Screening for mutations in selected miRNA genes in hypogonadotropic hypogonadism patients

by Anna-Pauliina Iivonen, Johanna Känsäkoski, Kirsi Vaaralahti, Taneli Raivio
Published 2019-04-01

Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations.

by Eeva-Maria Laitinen, Johanna Tommiska, Timo Sane, Kirsi Vaaralahti, Jorma Toppari, Taneli Raivio
Published 2012-01-01

GnRH receptor gene mutations in adolescents and young adults presenting with signs of partial gonadotropin deficiency.

by Johanna Hietamäki, Matti Hero, Elina Holopainen, Johanna Känsäkoski, Kirsi Vaaralahti, Anna-Pauliina Iivonen, Päivi J Miettinen, Taneli Raivio
Published 2017-01-01

Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis

by Johanna Tommiska, Johanna Känsäkoski, Lasse Skibsbye, Kirsi Vaaralahti, Xiaonan Liu, Emily J. Lodge, Chuyi Tang, Lei Yuan, Rainer Fagerholm, Jørgen K. Kanters, Päivi Lahermo, Mari Kaunisto, Riikka Keski-Filppula, Sanna Vuoristo, Kristiina Pulli, Tapani Ebeling, Leena Valanne, Eeva-Marja Sankila, Sirpa Kivirikko, Mitja Lääperi, Filippo Casoni, Paolo Giacobini, Franziska Phan-Hug, Tal Buki, Manuel Tena-Sempere, Nelly Pitteloud, Riitta Veijola, Marita Lipsanen-Nyman, Kari Kaunisto, Patrice Mollard, Cynthia L. Andoniadou, Joel A. Hirsch, Markku Varjosalo, Thomas Jespersen, Taneli Raivio
Published 2017-11-01