Screening for mutations in selected miRNA genes in hypogonadotropic hypogonadism patients

ανά Iivonen, Anna-Pauliina, Känsäkoski, Johanna, Vaaralahti, Kirsi, Raivio, Taneli
Τόπος έκδοσης Endocr Connect (2019)

Reversible Congenital Hypogonadotropic Hypogonadism in Patients with CHD7, FGFR1 or GNRHR Mutations

ανά Laitinen, Eeva-Maria, Tommiska, Johanna, Sane, Timo, Vaaralahti, Kirsi, Toppari, Jorma, Raivio, Taneli
Έκδοση 2012

Incidence, Phenotypic Features and Molecular Genetics of Kallmann Syndrome in Finland

ανά Laitinen, Eeva-Maria, Vaaralahti, Kirsi, Tommiska, Johanna, Eklund, Elina, Tervaniemi, Mari, Valanne, Leena, Raivio, Taneli
Έκδοση 2011

Kallmann syndrome in a patient with Weiss–Kruszka syndrome and a de novo deletion in 9q31.2

ανά Iivonen, Anna-Pauliina, Kärkinen, Juho, Yellapragada, Venkatram, Sidoroff, Virpi, Almusa, Henrikki, Vaaralahti, Kirsi, Raivio, Taneli
Τόπος έκδοσης Eur J Endocrinol (2021)

Recombinant Human FSH Treatment Outcomes in Five Boys With Severe Congenital Hypogonadotropic Hypogonadism

ανά Kohva, Ella, Huopio, Hanna, Hero, Matti, Miettinen, Päivi J, Vaaralahti, Kirsi, Sidoroff, Virpi, Toppari, Jorma, Raivio, Taneli
Τόπος έκδοσης J Endocr Soc (2018)

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

ανά Hietamäki, Johanna, Hero, Matti, Holopainen, Elina, Känsäkoski, Johanna, Vaaralahti, Kirsi, Iivonen, Anna-Pauliina, Miettinen, Päivi J., Raivio, Taneli
Τόπος έκδοσης PLoS One (2017)

Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism

ανά Hietamäki, Johanna, Gregory, Louise C, Ayoub, Sandy, Iivonen, Anna-Pauliina, Vaaralahti, Kirsi, Liu, Xiaonan, Brandstack, Nina, Buckton, Andrew J, Laine, Tiina, Känsäkoski, Johanna, Hero, Matti, Miettinen, Päivi J, Varjosalo, Markku, Wakeling, Emma, Dattani, Mehul T, Raivio, Taneli
Τόπος έκδοσης J Clin Endocrinol Metab (2020)

Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism

ανά Messina, Andrea, Pulli, Kristiina, Santini, Sara, Acierno, James, Känsäkoski, Johanna, Cassatella, Daniele, Xu, Cheng, Casoni, Filippo, Malone, Samuel A., Ternier, Gaetan, Conte, Daniele, Sidis, Yisrael, Tommiska, Johanna, Vaaralahti, Kirsi, Dwyer, Andrew, Gothilf, Yoav, Merlo, Giorgio R., Santoni, Federico, Niederländer, Nicolas J., Giacobini, Paolo, Raivio, Taneli, Pitteloud, Nelly
Τόπος έκδοσης Am J Hum Genet (2020)

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

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