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Institut für Humangenetik
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Institut für Humangenetik / Publikationen / 2018

2018

  • Akbaroghli S, Tonekaboni SH, Kariminejad R, Liehr T, Coci EG. De novo interstitial 2.33 Mb Deletion in 8q24.3: New insights on a very rare partial monosomy syndrome. Clin Dysmorphol 2018; 27:97-100.
  • Al-Rikabi ABH, Pekova S, Fan X, Jančušková T, Liehr T. Small supernumerary marker chromosome may provide information on dosage-insensitive pericentric regions in human. Curr Genomics 2018; 19:192-199.
  • Araújo T, Khayat A, Quintana L, Calcagno D, Mourão R, Modesto A, Paiva J, Lima A, Moreira F, Oliveira E, Souza M, Othman M, Liehr T, Abdelhay E, Gomes R, Santos S, Assumpção P. Piwi like RNA-mediated gene silencing 1 gene as a possible major player in gastric cancer. World J Gastroenterol 2018; 24:5338-5350.
  • Barby FF, Ráb P, Lavoué S, Ezaz T, Bertollo LAC, Kilian A, Maruyama SR, de Oliveira EA, Artoni RF, Santos MH, Jegede OI, Hatanaka T, Tanomtong A, Liehr T, de Bello Cioffi M. From chromosomes to genome: Insights into the evolutionary relationships and biogeography of old world knifefishes (Notopteridae; Osteoglossiformes). Genes 2018, 9:306.
  • Beetz C, Khundadze M, Goldberg LV, Hübner CA. Erbliche spastische Spinalparalysen: aktuelle Erkenntnisse und Entwicklungen. Med Genetik 2018; 30:238-245
  • Benítez EO, Morales JJ, Muñoz LA, Hübner CA, Mutchinick OM. A novel GMPPA mutation in two adult sisters with achalasia, alacrima, short stature, dysmorphism, and intellectual disability. Mol Syndromol 2018; 9:110-114.
  • Bock AS, Günther S, Mohr J, Goldberg LV, Jahic A, Klisch C, Hübner CA, Biskup S, Beetz C. A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3'UTR-encoded, aggregation-inducing motif. Hum Mutat 2018; 39:193-196.
  • Capela de Matos RR, Othman MAK, Ferreira GM, Costa ES, Melo JB, Carreira IM, de Souza MT, Lopes BA, Emerenciano M, Land MGP, Liehr T, Ribeiro RC, Silva MLM. Molecular approaches identify a cryptic MECOM rearrangement in a child with a rapidly progressive myeloid neoplasm. Cancer Genet 2018; 221:25-30.
  • Castiglia L, Husain R, Marquardt I, Fink C, Liehr T, Serino D, Elia M, Coci E. 7q11.23 micro-duplication syndrome: neuro-physiological and neuro-radiological insights into a rare chromosomal disorder. J Intellect Disab Res 2018; 62:359-370.

  • Cross I, Portela-Bens S, García-Angulo A, Merlo MA, Rodríguez ME, Liehr T, Rebordinos L. A preliminary integrated genetic map distinguishes every chromosome pair and locates essential genes related to abiotic adaptation of Crassostrea angulata/gigas. BMC Genet. 2018, 19:104.

  • Čulić V, Lasan-Trcić R, Liehr T, Lebedev IN, Pivić M, Pavelic J, Vulić R. A familial small supernumerary marker chromosome 15 associated with cryptic mosaicism with two different additional marker chromosomes derived de novo from chromosome 9: Detailed case study and implications for recurrent pregnancy loss. Cytogenet Genome Res. 2018;156(4):179-184.

  • Darr-Foit S, Schliemann S, Schulz S, Elsner P. Buschke-Ollendorff syndrome due to a novel LEMD3 mutation - an unusual case of alopecia. J Dtsch Dermatol Ges 2018, 16:348-349.

