Results 61 to 70 of about 4,008 (210)

Immunocytochemical detection of dentin matrix proteins in primary teeth from patients with dentinogenesis imperfecta associated with osteogenesis imperfecta

European Journal of Histochemistry, 2014
Dentinogenesis imperfecta determines structural alterations of the collagen structure still not completely elucidated. Immunohistochemical analysis was used to assay Type I and VI collagen, various non-collagenous proteins distribution in human primary ...
G. Orsini, A. Majorana, A. Mazzoni, A. Putignano, M. Falconi, A. Polimeni, L. Breschi   +6 more
doaj   +1 more source

Exclusion of known gene for enamel development in two Brazilian families with amelogenesis imperfecta [PDF]

, 2007
Amelogenesis imperfecta (AI) is a genetically heterogeneous group of diseases that result in defective development of tooth enamel. Mutations in several enamel proteins and proteinases have been associated with AI.
Maria CLG Santos, P Suzanne Hart, Mukundhan Ramaswami, Cláudia M Kanno, Thomas C Hart, Sergio RP Line, MH Rajpar, JT Wright, M Nusier, CJ Witkop, PS Hart, A Chosack, C Witkop, S Sundell, JP Simmer, JD Bartlett, AG Fincham, AG Fincham, PS Hart, MJ Aldred, NJ Lench, SA Kindelan, DB Ravassipour, MJ Aldred, SR Greene, CK Mardh, M Kida, ML Paine, S Fukumoto, K Iwasaki, P Moffatt, M Fukae, JD Bartlett, OH Ryu, H Palosaari, O Ryu, BR DuPont, D Ozdemir, PS Hart, PM Collier, M MacDougall, D Deutsch, H Vieira, T Lukusa, GW Zhang, PS Hart, JW Kim, G Mendoza   +47 more
core   +2 more sources

Clinical Features of Osteogenesis Imperfecta in Taiwan

Journal of the Formosan Medical Association, 2009
Osteogenesis imperfecta (OI) (MIM 166200, 166210, 259420 and 166220) is a congenital disorder characterized by increased bone fragility and low bone mass. Information regarding the clinical features of this genetic disorder is lacking in Taiwan.
Hsiang-Yu Lin, Shuan-Pei Lin, Chih-Kuang Chuang, Ming-Ren Chen, Chia-Ying Chang, Dau-Ming Niu   +5 more
doaj   +1 more source

Expanding the Clinical Spectrum of Bruck Syndrome: A Case Report and Literature Review

Case Reports in Pediatrics, Volume 2026, Issue 1, 2026.
Background Bruck syndrome is a rare autosomal recessive disorder characterized by osteogenesis imperfecta–like bone fragility and congenital joint contractures. Clinical overlap with other connective tissue disorders makes early diagnosis challenging, and genetic testing remains essential.
Ansam Nafah, May Shihab, Reem Shihab, Lana M. Dweekat, Hala O. Abdallah, Andrea Scaramuzza   +5 more
wiley   +1 more source

Recent Developments in Osteogenesis Imperfecta [PDF]

, 2015
Osteogenesis imperfecta (OI) is an uncommon genetic bone disease associated with brittle bones and fractures in children and adults. Although OI is most commonly associated with mutations of the genes for type I collagen, many other genes (some ...
Albert, Carolyne, Fritz, Jessica M., Harris, Gerald F., Shaker, Joseph L.   +3 more
core   +2 more sources

Clinical and Molecular Heterogeneity Underlying Monogenic Causes of Pediatric Diabetes Associated to Brain Developmental Disorders

Clinical Genetics, Volume 108, Issue 5, Page 495-510, November 2025.
A growing number of genetic variants linking non‐autoimmune diabetes to NDDs across different ages offer key insights about a common background of these phenotypes. These findings call for multidisciplinary approaches to care that integrate metabolic and neurological management in affected children.
Gabriele Di Pasquale, Camilla Valsecchi, Giulia Marie Smylie, Vincenzo Salpietro, Gian Vincenzo Zuccotti, Maurizio Delvecchio, Chiara Mameli   +6 more
wiley   +1 more source

Dental Hard Tissue Study In A Hereditary Dentinogenesis Imperfecta Family

International Dental Journal
Aim or purpose: Hereditary dentinogenesis imperfecta is a rare autosomal dominant genetic disorder characterized by abnormal dentin structure, leading to impaired dental function and aesthetics.
Zhongren Deng, Yue Ning, Qin Du
doaj   +1 more source

A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly

Genes and Diseases, 2019
Osteogenesis imperfecta (OI) is mainly characterized by bone fragility and Ehlers-Danlos syndrome (EDS) by connective tissue defects. Mutations in COL1A1 or COL1A2 can lead to both syndromes.
Thunyaporn Budsamongkol, Narin Intarak, Thanakorn Theerapanon, Somchai Yodsanga, Thantrira Porntaveetus, Vorasuk Shotelersuk   +5 more
doaj   +1 more source

ISOLATED DENTINOGENESIS IMPERFECTA AND IN ASSOCIATION WITH OSTEOGENESIS IMPERFECTA – A LITERATURE REVIEW [PDF]

Romanian Medical Journal, 2018
Dental development is part of the craniofacial organogenesis, starting from the pluripotent cephalic neural crest cells, continuing with their movement towards the first pharyngeal arch and leading to the development of many elements of the ...
Andrei Kozma, Doriana Agop Forna, Viorica Radoi, Ana Maria Alexandra Stanescu, Radu Ursu, Laurentiu Camil Bohaltea   +5 more
doaj   +1 more source

Pediatric Scoliosis in Osteogenesis Imperfecta: From Genetic Mechanisms to Therapeutic Strategies

Orthopaedic Surgery, Volume 17, Issue 11, Page 3036-3047, November 2025.
This review explores the genetic underpinnings and treatment strategies for spinal deformities in children with osteogenesis imperfecta. Emphasis is placed on emerging molecular insights and modern surgical techniques that improve the management of severe scoliosis and enhance patient outcomes.
Vladislav Muldiiarov, Keely Buesing, Maegen J. Wallace   +2 more
wiley   +1 more source