Works matching DE "OSTEOGENESIS imperfecta"

Results: 1499

The case study: its place in personality research.

Published in:

1952

By:

Bindra, Dalbir

Publication type:

Journal Article

Example of Intrafamilial Clinical Polymorphism in a Family with Osteogenesis Imperfecta.

Published in:

Genes, 2025, v. 16, n. 5, p. 475, doi. 10.3390/genes16050475

By:

Galkina, Varvara A.;
Vasilyeva, Tatyana A.;
Tebieva, Inna S.;
Getoeva, Zolina K.;
Marakhonov, Andrey V.;
Kadyshev, Vitaly V.;
Kutsev, Sergey I.;
Zinchenko, Rena A.

Publication type:

Article

Non-invasive quantification of bone (re)modeling dynamics in adults with osteogenesis imperfecta treated with setrusumab using timelapse high-resolution peripheral-quantitative computed tomography.

Published in:

Journal of Bone & Mineral Research, 2025, v. 40, n. 3, p. 348, doi. 10.1093/jbmr/zjaf013

By:

Hosseinitabatabaei, Seyedmahdi;
Vitienes, Isabela;
Rummler, Maximillian;
Birkhold, Annette;
Rauch, Frank;
Willie, Bettina M

Publication type:

Article

Cardiovascular disease in adults with osteogenesis imperfecta: clinical characteristics, care recommendations, and research priorities identified using a modified Delphi technique.

Published in:

Journal of Bone & Mineral Research, 2025, v. 40, n. 2, p. 211, doi. 10.1093/jbmr/zjae197

By:

Folkestad, Lars;
Prakash, Siddharth K;
Nagamani, Sandesh C S;
Andersen, Niels Holmark;
Carter, Erin;
Hald, Jannie Dahl;
Johnson, Riley J;
Langdahl, Bente;
Perfetto, Eleanor M;
Raggio, Cathleen;
Ralston, Stuart H;
Sandhaus, Robert A;
Semler, Oliver;
Tosi, Laura;
Orwoll, Eric

Publication type:

Article

A new Col1a1 conditional knock-in mouse model to study osteogenesis imperfecta.

Published in:

Journal of Bone & Mineral Research, 2025, v. 40, n. 1, p. 114, doi. 10.1093/jbmr/zjae189

By:

Dimori, Milena;
Toulany, Mahtab;
Sultana, Lira Samia;
Onal, Melda;
Thostenson, Jeff D;
Carroll, John L;
O'Brien, Charles A;
Morello, Roy

Publication type:

Article

Joint hypermobility.

Published in:

Musculoskeletal Care, 2007, v. 5, n. 1, p. 4, doi. 10.1002/msc.91

By:

Bird, Howard A.

Publication type:

Article

Cephalometric evaluation of the pharyngeal airway space after orthognathic surgery and distraction osteogenesis of the jaw bones.

Published in:

Indian Journal of Plastic Surgery, 2014, v. 47, n. 3, p. 346, doi. 10.4103/0970-0358.146589

By:

Sriram, S. Ganapathy;
Andrade, Neelam N.

Publication type:

Article

Subarachnoid Hemorrhage Secondary to Aneurysm Rupture in a Patient with Osteogenesis Imperfecta with COL1A1 Mutation.

Published in:

2025

By:

Vyas, Medha A;
Jain, Shrey;
Sinha, Ajit K.

Publication type:

Letter

Only got five minutes? Then read these key points first.

Published in:: Practitioner, 2022, v. 266, n. 1855, p. 2
Publication type:: Article

Diagnosis and management of osteogenesis imperfecta.

Published in:

Practitioner, 2022, v. 266, n. 1855, p. 11

By:

Ralston, Stuart H.

Publication type:

Article

Exome sequencing identified mutations in the WNT1 and COL1A2 genes in osteogenesis imperfecta cases.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09326-7

By:

Mehta, Poonam;
Vishvkarma, Rahul;
Gupta, Sushil;
Chattopadhyay, Naibedya;
Rajender, Singh

Publication type:

Article

TBS as a complementary tool for assessing vertebral fractures and spinal deformity in children and adolescents with osteogenesis imperfecta.

