Screening for mutations in selected miRNA genes in hypogonadotropic hypogonadism patients

por Iivonen, Anna-Pauliina, Känsäkoski, Johanna, Vaaralahti, Kirsi, Raivio, Taneli
Publicado 2019

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

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

FGF8–FGFR1 signaling regulates human GnRH neuron differentiation in a time- and dose-dependent manner

por Yellapragada, Venkatram, Eskici, Nazli, Wang, Yafei, Madhusudan, Shrinidhi, Vaaralahti, Kirsi, Tuuri, Timo, Raivio, Taneli
Publicado 2022

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

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

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

por Iivonen, Anna-Pauliina, Kärkinen, Juho, Yellapragada, Venkatram, Sidoroff, Virpi, Almusa, Henrikki, Vaaralahti, Kirsi, Raivio, Taneli
Publicado 2021

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

por Kohva, Ella, Huopio, Hanna, Hero, Matti, Miettinen, Päivi J, Vaaralahti, Kirsi, Sidoroff, Virpi, Toppari, Jorma, Raivio, Taneli
Publicado 2018

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

por Hietamäki, Johanna, Hero, Matti, Holopainen, Elina, Känsäkoski, Johanna, Vaaralahti, Kirsi, Iivonen, Anna-Pauliina, Miettinen, Päivi J., Raivio, Taneli
Publicado 2017

Circulating Liver-enriched Antimicrobial Peptide-2 Decreases During Male Puberty

por Varimo, Tero, Miettinen, Päivi J, Vaaralahti, Kirsi, Toppari, Jorma, Huopio, Hanna, Voutilainen, Raimo, Tenhola, Sirpa, Hero, Matti, Raivio, Taneli
Publicado 2022

Presentation and diagnosis of childhood-onset combined pituitary hormone deficiency: A single center experience from over 30 years

por Hietamäki, Johanna, Kärkinen, Juho, Iivonen, Anna-Pauliina, Vaaralahti, Kirsi, Tarkkanen, Annika, Almusa, Henrikki, Huopio, Hanna, Hero, Matti, Miettinen, Päivi J., Raivio, Taneli
Publicado 2022

Deciphering the Transcriptional Landscape of Human Pluripotent Stem Cell-Derived GnRH Neurons: The Role of Wnt Signaling in Patterning the Neural Fate

por Wang, Yafei, Madhusudan, Shrinidhi, Cotellessa, Ludovica, Kvist, Jouni, Eskici, Nazli, Yellapragada, Venkatram, Pulli, Kristiina, Lund, Carina, Vaaralahti, Kirsi, Tuuri, Timo, Giacobini, Paolo, Raivio, Taneli
Publicado 2022

Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism

por 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
Publicado 2020

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

por 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
Publicado 2017