2012

zurück zum Anfang

• Clonal Evolution Including Partial Loss of Human Leukocyte Antigen Genes Favoring Extramedullary Acute Myeloid Leukemia Relapse After Matched Related Allogeneic Hematopoietic Stem Cell Transplantation.
• • Stölzel F, Hackmann K, Kuithan F, Mohr B, Füssel M, Oelschlägel U, Thiede C, Röllig C, Platzbecker U, Schetelig J, Illmer T, Schaich M, Seliger B, Hartmann A, Baretton G, Zietz C, Ehninger G, Schrock E, Bornhäuser M.
  • Transplantation. 2012 Apr 15;93(7):744-749. Related cititations

• Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome.
• • Ng BG, Hackmann K, Jones MA, Eroshkin AM, He P, Wiliams R, Bhide S, Cantagrel V, Gleeson JG, Paller AS, Schnur RE, Tinschert S, Zunich J, Hegde MR, Freeze HH.
  • Am J Hum Genet. 2012 Mar 20. [Epub ahead of print] Related cititations

• A further patient with van Maldergem syndrome.
• • Neuhann TM, Müller D, Hackmann K, Holzinger S, Schrock E, Di Donato N.
  • Eur J Med Genet. 2012 Mar 13. [Epub ahead of print] Related cititations

• Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability.
• • Hoyer J, Ekici AB, Endele S, Popp B, Zweier C, Wiesener A, Wohlleber E, Dufke A, Rossier E, Petsch C, Zweier M, Göhring I, Zink AM, Rappold G, Schröck E, Wieczorek D, Riess O, Engels H, Rauch A, Reis A.
  • Am J Hum Genet. 2012 Mar 9;90(3):565-572. Epub 2012 Mar 8. Related cititations

2011

zurück zum Anfang

• Two novel unbalanced whole arm translocations are frequently detected in cervical squamous cell carcinoma.
• • Backsch C, Pauly B, Liesenfeld M, Scheungraber C, Gajda M, Mrasek K, Liehr T, Clad A, Schrock E, Runnebaum IB, Dürst M.
  • Cancer Genet. 2011 Dec;204(12):646-53. Related cititations

• Asymmetric, disproportionate craniofacial hyperostoses of mosaic pattern in a patient not meeting proteus syndrome criteria.
• • Adolphs N, Menneking H, Hoffmeister B, Tinschert S.
  • J Craniofac Surg. 2011 Nov;22(6):2135-40. Related cititations

• BRCA1/2 testing: uptake, phenocopies, and strategies to improve detection rates in initially negative families.
• • Fischer C, Engel C, Sutter C, Zachariae S, Schmutzler R, Meindl A, Heidemann S, Grimm T, Goecke T, Debatin I, Horn D, Wieacker P, Gadzicki D, Becker K, Schäfer D, Stock F, Voigtländer T; on behalf of the German Consortium for Hereditary Breast and Ovarian Cancer.
  • Clin Genet. 2011 Sep 15. doi: 10.1111/j.1399-0004.2011.01788.x. [Epub ahead of print] Related cititations

• Expanding the clinical and neuroradiological phenotype of 6q27 microdeletion: olfactory bulb aplasia and anosmia.
• • Gerber JC, Neuhann TM, Tyshchenko N, Smitka M, Hackmann K.
  • Am J Med Genet A. 2011 Aug;155A(8):1981-6. doi: 10.1002/ajmg.a.34079. Epub 2011 Jul 8. Related cititations

• A new autosomal dominant syndrome of distinctive face showing ptosis and prominent eyes associated with cleft palate, ear anomalies, and learning disability.
• • Tyshchenko N, Neuhann TM, Gerlach E, Hahn G, Heisch K, Rump A, Schrock E, Tinschert S, Hackmann K.
  • Am J Med Genet A. 2011 Aug 10. doi: 10.1002/ajmg.a.34159. [Epub ahead of print] Related cititations

• Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1.
• • Gregor A, Albrecht B, Bader I, Bijlsma EK, Ekici AB, Engels H, Hackmann K, Horn D, Hoyer J, Klapecki J, Kohlhase J, Maystadt I, Nagl S, Prott E, Tinschert S, Ullmann R, Wohlleber E, Woods G, Reis A, Rauch A, Zweier C.
  • BMC Med Genet. 2011 Aug 9;12:106. Related cititations

• Genomic loss of the putative tumor suppressor gene E2A in human lymphoma.
• • Steininger A, Möbs M, Ullmann R, Köchert K, Kreher S, Lamprecht B, Anagnostopoulos I, Hummel M, Richter J, Beyer M, Janz M, Klemke CD, Stein H, Dörken B, Sterry W, Schrock E, Mathas S, Assaf C.
  • J Exp Med. 2011 Aug 1;208(8):1585-93. Epub 2011 Jul 25. Related cititations

• Wnt signaling and Dupuytren's disease.
• • Dolmans GH, Werker PM, Hennies HC, Furniss D, Festen EA, Franke L, Becker K, van der Vlies P, Wolffenbuttel BH, Tinschert S, Toliat MR, Nothnagel M, Franke A, Klopp N, Wichmann HE, Nürnberg P, Giele H, Ophoff RA, Wijmenga C; Dutch Dupuytren Study Group; German Dupuytren Study Group; LifeLines Cohort Study; BSSH-GODD Consortium.
  • N Engl J Med. 2011 Jul 28;365(4):307-17. Epub 2011 Jul 6. Related cititations

• MIA is a potential biomarker for tumour load in neurofibromatosis type 1.
• • Kolanczyk M, Mautner V, Kossler N, Nguyen R, Kühnisch J, Zemojtel T, Jamsheer A, Wegener E, Thurisch B, Tinschert S, Holtkamp N, Park SJ, Birch P, Kendler D, Harder A, Mundlos S, Kluwe L.
  • BMC Med. 2011 Jul 4;9:82. Related cititations

• A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation.
• • Neuhann TM, Artelt J, Neuhann TF, Tinschert S, Rump A.
  • Invest Ophthalmol Vis Sci. 2011 Feb 3;52(2):695-700. Print 2011 Feb. Related cititations

2010

zurück zum Anfang

• Monozygotic twins with neurofibromatosis type 1 (NF1) display differences in methylation of NF1 gene promoter elements, 5' untranslated region, exon and intron 1.
• • Harder A, Titze S, Herbst L, Harder T, Guse K, Tinschert S, Kaufmann D, Rosenbaum T, Mautner VF, Windt E, Wahlländer-Danek U, Wimmer K, Mundlos S, Peters H.
  • Twin Res Hum Genet. 2010 Dec;13(6):582-94. Related cititations

• A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.
• • Mochida GH, Ganesh VS, Felie JM, Gleason D, Hill RS, Clapham KR, Rakiec D, Tan WH, Akawi N, Al-Saffar M, Partlow JN, Tinschert S, Barkovich AJ, Ali B, Al-Gazali L, Walsh CA.
  • Am J Hum Genet. 2010 Dec 10;87(6):882-9. Epub 2010 Nov 25. Related cititations

• Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia.
• • Endris V, Hackmann K, Neuhann TM, Grasshoff U, Bonin M, Haug U, Hahn G, Schallner JC, Schröck E, Tinschert S, Rappold G, Moog U.
  • Am J Med Genet A. 2010 Nov;152A(11):2908-11. No abstract available. Related cititations

• A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2.
• • Bengesser K, Cooper DN, Steinmann K, Kluwe L, Chuzhanova NA, Wimmer K, Tatagiba M, Tinschert S, Mautner VF, Kehrer-Sawatzki H.
  • Hum Mutat. 2010 Jun;31(6):742-51. Related cititations

• Glioblastomas with oligodendroglial component-common origin of the different histological parts and genetic subclassification.
• • Klink B, Schlingelhof B, Klink M, Stout-Weider K, Patt S, Schrock E.
  • Cell Oncol (Dordr). 2011 Jun;34(3):261-75. Epub 2011 May 3. Related cititations

