Works matching DE "OSTEOGENESIS imperfecta"

Results: 1493

SEC24D depletion induces osteogenic differentiation deficiency by inactivating the ATF6/TGF-β/Runx2 regulatory loop.

Published in:

Communications Biology, 2025, v. 8, n. 1, p. 1, doi. 10.1038/s42003-025-08175-9

By:

Zhang, Jing;
Yang, Kai;
Chen, Wen-qi;
Sun, Dong-lan;
Hu, Hua-ying;
Li, Qian;
Yan, You-sheng;
Li, Ya-zhou;
Yin, Cheng-hong;
Guo, Qing

Publication type:

Article

Orthodontic approach in patients with osteogenesis imperfecta.

Published in:

2024

By:

Izzi, Gabriele;
Izzi, Francesca;
Frijo, Graziano;
Romito, Myriam;
Benvenuti, Clarissa Calugi;
Severino, Marco;
Nagni, Matteo

Publication type:

Case Study

Grading Pseudo Fractures.

Published in:

Calcified Tissue International, 2025, v. 116, n. 1, p. 1, doi. 10.1007/s00223-025-01383-9

By:

Rao, Sudhaker D.

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

A rare association of osteogenesis imperfecta and juvenile idiopathic arthritis: case reports and literature review.

Published in:

Turkish Journal of Pediatrics, 2025, v. 67, n. 2, p. 273, doi. 10.24953/turkjpediatr.2025.5382

By:

Zora, Hatice Kubra;
Aydin, Tuncay;
Bektas, Aslıhan Uzun;
Sahin, Sezgin;
Kasapcopur, Ozgur;
Kilic, Sara Sebnem

Publication type:

Article

Management of a Patient with Severe Osteogenesis Imperfecta Undergoing Laparoscopic Cholecystectomy.

Published in:

2025

By:

Scott, Sarah;
Jordan, Helen;
Gill, Laura;
Luhmann, Andreas;
Abbott, Jamie;
Ralston, Stuart H.

Publication type:

Case Study

Osteogenesis imperfecta: different anaesthetic approaches to two paediatric cases.

Published in:

2004

By:

Karabiyik, Lale;
Capan, Zeynep

Publication type:

Letter

Polyetheretherketone implant surface functionalization technologies and the need for a transparent quality evaluation system.

Published in:

Polymer International, 2021, v. 70, n. 8, p. 1002, doi. 10.1002/pi.6162

By:

Schaffarczyk, Dietmar;
Knaus, Jennifer;
Peeters, Gunther;
Scholl, Dieter;
Schwitalla, Andreas;
Koslowski, Christoph;
Cölfen, Helmut

Publication type:

Article

Radiofrequency ablation of chondroblastoma using a multi-tined expandable electrode system: initial results.

Published in:

2006

By:

Tins, Bernhard;
Cassar-Pullicino, Victor;
McCall, Iain;
Cool, Paul;
Williams, David;
Mangham, David

Publication type:

journal article

MRI-visible pericochlear lesions in osteogenesis imperfecta type I.

Published in:

2000

By:

Ziyeh, S.;
Berger, R.;
Reisner, K.

Publication type:

journal article

Simultaneous Bilateral Tibial Tubercle Avulsion Fractures in a Boy with Osteogenesis Imperfecta.

Published in:

European Journal of Trauma, 2003, v. 29, n. 3, p. 164, doi. 10.1007/s00068-003-1203-x

By:

Khodadadyan-Klostermann, Cyrus;
Morren, Robert;
Raschke, Michael;
Haas, Norbert

Publication type:

Article

Severe Basilar impression in osteogenesis imperfecta treated with halo gravity traction, occipitocervicothoracic fusion, foramen magnum and upper cervical decompression and expansive duroplasty: a technical note.

Published in:

Child's Nervous System, 2022, v. 38, n. 5, p. 991, doi. 10.1007/s00381-022-05495-7

By:

Jannelli, Gianpaolo;
Moiraghi, Alessandro;
Paun, Luca;
Tessitore, Enrico;
Dayer, Romain;
Bartoli, Andrea

Publication type:

Article

Rupture or traumatic dislocation of cranial suture on infants, involvement of the lambdoidal accessory bones (Wormian bones): case presentation and analysis.

