Search Results - "Valta, H"

PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants by Kämpe, A. J., Costantini, A., Mäkitie, R. E., Jäntti, N., Valta, H., Mäyränpää, M., Kröger, H., Pekkinen, M., Taylan, F., Jiao, H., Mäkitie, O.

“…Summary Altogether 95 children with primary bone fragility were screened for variants in PLS3 , the gene underlying X-linked osteoporosis. Two children with…”
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Low Copy Number of the AMY1 Locus Is Associated with Early-Onset Female Obesity in Finland by Viljakainen, Heli, Andersson-Assarsson, Johanna C, Armenio, Miriam, Pekkinen, Minna, Pettersson, Maria, Valta, Helena, Lipsanen-Nyman, Marita, Mäkitie, Outi, Lindstrand, Anna

“…The salivary α-amylase locus (AMY1) is located in a highly polymorphic multi allelic copy number variable chromosomal region. A recent report identified an…”
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Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults by Mäkitie, Riikka E, Haanpää, Maria, Valta, Helena, Pekkinen, Minna, Laine, Christine M, Lehesjoki, Anna‐Elina, Schalin‐Jäntti, Camilla, Mäkitie, Outi

“…ABSTRACT WNT proteins comprise a 19‐member glycoprotein family that act in several developmental and regenerative processes. In bone, WNT proteins regulate…”
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Cartilage‐hair hypoplasia with normal height in childhood—4 patients with a unique genotype by Klemetti, P., Valta, H., Kostjukovits, S., Taskinen, M., Toiviainen‐Salo, S., Mäkitie, O.

“…The manifestations of cartilage‐hair hypoplasia (CHH), a metaphyseal chondrodysplasia caused by RMRP mutations, include short stature, hypoplastic hair,…”
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Bone Characteristics and Their Determinants in Adolescents and Young Adults with Early-Onset Severe Obesity by Viljakainen, H. T., Valta, H., Lipsanen-Nyman, M., Saukkonen, T., Kajantie, E., Andersson, S., Mäkitie, O.

“…Childhood obesity is associated with compromised bone health. We studied bone characteristics and their determinants in obese young adults. The study included…”
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Impaired Bone Health in Adolescents After Liver Transplantation by Valta, H., Jalanko, H., Holmberg, C., Helenius, I., Mäkitie, O.

“…Long‐term complications related to immunosuppressive medication are an important problem after liver transplantation (OLT). This study was carried out to…”
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Body composition and adipokines in patients with juvenile idiopathic arthritis and systemic glucocorticoids by Markula-Patjas, K, Valta, H, Pekkinen, M, Andersson, S, Aalto, K, Lahdenne, P, Viljakainen, H, Mäkitie, O

“…The aim of this cross-sectional study was to explore body composition, and the relationship of serum adipokines with bone mass and disease activity, in a…”
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Hypercalciuria and kidney function in children with haemophilia by Ranta, S., Valta, H., Viljakainen, H., Mäkitie, O., Mäkipernaa, A.

“…Summary Adults with haemophilia have a higher incidence of chronic kidney disease than general male population. We recently showed that children with…”
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High prevalence of asymptomatic vertebral fractures in children after orthotopic liver transplantation by Valta, H, Jalanko, H, Holmberg, C, Mäkitie, O

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Scoliosis After Solid Organ Transplantation in Children and Adolescents by Helenius, I., Jalanko, H., Remes, V., Sairanen, H., Salminen, S., Holmberg, C., Palmu, P., Tervahartiala, P., Valta, H., Sarna, S., Helenius, M., Mäkitie, O., Peltonen, J.