• Three-dimensional cell growth confers radioresistance by chromatin density modification.
• • Storch K, Eke I, Borgmann K, Krause M, Richter C, Becker K, Schröck E, Cordes N.
  • Cancer Res. 2010 May 15;70(10):3925-34. Epub 2010 May 4. Related cititations

• Cordectomy as final treatment option for diffuse intramedullary malignant glioma using 5-ALA fluorescence-guided resection.
• • Ewelt C, Stummer W, Klink B, Felsberg J, Steiger HJ, Sabel M.
  • Clin Neurol Neurosurg. 2010 May;112(4):357-61. Epub 2010 Jan 12. Related cititations

• Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss.
• • Kornak U, Brancati F, Le Merrer M, Lichtenbelt K, Höhne W, Tinschert S, Garaci FG, Dallapiccola B, Nürnberg P.
  • Am J Med Genet A. 2010 Apr;152A(4):870-4. Related cititations

• A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E.
• • Maass PG, Wirth J, Aydin A, Rump A, Stricker S, Tinschert S, Otero M, Tsuchimochi K, Goldring MB, Luft FC, Bähring S.
  • Hum Mol Genet. 2010 Mar 1;19(5):848-60. Epub 2009 Dec 16. Related cititations

• Stress-mediated nuclear stabilization of p53 is regulated by ubiquitination and importin-alpha3 binding.
• • Marchenko ND, Hanel W, Li D, Becker K, Reich N, Moll UM.
  • Cell Death Differ. 2010 Feb;17(2):255-67. Epub 2009 Nov 20. Related cititations

• Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients.
• • Titze S, Peters H, Währisch S, Harder T, Guse K, Buske A, Tinschert S, Harder A.
  • Eur J Hum Genet. 2010 Jan;18(1):81-7. Epub . Erratum in: Eur J Hum Genet. 2010 Apr;18(4):509. Related cititations

2009

zurück zum Anfang

• Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus.
• • du Souich C, Chou A, Yin J, Oh T, Nelson TN, Hurlburt J, Arbour L, Friedlander R, McGillivray BC, Tyshchenko N, Rump A, Poskitt KJ, Demos MK, Van Allen MI, Boerkoel CF.
  • Am J Med Genet A. 2009 Nov;149A(11):2469-78. Related cititations

• Multiple putative oncogenes at the chromosome 20q amplicon contribute to colorectal adenoma to carcinoma progression.
• • Carvalho B, Postma C, Mongera S, Hopmans E, Diskin S, van de Wiel MA, van Criekinge W, Thas O, Matthäi A, Cuesta MA, Terhaar Sive Droste JS, Craanen M, Schröck E, Ylstra B, Meijer GA.
  • Gut. 2009 Jan;58(1):79-89. Epub 2008 Oct 1. Related cititations

• Clinical evaluation study of the German network of disorders of sex development (DSD)/intersexuality: study design, description of the study population, and data quality.
• • Lux A, Kropf S, Kleinemeier E, Jürgensen M, Thyen U; DSD Network Working Group.
  • BMC Public Health. 2009 Apr 21;9:110. Related cititations

• Gene deregulation and spatial genome reorganization near breakpoints prior to formation of translocations in anaplastic large cell lymphoma.
• • Mathas S, Kreher S, Meaburn KJ, Jöhrens K, Lamprecht B, Assaf C, Sterry W, Kadin ME, Daibata M, Joos S, Hummel M, Stein H, Janz M, Anagnostopoulos I, Schrock E, Misteli T, Dörken B.
  • Proc Natl Acad Sci U S A. 2009 Apr 7;106(14):5831-6. Epub 2009 Mar 25. Related cititations

• Pontine tegmental cap dysplasia: the severe end of the clinical spectrum.
• • Rauscher C, Poretti A, Neuhann TM, Forstner R, Hahn G, Koch J, Tinschert S, Boltshauser E.
  • Neuropediatrics. 2009 Feb;40(1):43-6. Epub 2009 Jul 28. Related cititations

