Works matching DE "OSTEOCHONDRODYSPLASIAS"

Results: 148

Rhizomelic Chondrodysplasia Punctata Type 1.

Published in:

Neonatology Today, 2025, v. 20, n. 5, p. 49

By:

Summerlin, Thanh;
Philips, Joseph B.

Publication type:

Article

IGFBP5 regulates fibrocartilage differentiation and cartilage injury induced by T-2 toxin via blocking IGF-1/IGF-1R signalling.

Published in:

Rheumatology, 2025, v. 64, n. 6, p. 4051, doi. 10.1093/rheumatology/keaf084

By:

Wang, Xiaoqing;
Wang, Yinxia;
Lei, Pengzhen;
Qu, Xiaodong;
Qi, Rui;
Chen, Duanmingyu;
Chang, Yanhai

Publication type:

Article

Congenital Disorders of the Shoulder Girdle: A Review of the Literature.

Published in:

Journal of Research & Practice on the Musculoskeletal System (JRPMS), 2025, v. 9, n. 1, p. 21, doi. 10.22540/JRPMS-09-021

By:

Kokkineli, Stefania;
Zafeiris, Christos;
Chronopoulos, Efstathios

Publication type:

Article

Expanding the Clinical Features of Schimke Immuno-osseous Dysplasia: a New Patient with a Novel Variant and Novel Clinical Findings.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2025, v. 17, n. 2, p. 126, doi. 10.4274/jcrpe.galenos.2024.2024-1-17

By:

Alavanda, Ceren;
Demir, Şenol;
Güven, Serçin;
Eltan, Mehmet;
Eltan, Sevgi Bilgiç;
Sefer, Asena Pınar;
Pul, Serim;
Güran, Tülay;
Alpay, Harika;
Arman, Ahmet;
Ata, Pınar;
Turan, Serap

Publication type:

Article

运城市大骨节病区膳食营养结构调查.

Published in:

Chinese Nursing Research, 2023, v. 37, n. 18, p. 3408, doi. 10.12102/j.issn.1009-6493.2023.18.033

By:

聂晓峰;
宁欣;
陆立星;
张振国;
李静;
张茵茵;
岳栋材

Publication type:

Article

Focal dermal hypoplasia: a probable underrecognized low bone mass disorder secondary to aberrant Wnt signaling.

Published in:

Osteoporosis International, 2025, v. 36, n. 3, p. 555, doi. 10.1007/s00198-024-07382-0

By:

Ovejero, Diana;
Garcia-Giralt, Natalia;
Patiño-Salazar, Juan David;
Rabionet, Raquel;
Nogués, Xavier

Publication type:

Article

Latent metabolic bone disease, skeletal dysplasia and other conditions related to low bone formation among 38 patients with subtrochanteric femoral fractures: a retrospective observational study.

Published in:

Osteoporosis International, 2024, v. 35, n. 9, p. 1633, doi. 10.1007/s00198-024-07168-4

By:

Kimura, Soichiro;
Sunouchi, Takashi;
Watanabe, So;
Hoshino, Yoshitomo;
Hidaka, Naoko;
Kato, Hajime;
Takeda, Shu;
Nangaku, Masaomi;
Makita, Noriko;
Azuma, Kotaro;
Kojima, Taro;
Matsubara, Takehiro;
Saito, Taku;
Ito, Nobuaki

Publication type:

Article

Quantitative anatomy of the growing clavicle in the human fetus: CT, digital image analysis, and statistical study.

Published in:

Surgical & Radiologic Anatomy, 2017, v. 39, n. 8, p. 827, doi. 10.1007/s00276-017-1821-3

By:

Wiśniewski, Marcin;
Baumgart, Mariusz;
Grzonkowska, Magdalena;
Małkowski, Bogdan;
Flisiński, Piotr;
Dombek, Małgorzata;
Szpinda, Michał

Publication type:

Article

Anaesthesia recommendations for Schwartz-Jampel syndrome.

