Screening for mutations in selected miRNA genes in hypogonadotropic hypogonadism patients

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

Screening for germline KCNQ1 and KCNE2 mutations in a set of somatotropinoma patients

por Iivonen, Anna-Pauliina, Känsäkoski, Johanna, Karppinen, Atte, Kivipelto, Leena, Schalin-Jäntti, Camilla, Karhu, Auli, 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

The Role of KCNQ1 Mutations and Maternal Beta Blocker Use During Pregnancy in the Growth of Children With Long QT Syndrome

por Huttunen, Heta, Hero, Matti, Lääperi, Mitja, Känsäkoski, Johanna, Swan, Heikki, Hirsch, Joel A., Miettinen, Päivi J., Raivio, Taneli
Publicado 2018

MKRN3 Interacts With Several Proteins Implicated in Puberty Timing but Does Not Influence GNRH1 Expression

por Yellapragada, Venkatram, Liu, Xiaonan, Lund, Carina, Känsäkoski, Johanna, Pulli, Kristiina, Vuoristo, Sanna, Lundin, Karolina, Tuuri, Timo, Varjosalo, Markku, Raivio, Taneli
Publicado 2019

Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene

por Känsäkoski, Johanna, Jääskeläinen, Jarmo, Jääskeläinen, Tiina, Tommiska, Johanna, Saarinen, Lilli, Lehtonen, Rainer, Hautaniemi, Sampsa, Frilander, Mikko J., Palvimo, Jorma J., Toppari, Jorma, Raivio, Taneli
Publicado 2016

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

WDR11‐mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome

por Kim, Yeon‐Joo, Osborn, Daniel PS, Lee, Ji‐Young, Araki, Masatake, Araki, Kimi, Mohun, Timothy, Känsäkoski, Johanna, Brandstack, Nina, Kim, Hyun‐Taek, Miralles, Francesc, Kim, Cheol‐Hee, Brown, Nigel A, Kim, Hyung‐Goo, Martinez‐Barbera, Juan Pedro, Ataliotis, Paris, Raivio, Taneli, Layman, Lawrence C, Kim, Soo‐Hyun
Publicado 2017

Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients

por Tuupanen, Sari, Gall, Kimberly, Sistonen, Johanna, Saarinen, Inka, Kämpjärvi, Kati, Wells, Kirsty, Merkkiniemi, Katja, von Nandelstadh, Pernilla, Sarantaus, Laura, Känsäkoski, Johanna, Mårtenson, Emma, Västinsalo, Hanna, Schleit, Jennifer, Sankila, Eeva-Marja, Kere, Annakarin, Junnila, Heidi, Siivonen, Pauli, Andreevskaya, Margarita, Kytölä, Ville, Muona, Mikko, Salmenperä, Pertteli, Myllykangas, Samuel, Koskenvuo, Juha, Alastalo, Tero-Pekka
Publicado 2022

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