Publikationen 2012 - 2008

Publikationen des Jahres 2012

A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring |►|  Rump A, Hildebrand L, Tzschach A, Ullmann R, Schrock E, Mitter D  |►|  Eur J Hum Genet. 2012 Dec 12  |►| PMID: 23232695

The prognostic value of IDH mutations and MGMT promoter status in secondary high-grade gliomas |►|  Juratli TA, Kirsch M, Geiger K, Klink B, Leipnitz E, Pinzer T, Soucek S, Schrok E, Schackert G, Krex D J  |►|  Neurooncol 2012 Dec;110(3):325-33  |►| PMID: 23015095

Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers.|►| Stevens KN, Wang X, Fredericksen Z, Pankratz VS, Greene MH, Andrulis IL, Thomassen M, Caligo M; Swedish Breast Cancer Study, Sweden (SWE-BRCA), Nathanson KL, Jakubowska A, Osorio A, Hamann U, Godwin AK, Stoppa-Lyonnet D, Southey M, Buys SS, Singer CF, Hansen TV, Arason A, Offit K, Piedmonte M, Montagna M, Imyanitov E, Tihomirova L, Sucheston L, Beattie M; HEreditary Breast and Ovarian Cancer Group Netherlands (HEBON); German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC), Neuhausen SL; CONsorzio Studi ITaliani sui Tumori Ereditari Alla Mammella (CONSIT Team), Szabo CI; kConFab, Simard J, Spurdle AB, Healey S, Chen X, Rebbeck TR, Easton DF, Chenevix-Trench G, Antoniou AC, Couch FJ. |►| Breast Cancer Res Treat. 2012 Nov;136(1):295-302. |►| PMID: 23011509

Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancer |►|  Kast K, Neuhann TM, Görgens H, Becker K, Keller K, Klink B, Aust D, Distler W, Schröck E, Schackert HK  |►|  BMC Cancer. 2012 Nov 20;12:531  |►| PMID: 23164213

A misplaced lncRNA causes brachydactyly in humans |►|  Maass PG, Rump A, Schulz H, Stricker S, Schulze L, Platzer K, Aydin A, Tinschert S, Goldring MB, Luft FC, Bähring S  |►|  J Clin Invest. 2012 Nov 1;122(11):3990-4002  |►| PMID: 23093776

Isolation, characterization, and differentiation of progenitor cells from human adult adrenal medulla |►|  Santana MM, Chung KF, Vukicevic V, Rosmaninho-Salgado J, Kanczkowski W, Cortez V, Hackmann K, Bastos CA, Mota A, Schrock E, Bornstein SR, Cavadas C, Ehrhart-Bornstein M  |►|  Stem Cells Transl Med. 2012 Nov;1(11):783-91  |►| PMID: 23197690

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study |►|  Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Röpke A, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schröck E, Wieacker P, Riess O, Meitinger T, Reis A, Strom TM  |►|  Lancet. 2012 Sep 26. pii: S0140-6736(12)61480-9  |►| PMID: 23020937

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle |►|  Deardorff MA, Bando M, Nakato R, Watrin E, Itoh T, Minamino M, Saitoh K, Komata M, Katou Y, Clark D, Cole KE, De Baere E, Decroos C, Di Donato N, Ernst S, Francey LJ, Gyftodimou Y, Hirashima K, Hullings M, Ishikawa Y, Jaulin C, Kaur M, Kiyono T, Lombardi PM, Magnaghi-Jaulin L, Mortier GR, Nozaki N, Petersen MB, Seimiya H, Siu VM, Suzuki Y, Takagaki K, Wilde JJ, Willems PJ, Prigent C, Gillessen-Kaesbach G, Christianson DW, Kaiser FJ, Jackson LG, Hirota T, Krantz ID, Shirahige K  |►|  Nature. 2012 Sep 13;489(7415):313-7  |►| PMID: 22885700

Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: Alternative definition and further delineation of MOMO syndrome |►|  Di Donato N, Riess A, Hackmann K, Rump A, Huebner A, von der Hagen M, Hahn G, Schrock E, Tinschert S  |►|  Am J Med Genet A. 2012 Jul 20. doi: 10.1002/ajmg.a.35481  |►| PMID: 22821547

Molekulare Karyotypisierung in der genetischen Diagnostik - Technologien und Anwendungen |►|  Hackmann K, Schrock E, Engels H  |►|  medgen 2012 24:86-93 DOI10.1007/s11825-012-0326-z  |►|  www.medgenetik.de

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  |►| PMID: 22314337

Selection of a highly invasive neuroblastoma cell population through long-term human cytomegalovirus infection |►|  Michaelis M, Barth S, Breitling R, Bruch J, Steinberger D, Rothweiler F, Hackmann K, Schröck E, Doerr HW, Griffin DK, Cinatl J, Cinatl J Jr  |►|  nature publishing group. 2012 Apr 30  |►| www.nature.com