Published in:

Child's Nervous System, 2019, v. 35, n. 11, p. 2233, doi. 10.1007/s00381-019-04153-9

By:

Guerrero Jazo, Francisco Javier;
Tovar Spinoza, Zulma;
Esparza Gutiérrez, Sergio Valente;
Hernández Chávez, Eli;
Monroy Rizo, Edgar Jesús

Publication type:

Article

Effects of Long-Term Pamidronate Treatment on Bone Density and Fracture Rate in 65 Osteogenesis Imperfecta Patients.

Published in:

Turkish Archives of Pediatrics, 2021, v. 56, n. 5, p. 474, doi. 10.5152/TurkArchPediatr.2021.21077

By:

Yazan, Hakan;
Güneş, Nilay;
Akpınar, Evren;
Yıldırım, Timur;
Özyalvaç, Osman Nuri;
Akkaya, Dilek Uludağ;
Tuysuz, Beyhan

Publication type:

Article

Onset and Stages of Osteogenesis in the Rabbit (Oryctolagus cuniculus) using Diaphonisation.

Published in:

Iranian Journal of Veterinary Medicine, 2022, v. 16, n. 3, p. 228, doi. 10.22059/IJVM.2022.339671.1005254

By:

Onwuama, K. T.;
Nzalak, J. O.;
Dzenda, T.;
Hambolu, J. O.;
Salami, S. O.

Publication type:

Article

OSTEOGENESIS IMPERFECTA: GENETICS AND TREATMENT.

Published in:

2018

By:

Pinnell, Jonathan;
Chaudhuri, Kaushik

Publication type:

Case Study

Anaesthetic Management of Pediatric Patient with Osteogenesis Imperfecta Posted for Radius Ulna Nailing: A Case Report.

Published in:

Archives of Anesthesiology & Critical Care, 2023, v. 9, n. 4, p. 369

By:

Deshpande, Jyoti;
Rawekar, Shreya Rajendra

Publication type:

Article

Investigation of the human disease osteogenesis imperfecta: A research-based introduction to concepts and skills in biomolecular analysis.

Published in:

Biochemistry & Molecular Biology Education, 2013, v. 41, n. 2, p. 103, doi. 10.1002/bmb.20672

By:

Mate, Karen;
Sim, Alistair;
Weidenhofer, Judith;
Milward, Liz;
Scott, Judith

Publication type:

Article

Implant therapy for a patient with osteogenesis imperfecta type I: review of literature with a case report.

Published in:

2018

By:

Prabhu, Shamit S.;
Fortier, Kevin;
May, Michael C.;
Reebye, Uday N.

Publication type:

Case Study

The psychosocial experience of individuals living with osteogenesis imperfecta: a mixed-methods systematic review.

Published in:

2016

By:

Tsimicalis, Argerie;
Denis-Larocque, Gabrielle;
Michalovic, Alisha;
Lepage, Carolann;
Williams, Karl;
Yao, Tian-Ran;
Palomo, Telma;
Dahan-Oliel, Noemi;
May, Sylvie;
Rauch, Frank;
Le May, Sylvie

Publication type:

journal article

People Made of Glass: The Collapsing Temporalities of Chronic Conditions.

Published in:

Anthropology of Consciousness, 2021, v. 32, n. 1, p. 7, doi. 10.1111/anoc.12131

By:

Madsen, Ida Vandsøe

Publication type:

Article

Correction to "Analysis of the clinical and genetic characteristics of a Chinese family with osteogenesis imperfecta type I".

Published in:: 2024
Publication type:: Correction Notice

Clinical features and molecular characterization of Chinese patients with FKBP10 variants.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 4, p. 1, doi. 10.1002/mgg3.2122

By:

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

Publication type:

Article

Cover.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 9, p. 1, doi. 10.1002/mgg3.2061

By:

Niu, Zhijie;
Lai, Yongjing;
Zhou, Wenwen;
Liu, Lingyuan;
Tan, Songhua;
He, Guangyao;
Li, Jingyu;
Tang, Fen;
Su, Yupei;
Xu, Yanglong;
Liu, Lei;
Xie, Lihong;
Fang, Qin;
Tang, Anzhou

Publication type:

Article

Analysis of the clinical and genetic characteristics of a Chinese family with osteogenesis imperfecta type I.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 9, p. 1, doi. 10.1002/mgg3.2019

By:

Niu, Zhijie;
Lai, Yongjing;
Zhou, Wenwen;
Liu, Lingyuan;
Tan, Songhua;
He, Guangyao;
Li, Jingyu;
Tang, Fen;
Su, Yupei;
Xu, Yanglong;
Liu, Lei;
Xie, Lihong;
Fang, Qin;
Tang, Anzhou

Publication type:

Article

The first glycine‐to‐tryptophan substitution in the COL1A1 gene identified in a patient with progressively‐deforming Osteogenesis imperfecta.