Published in:

Anaesthesiologie & Intensivmedizin, 2023, v. 64, p. 1

By:

Godai, Kohei

Publication type:

Article

Larsen syndrome.

Published in:

Anaesthesiologie & Intensivmedizin, 2022, v. 63, p. S151, doi. 10.19224/ai2022.S151

By:

Chin, Joel;
Brooke, Jenny

Publication type:

Article

Maffucci Syndrome.

Published in:

Bulletin of the Hospital for Joint Diseases, 2015, v. 73, n. 4, p. 282

By:

Ngai, Calvin;
Ding, David Y.;
Rapp, Timothy B.

Publication type:

Article

Re-alignment-procedures for Skeletal Dysplasia in Three Patients with Genetically Diverse Syndromes.

Published in:

Orthopaedic Surgery, 2013, v. 5, n. 1, p. 33, doi. 10.1111/os.12023

By:

Al Kaissi, Ali;
Ganger, Rudolf;
Roetzer, Katharina M.;
Schwarzbraun, Thomas;
Klaushofer, Klaus;
Grill, Franz

Publication type:

Article

Kashin–Beck Disease: A Risk Factor for Sarcopenia and Its Interaction with Selenium.

Published in:

Nutrients, 2024, v. 16, n. 24, p. 4343, doi. 10.3390/nu16244343

By:

Wu, Haotian;
Chen, Zhaoyu;
Wang, Ou;
Jiang, Tong;
Huang, Jian;
Wang, Jun;
Lin, Jianhao

Publication type:

Article

Prevalence of T-2 Toxin in the Food and Beverages of Residents Living in a Kashin–Beck-Disease Area of Qamdo, Tibet.

Published in:

Nutrients, 2024, v. 16, n. 10, p. 1449, doi. 10.3390/nu16101449

By:

Jiang, Tong;
Yan, Junan;
Tan, Hongxing;
Pu, Zhu;
Wang, Ou;
Liu, Tao;
Chen, Zhaoyu;
Gao, Jiaxiang;
Wang, Jun;
Lin, Jianhao;
Huo, Junsheng;
Huang, Jian

Publication type:

Article

Comparative Analysis of Gut Microbiota from Rats Induced by Se Deficiency and T-2 Toxin.

Published in:

Nutrients, 2023, v. 15, n. 24, p. 5027, doi. 10.3390/nu15245027

By:

Wu, Yifan;
Gong, Yi;
Zhang, Yu;
Li, Shujin;
Wang, Chaowei;
Yuan, Yuequan;
Lv, Xi;
Liu, Yanli;
Chen, Feihong;
Chen, Sijie;
Zhang, Feiyu;
Guo, Xiong;
Wang, Xi;
Ning, Yujie;
Zhao, Hongmou

Publication type:

Article

A Metabolomics Study of Feces Revealed That a Disturbance of Selenium-Centered Metabolic Bioprocess Was Involved in Kashin–Beck Disease, an Osteoarthropathy Endemic to China.

Published in:

Nutrients, 2023, v. 15, n. 21, p. 4651, doi. 10.3390/nu15214651

By:

Wen, Yan;
Wang, Bingyi;
Shi, Panxing;
Chu, Xiaoge;
Shi, Sirong;
Yao, Yao;
Zhang, Lu;
Zhang, Feng

Publication type:

Article

Nurses' Working Experiences of Their Provision of Cross-Cultural Services to Tibetan Patients With Kashin–Beck Disease: A Qualitative Study.

Published in:

Journal of Transcultural Nursing, 2022, v. 33, n. 3, p. 363, doi. 10.1177/10436596221075979

By:

Tan, Rong;
Zhou, Wenjuan;
Ye, Shunan;
Teng, Fen;
Zhang, Jingshuo

Publication type:

Article

Diffuse idiopathic skeletal hyperostosis (DISH): an often missed diagnosis.

