المؤلفون: Costantini, Alice, Alm, Jessica J., Tonelli, Francesca, Valta, Helena, Huber, Celine, Tran, Anh N., Daponte, Valentina, Kirova, Nadi, Kwon, Yong-Uk, Bae, Jung Yun, Chung, Woo Yeong, Tan, Shengjiang, Sznajer, Yves, Nishimura, Gen, Nareoja, Tuomas, Warren, Alan J., Cormier-Daire, Valerie, Kim, Ok-Hwa, Forlino, Antonella, Cho, Tae-Joon, Mäkitie, Outi

المساهمون: HUS Children and Adolescents, Children's Hospital, University of Helsinki, Helsinki University Hospital Area, Clinicum, Lastentautien yksikkö, CAMM - Research Program for Clinical and Molecular Metabolism, Research Programs Unit

مصطلحات موضوعية: CRISPR-CAS9, INCOMPLETE PENETRANCE, RIBOSOMOPATHY, RPL13, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, VARIABLE EXPRESSIVITY, ZEBRAFISH, WEB TOOL, MUTATIONS, SKELETAL, GENE, CHOPCHOP, ENCODES, 3121 General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

العلاقة: This study was financially supported by the Academy of Finland (277843), the Sigrid Juselius Foundation, the Folkhalsan Research Foundation, the Novo Nordisk Foundation (21322), the Swedish Research Council (2603, 2013), and the Stockholm County Council to OM. This research was also supported by a grant of the Italian Ministry of Education, University and Research (MIUR) under the initiative "Dipartimenti di Eccellenza (2018-2022)" to AF. The work was also supported by a Specialist Programme from Bloodwise (12048) and the UK Medical Research Council (MC_U105161083) to AJW, a Wellcome Trust strategic award to the Cambridge Institute for Medical Research (100140), a core support grant from the Wellcome Trust and MRC to the Wellcome Trust-Medical Research Council Cambridge Stem Cell Institute and the Cambridge National Institute for Health Research Biomedical Research Centre. JJA is supported by grants from The Finnish Cultural Foundation, HKH Princess Lovisa's foundation for child health care and Sallskapet Barnavard in Stockholm.; Costantini , A , Alm , J J , Tonelli , F , Valta , H , Huber , C , Tran , A N , Daponte , V , Kirova , N , Kwon , Y-U , Bae , J Y , Chung , W Y , Tan , S , Sznajer , Y , Nishimura , G , Nareoja , T , Warren , A J , Cormier-Daire , V , Kim , O-H , Forlino , A , Cho , T-J & Mäkitie , O 2021 , ' NovelRPL13Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia ' , Journal of Bone and Mineral Research , vol. 36 , no. 2 , pp. 283-297 . https://doi.org/10.1002/jbmr.4177Test; ORCID: /0000-0002-4547-001X/work/155651795; http://hdl.handle.net/10138/353233Test; 17112cdf-8886-4183-9cc6-48af01a5fc59; 000578753500001

الإتاحة: http://hdl.handle.net/10138/353233Test

المؤلفون: Rajala, Katri, Kasanen, Ellamaija, Toiviainen‐Salo, Sanna, Valta, Helena, Mäkitie, Outi, Stefanovic, Vedran, Tanner, Laura

المساهمون: Sigrid Juséliuksen Säätiö

المصدر: Prenatal Diagnosis ; volume 42, issue 12, page 1525-1537 ; ISSN 0197-3851 1097-0223

الإتاحة: https://doi.org/10.1002/pd.6186Test

المؤلفون: Costantini, Alice, Valta, Helena, Suomi, Anne-Maarit, Mäkitie, Outi, Taylan, Fulya

المساهمون: Tampere University, Seinäjoen keskussairaala VA

مصطلحات موضوعية: 318 Medical biotechnology

وصف الملف: fulltext

العلاقة: 680838; 12; PubMedCentral: PMC8206634; https://trepo.tuni.fi/handle/10024/145448Test; URN:NBN:fi:tuni-202301301860

الإتاحة: https://doi.org/10.3389/fgene.2021.680838Test
https://trepo.tuni.fi/handle/10024/145448Test

المؤلفون: Costantini, Alice, Alm, Jessica J, Tonelli, Francesca, Valta, Helena, Huber, Céline, Tran, Anh N, Daponte, Valentina, Kirova, Nadi, Kwon, Yong-Uk, Bae, Jung Yun, Chung, Woo Yeong, Tan, Shengjiang, Sznajer, Yves, Nishimura, Gen, Näreoja, Tuomas, Warren, Alan J, Cormier-Daire, Valérie, Kim, Ok-Hwa, Forlino, Antonella, Cho, Tae-Joon, Mäkitie, Outi

المساهمون: UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Centre de référence neuromusculaire, UCL - SSS/IREC/SLUC - Pôle St.-Luc

المصدر: Journal of bone and mineral research, Vol. 36, no. 2, p. 283-297 (2021)

