2012

Al-Achkar W, Wafa A, Moassass F, Liehr T. A chronic myeloid leukemia case with a unique variant Philadelphia translocation: t(9;22;21)(q34;q11;p12). Oncol Lett 2012, 3: 1027-1029.
Al-Achkar W, Wafa A, Moassass F, Liehr T. A unique cytogenetic abnormality, t(2;7)(p13.1;p21.3), in a Philadelphia-positive chronic myeloid leukemia. Onc Letters 2012, 4: 209-212.
Al-Achkar W, Wafa A, Liehr T, Klein E, Moassass F. Detailed analysis of an idic(Y)(q11.21) in a mosaic karyotype. Mol Med Report 2012, 6: 293-296.
Al-Achkar W, Wafa A, Moassass F, Othman MAK. A novel dic (17;18) (p13.1;q11.2) with loss of TP53 and BCR/ABL rearrangement in an Imatinib resistant chronic myeloid leukemia. Mol Cytogenet 2012, 5:36.
Baniahmad A. Benign prostate hyperplasia meets liver x receptor. Endocrinology 2012, 153:3558-3560.
Beetz C, Pieber TR, Hertel N, Schabhüttl M, Fischer C, Trajanoski S, Graf E, Keiner S, Kurth I, Wieland T, Varga RE, Timmerman V, Reilly MM, Strom TM, Auer-Grumbach M. Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. Am J Hum Genet 2012, 91:139-145.
Briest F, Berndt A, Clement J, Junker K, von Eggeling F, Grimm S, Friedrich K. Tumor-stroma interactions in tumorigenesis: lessons from stem cell biology. Front Biosci (Elite Ed) 2012, 4:1871-1887.
Bünger S, Haug U, Kelly M, Posorski N, Klempt-Giessing K, Cartwright A, Fitzgerald SP, Toner V, McAleer D, Gemoll T, Laubert T, Büning J, Fellermann K, Bruch HP, Roblick UJ, Brenner H, von Eggeling F, Habermann JK. A novel multiplex-protein array for serum diagnostics of colon cancer: a case-control study. BMC Cancer 2012, 12:393.
Bucksch M, Ziegler M, Kosayakova N, Mulhatino MV, Llerena JC Jr, Morlot S, Fischer W, Polityko AD, Kulpanovich AI, Petersen MB, Belitz B, Trifonov V, Weise A, Liehr T, Hamid AB. A New Multicolor Fluorescence In Situ Hybridization Probe Set Directed Against Human Heterochromatin: HCM-FISH. J Histochem Cytochem. 2012, 60:530-536.
Corrales NLL, Mrasek K, Voigt M, Liehr T, Kosyakova N. Copy number variations (CNVs) in human pluripotent cell-derived neuroprogenitors. Gene 2012, 506:377-379.
Corrales NLL, Mrasek K, Voigt M, Liehr T, Kosyakova N. Comprehensive characterization of genomic instability in pluripotent stem cells and their derived neuroprogenitor cell lines. Applied & Translational Genomics 2012, 1:21-24.
Elsing C, Georgiev T, Hübner CA, Boger R, Stremmel W, Schlenker T. Extracellular ATP induces cytoplasmic and nuclear Ca2+ transients via P2Y2 receptor in human biliary epithelial cancer cells (Mz-Cha-1). Anticancer Res 2012, 32:3759-3767.
Faria de Figueiredo A, Vieira TP, Liehr T, Bhatt S, Binato R, de Jesus Marques Salles T, Carboni E, Ribeiro RC, Macedo Silva ML, Abdelhay E. A rare cryptic and complex rearrangement leading to MLL-MLLT10 gene fusion masked by del(10)(p12) in a child with acute monoblastic leukemia (AML-M5). Leuk Res 2012, 36: e74-e77.
Eckmann-Scholz C, Tönnies H, Liehr T, Gesk S, Jonat W, Caliebe A. Normal prenatal ultrasound findings in a case with de novo mosaic small supernumerary marker chromosome 18 - how to counsel? J Mat-Fet Neonat Med 2012, 25:200-202.