• Diffuse leptomeningeal astrocytoma in a patient with infantile epilepsy.
• • Warnke C, Lanzman RS, Klink B, Schellhammer F, Reifenberger G, Methner A.
  • Arch Neurol. 2009 Mar;66(3):408-9. No abstract available. Related cititations

• 1.6Mb deletion in chromosome band 3q29 associated with eye abnormalities.
• • Tyshchenko N, Hackmann K, Gerlach EM, Neuhann T, Schrock E, Tinschert S.
  • Eur J Med Genet. 2009 Mar-Jun;52(2-3):128-30. Epub 2009 Mar 17. Related cititations

• Telomere dysfunction and DNA-PKcs deficiency: characterization and consequence.
• • Williams ES, Klingler R, Ponnaiya B, Hardt T, Schrock E, Lees-Miller SP, Meek K, Ullrich RL, Bailey SM.
  • Cancer Res. 2009 Mar 1;69(5):2100-7. Epub 2009 Feb 24. Related cititations

2008

zurück zum Anfang

• Three-generational alkaptonuria in a non-consanguineous family.
• • Oexle K, Engel K, Tinschert S, Haas D, Lee-Kirsch MA.
  • J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S425-30. Epub 2008 Dec 22. Related cititations

• Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia.
• • Brakensiek K, Frye-Boukhriss H, Mälzer M, Abramowicz M, Bahr MJ, von Beckerath N, Bergmann C, Caselitz M, Holinski-Feder E, Muschke P, Oexle K, Strobl-Wildemann G, Wolff G, El-Harith EA, Stuhrmann M.
  • Clin Genet. 2008 Aug;74(2):171-7. Epub 2008 May 21. Related cititations

• Ten recently identified associations between nsSNPs and colorectal cancer could not be replicated in German families.
• • Frank B, Burwinkel B, Bermejo JL, Försti A, Hemminki K, Houlston R, Mangold E, Rahner N, Friedl W, Friedrichs N, Buettner R, Engel C, Loeffler M, Holinski-Feder E, Morak M, Keller G, Schackert HK, Krüger S, Goecke T, Moeslein G, Kloor M, Gebert J, Kunstmann E, Schulmann K, Rüschoff J, Propping P; German HNPCC Consortium.
  • Cancer Lett. 2008 Nov 18;271(1):153-7. Epub 2008 Jul 10. Related cititations

• Hemihyperplasia-multiple lipomatosis syndrome (HHML): a challenge in spinal care.
• • Schulte TL, Liljenqvist U, Görgens H, Hackenberg L, Bullmann V, Tinschert S.
  • Acta Orthop Belg. 2008 Oct;74(5):714-9. Related cititations

• Identification and characterization of CaApe2--a neutral arginine/alanine/leucine-specific metallo-aminopeptidase from Candida
• • Klinke T, Rump A, Pönisch R, Schellenberger W, Müller EC, Otto A, Klimm W, Kriegel TM.
  • FEMS Yeast Res. 2008 Sep;8(6):858-69. Epub 2008 Jul 11. Related cititations

• Chromosomal map of human brain malformations.
• • Tyshchenko N, Lurie I, Schinzel A.
  • Hum Genet. 2008 Aug;124(1):73-80. Epub 2008 Jun 18. Related cititations

• Centromeric Breakage and Illegitimate Recombination Leads to Whole Arms Translocations in Squamous Cell Carcinoma.
• • Guervos MA, Hermsen, M, Meijer G, Schrock E.
  • Genetic Translocations and Other Chromosome Aberrations. Seite 191 - 208 Leyden, G.-T., Nova Biomedical Books, Hauppauge NY, USA (2008) Google Books