مصطلحات موضوعية: Animals, Biological Variation, Population, Humans, Neoplasm Proteins, Osteochondrodysplasias, Pedigree, Ribosomal Proteins, Spine, Zebrafish, CRISPR-CAS9, RPL13, Incomplete penetrance, Ribosomopathy, Spondyloepimetaphyseal dysplasia, Variable expressivity

العلاقة: boreal:261829; http://hdl.handle.net/2078.1/261829Test; info:pmid/32916022; urn:ISSN:0884-0431; urn:EISSN:1523-4681

الإتاحة: https://doi.org/10.1002/jbmr.4177Test
http://hdl.handle.net/2078.1/261829Test

المؤلفون: Arponen, Heidi, Bachour, Adel, Bäck, Leif, Valta, Helena, Mäkitie, Antti, Mäkitie, Outi, Waltimo-Siren, Janna

المساهمون: HUS Head and Neck Center, Department of Oral and Maxillofacial Diseases, Clinicum, CAMM - Research Program for Clinical and Molecular Metabolism, Research Programs Unit, Faculty of Medicine, HUS Heart and Lung Center, Helsinki University Hospital Area, SLEEPWELL Research Program, Korva-, nenä- ja kurkkutautien klinikka, HUS Children and Adolescents, Children's Hospital, Lastentautien yksikkö, Janna C Waltimo-Siren / Principal Investigator, University of Helsinki

مصطلحات موضوعية: Osteogenesis imperfecta, Sleep apnea, Fatigue, Sleepiness, Depression, PAP therapy, Adherence, 3121 General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

العلاقة: This study was funded by grants (to HA) from Care4BrittleBones, (to OM) from Sigrid Juselius Foundation, the Finnish Foundation for Pediatric Research, the Academy of Finland, the Folkhalsan Research Foundation, and the Helsinki University Hospital Research Funds. The funders had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.; Arponen , H , Bachour , A , Bäck , L , Valta , H , Mäkitie , A , Mäkitie , O & Waltimo-Siren , J 2021 , ' Positive airway pressure therapy for obstructive sleep apnea in patients with Osteogenesis imperfecta : a prospective pilot study ' , BMC Musculoskeletal Disorders , vol. 22 , no. 1 , 61 . https://doi.org/10.1186/s12891-020-03932-9Test; ORCID: /0000-0002-7367-6613/work/90528352; ORCID: /0000-0003-0359-1486/work/104831014; ORCID: /0000-0002-4547-001X/work/155651963; http://hdl.handle.net/10138/327700Test; 9b30a422-45b5-4917-aae9-b405e214791d; 000609613100002

الإتاحة: http://hdl.handle.net/10138/327700Test

المؤلفون: ul Ain, Noor, Iqbal, Muddassar, Valta, Helena, Emerling, Christopher A., Ahmed, Sufian, Makitie, Outi, Naz, Sadaf

المساهمون: HUS Children and Adolescents, Children's Hospital, University of Helsinki, University Management, Lastentautien yksikkö, HUSLAB

مصطلحات موضوعية: Acromesomelic dysplasia, AMDM, NPR2, Skeletal dysplasia, Short stature, OF-FUNCTION MUTATION, B NPR2 GENE, HETEROZYGOUS MUTATIONS, DWARFISM, STATURE, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology

وصف الملف: application/pdf

العلاقة: We are grateful to all participants of the study for their cooperation. NA was supported by indigenous PhD fellowship and IRSIP fellowship from HEC, Islamabad, Pakistan. This research was funded by the Swedish Research Council (2013-2603), the Academy of Finland (277843), the Sigrid Juselius Foundation, the Folkhalsan Research Foundation, the Novo Nordisk Foundation (21322), the Stockholm County Council and Koshish Foundation, USA (SN); ul Ain , N , Iqbal , M , Valta , H , Emerling , C A , Ahmed , S , Makitie , O & Naz , S 2019 , ' Novel variants in natriuretic peptide receptor 2 in unrelated patients with acromesomelic dysplasia type Maroteaux ' , European Journal of Medical Genetics , vol. 62 , no. 9 , 103554 . https://doi.org/10.1016/j.ejmg.2018.10.006Test; ORCID: /0000-0002-4547-001X/work/155651840; http://hdl.handle.net/10138/313111Test; 5c5449e7-5de5-469b-81c7-2fe49eee985e; 000485618900011

الإتاحة: http://hdl.handle.net/10138/313111Test

المؤلفون: Costantini, Alice, Alm, Jessica J, Tonelli, Francesca, Valta, Helena, Huber, Céline, Tran, Anh N, Daponte, Valentina, Kirova, Nadi, Kwon, Yong-Uk, Bae, Jung Yun, Chung, Woo Yeong, Tan, Shengjiang, Sznajer, Yves, Nishimura, Gen, Näreoja, Tuomas, Warren, Alan J, Cormier-Daire, Valérie, Kim, Ok-Hwa, Forlino, Antonella, Cho, Tae-Joon, Mäkitie, Outi