Published in:

International Journal of Rheumatic Diseases, 2008, v. 11, n. 1, p. 66, doi. 10.1111/j.1756-185X.2008.00333.x

By:

GARG, Shriram;
KAPOOR, Sanjiv;
MALAVIYA, Anand Narayan

Publication type:

Article

Incidentally diagnosed melorheostosis of upper limb: case report.

Published in:

2015

By:

Vyskocil, Vaclav;
Koudela Jr, Karel;
Pavelka, Tomas;
Stajdlova, Kristyna;
Suchy, David

Publication type:

Case Study

Co-Occurrence of Reciprocal Translocation and COL2A1 Mutation in a Fetus with Severe Skeletal Dysplasia: Implications for Genetic Counseling.

Published in:

Cytogenetic & Genome Research, 2015, v. 145, n. 1, p. 25, doi. 10.1159/000381169

By:

Heinrich, Tilman;
Nanda, Indrajit;
Rehn, Monika;
Zollner, Ursula;
Ernestus, Karen;
Wirth, Clemens;
Schlüter, Gregor;
Schmid, Michael;
Kunstmann, Erdmute

Publication type:

Article

Neuropathology of Raine syndrome.

Published in:

Acta Neuropathologica, 2002, v. 103, n. 3, p. 281, doi. 10.1007/s00401-001-0469-5

By:

Rickert, Christian H.;
Rieder, Harald;
Rehder, Helga;
Hülskamp, Georg;
Hörnig-Franz, Isabel;
Louwen, Frank;
Paulus, Werner

Publication type:

Article

A Case of Boomerang Dysplasia with a Novel Causative Mutation in Filamin B: Identification of Typical Imaging Findings on Ultrasonography and 3D-CT Imaging.

Published in:

Fetal Diagnosis & Therapy, 2012, v. 32, n. 3, p. 216, doi. 10.1159/000335687

By:

Tsutsumi, Seiji;
Maekawa, Ayako;
Obata, Miyuki;
Morgan, Timothy;
Robertson, Stephen P.;
Kurachi, Hirohisa

Publication type:

Article

Schwartz-Jampel syndrome is not related to malignant hyperthermia.

Published in:

2017

By:

Godai, Kohei

Publication type:

Letter

Successful airway management using a MultiViewScope handle with a stylet scope in a patient with Schwartz-Jampel syndrome.

Published in:

JA Clinical Reports, 2016, v. 2, n. 1, p. 1, doi. 10.1186/s40981-016-0062-5

By:

Mukaihara, Keika;
Godai, Kohei;
Yamada, Tomotsugu;
Hasegawa-Moriyama, Maiko;
Kanmura, Yuichi

Publication type:

Article

Management Strategies of Fibrous Dysplasia Involving the Paranasal Sinus and the Adjacent Skull Base.

Published in:

ENT: Ear, Nose & Throat Journal, 2025, v. 104, n. 2, p. 85, doi. 10.1177/01455613221088728

By:

Shi, Li-li;
Xiong, Peng;
Zhen, Hong-tao

Publication type:

Article

Multi-Nodule of Large Airway: Tracheobronchopathia Osteochondroplastica, Two Cases Report and Literature Review.

Published in:

ENT: Ear, Nose & Throat Journal, 2024, v. 103, n. 4, p. NP226, doi. 10.1177/01455613211051662

By:

Jiang, He;
Yang, Xiaoying;
Guo, Ying

Publication type:

Article

Tracheobronchopathia Osteochondroplastica: A Case Report.

Published in:

ENT: Ear, Nose & Throat Journal, 2022, v. 101, n. 8, p. NP341, doi. 10.1177/0145561320969445

By:

Zhang, Yi-Wen;
Zhu, Wen-Fang;
Shi, Qing-Ming

Publication type:

Article

Ultrasound and MRI comprehensive approach in prenatal diagnosis of fetal osteochondrodysplasias. Cases series.