Published in:

2022

By:

Sałacińska, Kinga;
Michałus, Izabela;
Pinkier, Iwona;
Rutkowska, Lena;
Chlebna‐Sokół, Danuta;
Jakubowska‐Pietkiewicz, Elżbieta;
Kępczyński, Łukasz;
Salachna, Dominik;
Gach, Agnieszka

Publication type:

Case Study

Novel mutations in BMP1 result in a patient with autosomal recessive osteogenesis imperfecta.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1676

By:

Xi, Lei;
Lv, Shanshan;
Zhang, Hao;
Zhang, Zhen‐Lin

Publication type:

Article

Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1675

By:

Higuchi, Yousuke;
Hasegawa, Kosei;
Futagawa, Natsuko;
Yamashita, Miho;
Tanaka, Hiroyuki;
Tsukahara, Hirokazu

Publication type:

Article

A novel mutation in PLS3 causes extremely rare X‐linked osteogenesis imperfecta.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 12, p. 1, doi. 10.1002/mgg3.1525

By:

Hu, Jing;
Li, Lu‐jiao;
Zheng, Wen‐bin;
Zhao, Di‐chen;
Wang, Ou;
Jiang, Yan;
Xing, Xiao‐ping;
Li, Mei;
Xia, Weibo

Publication type:

Article

A novel splicing pathogenic variant in COL1A1 causing osteogenesis imperfecta (OI) type I in a Chinese family.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1366

By:

Han, Yaxin;
Wang, Dongming;
Guo, Jinli;
Xiong, Qiuhong;
Li, Ping;
Zhou, Yong‐An;
Zhao, Bin

Publication type:

Article

Consanguineous‐derived homozygous WNT1 mutation results in osteogenesis imperfect with congenital ptosis and exotropia.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1350

By:

Chen, Peng;
Chen, Jiaxi;
Yang, Zhantao;
Lu, Yang;
Shen, Liping;
Zhou, Kai;
Ye, Shenyi;
Shen, Bo

Publication type:

Article

A novel variant of the IFITM5 gene within the 5′‐UTR causes neonatal transverse clavicular fracture: Expanding the genetic spectrum.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1287

By:

Wu, Dong;
Wang, Yuxin;
Huang, Huijuan

Publication type:

Article

A 235 Kb deletion at 17q21.33 encompassing the COL1A1, and two additional secondary copy number variants in an infant with type I osteogenesis imperfecta: A rare case report.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 6, p. 1, doi. 10.1002/mgg3.1241

By:

Numbere, Numbereye;
Weber, David R.;
Porter, George;
Iqbal, Mohammed A.

Publication type:

Article

Two novel mutations of COL1A1 in fetal genetic skeletal dysplasia of Chinese.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 3, p. 1, doi. 10.1002/mgg3.1105

By:

Li, Ruibing;
Wang, Jianan;
Wang, Longxia;
Lu, Yanping;
Wang, Chengbin

Publication type:

Article

Developing pathways to clarify pathogenicity of unclassified variants in Osteogenesis Imperfecta genetic analysis.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.912

By:

Balasubramanian, Meena;
Hobson, Emma;
Skae, Mars;
McCaughey, Janine;
Stephens, David J.

Publication type:

Article

The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 8, p. N.PAG, doi. 10.1002/mgg3.823

By:

Cayami, Ferdy K.;
Maugeri, Alessandra;
Treurniet, Sanne;
Setijowati, Eva D.;
Teunissen, Bernd P.;
Eekhoff, Elisabeth M.W.;
Pals, Gerard;
Faradz, Sultana M.;
Micha, Dimitra

Publication type:

Article

Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 7, p. N.PAG, doi. 10.1002/mgg3.723

By:

Clewemar, Pantelis;
Hailer, Nils P.;
Hailer, Yasmin;
Klar, Joakim;
Kindmark, Andreas;
Ljunggren, Östen;
Stattin, Eva‐Lena

Publication type:

Article

COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 5, p. N.PAG, doi. 10.1002/mgg3.619

By:

Wang, Mingyuan;
Guo, Yi;
Rong, Pengfei;
Xu, Hongbo;
Gong, Lina;
Deng, Hao;
Yuan, Lamei

Publication type:

Article

De novo and inherited pathogenic variants in collagen‐related osteogenesis imperfecta.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 3, p. N.PAG, doi. 10.1002/mgg3.559

By:

Zhytnik, Lidiia;
Maasalu, Katre;
Duy, Binh Ho;
Pashenko, Andrey;
Khmyzov, Sergey;
Reimann, Ene;
Prans, Ele;
Kõks, Sulev;
Märtson, Aare

Publication type:

Article

Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.