  • de Oliveira EA, Sember A, Bertollo LAC, Yano CF, Ezaz T, Moreira-Filho O, Hatanaka T, Trifonov V, Liehr T, Hamid Al-Rikabi AB, Ráb P, Pains H, de Bello Cioffi M. Tracking the evolutionary pathway of sex chromosomes among fishes: characterizing the unique XX/XY1Y2 system in Hoplias malabaricus (Teleostei, Characiformes). Chromosoma 2018; 127:115-128
  • De Souza MT, Vera-Lozada G, Othman M, Marques-Salles TJ, Pinto LW, da Rocha MM, Rouxinol S, Liehr T, Ribeiro RC, Hassan R, Silva MLM. Molecular and cytogenetic studies in a child with Burkitt lymphoma and ataxia-telangiectasia syndrome harboring MYC overexpression and partial trisomy 8. Ann Lab Med 2018; 38:63-66.
  • Deutsche Gesellschaft für Humangenetik e.V. (GfH), Berufsverband Deutscher Humangenetiker e.V (T Liehr and A Weise included in commission). S2k-Leitlinie Humangenetische Diagnostik und Genetische Beratung. Med Gen 2018; 30:469-522.
  • Dimaisip-Nabuab J, Duijster D, Benzian H, Heinrich-Weltzien R, Homsavath A, Monse B, Sithan H, Stauf N, Susilawati S, Kromeyer-Hauschild K. Nutritional status, dental caries and tooth eruption in children: a longitudinal study in Cambodia, Indonesia and Lao PDR. BMC Pediatr. 2018;18:300
  • García-Angulo A, Merlo MA, Portela-Bens S, Rodríguez ME, García E, Al-Rikabi A, Liehr T, Rebordinos L. Evidence for a Robertsonian fusion in Solea senegalensis (Kaup, 1858) revealed by zoo-FISH and comparative genome analysis. BMC Genomics 2018, 19:818.

  • Gillessen-Kaesbach G, Albrecht B, Eggermann T, Elbracht M, Mitter D, Morlot S, van Ravenswaaij-Arts CMA, Schulz S, Strobl-Wildemann G, Buiting K, Beygo J. Molecular and clinical studies in 8 patients with Temple syndrome. Clin Genet 2018; 93:1179-1188.

  • Girdauskas E., Petersen J., Neumann N., Ungelenk M., Kurth I., Reichenspurner H., Zeller T. MiR-145 expression and rare NOTCH1 variants in bicuspid aortic valve-associated aortopathy. PLoS One. 2018; 13:e0200205.

  • Grigoryan A, Guidi N, Senger K, Liehr T, Soller K, Marka G, Vollmer A, Markaki Y, Leonhardt H, Buske C, Lipka D, Plass C, Zheng Y, Mulaw MA, Geiger H, Florian MC. LaminA/C regulates epigenetic and chromatin architecture changes upon aging of hematopoietic stem cells. Genome Biology 2018, 19:189.

  • Haag N, Schüler S, Nietzsche S, Hübner CA, Strenzke N, Qualmann B, Kessels MM. The actin nucleator cobl is critical for centriolar positioning, postnatal planar cell polarity refinement, and function of the cochlea. Cell Rep. 2018;24:2418-2431.e6.