Published in:

Osteoporosis International, 2025, v. 36, n. 4, p. 725, doi. 10.1007/s00198-025-07423-2

By:

Liu, Jiayi;
Zhang, Yi;
Yu, Wei;
Sun, Lei;
Hu, Jing;
Jiang, Yan;
Wang, Ou;
Xing, Xiaoping;
Xia, Weibo;
Li, Mei

Publication type:

Article

Identifying rare variants in genes related to bone phenotypes in a cohort of postmenopausal women.

Published in:

Osteoporosis International, 2025, v. 36, n. 4, p. 637, doi. 10.1007/s00198-025-07413-4

By:

Patiño-Salazar, J. D.;
Ovejero, D.;
Gabernet, M.;
Martínez-Gil, N.;
Alcaide-Consuegra, E.;
Mellibovsky, L.;
Nogués, X.;
Grinberg, D.;
Balcells, S.;
Rabionet, R.;
Garcia-Giralt, N.

Publication type:

Article

Beneficial effects of romosozumab on bone mineral density and trabecular bone score assessed by dual-energy X-ray absorptiometry in a family with osteogenesis imperfecta.

Published in:

2024

By:

Kusakabe, Toru;
Ishihara, Yuki;
Kitamura, Takuya;
Yasoda, Akihiro;
Nanba, Kazutaka;
Tsuiki, Mika;
Satoh-Asahara, Noriko;
Tagami, Tetsuya

Publication type:

Letter

Demographics and medical burden of osteogenesis imperfecta: a nationwide database analysis.

Published in:

Osteoporosis International, 2024, v. 35, n. 7, p. 1185, doi. 10.1007/s00198-024-07051-2

By:

Shih, Chien-An;
Li, Chia-Chun;
Chang, Yin-Fan;
Hwang, Jawl-Shan;
Tsai, Meng-Che;
Chou, Yen-Yin;
Lin, Chii-Jeng;
Huang, Ming-Tung;
Hong, Chih-Kai;
Tai, Ta-Wei;
Wu, Chih-Hsing

Publication type:

Article

Exploratory use of romosozumab for osteoporosis in a patient with Hajdu–Cheney syndrome: a case report.

Published in:

Osteoporosis International, 2023, v. 34, n. 5, p. 1005, doi. 10.1007/s00198-023-06668-z

By:

Kim, K.J.;
Hong, N.;
Lee, S.;
Shin, S.;
Rhee, Y.

Publication type:

Article

Osteoporosis related to WNT1 variants: a not infrequent cause of osteoporosis.

Published in:

Osteoporosis International, 2023, v. 34, n. 2, p. 405, doi. 10.1007/s00198-022-06609-2

By:

Peris, Pilar;
Monegal, Ana;
Mäkitie, Riikka E.;
Guañabens, Nuria;
González-Roca, Eva

Publication type:

Article

Retrospective analyses of clinical features in 28 Chinese patients with type V osteogenesis imperfecta: new perspectives in an old issue.

Published in:

Osteoporosis International, 2023, v. 34, n. 2, p. 369, doi. 10.1007/s00198-022-06581-x

By:

Tan, Zhijia;
Shek, Hiu Tung;
Dong, Zhongxin;
Feng, Lin;
Zhou, Yapeng;
Yin, Shijie;
Qiu, Anmei;
Dong, Lina;
Gao, Bo;
Chen, Peikai;
To, Michael Kai Tsun

Publication type:

Article

Osteogenesis imperfecta and rheumatoid arthritis: connective issues.

Published in:

2022

By:

Damian, Laura Otilia;
Miclea, Diana;
Vulturar, Romana;
Crăciun, Alexandra

Publication type:

Letter

Rheumatoid arthritis and osteogenesis imperfecta: is there a genetic causal association?

Published in:

2022

By:

Mormile, Ilaria;
Russo, Roberta;
Andolfo, Immacolata;
de Paulis, Amato;
Rossi, Francesca Wanda;
Rendina, Domenico

Publication type:

Letter

Clinical severity prediction in children with osteogenesis imperfecta caused by COL1A1/2 defects.

Published in:

Osteoporosis International, 2022, v. 33, n. 6, p. 1373, doi. 10.1007/s00198-021-06263-0

By:

Yang, Lin;
Liu, Bo;
Dong, Xinran;
Wu, Jing;
Sun, Chengjun;
Xi, Li;
Cheng, Ruoqian;
Wu, Bingbing;
Wang, Huijun;
Tong, Shiyuan;
Wang, Dahui;
Luo, Feihong

Publication type:

Article

Snyder-Robinson syndrome: differential diagnosis of osteogenesis imperfecta.