Published in:

2017

By:

Berceanu, Costin;
Gheonea, Ioana Andreea;
Vlădăreanu, Simona;
Cîrstoiu, Monica Mihaela;
Vlădăreanu, Radu;
Mehedinţu, Claudia;
Berceanu, Sabina;
Ciortea, Răzvan;
Brătilă, Elvira

Publication type:

journal article

A novel single‐base deletion of the RUNX Family Transcription Factor 2 gene associated with cleidocranial dysplasia.

Published in:

European Journal of Oral Sciences, 2023, v. 131, n. 1, p. 1, doi. 10.1111/eos.12910

By:

Pan, Yuhua;
Lu, Wanyu;
Meng, Weidong;
Liao, Wenxiao;
Hu, Aiqin;
Wu, Buling;
Xiong, Fu

Publication type:

Article

Partial Deletion of the Sulfate Transporter SLC13A1 Is Associated with an Osteochondrodysplasia in the Miniature Poodle Breed.

Published in:

PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0051917

By:

Neff, Mark W.;
Beck, John S.;
Koeman, Julie M.;
Boguslawski, Elissa;
Kefene, Lisa;
Borgman, Andrew;
Ruhe, Alison L.

Publication type:

Article

Anemia in patients with cartilage hair hypoplasia: a narrative review and recommendations.

Published in:

Laboratory Medicine, 2025, v. 56, n. 3, p. 213, doi. 10.1093/labmed/lmae082

By:

Lewandowska, Natalia;
Ordak, Michal

Publication type:

Article

External auditory exostoses: Evaluation and treatment

Published in:

Otolaryngology-Head & Neck Surgery, 2008, v. 138, n. 5, p. 672, doi. 10.1016/j.otohns.2008.01.023

By:

House, John W.;
Wilkinson, Eric P.

Publication type:

Article

Early impairment of somatosensory evoked potentials in very young children with achondroplasia with foramen magnum stenosis.

Published in:

2017

By:

Fornarino, Stefania;
Rossi, Daniela Paola;
Severino, Mariasavina;
Pistorio, Angela;
Allegri, Anna Elsa Maria;
Martelli, Simona;
Doria Lamba, Laura;
Lanteri, Paola

Publication type:

journal article

Identifying spinal cord compression in achondroplasia - the role of somatosensory evoked potentials and the need for screening.

Published in:

2017

By:

Thompson, Dominic

Publication type:

journal article

Síndrome otopalatodigital tipo II, aproximación prenatal y diagnóstico clínico de un caso complejo de displasia ósea.

Published in:

Revista Chilena de Obstetricia y Ginecología, 2012, v. 77, n. 4, p. 310, doi. 10.4067/S0717-75262012000400013

By:

Saldarriaga, Wilmar;
Nieto Calvache, Albaro José;
Carlos Quintero, Juan;
Pachajoa, Harry;
Isaza, Carolina

Publication type:

Article

Problems in physical therapy and rehabilitation in Schwartz-Jampel syndrome: case study.

Published in:

2014

By:

Kuliński, Włodzisław;
Burak, Mateusz

Publication type:

Case Study

INCIDENCE OF TIBIAL DYSCHONDROPLASIA IN BROILER CHICKS AT MARKETING AGE AS AFFECTED BY THE LEVEL OF DIETARY CHLORIDE.

Published in:

Egyptian Poultry Science Journal, 2015, v. 35, n. 1, p. 349

By:

Nehad, A. Ramadan;
Shalash, S.M.;
Moustafa, Kout El Kloub M. El.;
Youssef, S. F.;
Refaie, Amira M.

Publication type:

Article

A Case Series of Three Patients with Cleidocranial Dysplasia: Clinical Presentation and Diagnostic Considerations.