• Dysmorphic disease genes due to transport defects - ANKH: Craniometaphyseal dysplasia.
• • Nürnberg P, Tinschert S.
  • Dysmorphic disease genes due to transport defects - ANKH: Craniometaphyseal dysplasia. In: Inborn Errors of Human Development. The molecular basis of clinical disorders of morphogenesis. Epstein CJ, Erickson RP & Wynshaw-Boris A (eds). II Edition. New York: Oxford University Press; 2008. Amazon - Inhaltsverzeichnis

• Clinical phenotypes in patients with NF1 microdeletions.
• • Tinschert S.
  • Clinical phenotypes in patients with NF1 microdeletions. In: Monographs in Human Genetics: Neurofibromatoses: Monographs in Human Genetics 16: BD 16; 2008. Google Books - Seiteninhalt

• Reduced mRNA expression in paraffin-embedded tissue identifies MLH1- and MSH2-deficient colorectal tumours and potential mutation carriers.
• • Müller A, Zielinski D, Friedrichs N, Oberschmid B, Merkelbach-Bruse S, Schackert HK, Linnebacher M, von Knebel Doeberitz M, Büttner R, Rüschoff J; German HNPCC Consortium, German Cancer Aid Deutsche Krebshilfe.
  • Virchows Arch. 2008 Jul;453(1):9-16. Epub 2008 Jun 26. Related cititations

• Czech dysplasia: report of a large family and further delineation of the phenotype.
• • Tzschach A, Tinschert S, Kaminsky E, Lusga E, Mundlos S, Graul-Neumann LM.
  • Am J Med Genet A. 2008 Jul 15;146A(14):1859-64. Related cititations

• No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients.
• • Steinke V, Rahner N, Morak M, Keller G, Schackert HK, Görgens H, Schmiegel W, Royer-Pokora B, Dietmaier W, Kloor M, Engel C, Propping P, Aretz S; German HNPCC Consortium.
  • Eur J Hum Genet. 2008 May;16(5):587-92. Epub 2008 Feb 27. Related cititations

• Fluorszenz-in-situ-Hybridisierung in der humangenetischen Diagnostik.
• • Schröck, E. • Frensel, A. • Gerlach, E. • Stadler, A. • Hackmann, K. • Tinschert, S. • Werner, W.
  • Medizinische Genetik 20 (2008/4), Seite 361 - 6 Medizinsche Genetik 2008/4

• Journal of Inherited Metabolic Disease.
• • K. Oexle, K. Engel, S. Tinschert, D. Haas und M. A. Lee-Kirsch.
  • Journal of Inherited Metabolic Disease Journal of Inherited Metabolic Disease

• Modeling of C/EBPalpha mutant acute myeloid leukemia reveals a common expression signature of committed myeloid leukemia-initiating cells.
• • Kirstetter P, Schuster MB, Bereshchenko O, Moore S, Dvinge H, Kurz E, Theilgaard-Mönch K, Månsson R, Pedersen TA, Pabst T, Schrock E, Porse BT, Jacobsen SE, Bertone P, Tenen DG, Nerlov C.
  • Cancer Cell. 2008 Apr;13(4):299-310. Related cititations

• Segmentally arranged basaloid follicular hamartomas with osseous, dental and cerebral anomalies: a distinct syndrome.
• • Happle R, Tinschert S.
  • Acta Derm Venereol. 2008;88(4):382-7. Related cititations

• Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic.
• • Wieland I, Makarov R, Reardon W, Tinschert S, Goldenberg A, Thierry P, Wieacker P.
  • Eur J Hum Genet. 2008 Feb;16(2):184-91. Epub 2007 Nov 28. Related cititations

• Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1.
• • Krüger S, Kinzel M, Walldorf C, Gottschling S, Bier A, Tinschert S, von Stackelberg A, Henn W, Görgens H, Boue S, Kölble K, Büttner R, Schackert HK.
  • Eur J Hum Genet. 2008 Jan;16(1):62-72. Epub 2007 Sep 12. Related cititations

• Prävention des kolorektalen Karzinoms im jungen Alter.
• • Krüger S, Bier A, Schackert HK, Schröck, E.
  • Colloquium Onkologie 5, Seite 68 - 80