Now showing items 1-5 of 5

    • Fatal Carney Complex in Siblings Due to De Novo Large Gene Deletion. 

      Stelmachowska-Banas, M; Zgliczynski, W; Tutka, P; Carney, JA; Korbonits, M (2017-11-01)
      Context: Carney complex (CNC) is a rare multiple neoplasia syndrome involving cardiac, endocrine, neural, and cutaneous tumors and a variety of pigmented skin lesions. CNC can be inherited as an autosomal dominant trait, ...
    • The genetic background of acromegaly. 

      Gadelha, MR; Kasuki, L; Korbonits, M (2017-02)
      Acromegaly is caused by a somatotropinoma in the vast majority of the cases. These are monoclonal tumors that can occur sporadically or rarely in a familial setting. In the last few years, novel familial syndromes have ...
    • Genetics of Pituitary Tumours. 

      Loughrey, PB; Korbonits, M (Springer Nature Switzerland AG, 2019-10-07)
      Pituitary tumours are relatively common in the general population. Most often they occur sporadically, with somatic mutations accounting for a significant minority of somatotroph and corticotroph adenomas. Pituitary tumours ...
    • Novel AIP mutation in exon 6 causing acromegaly in a German family. 

      Detomas, M; Altieri, B; Flitsch, J; Saeger, W; Korbonits, M; Deutschbein, T (2023-08)
      The most frequent genetic alteration of familial isolated growth hormone producing pituitary neuroendocrine tumors is a germline mutation of the aryl hydrocarbon receptor-interacting protein (AIP) gene. Various AIP mutations ...
    • Patient-reported outcomes of parenteral somatostatin analogue injections in 195 patients with acromegaly. 

      Strasburger, CJ; Karavitaki, N; Störmann, S; Trainer, PJ; Kreitschmann-Andermahr, I; Droste, M; Korbonits, M; Feldmann, B; Zopf, K; Sanderson, VF (2016-03)
      BACKGROUND: Long-acting somatostatin analogues delivered parenterally are the most widely used medical treatment in acromegaly. This patient-reported outcomes survey was designed to assess the impact of chronic injections ...