Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Mervi K. Mäyränpää"'
Autor:
Mervi K. Mäyränpää, Fulya Taylan, Riikka E. Mäkitie, Alice Costantini, Anders Kämpe, Hong Jiao, Helena Valta, Minna Pekkinen, Heikki Kröger, Outi Mäkitie, Nina Jäntti
Publikováno v:
Osteoporosis International
Summary Altogether 95 children with primary bone fragility were screened for variants in PLS3, the gene underlying X-linked osteoporosis. Two children with multiple peripheral and spinal fractures and low BMD had novel disease-causing PLS3 variants.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e53a0a162abf50a52d94eaf6fedaab8
http://europepmc.org/articles/PMC5624974
http://europepmc.org/articles/PMC5624974
Autor:
Heikki Kröger, Sanna Toiviainen-Salo, Minna Pekkinen, Outi Mäkitie, Maija Wessman, Mervi K Mäyränpää, Anna-Elina Lehesjoki, Matti Välimäki, Ville-Valtteri Välimäki, Christine M. Laine, Mari A. Kaunisto, Tero Laine
Publikováno v:
Journal of Bone and Mineral Research. 30:510-518
Genetic factors play an important role in the development of osteoporosis. Several monogenic forms of osteoporosis have been recognized, most recently an X-chromosomal form resulting from mutations in the gene encoding plastin 3 (PLS3). PLS3 is a pro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5b6d8443c348fbff6440724bc3af6041
https://doi.org/10.1002/jbmr.2355
https://doi.org/10.1002/jbmr.2355
Autor:
Outi Mäkitie, Sanna Toiviainen-Salo, Pentti Kallio, Ilkka Vuorimies, Mervi K. Mäyränpää, Hilkka Ryhanen
Publikováno v:
Bone Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fc54314fa6459fa505e5028774a54b90
https://doi.org/10.1530/boneabs.6.p103
https://doi.org/10.1530/boneabs.6.p103
Autor:
Paul Roschger, Mervi K Mäyränpää, Barbara M. Misof, Heikki Kröger, Outi Mäkitie, Hanna Isaksson, Inari S. Tamminen, Klaus Klaushofer, Mikael J. Turunen
Publikováno v:
Journal of Bone and Mineral Research. 29:1110-1117
Idiopathic osteoporosis (IOP) in children is characterized by fragility fractures and/or low bone mineral density in otherwise healthy individuals. The aim of the present work was to measure bone mineralization density distribution (BMDD) based on qu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4b6fe4b4ed4f5aae918de046d8e80733
https://doi.org/10.1002/jbmr.2124
https://doi.org/10.1002/jbmr.2124
Autor:
Helena Valta, Inari S. Tamminen, Outi Mäkitie, Hanna Isaksson, Mervi K Mäyränpää, Hannu Jalanko, Heikki Kröger, Sari Salminen
Publikováno v:
Pediatric Nephrology. 29:1431-1440
Organ transplantation may lead to secondary osteoporosis in children. This study characterized bone histomorphometric findings in pediatric solid organ transplant recipients who were assessed for suspected secondary osteoporosis. Iliac crest biopsies
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64445f6b2d1e74b93ac271fcbb55ece4
https://doi.org/10.1007/s00467-014-2771-1
https://doi.org/10.1007/s00467-014-2771-1
Autor:
Fulya Taylan, Hong Jiao, Christian Netzer, Jutta Becker, Riikka E. Mäkitie, Minna Pekkinen, Outi Mäkitie, Anders Kämpe, Helena Valta, Alice Costantini, Ilkka Vuorimies, Mervi K. Mäyränpää
Publikováno v:
American journal of medical genetics. Part A. 173(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddb6855b23bf9694fd90151c952d74fc
https://pubmed.ncbi.nlm.nih.gov/27901313
https://pubmed.ncbi.nlm.nih.gov/27901313
Publikováno v:
Journal of Bone and Mineral Research. 27:1413-1424
Frequent fractures in children may be a sign of impaired bone health, but it remains unestablished when and how fracture-prone children should be assessed. This prospective study elucidated skeletal characteristics and predisposing factors in childre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbb7e2bb35fafba24657f24d7781d590
https://doi.org/10.1002/jbmr.1579
https://doi.org/10.1002/jbmr.1579
Autor:
Riitta Karikoski, Mervi K. Mäyränpää, Outi Mäkitie, Anne Saarinen, Tarja Linnankivi, Sanna Toiviainen-Salo
Publikováno v:
American Journal of Medical Genetics Part A. 155:1322-1328
Cerebral cysts and calcifications with leukoencephalopathy and retinal vascular abnormalities are diagnostic hallmarks of cerebroretinal microangiopathy with calcifications and cysts (CRMCC). Previous studies have suggested that skeletal involvement
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03250b93e4f2ddf3a71a4c0fb18a38af
https://doi.org/10.1002/ajmg.a.33994
https://doi.org/10.1002/ajmg.a.33994
Publikováno v:
Journal of Bone and Mineral Research. 25:2752-2759
Fractures are common in children, and some studies suggest an increasing incidence. Data on population-based long-term trends are scarce. In order to establish fracture incidence and epidemiologic patterns, we carried out a population-based study in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9b3b191e5bfdb7c3c9aa09b9aecc7b2d
https://doi.org/10.1002/jbmr.155
https://doi.org/10.1002/jbmr.155