  • Hatanaka T, de Oliveira EA, Ráb P, Yano CF, Bertollo LAC, Ezaz T, Jegede OOI, LiehrT, Olaleye VF, de Bello Cioffi M. First Chromosomal Analysis in Gymnarchus niloticus (Gymnarchidae, Osteoglossiformes): Insights into the Karyotype Evolution of this ancient fish order. Biol J Linn Soc 2018; 125:83-92.
  • Kirmse K, Hübner CA, Isbrandt D, Witte OW, Holthoff K. GABAergic transmission during brain development: multiple effects at multiple stages. Neuroscientist 2018; 24:36-53.
  • Komatsuzaki S, Ediga RD, Okun JG, Kölker S, Sauer SW. Impairment of astrocytic glutaminolysis in glutaric aciduria type I. J Inherit Metab Dis. 2018; 41:91-99.
  • Liehr T. Importance of databases for human genetic diagnostics. J Genet Genom 2018, 2:e105.
  • Liehr T, Hamid Al-Rikabi AB. Impaired spermatogenesis due to small supernumerary marker chromosomes: The reason for infertility is only reliably ascertainable by cytogenetics. Sex Dev 2018; 12:281-287.
  • Liehr T, Schreyer I, Kuechler A, Manolakos E, Singer S, Dufke A, Wilhelm K, Jančušková T, Čmejla R, Othman MAK, Al-Rikabi AH, Mrasek K, Ziegler M, Kankel S, Kreskowski K, Weise A. Parental origin of deletions and duplications about the necessity to check for cryptic inversions. Mol Cytogenet 2018; 11:20.
  • Liehr T, Acquarola N, Pyle K, St-Pierre S, Rinholm M, Bar O, Wilhelm K, Schreyer I. Next generation phenotyping in Emanuel and Pallister Killian Syndrome using computer-aided facial dysmorphology analysis of 2D photos. Clin Genet 2018; 93:378-381.
  • Liehr T, Ziegler M, Kosyakova N, Al-Rikabi ABH. Easy approach to gain interphase cells for fluorescence in situ hybridization. OBM Genetics 2018; 2:021
  • LiehrT, Schreyer I, Mrasek K, Weise A. Neue Entwicklungen in der humangenetischen pränatalen Diagnostik. Ärzteblatt Thüringen 2018; 12: 689-691.
  • Maass PG, Weise A, Rittscher K, Lichtenwald J, Barutcu AR, Liehr T, Aydin A, WefeldNeuenfeld Y, Pölsler L, Tinschert S, Rinn JL, Luft FC, Bähring S. Reorganization of interchromosomal interactions in the 2q37deletion syndrome. EMBO J 2018; 37:e96257
  • Moassass F, Wafa A, Liehr T, Al-Ablog A, AL Achkar W. Down syndrome associated childhood myeloid leukemia with yet unreported acquired chromosomal abnormalities and a new potential adverse marker: dup(1)(q25q44). Mol Cytogenet 2018; 11:22.
  • Moysés-Oliveira M, Giannuzzi G, Fish RJ, Rosenfeld JA, Petit F, de Fatima Soares M, Domenici Kulikowski L, Di Battista A, Zamariolli M, Xia F, Liehr T, Kosyakova N, Carvalheira G, Parker M, Seaby EG, Ennis S, Gilbert RD, Hagelstrom T, Basel DG, Andrieux J, Stumpp T, Antunes F, Pereira GJ, Neerman-Arbez M, Meloni VA, Drummond-Borg M, Melaragno MI, Reymond A. Inactivation of AMMECR1 is associated with growth, bone and heart alterations. Hum Mut 2018; 39:281-291.
  • Münch J, Billig G, Hübner CA, Leinders-Zufall T, Zufall F, Jentsch TJ. Ca2+-activated Cl- currents in the murine vomeronasal organ enhance neuronal spiking but are dispensable for male-male aggression. J Biol Chem 2018; 293:10392-10403.
  • Ornellas MH, Maioli MC, Lucena S, Bastos E, Chaves TS, Vieira de Melo K, Carvalho M, Liehr T. Complex karyotype including ring 11 chromosome in woman with acute myeloid leukemia. São Paulo Medical Journal 2018; 136:361-367.
  • Othman MAK , Grygalewicz , Kołkowska-Leśniak A, Melo JB, Carreira IM, Liehr T. Cryptic NUP214-ABL1 fusion with complex karyotype, episomes and intra-tumor genetic heterogeneity in a T-cell lymphoblastic lymphoma. J Cancer Metastasis Treat 2018; 4:50.
  • Papoulidis I, Vetro A, Paspaliaris V, Ziegler M, Kreskowski K, Daskalakis G, Papadopoulos V, Dagklis T, Liehr T, Thomaidis L, Manolakos E. A girl with 10 Mb distal Xp deletion arising from maternal pericentric inversion: Clinical data and molecular characterization. Curr Genomics 2018; 19:240-246.