Published in:

Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 1, p. 15, doi. 10.1002/mgg3.331

By:

Essawi, Osama;
Symoens, Sofie;
Fannana, Maha;
Darwish, Mohammad;
Farraj, Mohammad;
Willaert, Andy;
Essawi, Tamer;
Callewaert, Bert;
De Paepe, Anne;
Malfait, Fransiska;
Coucke, Paul J.

Publication type:

Article

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta.

Published in:

Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 1, p. 28, doi. 10.1002/mgg3.257

By:

Caparros‐Martin, Jose A.;
Aglan, Mona S.;
Temtamy, Samia;
Otaify, Ghada A.;
Valencia, Maria;
Nevado, Julián;
Vallespin, Elena;
Del Pozo, Angela;
Prior de Castro, Carmen;
Calatrava‐Ferreras, Lucia;
Gutierrez, Pilar;
Bueno, Ana M.;
Sagastizabal, Belen;
Guillen‐Navarro, Encarna;
Ballesta‐Martinez, Maria;
Gonzalez, Vanesa;
Basaran, Sarenur Y.;
Buyukoglan, Ruksan;
Sarikepe, Bilge;
Espinoza‐Valdez, Cecilia

Publication type:

Article

Zebrafish Models of Human Skeletal Disorders: Embryo and Adult Swimming Together.

Published in:

BioMed Research International, 2019, p. 1, doi. 10.1155/2019/1253710

By:

Carnovali, Marta;
Banfi, Giuseppe;
Mariotti, Massimo

Publication type:

Article

EP06.28: Multiple fracture newborn after Caesarean delivery: an osteogenesis imperfecta – a case report.

Published in:

Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 218, doi. 10.1002/uog.19873

By:

Suparman, E.

Publication type:

Article

OP23.07: Parental serum alkaline phosphatase activity as an auxiliary tool for prenatal diagnosis of hypophosphatasia.

Published in:

Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 136, doi. 10.1002/uog.19610

By:

Takahashi, Y.;
Murotsuki, J.;
Sawai, H.;
Kozuma, Y.;
Miyazaki, O.

Publication type:

Article

P09.06: Pregnancy complicated with maternal and fetal osteogenesis imperfecta type III.

Published in:

Ultrasound in Obstetrics & Gynecology, 2017, v. 50, p. 182, doi. 10.1002/uog.18086

By:

Gerychova, R.

Publication type:

Article

EP21.04: BOOSTB4: a clinical study to determine safety and efficacy of pre- and/or postnatal stem cell transplantation for treatment of osteogenesis imperfecta.

Published in:

2016

By:

Chitty, L.S.;
David, A.L.;
Gottschalk, I.;
Oepkes, D.;
Westgren, M.;
Götherström, C.;
Consortium, O.;
Götherström, C

Publication type:

journal article

P21.15: Intrauterine treatment of Osteogenesis imperfecta: follow-up of cases and comparison with controls.

Published in:

Ultrasound in Obstetrics & Gynecology, 2014, v. 44, p. 314, doi. 10.1002/uog.14424

By:

Yamamoto, M.;
Insunza, A.;
Testart, E.;
Escaffi, J.;
Conget, P.

Publication type:

Article

Osteogenesis imperfecta associated with increased nuchal translucency as a first ultrasound sign: report of another case.

Published in:

Ultrasound in Obstetrics & Gynecology, 2003, v. 21, n. 2, p. 200, doi. 10.1002/uog.43

By:

Viora, E.;
Sciarrone, A.;
Bastonero, S.;
Errante, G.

Publication type:

Article

Fetus with osteogenesis imperfecta presenting as increased nuchal translucency thickness in the first trimester: a case report.

Published in:

Ultrasound in Obstetrics & Gynecology, 2001, v. 18, p. 35, doi. 10.1046/j.1469-0705.2001.abs26-19.x

By:

Hsieh, T.-C.;
Yeh, G.-P.

Publication type:

Article