Institut für Humangenetik

 

  • 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
  • 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.
  • 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.
  • 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.
  • 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.
  • 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

 

 

Number of publications per year (1994-2016)

Statistik Institut






Kontakt

Für Patienten und Ratsuchende
Zentrum für ambulante Medizin
Carl Zeiß-Platz 8
07743 Jena

Tel. 03641-934924
Fax. 03641-934925

Für Studierende und Gäste

Institut für Humangenetik
Haus F2
Am Klinikum 1
07747 Jena

Tel. 03641-9-396801
Fax. 03641-9-396802

postalische Adresse
Postfach 07740 Jena

Leiter
Prof. Dr. Christian Hübner


Zertifikate

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