“…The occurrence of scoliosis in children after solid organ transplantation is not known. A total of 196 children, which is 93% of patients surviving kidney,…”
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Bone densitometry in the diagnosis of vertebral fractures in children: Accuracy of instant vertebral assessment by Mäyränpää, M.K, Helenius, I, Valta, H, Mäyränpää, M.I, Toiviainen-Salo, S, Mäkitie, O

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Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort by Rajala, Katri, Kasanen, Ellamaija, Toiviainen‐Salo, Sanna, Valta, Helena, Mäkitie, Outi, Stefanovic, Vedran, Tanner, Laura

“…Objective This retrospective cohort study aims to describe the genetic spectrum of fetal skeletal dysplasias detected in a Finnish patient cohort and the…”
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Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss‐of‐Function Gα11 Mutation by Gorvin, Caroline M, Hannan, Fadil M, Cranston, Treena, Valta, Helena, Makitie, Outi, Schalin‐Jantti, Camilla, Thakker, Rajesh V

“…ABSTRACT G‐protein subunit α‐11 (Gα11) couples the calcium‐sensing receptor (CaSR) to phospholipase C (PLC)‐mediated intracellular calcium (Ca2+i) and…”
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Compromised Peak Bone Mass in Patients with Inflammatory Bowel Disease–A Prospective Study by Laakso, Saila, MD, PhD, Valta, Helena, MD, PhD, Verkasalo, Matti, MD, PhD, Toiviainen-Salo, Sanna, MD, PhD, Mäkitie, Outi, MD, PhD

“…Objective To evaluate peak bone mass attainment in children and adolescents with inflammatory bowel disease and to identify risk factors for suboptimal bone…”
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Bisphosphonate Treatment and the Characteristics of Femoral Fractures in Children With Osteogenesis Imperfecta by Vuorimies, Ilkka, Mäyränpää, Mervi K., Valta, Helena, Kröger, Heikki, Toiviainen-Salo, Sanna, Mäkitie, Outi

“…Abstract Context: The short-term benefits of bisphosphonates (BPs) are evident in the treatment of children with osteogenesis imperfecta (OI), but some…”
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Impaired Bone Health in Inflammatory Bowel Disease: A Case–Control Study in 80 Pediatric Patients by Laakso, Saila, Valta, Helena, Verkasalo, Matti, Toiviainen-Salo, Sanna, Viljakainen, Heli, Mäkitie, Outi

“…Previous studies have indicated that children with inflammatory bowel disease (IBD) may not achieve optimal bone mass. We evaluated the skeletal…”
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Timing of dental development in osteogenesis imperfecta patients with and without bisphosphonate treatment by Vuorimies, Ilkka, Arponen, Heidi, Valta, Helena, Tiesalo, Outi, Ekholm, Marja, Ranta, Helena, Evälahti, Marjut, Mäkitie, Outi, Waltimo-Sirén, Janna

“…Abstract Bisphosphonates have established their role as medical therapy for pediatric osteogenesis imperfecta (OI) patients. Since bisphosphonates have also…”
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Analysis of Clinical and Immunologic Phenotype in a Large Cohort of Children and Adults with Cartilage-hair Hypoplasia by Kostjukovits, Svetlana, MD, Klemetti, Paula, MD, PhD, Valta, Helena, MD, PhD, Martelius, Timi, MD, PhD, Notarangelo, Luigi D., MD, Seppänen, Mikko, MD, PhD, Taskinen, Mervi, MD, PhD, Mäkitie, Outi, MD, PhD

“…In our cohort of individuals with cartilage-hair hypoplasia 1) over 25% of patients manifest clinical combined immunodeficiency and they have lower CD3+, CD8+…”
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Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia by 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

“…ABSTRACT Spondyloepimetaphyseal dysplasias (SEMDs) are a heterogeneous group of disorders with variable growth failure and skeletal impairments affecting the…”
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Fatigue and disturbances of sleep in patients with osteogenesis imperfecta - a cross-sectional questionnaire study by Arponen, Heidi, Waltimo-Sirén, Janna, Valta, Helena, Mäkitie, Outi

“…Persisting fatigue has been reported to be a common complaint by individuals with connective tissue disorders, including Osteogenesis imperfecta (OI). This…”
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