Fonzar Hernandes MA, de Jesus Marques-Salles T, Mkrtchyan H, Soares-Ventura EM, Pereira Leite E, Cartaxo Muniz MT, Marquim Nogueira Cornélio MT, Liehr T, Santos N, Macedo Silva ML. Extra copies of der(21)t(12;21) plus deletion of ETV6 gene due to dic(12;18) in B-cell precursor ALL with poor outcome. Case Reports Genet, 2012, doi: 10.1155/2012/186532.
Galler K, Junker K, Franz M, Hentschel J, Richter P, Gajda M, Göhlert A, von Eggeling F, Heller R, Giavazzi R, Neri D, Kosmehl H, Wunderlich H, Berndt A. Differential vascular expression and regulation of oncofetal tenascin-C and fibronectin variants in renal cell carcinoma (RCC): implications for an individualized angiogenesis-related targeted drug delivery. Histochem Cell Biol 2012, 137:195-204.
Grosse A, Bartsch S, Baniahmad A. Androgen receptor-mediated gene repression. Mol Cell Endocrinol 2012, 352:46-56.
Guilherme RS, Klein E, Venner C, Hamid AB, Bhatt S, Melaragno MI, Volleth M, Polityko A, Kulpanovich A, Kosyakova N, Liehr T. Human ring chromosomes and small supernumerary marker chromosomes - do they have telomeres? Chromosome Res 2012, 20:825-835.
Hamid AB, Kreskowski K, Weise A, Kosayakova N, Mrasek K, Voigt M, Guilherme RS, Wagner R, Hardekopf D, Pekova S, Karamysheva T, Liehr T, Klein E. How to narrow down chromosomal breakpoints in small and large derivative chromosomes - a new probe set. J Appl Genet 2012, 53:259-269.
Hamid AB, Weise A, Voigt M, Bucksch M, Kosyakova N, Liehr T, Klein E. Clinical impact of proximal autosomal imbalances. Balk J Med Genet 2012, 15:15-21.
Hentschel J, Riesener G, Nelle H, Stuhrmann M, Schöner A, Sommerburg O, Fritzsching E, Mall MA, von Eggeling, Mainz JG. Homozygous CFTR mutation M348K in a boy with respiratory symptoms and failure to thrive. Disease-causing mutation or benign alteration? Eur J Pediatr 2012, 171:1039.
Hennings JC, Picard N, Huebner AK, Stauber T, Maier H, Brown D, Jentsch TJ, Vargas-Poussou R, Eladari D, Hübner CA. A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V-ATPase a4 subunit in the proximal tubule. EMBO Mol Med 2012, 4:1057-1071.
Hessenkemper W, Baniahmad A. Chaperones for proper androgen action - a plethora of assistance to androgen receptor function. Horm Mol Biol Clin Invest 2012, 11: 321-328.
Hilgen G, Huebner AK, Tanimoto N, Sothilingam V, Seide C, Garrido MG, Schmidt KF, Seeliger MW, Löwel S, Weiler R, Hübner CA, Dedek K. Lack of the sodium-driven chloride bicarbonate exchanger NCBE impairs visual function in the mouse retina. PLoS One 2012, 7:e46155.
Hovhannisyan G, Aroutiounian R, Liehr T. Chromosomal composition of micronuclei in human leukocytes exposed to mitomycin C. J Histochem Cytochem 2012, 60:316-322
Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs EW, Macdonald ME, Harris DJ, Quade BJ, Ropers HH, Shaffer LG, Kutsche K, Layman LC, Tommerup N, Kalscheuer VM, Shi Y, Morton CC, Kim CH, Gusella JF. Translocations disrupting PHF21A in the Potocki-Shaffer-Syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet 2012, 91:56-72.
Klag T, Schnetzke U, Benz R, Zanow J, Glaser A, Pörner TC, Scholl S, Reiter A, Hochhaus A, La Rosée P. Leriche's syndrome and Löffler endocarditis in a 30-year-old patient presenting with hypereosinophilic syndrome. Ann Hematol 2012, 91:139-141.
Klein E, Manvelyan M, Simonyan I, Hamid AB, Santos Guilherme R, Liehr T, Karamysheva T. Centromeric association of small supernumerary marker chromosomes with their sister-chromosomes detected by three dimensional molecular cytogenetics. Mol Cytogenet 2012, 5:15.