Published in:

Osteoporosis International, 2022, v. 33, n. 5, p. 1177, doi. 10.1007/s00198-021-06228-3

By:

Valera Ribera, C;
Martinez-Ferrer, À;
Flores Fernández, E;
Vázquez Gómez, I;
Orenes Vera, A;
Valls Pascual, E;
Ybáñez García, D;
Alegre Sancho, JJ

Publication type:

Article

A novel mutation in collagen gene COL1A2 associated with transient regional osteoporosis.

Published in:

Osteoporosis International, 2022, v. 33, n. 1, p. 299, doi. 10.1007/s00198-021-06135-7

By:

Varenna, M.;
Crotti, C.;
Bonati, M. T.;
Zucchi, F.;
Gallazzi, M.;
Caporali, R.

Publication type:

Article

Craniocervical abnormalities in osteogenesis imperfecta type V.

Published in:

Osteoporosis International, 2022, v. 33, n. 1, p. 177, doi. 10.1007/s00198-021-06088-x

By:

Ludwig, K.;
Seiltgens, C.;
Ibba, A.;
Saran, N.;
Ouellet, J. A.;
Glorieux, F.;
Rauch, F.

Publication type:

Article

Denosumab for the treatment of primary pediatric osteoporosis.

Published in:

Osteoporosis International, 2021, v. 32, n. 11, p. 2377, doi. 10.1007/s00198-021-06002-5

By:

Anastasilakis, A.D.;
Makras, P.;
Doulgeraki, A.;
Polyzos, S.A.;
Guarnieri, V.;
Papapoulos, S.E.

Publication type:

Article

Novel homozygous variant in BMP1 associated with a rare osteogenesis imperfecta phenotype.

Published in:

Osteoporosis International, 2021, v. 32, n. 6, p. 1239, doi. 10.1007/s00198-021-05838-1

By:

Choksi, I. N.;
Cox, A.;
Robinson, C.;
Bale, A.;
Carpenter, T. O.

Publication type:

Article

Hospital admissions of patients with osteogenesis imperfecta in the English NHS.

Published in:

Osteoporosis International, 2021, v. 32, n. 6, p. 1207, doi. 10.1007/s00198-020-05755-9

By:

Kolovos, S.;
Javaid, M. K.;
Pinedo-Villanueva, R.

Publication type:

Article

Physical function in UK adults with osteogenesis imperfecta: a cross-sectional analysis of the RUDY study.

Published in:

Osteoporosis International, 2021, v. 32, n. 1, p. 157, doi. 10.1007/s00198-020-05537-3

By:

Orlando, G.;
Pinedo-Villanueva, R.;
Reeves, N. D.;
Javaid, M. K.;
Ireland, A.

Publication type:

Article

IQ driving QI: the Asia Pacific Consortium on Osteoporosis (APCO): an innovative and collaborative initiative to improve osteoporosis care in the Asia Pacific.

Published in:

Osteoporosis International, 2020, v. 31, n. 11, p. 2077, doi. 10.1007/s00198-020-05495-w

By:

Chandran, M.;
Bhadada, S.K.;
Ebeling, P.R.;
Gilchrist, N.L.;
Khan, A.H.;
Halbout, P.;
Lekamwasam, S.;
Lyubomirsky, G.;
Mitchell, P.J.;
Nguyen, T.V.;
Tiu, K.L.

Publication type:

Article

The molecular landscape of osteogenesis imperfecta in a Brazilian tertiary service cohort.

Published in:

Osteoporosis International, 2020, v. 31, n. 7, p. 1341, doi. 10.1007/s00198-020-05366-4

By:

Fernandes, A.M.;
Rocha-Braz, M.G.M.;
França, M.M.;
Lerario, A.M.;
Simões, V.R.F.;
Zanardo, E.A.;
Kulikowski, L.D.;
Martin, R.M.;
Mendonca, B.B.;
Ferraz-de-Souza, B.

Publication type:

Article

Correction to: Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta.

Published in:

2020

By:

Ohata, Y.;
Takeyari, S.;
Nakano, Y.;
Kitaoka, T.;
Nakayama, H.;
Bizaoui, V.;
Yamamoto, K.;
Miyata, K.;
Fujiwara, M.;
Kubota, T.;
Michigami, T.;
Yamamoto, T.;
Namba, N.;
Ebina, K.;
Yoshikawa, H.;
Ozono, K.