المساهمون: Academy of Finland, Bloodwise, Folkhälsan Research Foundation, Grant of the Italian Ministry of Education, University and Research (MIUR) under the initiative "Dipartimenti di Eccellenza, HKH princess Lovisa's foundation for child health care, Novo Nordisk Fonden, Sällskapet Barnavård, Sigrid Juséliuksen Säätiö, Stockholms Läns Landsting, The Finnish Cultural Foundation, UK Medical Research Council, Vetenskapsrådet, Wellcome Trust strategic award to the Cambridge Institute for Medical Research, Finnish Cultural Foundation, Biomedical Research Centre, National Institute for Health Research, Ministry of Education, University and Research, Stockholm County Council, Swedish Research Council, Novo Nordisk Foundation, Sigrid Jusélius Foundation, Suomen Kulttuurirahasto, NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research, Ministero dell’Istruzione, dell’Università e della Ricerca

المصدر: Journal of Bone and Mineral Research ; volume 36, issue 2, page 283-297 ; ISSN 0884-0431 1523-4681

مصطلحات موضوعية: Orthopedics and Sports Medicine, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1002/jbmr.4177Test
https://academic.oup.com/jbmr/article-pdf/36/2/283/55459277/jbmr4177.pdfTest

المؤلفون: Costantini, Alice, Alm, Jessica J., Tonelli, Francesca, Valta, Helena, Huber, Céline, Tran, Anh N., Daponte, Valentina, Kirova, Nadi, Kwon, Yong-Uk, Bae, Jung Yun, Chung, Woo Yeong, Tan, Shengjiang, Sznajer, Yves, Nishimura, Gen, Näreoja, Tuomas, Warren, Alan J., Cormier-Daire, Valérie, Kim, Ok-Hwa, Forlino, Antonella, Cho, Tae-Joon, Mäkitie, Outi

المصدر: Bone Reports ; volume 13, page 100647 ; ISSN 2352-1872

مصطلحات موضوعية: Orthopedics and Sports Medicine, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.bonr.2020.100647Test
https://api.elsevier.com/content/article/PII:S2352187220304071?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2352187220304071?httpAccept=text/plainTest

المؤلفون: Laakso, Saila, Valta, Helena, Verkasalo, Matti, Toiviainen-Salo, Sanna-Maria, Viljakainen, Heli, Mäkitie, Outi

المساهمون: Clinicum, Children's Hospital, University of Helsinki, Department of Diagnostics and Therapeutics, Lastentautien yksikkö, HUS Children and Adolescents

مصطلحات موضوعية: Children, Adolescents, Ulcerative colitis, Crohn disease, Bone density, Fracture, Vitamin D deficiency, CROHNS-DISEASE, MINERAL DENSITY, BODY-COMPOSITION, VERTEBRAL FRACTURES, YOUNG-PATIENTS, ACTIVITY INDEX, GROWTH, HEIGHT, 3123 Gynaecology and paediatrics

وصف الملف: application/pdf

العلاقة: Laakso , S , Valta , H , Verkasalo , M , Toiviainen-Salo , S-M , Viljakainen , H & Mäkitie , O 2012 , ' Impaired Bone Health in Inflammatory Bowel Disease: A Case-Control Study in 80 Pediatric Patients ' , Calcified Tissue International , vol. 91 , no. 2 , pp. 121-130 . https://doi.org/10.1007/s00223-012-9617-2Test; ORCID: /0000-0002-7486-3437/work/34467549; ORCID: /0000-0002-4547-001X/work/155651779; http://hdl.handle.net/10138/297732Test; f6b3461b-a014-4653-a60a-da42134b8149; 84865974633; 000306438100003

الإتاحة: http://hdl.handle.net/10138/297732Test

المؤلفون: Laakso, Saila, Valta, Helena, Verkasalo, Matti, Toiviainen-Salo, Sanna, Makitie, Outi

المساهمون: Clinicum, Children's Hospital, Department of Diagnostics and Therapeutics, Lastentautien yksikkö, HUS Children and Adolescents

مصطلحات موضوعية: VERTEBRAL COMPRESSION FRACTURES, PEDIATRIC CROHNS-DISEASE, COLITIS ACTIVITY INDEX, MINERAL DENSITY, BODY-COMPOSITION, HIGH PREVALENCE, RISK-FACTORS, EARLY-ONSET, CHILDREN, GROWTH, 3123 Gynaecology and paediatrics

وصف الملف: application/pdf

العلاقة: Supported by the Sigrid Juselius Foundation, the Finnish Medical Foundation, the Finnish Foundation for Pediatric Research, the Academy of Finland, the Folkhalsan Research Foundation, and the Helsinki University Hospital Research Funds. The authors declare no conflicts of interest.; Laakso , S , Valta , H , Verkasalo , M , Toiviainen-Salo , S & Makitie , O 2014 , ' Compromised Peak Bone Mass in Patients with Inflammatory Bowel Disease-A Prospective Study ' , The Journal of Pediatrics , vol. 164 , no. 6 , pp. 1436-+ . https://doi.org/10.1016/j.jpeds.2014.01.073Test; ORCID: /0000-0002-4547-001X/work/155651872; http://hdl.handle.net/10138/291914Test; 04e97289-7389-4b0f-900f-adf60b9615d7; 84901504188; 000336503200040

الإتاحة: http://hdl.handle.net/10138/291914Test