Macrocerebellum: Significance and Pathogenic Considerations |►|  Poretti A, Mall V, Smitka M, Grunt S, Risen S, Toelle SP, Benson JE, Yoshida S, Jung NH, Tinschert S, Neuhann TM, Rauch A, Steinlin M, Meoded A, Huisman TA, Boltshauser E  |►|  Cerebellum. 2012 Apr 14  |►| PMID: 22528964

De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature  |►|  Becker K, Di Donato N, Holder-Espinasse M, Andrieux J, Cuisset JM, Vallée L, Plessis G, Jean N, Delobel B, Thuresson AC, Annerén G, Ravn K, Tümer Z, Tinschert S, Schrock E, Jønch AE, Hackmann K  |►|  Eur J Med Genet. 2012 Apr 12  |►| PMID: 22561202

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  |►| PMID: 22444671

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  |►| PMID: 22469822

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  |►| PMID: 22405089

Satisfaction with genital surgery and sexual life of adults with XY disorders of sex development: results from the German clinical evaluation study |►|  Köhler B, Kleinemeier E, Lux A, Hiort O, Grüters A, Thyen U; DSD Network Working Group  |►|  J Clin Endocrinol Metab. 2012 Feb;97(2):577-88  |►|  PMID: 22090272

Publikationen des Jahres 2011

Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies |►|  Kortüm F, Chyrek M, Fuchs S, Albrecht B, Gillessen-Kaesbach G, Mütze U, Seemanova E, Tinschert S, Wieczorek D, Rosenberger G, Kutsche K  |►|  Mol Syndromol. 2011 Dec;2(1):27-34  |►|  PMID: 22570643

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  |►|  PMID: 22285016

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  |►|  PMID: 22134251

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  |►|  PMID: 21919902

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  |►|  PMID: 21744487

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  |►|  PMID: 21834043

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  |►|  PMID: 21827697

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  |►|  PMID: 21788410

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  |►|  PMID: 21732829

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  |►|  PMID: 21726432

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  |►|  PMID: 21051722

Publikationen des Jahres 2010

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  |►|  PMID: 21142935

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  |►|  PMID: 21109224

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  |►|  PMID: 20979196

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  |►|  PMID: 20506354

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  |►|  PMID: 21538026

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  |►|  PMID: 20442295

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  |►|  PMID: 20061079

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  |►|  PMID: 20358596

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  |►|  PMID: 20015959

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  |►|  PMID:

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  |►|  PMID: 19639020

Publikationen des Jahres 2009

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  |►|  PMID: 19842190

The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. |►| Sinilnikova OM, Antoniou AC, Simard J, Healey S, Léoné M, Sinnett D, Spurdle AB, Beesley J, Chen X; kConFab, Greene MH, Loud JT, Lejbkowicz F, Rennert G, Dishon S, Andrulis IL; OCGN, Domchek SM, Nathanson KL, Manoukian S, Radice P, Konstantopoulou I, Blanco I, Laborde AL, Durán M, Osorio A, Benitez J, Hamann U, Hogervorst FB, van Os TA, Gille HJ; HEBON, Peock S, Cook M, Luccarini C, Evans DG, Lalloo F, Eeles R, Pichert G, Davidson R, Cole T, Cook J, Paterson J, Brewer C; EMBRACE, Hughes DJ, Coupier I, Giraud S, Coulet F, Colas C, Soubrier F, Rouleau E, Bièche I, Lidereau R, Demange L, Nogues C, Lynch HT; GEMO, Schmutzler RK, Versmold B, Engel C, Meindl A, Arnold N, Sutter C, Deissler H, Schaefer D, Froster UG; GC-HBOC, Aittomäki K, Nevanlinna H, McGuffog L, Easton DF, Chenevix-Trench G, Stoppa-Lyonnet D; Consortium of Investigators of Modifiers of BRCA1/2. |►| Br J Cancer. 2009 Oct 20;101(8):1456-60. |►| PMID: 19707196.

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  |►|  PMID: 18829976

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  |►|  PMID: 19383134

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  |►|  PMID: 19321746

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  |►|  PMID: 19639528

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  |►|  PMID: 19273763

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  |►|  PMID: 19298871

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  |►|  PMID: 19244120

Publikationen des Jahres 2008

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  |►|  PMID: 19096913

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  |►|  PMID: 18498373

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  |►|  PMID: 18619730

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  |►|  PMID: 19058713

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  |►|  PMID: 18637841

Chromosomal map of human brain malformations |►|  Tyshchenko N, Lurie I, Schinzel A  |►|  Hum Genet. 2008 Aug;124(1):73-80  |►|  PMID: 8031529

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  |►|  PMID: 18581137

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  |►|  PMID: 18553548

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  |►|  PMID: 18301448

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  |►|  PMID: 18394553

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  |►|  PMID: 18709310

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  |►|  PMID: 18043713

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):62-7  |►|  PMID: 17851451

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