Publication type:

Correction Notice

Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta.

Published in:

Osteoporosis International, 2019, v. 30, n. 11, p. 2333, doi. 10.1007/s00198-019-05076-6

By:

Ohata, Y.;
Takeyari, S.;
Nakano, Y.;
Kitaoka, T.;
Nakayama, H.;
Bizaoui, V.;
Yamamoto, K.;
Miyata, K.;
Fujiwara, M.;
Kubota, T.;
Michigami, T.;
Yamamoto, T.;
Namba, N.;
Ebina, K.;
Yoshikawa, H.;
Ozono, K.

Publication type:

Article

Osteogenesis imperfecta and the teeth, eyes, and ears—a study of non-skeletal phenotypes in adults.

Published in:

Osteoporosis International, 2018, v. 29, n. 12, p. 2781, doi. 10.1007/s00198-018-4663-x

By:

Hald, J.D.;
Folkestad, L.;
Swan, C.Z.;
Wanscher, J.;
Schmidt, M.;
Gjørup, H.;
Haubek, D.;
Leonhard, C.-H.;
Larsen, D.A.;
Hjortdal, J.Ø.;
Harsløf, T.;
Duno, M.;
Lund, A.M.;
Jensen, J.-E.B.;
Brixen, K.;
Langdahl, B.

Publication type:

Article

A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern.

Published in:

2018

By:

Rolvien, T.;
Kornak, U.;
Stürznickel, J.;
Schinke, T.;
Amling, M.;
Mundlos, S.;
Oheim, R.

Publication type:

Report

Long-term follow-up in osteogenesis imperfecta type VI.

Published in:

Osteoporosis International, 2017, v. 28, n. 10, p. 2975, doi. 10.1007/s00198-017-4141-x

By:

Trejo, P.;
Palomo, T.;
Montpetit, K.;
Fassier, F.;
Sato, A.;
Glorieux, F.;
Rauch, F.

Publication type:

Article

Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing.

Published in:

Osteoporosis International, 2017, v. 28, n. 10, p. 2985, doi. 10.1007/s00198-017-4143-8

By:

Liu, Y.;
Asan;
Ma, D.;
Lv, F.;
Xu, X.;
Wang, J.;
Xia, W.;
Jiang, Y.;
Wang, O.;
Xing, X.;
Yu, W.;
Sun, J.;
Song, L.;
Zhu, Y.;
Yang, H.;
Li, M.

Publication type:

Article

Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta.

Published in:

Osteoporosis International, 2017, v. 28, n. 7, p. 2095, doi. 10.1007/s00198-017-4031-2

By:

Bardai, G.;
Ward, L.;
Trejo, P.;
Moffatt, P.;
Glorieux, F.;
Rauch, F.

Publication type:

Article

Novel mutations in the SEC24D gene in Chinese families with autosomal recessive osteogenesis imperfecta.

Published in:

Osteoporosis International, 2017, v. 28, n. 4, p. 1473, doi. 10.1007/s00198-016-3866-2

By:

Zhang, H.;
Yue, H.;
Wang, C.;
Gu, J.;
He, J.;
Fu, W.;
Hu, W.;
Zhang, Z.

Publication type:

Article

Serum creatine kinase isoenzymes in children with osteogenesis imperfecta.

Published in:

Osteoporosis International, 2017, v. 28, n. 1, p. 339, doi. 10.1007/s00198-016-3729-x

By:

D'Eufemia, P.;
Finocchiaro, R.;
Zambrano, A.;
Lodato, V.;
Celli, L.;
Finocchiaro, S.;
Persiani, P.;
Turchetti, A.;
Celli, M.

Publication type:

Article

DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum.

Published in:

Osteoporosis International, 2016, v. 27, n. 12, p. 3607, doi. 10.1007/s00198-016-3709-1

By:

Bardai, G.;
Moffatt, P.;
Glorieux, F.;
Rauch, F.

Publication type:

Article

Osteogenesis imperfecta in children and adolescents-new developments in diagnosis and treatment.

Published in:

Osteoporosis International, 2016, v. 27, n. 12, p. 3427, doi. 10.1007/s00198-016-3723-3

By:

Trejo, P.;
Rauch, F.

