Institut für Humangenetik

 

  • Ahmad A, Dad R, Ullah MI, Baig TA, Ahmad IN, Nasir A, Hübner CA, Hassan MJ. Clinical and genetic studies in patients with Lafora disease from Pakistan. J Neurol Sci 2017; 373:263-267.
  • Ahmad A, Dad R, Ullah MI, Baig TA, Ahmad IN, Nasir A, Hübner CA, Hassan MJ. Corrigendum to "Clinical and genetic studies in patients with Lafora disease from Pakistan" [J. Neurol. Sci. 373 (2017) 263-267]. J Neurol Sci. 2017 Apr 15;375:281.
  • Al-Achkar W, Moassass F, Aroutiounian R, Harutyunyan T, Liehr T, Wafa A. Effect of Glutathione S-transferase mu 1 (GSTM1) gene polymorphism on chronic myeloid leukemia risk and Imatinib treatment response. Metagene 2017, 12:113-117.
  • Blanquie O, Liebmann L, Hübner CA, Luhmann HJ, Sinning A. NKCC1-mediated GABAergic signaling promotes postnatal cell death in neocortical cajal-retzius cells. Cereb Cortex. 2017, 27:1644-1659.
  • Borges ML, Capela de Matos RR, Amaral BD, Soares-Ventura EM, Leite EP, Silva MO, Cornélio MT, Silva ML, Liehr T, Marques-Salles T. Molecular cytogenetic approach to characterize novel and cryptic chromosome abnormalities in childhood myeloid malignances of Fanconi anemia. J Ped Hematol Oncol 2017, 39:e85-e91.
  • Busch A, Žarković M, Lowe C, Jankofsky M, Ganschow R, Buers I, Kurth I, Reutter H, Rutsch F, Hübner CA. Mutations in CRLF1 cause familial achalasia. Clin Genet. 2017, 92:104-108.
  • Coci EG, Codutti L, Fink C, Bartsch S, Grüning G, Lücke T, Kurth I, Riedel J. Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy. Mol Cell Probes. 2017 Apr;32:18-23.
  • Coci EG, Auhuber A, Langenbach A, Mrasek K, Riedel J, Leenen A, Lücke T, LiehrT. Novel unbalanced translocations affecting the long arms of chromosomes 10 and 22 cause complex syndromes with very severe neurodevelopmental delay, speech impairment, autistic behavior, and epilepsy. Cytogenet Genome Res 2017, 151:171-178.
  • Disha K, Schulz S, Kuntze T, Girdauskas E. Transforming growth factor beta-2 mutations in Barlow's disease and aortic dilatation. Ann Thorac Surg. 2017, 104:e19-e21.
  • Duijster D, Monse B, Dimaisip-Nabuab J, Djuharnoko P, Heinrich-Weltzien R, Hobdell M, Kromeyer-Hauschild K, Kunthearith Y, Mijares-Majini MC, Siegmund N, Soukhanouvong P, Benzian H. 'Fit for school' - a school-based water, sanitation and hygiene programme to improve child health: Results from a longitudinal study in Cambodia, Indonesia and Lao PDR. BMC Public Health. 2017 Apr 5;17(1):302.
  • Fischer M, Kosyakova N, Liehr T, Dobrowolski P. Large deletion on the Y-chromosome long arm (Yq) of C57BL/6JBomTac inbred mice. Mamm Genome 2017, 28:31-37.
  • Heimrich KG, Gühne F, Schulz S, Mutschke S, Stallmach A, Rüddel J. [Gastroparesis in Noonan syndrome]. Z Gastroenterol. 2017, 55:145-148.
  • Hennings JC, Andrini O, Picard N, Paulais M, Huebner AK, Cayuqueo IK, Bignon Y, Keck M, Cornière N, Böhm D, Jentsch TJ, Chambrey R, Teulon J, Hübner CA, Eladari D. The ClC-K2 chloride channel is critical for salt handling in the distal nephron. J Am Soc Nephrol 2017;28:209-217.
  • Hochstenbach R, Poot M, Liehr T. Mechanisms of origin and clinical effects of multiple small supernumerary marker chromosomes, each derived from a different chromosome. OBM Genetics 2017; 1 doi:10.21926/obm.genet.1701002
  • Liehr T. “Classical cytogenetics” is not equal to “banding cytogenetics”. Mol Cytogenet 2017; 10:3
  • Liehr T. Chronic lymphocytic leukemia (CLL) diagnostics better to do in cultivated than native cells. (http://atlasofscience.org/chronic-lymphocytic-leukemia-cll-diagnostics-better-to-do-in-cultivated-than-native-cells/)
  • Liehr T. How to characterize best the genetic content of small supernumerary marker chromosomes. (http://atlasofscience.org/how-to-characterize-best-the-genetic-content-of-small-supernumerary-marker-chromosomes/
  • Liehr T. Human cells can count their chromosomes – but how do they do? http://atlasofscience.org/human-cells-can-count-their-chromosomes-but-how-do-they-do/
  • Liehr T. What about noninvasive prenatal testing (NIPT) from ‘cell-free fetal DNA’ (cffDNA)? http://atlasofscience.org/what-about-noninvasive-prenatal-testing-nipt-from-cell-free-fetal-dna-cffdna/
  • Liehr T. Thorough discussion of cancer research – thoughts against the main stream. Europ J Hum Genet 2017, 25: 902-903.
  • Liehr T, Lauten A, Schneider U, Schleussner E, Weise A. Noninvasive prenatal testing (NIPT) – when is it advantageous to apply? Biomed Hub 2017; 2:458432.
  • Liehr T, Carreira IM, Aktas D, Bakker E, Rodríguez de Alba M, Coviello DA, Florentin L, Scheffer H, Rincic M; the Clinical Laboratory Geneticists Professional Branch Board, European Board of Medical Genetics, Vienna, Austria. European registration process for Clinical Laboratory Geneticists in genetic healthcare. Europ J Hum Genet 2017, 25:515-519
