Craniofacial and dental features of Axenfeld‐Rieger syndrome patients with PITX2 mutations

Autor: Sirpa Arte, Minna Pöyhönen, Emmi Myllymäki, Elisa Ronkainen, David P. Rice, Pekka Nieminen

Publikováno v: Orthodontics & Craniofacial Research.

We aimed to characterize the genetic basis and craniofacial and dental features of Finnish patients with Axenfeld-Rieger syndrome (ARS).Mutational analyses of seven patients in five families were performed by sequencing or comparative genomic hybridi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94256aac06317aa1c213051d1ebb1d73
https://doi.org/10.1111/ocr.12631

Longterm Outcomes of Temporomandibular Joints in Juvenile Idiopathic Arthritis: 17 Years of Followup of a Nordic Juvenile Idiopathic Arthritis Cohort

Autor: Sirpa Arte, Thomas Klit Pedersen, Maria Ekelund, Paula Frid, A. Fasth, H Nilsson, Ellen Dalen Arnstad, Troels Herlin, Sven Kreiborg, Susan Nielsen, Peter Stoustrup, Peter Toftedal, Louise Hauge Matzen, Veronika Gjertsen Rypdal, Olafur Thorarensen, Marite Rygg, Kristiina Aalto, Ellen Nordal, Mia Glerup, Suvi Peltoniemi, Lillemor Berntson

Publikováno v: Journal of Rheumatology
Glerup, M, Stoustrup, P, Matzen, L H, Rypdal, V, Nordal, E, Frid, P, Arnstad, E D, Rygg, M, Thorarensen, O, Ekelund, M, Berntson, L, Fasth, A, Nilsson, H, Peltoniemi, S, Aalto, K, Arte, S, Toftedal, P, Nielsen, S, Herlin, T, Kreiborg, S & Pedersen, T K 2020, ' Long-term Outcomes of Temporomandibular Joints in Juvenile Idiopathic Arthritis : 17 Years of Followup of a Nordic Juvenile Idiopathic Arthritis Cohort ', Journal of Rheumatology, vol. 47, no. 5, 190231, pp. 730-738 . https://doi.org/10.3899/jrheum.190231

This is a pre-copyediting, author-produced PDF of an article accepted for publication in The Journal of Rheumatology following peer review. The definitive publisher-authenticated version Glerup, M., Stoustrup, P., Matzen, L.H., Rypdal, V., Nordal, E.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88ee2cd4966074fbd96c7a93109d9445
https://pubmed.ncbi.nlm.nih.gov/31523047

Craniofacial and Dental Features in Six Children With Cherubism

Autor: Patricia Stoor, Anni Suomalainen, w Kemola, Sirpa Arte

Publikováno v: The Journal of craniofacial surgery. 28(7)

Cherubism is an autosomal-dominant benign bone disorder, characterized by fibro-osseous lesions in the mandible and maxilla commonly caused by mutations in the SH3-binding protein 2-gene. The purpose of the authors' study was to analyze craniofacial

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1de305cfeaaeac8f6b8aa3158498f8f7
https://pubmed.ncbi.nlm.nih.gov/28857986

Predicting compliance for mandible advancement splint therapy in 96 obstructive sleep apnea patients

Autor: Adel Bachour, Antti Mäkitie, Tuula Ingman, Leif Bäck, Sirpa Arte

Publikováno v: The European Journal of Orthodontics. 35:752-757

SUMMARY The treatment of choice in obstructive sleep apnea (OSA) is continuous positive airway pressure (CPAP). Mandible advancement splint (MAS) offers an option for patients with mild or moderate OSA, who refuse or are unable to tolerate CPAP. The

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faa0baf29e648ce44372d44077a32864
https://doi.org/10.1093/ejo/cjs092

Premolar hypodontia is a common feature in Sotos syndrome with a mutation in theNSD1gene

Autor: Pia Pohjola, Sinikka Pirinen, Johanna Kotilainen, Sirpa Arte, Pekka Nieminen

Publikováno v: American Journal of Medical Genetics Part A. :2409-2414

The major diagnostic manifestations in Sotos syndrome include frontal bossing, downward slanting palpebral fissures, a prominent jaw, learning disability, and childhood overgrowth. Over 90% of clinically diagnosed patients have an abnormality in the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6a6e732eed6c57ffe0d884e647cface
https://doi.org/10.1002/ajmg.a.33062