Publication type:

Article

Skeletal phenotypes in adult patients with osteogenesis imperfecta-correlations with COL1A1/ COL1A2 genotype and collagen structure.

Published in:

Osteoporosis International, 2016, v. 27, n. 11, p. 3331, doi. 10.1007/s00198-016-3653-0

By:

Hald, J.;
Folkestad, L.;
Harsløf, T.;
Lund, A.;
Duno, M.;
Jensen, J.;
Neghabat, S.;
Brixen, K.;
Langdahl, B.

Publication type:

Article

Impaired bone remodeling in children with osteogenesis imperfecta treated and untreated with bisphosphonates: the role of DKK1, RANKL, and TNF-α.

Published in:

Osteoporosis International, 2016, v. 27, n. 7, p. 2355, doi. 10.1007/s00198-016-3501-2

By:

Brunetti, G.;
Papadia, F.;
Tummolo, A.;
Fischetto, R.;
Nicastro, F.;
Piacente, L.;
Ventura, A.;
Mori, G.;
Oranger, A.;
Gigante, I.;
Colucci, S.;
Ciccarelli, M.;
Grano, M.;
Cavallo, L.;
Delvecchio, M.;
Faienza, M.

Publication type:

Article

Fracture healing: a consensus report from the International Osteoporosis Foundation Fracture Working Group.

Published in:

Osteoporosis International, 2016, v. 27, n. 7, p. 2197, doi. 10.1007/s00198-016-3513-y

By:

Silverman, S.;
Kupperman, E.;
Bukata, S.

Publication type:

Article

Myostatin deficiency partially rescues the bone phenotype of osteogenesis imperfecta model mice.

Published in:

Osteoporosis International, 2016, v. 27, n. 1, p. 161, doi. 10.1007/s00198-015-3226-7

By:

Oestreich, A.;
Carleton, S.;
Yao, X.;
Gentry, B.;
Raw, C.;
Brown, M.;
Pfeiffer, F.;
Wang, Y.;
Phillips, C.

Publication type:

Article

Zoledronic acid in children with osteogenesis imperfecta and Bruck syndrome: a 2-year prospective observational study.

Published in:

Osteoporosis International, 2016, v. 27, n. 1, p. 81, doi. 10.1007/s00198-015-3216-9

By:

Otaify, G.;
Aglan, M.;
Ibrahim, M.;
Elnashar, M.;
Banna, R.;
Temtamy, S.

Publication type:

Article

Bone structure assessed by HR-pQCT, TBS and DXL in adult patients with different types of osteogenesis imperfecta.

Published in:

Osteoporosis International, 2015, v. 26, n. 10, p. 2431, doi. 10.1007/s00198-015-3156-4

By:

Kocijan, R.;
Muschitz, C.;
Haschka, J.;
Hans, D.;
Nia, A.;
Geroldinger, A.;
Ardelt, M.;
Wakolbinger, R.;
Resch, H.

Publication type:

Article

Adult Brtl/+ mouse model of osteogenesis imperfecta demonstrates anabolic response to sclerostin antibody treatment with increased bone mass and strength.

Published in:

Osteoporosis International, 2014, v. 25, n. 8, p. 2097, doi. 10.1007/s00198-014-2737-y

By:

Sinder, B.;
White, L.;
Salemi, J.;
Ominsky, M.;
Caird, M.;
Marini, J.;
Kozloff, K.

Publication type:

Article

Extraperitoneal laparoscopy-assisted percutaneous nephrolithotomy in a patient with osteogenesis imperfecta.

Published in:

Urological Research, 2011, v. 39, n. 1, p. 73, doi. 10.1007/s00240-010-0263-8

By:

Basal, Seref;
Ozgok, Yasar;
Tahmaz, Lutfi;
Atim, Abdulkadir;
Zor, Murat;
Bilgic, Serkan;
Istanbulluoglu, Okan

Publication type:

Article

Reviewing hereditary connective tissue disorders: Proposals of harmonic medicolegal assessments.

Published in:

International Journal of Legal Medicine, 2024, v. 138, n. 6, p. 2507, doi. 10.1007/s00414-024-03290-4

By:

Galante, Nicola;
Bedeschi, Maria Francesca;
Beltrami, Benedetta;
Bailo, Paolo;
Silva Palomino, Laura Alicia;
Piccinini, Andrea

Publication type:

Article