  • Pensold D, Zimmer G. Single-cell transcriptomics reveals regulators of neuronal migration and maturation during brain development. J Exp Neurosci. 2018;12:1179069518760783.

  • Priya PK, Mishra VV, Liehr T, Ziegler M, Tiwari S, Patel A, Chettiar SS, Patel H. Characterization of a complex chromosomal rearrangement involving chromosomes 1, 3 and 4 in a slightly affected male partner with unsuccessful obstetric history. J Assist Reprod Genet 2018; 35:721-725.

  • Rhode H, Liehr T, Kosyakova N, Rinčic M, Azawi SSH. Molecular cytogenetic characterization of two murine colorectal cancer cell lines. OBM Genetics 2018; 2(3) doi:10.21926/obm.genet.1803037.
  • Ribeiro IP, Rodrigues JM, Mascarenhas A, Kosyakova N, Caramelo F, Liehr T, Melo JB, Carreira IM. Cytogenetic, genomic, and epigenetic characterization of the HSC-3 tongue cell line with lymph node metastasis. J Oral Sci 2018; 60:70-81.
  • Saenjundaeng P, de Bello Cioffi M, Aguiar de Oliveira E, Tanomtong A, Supiwong W, Phimphan S, Collares-Pereira M, Sember A, Bertollo LAC, Liehr T, Yano CF, Hatanaka T, Rab P. Chromosomes of Asian cyprinid fishes: Cytogenetic analysis of two representatives of small paleotetraploid tribe Probarbini. Molecular Cytogenetics 2018; 11:51.
  • Sangpakdee W, Tanomtong A, Chaveerach A, Pinthong K, Trifonov V, Loth K, Hensel C, Liehr T, Weise A, Fan X. Molecular cytogenetic analysis of one African and five Asian macaque species reveals identical karyotypes as in mandrill. Curr Genomics 2018; 19:207-215.

  • Schulz S, Mensah MA, de Vries H, Fröber R, Romeike B, Schneider U, Borte S, Schindler D, Kentouche K.Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings. Eur J Hum Genet 2018, 26:1282-1287.

  • Sheth F, Liehr T, Mrasek K, Andrieux J, Tewari S, Lubna N, Sheth J. sSMC characterization in a male with Turner syndrome stigmata. OBM Genetics 2018; 2(3) doi:10.21926/obm.genet.1803033.
  • Sheth F, Liehr T, Shah V, Sheth H, Tewari S, Solanki D, Trivedi S, Sheth J. A child with intellectual disability and dysmorphism due to complex ring chromosome 6: Identification of molecular mechanism with review of literature. Ital J Pediatr 2018; 44:114
  • Wafa A, Ali B, Aljapawe A, Liehr T, ALmedani S, Al Achkar W. Unreported combination of rearrangements in a childhood B-cell acute lymphoblastic leukemia case: Coexistence of translocation t(8;14) and monoallelic loss of tumor suppressor gene TP53. Gene Reports 2018; 10:66-70.
  • Wafa A, ALmedania S, Aljapawe A, Liehr T, Soulaiman SE, Mouna R, Othman MAK, ALachkar W. A new adult AML case with an extremely complex karyotype, remission and relapse combined with high hyperdiploidy of a normal chromosome set in secondary AML. BMC Hematology 2018; 18:21.
  • Weihrauch-Blüher S, Kromeyer-Hauschild K, Graf C, Widhalm K, Korsten-Reck U, Jödicke B, Markert J, Müller MJ, Moss A, Wabitsch M, Wiegand S. Current guidelines for obesity prevention in childhood and adolescence. Obes Facts. 2018; 11:263-276.
  • Wilhelm K, Pentzold C, Schoener S, Arakelyan A, Hakobyan A, Mrasek K, Weise A. Fragile sites as drivers of gene and genome evolution. Curr Genet Med Rep 2018, 6:136-143.

 

 

Number of publications per year (1994-2016)