Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Kirsi Vaaralahti"'
Autor:
Tero, Varimo, Anna-Pauliina, Iivonen, Johanna, Känsäkoski, Karoliina, Wehkalampi, Matti, Hero, Kirsi, Vaaralahti, Päivi J, Miettinen, Marek, Niedziela, Taneli, Raivio
Publikováno v:
Pediatric research. 90(2)
Paternally inherited loss-of-function mutations in MKRN3 underlie central precocious puberty (CPP). We describe clinical and genetic features of CPP patients with paternally inherited MKRN3 mutations in two independent families.The single coding exon
Autor:
Päivi J. Miettinen, Kirsi Vaaralahti, Janne T. Backman, H. Huopio, Jorma Toppari, Sirpa Tenhola, Tero Varimo, Raimo Voutilainen, Ella Kohva, Jenni Viinamäki, Taneli Raivio, Matti Hero
Publikováno v:
Human Reproduction (Oxford, England)
STUDY QUESTIONDoes treatment of constitutional delay of growth and puberty (CDGP) in boys with aromatase inhibitor letrozole (Lz) or conventional low-dose testosterone (T) have differing effects on developing seminiferous epithelium?SUMMARY ANSWERAnt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc1768ab9cfa93b0482389b57313f14c
http://hdl.handle.net/10138/314417
http://hdl.handle.net/10138/314417
Autor:
Johanna Känsäkoski, Sandy Ayoub, Tiina Laine, Päivi J. Miettinen, Anna-Pauliina Iivonen, Johanna Hietamäki, Xiaonan Liu, Emma Wakeling, Louise C. Gregory, Matti Hero, Mehul T. Dattani, Nina Brandstack, Andrew J Buckton, Kirsi Vaaralahti, Markku Varjosalo, Taneli Raivio
Publikováno v:
The Journal of Clinical Endocrinology and Metabolism
Context Congenital pituitary hormone deficiencies with syndromic phenotypes and/or familial occurrence suggest genetic hypopituitarism; however, in many such patients the underlying molecular basis of the disease remains unknown. Objective To describ
Publikováno v:
European Journal of Endocrinology. 174:785-790
ObjectiveMakorin ring finger protein 3 (MKRN3) gene restrains the hypothalamic–pituitary–gonadal axis. In girls, peripheral levels of MKRN3 decline prior to the onset of puberty. We described longitudinal changes in serum MKRN3 levels in boys bef
Autor:
Filippo Casoni, Paolo Giacobini, Päivi Lahermo, Eeva-Marja Sankila, Johanna Känsäkoski, Marita Lipsanen-Nyman, Emily J Lodge, Riikka Keski-Filppula, Kari Kaunisto, Xiaonan Liu, Jørgen K. Kanters, Kristiina Pulli, Tal Buki, Mitja Lääperi, Johanna Tommiska, Riitta Veijola, Mari A. Kaunisto, Joel A. Hirsch, Lei Yuan, Sirpa Kivirikko, Tapani Ebeling, Patrice Mollard, Franziska Phan-Hug, Lasse Skibsbye, Sanna Vuoristo, Kirsi Vaaralahti, Taneli Raivio, Cynthia L. Andoniadou, Manuel Tena-Sempere, Thomas Jespersen, Nelly Pitteloud, Chuyi Tang, Rainer Fagerholm, Leena Valanne, Markku Varjosalo
Publikováno v:
Nature Communications
Tommiska, J, Känsäkoski, J, Skibsbye, L, Vaaralahti, K, Liu, X, Lodge, E J, Tang, C, Yuan, L, Fagerholm, R, Kanters, J K, Lahermo, P, Kaunisto, M, Keski-Filppula, R, Vuoristo, S, Pulli, K, Ebeling, T, Valanne, L, Sankila, E-M, Kivirikko, S, Lääperi, M, Casoni, F, Giacobini, P, Phan-Hug, F, Buki, T, Tena-Sempere, M, Pitteloud, N, Veijola, R, Lipsanen-Nyman, M, Kaunisto, K, Mollard, P, Andoniadou, C L, Hirsch, J A, Varjosalo, M, Jespersen, T & Raivio, T 2017, ' Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis ', Nature Communications, vol. 8, no. 1, 1289 . https://doi.org/10.1038/s41467-017-01429-z
Nature Communications, Vol 8, Iss 1, Pp 1-11 (2017)
Nature communications, vol. 8, no. 1, pp. 1289
Tommiska, J, Känsäkoski, J, Skibsbye, L, Vaaralahti, K, Liu, X, Lodge, E J, Tang, C, Yuan, L, Fagerholm, R, Kanters, J K, Lahermo, P, Kaunisto, M, Keski-Filppula, R, Vuoristo, S, Pulli, K, Ebeling, T, Valanne, L, Sankila, E-M, Kivirikko, S, Lääperi, M, Casoni, F, Giacobini, P, Phan-Hug, F, Buki, T, Tena-Sempere, M, Pitteloud, N, Veijola, R, Lipsanen-Nyman, M, Kaunisto, K, Mollard, P, Andoniadou, C L, Hirsch, J A, Varjosalo, M, Jespersen, T & Raivio, T 2017, ' Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis ', Nature Communications, vol. 8, no. 1, 1289 . https://doi.org/10.1038/s41467-017-01429-z
Nature Communications, Vol 8, Iss 1, Pp 1-11 (2017)
Nature communications, vol. 8, no. 1, pp. 1289
Familial growth hormone deficiency provides an opportunity to identify new genetic causes of short stature. Here we combine linkage analysis with whole-genome resequencing in patients with growth hormone deficiency and maternally inherited gingival f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91f65b757cd3eec6b9407f896b92ee41
http://urn.fi/urn:nbn:fi-fe2019081223873
http://urn.fi/urn:nbn:fi-fe2019081223873
Autor:
Jouni Lauronen, Hanna Lampela, Markku J. Nissinen, Hannu Jalanko, Tatu A. Miettinen, Mikko P. Pakarinen, Heikki Mäkisalo, Kirsi Vaaralahti, Helena Gylling, Silja Kosola, Taneli Raivio
Publikováno v:
American Journal of Transplantation. 12:2815-2824
Liver transplantation (LT) predisposes to metabolic derangements and increases the risk for cardiovascular disease. We conducted a national cross-sectional study of all pediatric recipients who underwent LT between 1987 and 2007. We measured serum le
Autor:
Johanna Tommiska, Eeva-Maria Laitinen, Karoliina Wehkalampi, Taneli Raivio, Kirsi Vaaralahti, Leo Dunkel
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 95:3063-3066
Background: Recently variation in LIN28B, a human ortholog of the gene-regulating processing of micro-RNAs (miRNAs) controlling the timing of major developmental events in the nematode Caenorhabtidis elegans, was reported to be associated with timing
Publikováno v:
Clinical endocrinology. 75(1)