Klein E, Rocchi M, Ovens-Raeder A, Kosyakova N, Weise A, Ziegler M, Meins M, Morlot S, Fischer W, Volleth M, Polityko A, Mackie Ogilvie C, Kraus C, Liehr T. Five novel locations of neocentromeres in human: 18q22.1, Xq27.1~27.2, acro p13, acro p12, and heterochromatin of unknown origin. Cytogenet Genome Res 2012, 136:163-166.
Klopocki E, Lohan S, Doelken SC, Stricker S, Ockeloen CW, Soares Thiele de Aguiar R, Lezirovitz K, Mingroni Netto RC, Jamsheer A, Shah H, Kurth I, Habenicht R, Warman M, Devriendt K, Kordaß U, Hempel M, Rajab A, Mäkitie O, Naveed M, Radhakrishna U, Antonarakis SE, Horn D, Mundlos S. Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. J Med Genet, 49:119-125.
Klopocki E, Kähler C, Foulds N, Shah H, Joseph B, Vogel H, Lüttgen S, Bald R, Besoke R, Held K, Mundlos S, Kurth I. Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly. Eur J Hum Genet 2012, 20:705-708.
Kromeyer-Hauschild K, Gläßer N, Zellner K. Percentile curves for skinfold thickness in 7- to 14-year-old children and adolescents from Jena, Germany. Eur J Clin Nutr 2012, 66:613-621.
Kuechler A, Hentschel J, Kurth I, Stephan B, Prott EC, Schweiger B, Schuster A, Wieczorek D, Lüdecke HJ. A novel homozygous WDR72 mutation in two siblings with amelogenesis imperfecta and mild short stature. Mol Syndromol 2012, 3:223-229.
Liebmann L, Beetz C, Thorwarth M, Deufel T, Hübner CA. Morphological and electrophysiological features of mature neurons in differentiated skin-derived precursor cells. J Stem Cell Regenerat Med 2012, 8:35.
Ma K, Qiu L, Mrasek K, Zhang J, Liehr T, Quintana LG, Li Z. Common fragile sites: genomic hotspots of DNA damage and carcinogenesis. Int J Mol Sci 2012, 13:11974-11999.
Mahmood S, Beetz C, Tahir MM, Imran M, Mumtaz R, Bassmann I, Jahic A, Malik M, Nürnberg G, Hassan SA, Rana S, Nürnberg P, Hübner CA. First HPSE2 missense mutation in urofacial syndrome. Clin Genet 2012, 81:88-92.
Manolakos E, Sifakis S, Sotiriou S, Peitsidis P, Eleftheriades M, Mersinias V, Liehr T, Thomaidis L, Kitsos G, Papoulidis I, Petersen MB, Orru S. Prenatal detection of an inverted duplication deletion in the long arm of chromosome 1 in a fetus with increased nuchal translucency. Molecular cytogenetic analysis and review of the literature. Clin Dysmorphol 2012, 21:101-105.
Mulatinho MV, Luiz de Carvalho Serao C, Scalco F, Hardekopf D, Pekova S, Mrasek K, Liehr T, Weise A, Rao N, Llerena JC Jr. Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: Case report. Mol Cytogenet 2012, 5:30.
Ney-Garcia DR, Liehr T, Bhatt S, de Souza MT, Capela de Matos RR, Binato R, Jordy FC, Abdelhay E, Ribeiro RC, Silva MLM. Molecular cytogenetic studies reveal an unexpected chromosomal inversion as a variant of t(12;21)(p13;q22) in a child with B-cell precursor acute lymphoblastic leukemia. Leuk Lymphoma 2012, 53:342-344.
Ney-Garcia DR, Liehr T, Bhatt S, de Souza MT, de Matos RR, Pimenta G, Pulcheri W, Ribeiro RC, Abdelhay E, Silva MLM. Childhood B-cell progenitor acute lymphoblastic leukemia presenting a three-way t(11;12;21)(q14;p13;q22) with a RUNX1 gene signal on chromosome 11. Int J Hematol 2012, 95:112-114.
