., Bartsch, O., Wan, M.B., Gillessen-Kaesbach, G., Passarge, E. |►| Acad J Sec Mil Med Univ 21 (2000) 853-856.

Publikationen des Jahres 1999

'Contiguous Gene Syndrome' infolge centromernaher Deletion 11p: bekannte und neue Befunde. |►|Bartsch, O., Meinecke, P. |►| Monatschrift Kinderheilkunde 147 (1999) 1067.

FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy. |►| Bartsch, O., Wagner, A., Hinkel, G.K., Krebs, P., Stumm, M., Schmalenberger, B., Bohm, S., Balci, S., Majewski, F. |►| Eur J Hum Genet 7 (1999) 748-56. PMID: 10573006

No evidence for chromosomal microdeletions at the second DiGeorge syndrome locus on 10p near D10S585. |►| Bartsch, O., Wagner, A., Hinkel, G.K., Lichtner, P., Murken, J., Schuffenhauer, S. |►| Am J Med Genet 83 (1999) 425-6. PMID: 10232757

Rubinstein-Taybi syndrome: deletions by FISH associated with mispattering of the visceral left-right axis and death in infancy. |►| Bartsch, O., Wagner, A., Hinkel, G.K., Krebs, P., Stumm, M., Schmalenberger, B., Balci, S., Majewski, F. |►| Am J Hum Genet (Suppl.) 65 (1999) 759.

Subtelomeric rearrangements by FISH: a study of mentally retarded and dysmorphic patients and of probands with suspicious karyotypes. |►| Bartsch, O., Pilz, M., Sims, G., Qunap, K., Wirth, J., Haaf, T. |►| Medizinische Genetik 11 (1999) 163.

The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and deletion in Xq28:report of the first familial case. |►| Bartsch, O., Kress, W., Wagner, A., Seemanova, E. |►| Cytogenet Cell Genet 85 (1999) 310-4. PMID: 10449925

 The proximal deletion 11p contiguous gene syndrome: new clinical signs of myopia and cerebellar hypoplasia and a localization refinement to chromosome 11p11, XX. |►|Bartsch, O., Schüler, H., Majewski, F., van Hul, W., Wuyts, W., Meinecke, P. |►|   David W. Smith Workshop on Malformations and Morphogenesis, Schlangenbad, 1999, pp. 24.

Frataxin-Repeat Expansion associated with Hypertrophic Cardiomyopathie in Patients with Friedreich´s ataxia. |►| Bit-Avragim, N., Perrot, A., Cordini, S., Ellmer, A.E., Poepping, I., Schöls, L., Kreuz, F.R., Zühlke, C., Laccone, F., Vogel, H.P., Dietz, R., Osterziel, K.J. |►|Circulation (Suppl.) (1999) I-819.

lnfluence of Frataxin on the Cardiomyopathy of Patients with Friedreich's ataxia. |►| Bit-Avragim, N., Perrot, A., Cordini, S., Ellmer, A.E., Schöls, L., Epplen, C., Kreuz, F.R., Zühlke, C., Bubel, S., Laccone, F., Vogel, H.P., Osterziel, K.J. |►| Z Kardiol (Suppl. 1) 88 (1999) 157.

lnfluence of Frataxin on the Cardiomyopathy of Patients with Friedreich's ataxia. |►|Bit-Avragim, N., Perrot, A., Cordini, S., Ellmer, A.E., Schöls, L., Epplen, C., Kreuz, F.R., Zühlke, C., Bubel, S., Laccone, F., Dietz, R., Vogel, H.P., Osterziel, K.J. |►| Eur Heart J (Suppl.) 20 (1999) 485.

PRNP genotype D178N/129M identified in several German kindreds with prion disease suggests a founder effect. |►| Harder, A., Jendroska, K., Wirth, T., Kreuz, F.R., Schafranka, C., Karnatz, N., Dreier, J., Lohan, K., Emmerich, D., Witkowski, R., Nürnberg, P. |►|Medizinische Genetik 11 (1999) 192.

Prenatally detected partial monosomy 6q in 3 fetuses. |►| Hickmann, G., Mazauric, M.L., Bartsch, O., Spiegel, M., Wirth, J., Stressig, P., Kozlowski, P. |►|Medizinische Genetik 11 (1999) 127.

Familial unbalanced translocation 9;13 in a Kabuki syndrome like girl. |►| Ilus, T., Ounap, K., Bartsch, O., Oiglane, F., Sitska, M. |►|Medizinische Genetik 11 (1999) 167.

Another case of achalasia-microcephaly syndrome. |►| Kreuz, F.R., Nolte-Buchholtz, S., Fackler, F., Behrens, R. |►| Clin Dysmorphol 8 (1999) 295-7. PMID:10532181

Die chromosomale Lage der Gene, deren Mutation eine Heredo-Ataxie verursacht; Begriffserklärungen. |►| Kreuz, F.R., Stimm, H., Zühlke, C. |►| In: Deutsche Heredo-Ataxie-Gesellschaft e.V. (Eds.): Genetische Grundlagen der Heredo-Ataxien.Eigenverlag, Stuttgart, 1999, pp. 6-26, 33-36, 38-54.