  • Liehr T, Weise A, Schreyer I. Humangenetische Diagnostik – muss es immer NGS sein? BIOspektrum 2017, 03/17:350-351
  • Kubicova E, Trifonov V, Borovecki F, Liehr T, Rincic M, Kosyakova N, Hussein SS. First molecular cytogenetic characterization of murine malignant mesothelioma cell line AE17 and in silico translation to the human genome. Curr Bioinform 2017, 12:11-18.
  • Merlo MA, Iziga R, Portela S, Cross I, Kosyakova N, Liehr T, Manchado M, Rebordinos L. Analysis of the histone cluster in Senegalese sole (Solea senegalensis): evidence for a divergent evolution of two canonical histone clusters. Genome 2017, 60:441-453.
  • Mumtaz R, Trepiccione F, Hennings JC, Huebner AK, Serbin B, Picard N, Ullah AKMS, Păunescu TG, Capen DE, Lashhab RM, Mouro-Chanteloup I, Alper SL, Wagner CA, Cordat E, Brown D, Eladari D, Hübner CA. Intercalated cell depletion and vacuolar H+-ATPase mistargeting in an Ae1 R607H knockin model. J Am Soc Nephrol. 2017, 28:1507-1520.
  • Portela-Bens S, Merlo MA, Rodríguez ME, Cross I, Manchado M, Kosyakova N, LiehrT, Rebordinos L. Integrated gene mapping and synteny studies give insights into the evolution of a sex proto-chromosome in Solea senegalensis. Chromosoma 2017; 126:261-277.
  • Saini AG, Padmanabh H, Sahu JK, Kurth I, Voigt M, Singhi P. Hereditary sensory polyneuropathy, pain insensitivity and global developmental delay due to novel mutation in PRDM12 gene. Indian J Pediatr. 2017, 84:332-333.
  • Salameh AI, Hübner CA, Boron WF. Role of Cl- -HCO3- exchanger AE3 in intracellular pH homeostasis in cultured murine hippocampal neurons, and in crosstalk to adjacent astrocytes. J Physiol 2017;595:93-124.
  • Santiago F, Lima S, Pinheiro T, Silvestre RT, Otero UB, Tabalipa MM, Kosyakova N, Ornellas MH, Liehr T, Alves G. Benzene poisoning, clinical and blood abnormalities in two Brazilian female gas station attendants: two case reports. BMC Res Notes. 2017,10:52.
  • Sinning A, Radionov N, Trepiccione F, López-Cayuqueo KI, Jayat M, Baron S, Cornière N, Alexander RT, Hadchouel J, Eladari D, Hübner CA, Chambrey R. Double Knockout of the Na+-Driven Cl-/HCO3-exchanger and Na+/Cl- cotransporter induces hypokalemia and volume depletion. J Am Soc Nephrol 2017;28:130-139.
  • Thooptianrat T, Chaveerach A, Sudmoon R, Tanee T, Liehr T, Babayan N. Screening of phytochemicals and toxicity of medicinal plants, Dillenia species, reveals potential natural product resources. J Food Biochem. 2017;e12363.
  • Valkova C, Liebmann L, Krämer A, Hübner CA, Kaether C. The sorting receptor Rer1 controls Purkinje cell function via voltage gated sodium channels. Sci Rep 2017;7:41248.
  • Volleth M, Truong Son N, Wu Y, Li Y, Yu W, Lin L-K, Arai S, Trifonov V, Liehr T, Harada M. Comparative chromosomal studies in Rhinolophus formosae and R. luctus from China and Vietnam: elevation of R. l. lanosus to species rank. Acta Chiropt 2017, 19: 41-50.
  • Wafa A, As’sad M, Liehr T, Aljapawe A, Al-Achkar W. Childhood pre-B-acute lymphoblastic leukemia with translocation t(1;19)(q21.1;p13.3) and two additional chromosomal aberrations involving chromosomes 1, 6 and 13. J Med Case Rep 2017, 11:94.
  • Wafa A, Almedani S, Liehr T, Ziegler M, Aljapawe A, Al Achkar W. Complex karyotype involving six chromosomes, with one dicentric and three yet unreported acquired chromosomal aberrations in a case of splenic marginal zone lymphoma. Gene Rep 2017; 8:79-83
  • Yano CF, Bertollo LAC, Ezaz T, Trifonov V, Sember A, Liehr T, Cioffi MB. Highly conserved Z and molecularly diverged W chromosomes in the fish genus Triportheus (Characiformes, Triportheidae). Heredity 2017; 118:276-283.
  • Yano CF, Bertollo LA, Rebordinos L, Merlo MA, Liehr T, Portela-Bens S, Cioffi MB. Evolutionary dynamics of rDNAs and U2 small nuclear DNAs in Triportheus (Characiformes, Triportheidae): High variability and particular syntenic organization. Zebrafish 2017, 14:146-154

 

 

Books:

Fluorescence in situ Hybridization (FISH) – Application Guide, T Liehr (Editor), 2nd Ed., Springer, Berlin, 2017, ISBN: 978-3662529577

FISH-book 2016

                                               Book perfomrance report:

                                             Year            Chapterdownloads
                                            2016                    10,230

 

 

Number of publications per year (1994-2016)

Statistik Institut






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Tel. 03641-934924
Fax. 03641-934925

Für Studierende und Gäste

Institut für Humangenetik
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07747 Jena

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Fax. 03641-9-396802

postalische Adresse
Postfach 07740 Jena

Leiter
Prof. Dr. Christian Hübner


Zertifikate

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