Othman MAK, Lier A, Junker S, Kempf P, Dorka F, Gebhart E, Sheth FJ, Grygalewicz B, Bhatt S, Weise A, Mrasek K, Liehr T, Manvelyan M. Does positioning of chromosomes 8 and 21 in interphase drive t(8;21) in acute myelogenous leukemia? BioDiscovery 2012, 4:4.
Papoulidis I, Kontodiou M, Tzimina M, Saitis I, Hamid AB, Klein E, Kosyakova N, Kordaß U, Kunz J, Siomou E, Nicolaides P, Orru S, Thomaidis L, Liehr T, Petersen MB, Manolakos E. Tetrasomy 9p mosaicism associated with a normal phenotype in two cases. Cytogenet Genome Res 2012, 136:237-241.
Plachta-Danielzik S, Gehrke MI Kehden B, Kromeyer-Hauschild K, Grillenberger M, Willhöft C, Bosy-Westphal A, Müller MJ. Body fat percentiles for german children and adolescents. Obes Facts 2012, 5:77.
Redies C, Hertel N, Hübner CA. Cadherins and neuropsychiatric disorders. Brain Res 2012, 1470:130-144.
Schulz S, Fröber R, Kraus C, Schneider U. Prenatal diagnosis of hypoplastic left heart syndrome associated with Noonan Syndrome and de novo RAF1 mutation. Prenat Diagn 2012, 32:1016-1018.
Seja P, Schonewille M, Spitzmaul G, Badura A, Klein I, Rudhard Y, Wisden W, Hübner CA, De Zeeuw CI, Jentsch TJ. Raising cytosolic Cl- in cerebellar granule cells affects their excitability and vestibulo-ocular learning. EMBO J 2012, 31:1217-1230.
Serra A, Eirich K, Winkler AK, Mrasek K, Göhring G, Barbi G, Cario H, Schlegelberger B, Royer-Pokora B, Liehr T, Leriche C, Henne-Bruns D, Barth TF, Schindler D. Shared copy number variation in simultaneous nephroblastoma and neuroblastoma due to fanconi anemia. Mol Syndromol 2012, 3:120-130.
Sheth F, Gohel N, Liehr T, Akinde O, Desai M, Adeteye O, Sheth J. Gain of chromosome 4qter and loss of 5pter - an unusual case with features of Cri du chat syndrome (CdCS). Case Reports Genet 2012, Article ID 153405. doi:10.1155/2012/153405
Skeik N, Rooke TW, Davis MD, Davis DM, Kalsi H, Kurth I, Richardson RC. Severe case and literature review of primary erythromelalgia: novel SCN9A gene mutation. Vasc Med 2012, 17:44-49.
Varga RE, Mumtaz R, Jahic A, Rudenskaya GE, Sánchez-Ferrero E, Auer-Grumbach M, Hübner CA, Beetz C. MLPA-based evidence for sequence gain: pitfalls in confirmation and necessity for exclusion of false positives. Anal Biochem 2012, 421:799-801.
Vetro A, Manolakos E, Petersen MB, Thomaidis L, Liehr T, Croci G, Franchi F, Marinelli M, Meneghelli E, Dal Bello B, Cesari S, Iasci A, Arrigo G, Zuffardi O. Unexpected results in the constitution of small supernumerary marker chromosomes. Europ J Med Genet 2012, 55:185-190.
von Eggeling F, Crecelius AC, Schubert US, Guntinas-Lichius O, Ernst G. MALDI-Imaging: What can be expected? Eur J Radiol. 2012, 81 Suppl 1:S183-184
Walter J, Handel LL, Brodhun M, van Rossum D, Hanisch UK, Liebmann L, Heppner F, Goldbrunner R, Koch A, Kuhn SA. Expression of coagulation factors and their receptors in tumor tissue and coagulation factor upregulation in peripheral blood of patients with cerebral carcinoma metastases. J Cancer Res Clin Oncol 2012, 138:141-151.
Weise A, Mrasek K, Klein E, Mulatinho M, Llerena Jr. JC, Hardekopf D, Pekova S, Bhatt S, Kosyakova N, Liehr T. Microdeletion and microduplication syndromes. J Histochem Cytochem 2012, 60:346-358.