Genetic counselling of Huntington's disease: Experience over five years. |►| Kreuz, F.R. |►|Medizinische Genetik 11 (1999) 454.

Megalocornea - mental retardation (MMR) syndrome type 3 (Verloes) in two cousins. |►| Kreuz, F.R., Hinkel, G.K. |►|Medizinische Genetik 11 (1999) 145, P 1-23.

Richtlinien für die Anwendung molekulargenetischer Untersuchungen zur Vorhersage und Diagnostik von autosomal-rezessiven Heredo-Ataxien. |►| Kreuz, F.R. |►| In: Deutsche Heredo-Ataxie-Gesellschaft e.V. (Eds.): Richtlinien für die Anwendung molekulargenetischer Untersuchungen zur Vorhersage und Diagnostik von Heredo-Ataxien.1999.

Spinocerebellar ataxia type 7: frequency of CAG repeat length in a German family. |►| Kreuz, F.R., Grunewald, T., Muller, A., Reichmann, H., Zuhlke, C. |►|J Neurol 246 (1999) 1105-6. PMID: 10631650

Spinocerebelläre Ataxie Typ 1(SCA1): Revision der Diagnose einer familiären multiplen Sklerose. |►| Kreuz, F.R., Deike, H. |►|Akt Neurologie 26 (1999) 375-378.

Überblick über die Ataxie-Erkrankungen. |►| Kreuz, F.R. |►| In:Deutsche Heredo-Ataxie-Gesellschaft e.V. (Eds.): DHAG-Informationen. Eigenverlag, Stuttgart, 1999, pp. 27-30.

Endocrine Myopathy: Elevated Creatine Kinase-GH Substitution. |►| Reich, A., Hinkel, G.K., Schneider, A., Willgerodt, H., Kiess, W., Keller, E. |►|Horm Res 51 (1999) Suppl. 2, 49, P 150.

A patient with del(11)(p11.11p11.2): a further case of the newly described contiguous gene deletion syndrome. |►| Schüler, H., Bartsch, O., Raff, R., Majewski, F. |►|Medizinische Genetik (1999) 173.

Microdeletion 22q11: new probes identify different deletions types. |►| Wagner, A., Schmitt, H., Kocarek, E., Nemecková, M., Schröder, K., Müller, H.J., Blin, N., Bartsch, O. |►|Medizinische Genetik 11 (1999) 175.

Linkage disequilibrium and haplotype analysis in German Friedreich ataxia families. |►| Zuhlke, C., Gehlken, U., Purmann, S., Kunisch, M., Muller-Myhsok, B., Kreuz, F., Laccone, F. |►|Hum Hered 49 (1999) 90-6. PMID: 10077729

Publikationen des Jahres 1998

Isozentrisches Extrachromosom 22q11 in einer Familie mit Hypoparathyreoidismus, sensoneuraler Schwerhörigkeit und Nierendysplasie. |►| Hinkel, G.K., Bartsch, O., Fischer, R., Werner, W. |►|Monatsschr Kinderheilkd 146 (1998) 1034-1038.

Calcium metabolism and growth during early treatment of children with X-linked hypophosphataemic rickets. |►| Kruse, K., Hinkel, G.K., Griefahn, B. |►| Eur J Pediatr 157 (1998) 894-900. PMID:9835432

Female pseudohermaphroditism associated with a novel homozygous G-to-A (V370-to-M) substitution in the P-450 aromatase gene. |►| Ludwig, M., Beck, A., Wickert, L., Bolkenius, U., Tittel, B., Hinkel, G.K., Bidlingmaier, F. |►|  J Pediatr Endocrinol Metab 11 (1998) 657-64. PMID: 9829218

Copingstrategien von Risikopersonen für die Huntingtonsche Krankheit. |►| Müller, A., Kreuz, F.R.|►| Neurol Rehabil. 4 (1998) 71-75.

Familial Williams-Beuren syndrome. |►| Ounap, K., Laidre, P., Bartsch, O., Rein, R., Lipping-Sitska, M. |►|Am J Med Genet 80 (1998) 491-3. PMID: 9880214

A denovo translocation 46,X,t(X;15) causing haemophilia B in a girl: a case report. |►| Schröder, W., Poetsch, M., Gazda, H., Werner, W., Reichelt, T., Knoll, W., Rokocka-Milewska, R., Zieleniewska, B., Herrmann, F.H. |►| Brit J Haemat 100 (1998) 750-757. PMID: 9531344

Deletion mapping by FISH with BACs in patients with partial monosomy 22q13. |►| Schröder, K., Schuffenhauer, S., Seidel, H., Bartsch, O., Blin, N., Hinkel, G.K., Schmitt, H. |►|Hum Genet 102 (1998) 557-61. PMID: 9654204