Institut für Humangenetik

Veröffentlichungen in 2015

  • Lemke JR: Humangenetik. In: Schöni (Hg.): Berner Datenhandbuch Pädiatrie., Hans Huber Verlag, Bern (2015); 185-202, ISBN 978-3-456-85284-3
  • Lemke JR: From conventional genetic Analysis to next Generation sequencing in diagnostics of epilepsies. In: Moshé (Hg.): Seizures and Syndromes of onset in the Two First Life., John Libbey , Montrouge (2015); 95-104, ISBN 978-2-7420-1397-5
  • Doht F, Hentschel J, Fischer N, Lehmann T, Markert UR, Boer K, Pfister W, Pletz MW, Guntinas-Lichius O, Mainz JG: Reduced effect of intravenous antibiotic treatment on sinonasal markers in pulmonary inflammation. In: Rhinology 2015; 53(3): 249-259 [IF 3,761]
  • Larsen J, Carvill GL, Gardella E, Kluger G, Schmiedel G, Barisic N, Depienne C, Brilstra E, Mang Y, Nielsen JE, Kirkpatrick M, Goudie D, Goldman R, Jahn JA, Jepsen B, Gill D, Docker M, Biskup S, McMah: The phenotypic spectrum of SCN8A encephalopathy. In: Neurology 2015; 84(5): 480-489 [IF 8,185]
  • Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhuttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinri: Transcriptional regulator PRDM12 is essential for human pain perception. In: Nat Genet 2015; 47(7): 803-808 [IF 29,352]
  • Lau M, Platzer K, Tüshans L, Kohl M, Stichtenoth G: Verzögerte Diagnose eines akuten Abdomens - Fünfzehn Tage bis zur Diagnosestellung. In: Monatschrift Kinderheilkunde 2015; 163(9): 872-876 [IF 0,229]
  • Muller U, Hentschel J, Janhsen WK, Hunniger K, Hipler UC, Sonnemann J, Pfister W, Boer K, Lehmann T, Mainz JG: Changes of Proteases, Antiproteases, and Pathogens in Cystic Fibrosis Patients Upper and Lower Airways after IV-Antibiotic Therapy. In: Mediators Inflamm 2015; 2015: 626530 [IF 3,236]
  • Kim GJ, Sock E, Buchberger A, Just W, Denzer F, Hoepffner W, German J, Cole T, Mann J, Seguin JH, Zipf W, Costigan C, Schmiady H, Rostasy M, Kramer M, Kaltenbach S, Rosler B, Georg I, Troppmann E, Tei: Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development. In: J Med Genet 2015; 52(4): 240-247 [IF 6,335]
  • Sukalo M, Tilsen F, Kayserili H, Muller D, Tuysuz B, Ruddy DM, Wakeling E, Orstavik KH, Bramswig NC, Snape KM, Trembath R, De Smedt M, van der Aa N, Skalej M, Mundlos S, Wuyts W, Southgate L, Zenker M: DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. In: Hum Mutat 2015; 36(11): 1112 [IF 5,34]
  • Hardies K, May P, Djemie T, Tarta-Arsene O, Deconinck T, Craiu D, Helbig I, Suls A, Balling R, Weckhuysen S, De Jonghe P, Hirst J: Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly. In: Hum Mol Genet 2015; 24(8): 2218-2227 [IF 6,393]
  • Guipponi M, Chentouf A, Webling KE, Freimann K, Crespel A, Nobile C, Lemke JR, Hansen J, Dorn T, Lesca G, Ryvlin P, Hirsch E, Rudolf G, Rosenberg DS, Weber Y, Becker F, Helbig I, Muhle H, Salzmann A, : Galanin pathogenic mutations in temporal lobe epilepsy. In: Hum Mol Genet 2015; 24(11): 3082-3091 [IF 6,393]
  • Beygo J, Elbracht M, de Groot K, Begemann M, Kanber D, Platzer K, Gillessen-Kaesbach G, Vierzig A, Green A, Heller R, Buiting K, Eggermann T: Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32. In: Eur J Hum Genet 2015; 23(2): 180-188 [IF 4,349]
  • Sonnemann J, Grauel D, Blumel L, Hentschel J, Marx C, Blumrich A, Focke K, Becker S, Wittig S, Schinkel S, Kramer OH, Beck JF: RETRA exerts anticancer activity in Ewings sarcoma cells independent of their TP53 status. In: Eur J Cancer 2015; 51(7): 841-851 [IF 5,417]
  • Graeber SY, Hug MJ, Sommerburg O, Hirtz S, Hentschel J, Heinzmann A, Dopfer C, Schulz A, Mainz JG, Tummler B, Mall MA: Intestinal Current Measurements Detect Activation of Mutant CFTR in Patients with Cystic Fibrosis with the G551D Mutation Treated with Ivacaftor. In: Am J Respir Crit Care Med 2015; 192(10): 1252-1255 [IF 12,996]
  • Evers C, Mitter D, Strobl-Wildemann G, Haug U, Hackmann K, Maas B, Janssen JW, Jauch A, Hinderhofer K, Moog U: Duplication Xp11.22-p14 in females: does X-inactivation help in assessing their significance? In: Am J Med Genet A 2015; 167(A): 553-562 [IF 2,159]
  • Carvill GL, McMahon JM, Schneider A, Zemel M, Myers CT, Saykally J, Nguyen J, Robbiano A, Zara F, Specchio N, Mecarelli O, Smith RL, Leventer RJ, Moller RS, Nikanorova M, Dimova P, Jordanova A, Petrou: Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. In: Am J Hum Genet 2015; 96(5): 808-815 [IF 10,931]

letzte Änderung: 26.07.2012

Kontakt

Institut für Humangenetik
Lemke, Johannes (Prof. Dr.)
Philipp-Rosenthal-Straße 55
04103 Leipzig
Telefon: +49 341 97-23800
Fax: +49 341 97-23809
E-Mail

Kontakt

Dezernat für Forschungs- und Transferservice
Ritterstraße 26
(3. Etage)
04109 Leipzig
Telefon: +49 341 97-35000
Telefax: +49 341 97-35009
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