Published in:

Cleft Palate Craniofacial Journal, 2025, v. 62, n. 4, p. 715, doi. 10.1177/10556656241234742

By:

Berber, Uğur;
Gül Şıraz, Ülkü;
Yakubi, Mustafa;
Gök, Ebru;
Kara, Leyla;
Kiraz, Aslihan;
Dündar, Munis;
Hatipoglu, Nihal

Publication type:

Article

Mazabraud syndrome.

Published in:

Indian Journal of Endocrinology & Metabolism, 2013, v. 17, n. 4, p. 740, doi. 10.4103/2230-8210.113773

By:

John, Anulekha Mary;
Behera, Kishore Kumar;
Mathai, Thomas;
Parmar, Harshad;
Paul, Thomas V.

Publication type:

Article

A rare case of Melnick Needles syndrome. Case report and brief review of literature.

Published in:

2018

By:

Mangaraj, Swayamsidha;
Choudhury, Arun Kumar;
Mishra, Ipsita;
Patro, Debasish;
Baliarsinha, Anoj Kumar

Publication type:

Case Study

Osteochondroma of the Ventral Scapula Causing Scapular Static Winging and Secondary Rib Erosion.

Published in:

Journal of Clinical & Diagnostic Research, 2014, v. 8, n. 5, p. 3, doi. 10.7860/JCDR/2014/8129.4335

By:

SIVANANDA, P.;
RAO, B. KAILASH;
KUMAR, P. VARUN;
G. SANTHOSH RAM

Publication type:

Article

Mechanistic insights into the cellular effects of a novel FN1 variant associated with a spondylometaphyseal dysplasia.

Published in:

Clinical Genetics, 2018, v. 94, n. 5, p. 429, doi. 10.1111/cge.13424

By:

Cadoff, E.B.;
Sheffer, R.;
Wientroub, S.;
Ovadia, D.;
Meiner, V.;
Schwarzbauer, J.E.

Publication type:

Article

Novel spondyloepimetaphyseal dysplasia due to <italic>UFSP2</italic> gene mutation.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 671, doi. 10.1111/cge.13134

By:

Di Rocco, M.;
Rusmini, M.;
Caroli, F.;
Madeo, A.;
Bertamino, M.;
Marre‐brunenghi, G.;
Ceccherini, I.

Publication type:

Article

Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.

Published in:

Clinical Genetics, 2016, v. 90, n. 6, p. 550, doi. 10.1111/cge.12781

By:

Putoux, A.;
Alqahtani, A.;
Pinson, L.;
Paulussen, A.D.C.;
Michel, J.;
Besson, A.;
Mazoyer, S.;
Borg, I.;
Nampoothiri, S.;
Vasiljevic, A.;
Uwineza, A.;
Boggio, D.;
Champion, F.;
de Die‐Smulders, C.E.;
Gardeitchik, T.;
van Putten, W.K.;
Perez, M.J.;
Musizzano, Y.;
Razavi, F.;
Drunat, S.

Publication type:

Article

Fetal skeletal dysplasias in a tertiary care center: radiology, pathology, and molecular analysis of 112 cases.

Published in:

Clinical Genetics, 2015, v. 87, n. 4, p. 330, doi. 10.1111/cge.12434

By:

Barkova, E.;
Mohan, U.;
Chitayat, D.;
Keating, S.;
Toi, A.;
Frank, J.;
Frank, R.;
Tomlinson, G.;
Glanc, P.

Publication type:

Article

Jewels in the rough – the study of non-coding genomic sequences as a conduit to understanding human disease.

Published in:

2006

By:

Pouladi, M. A.

Publication type:

Other

The Genetics Corner: Hypophosphatasia.

Published in:

Neonatology Today, 2020, v. 15, n. 10, p. 99, doi. 10.51362/neonatology.today/202010151099103

By:

Hua Wang;
Rajakumar, Nivedita;
Ramanathan, Subhadra;
Clark, Robin

Publication type:

Article

Cantu syndrome in an Egyptian child.

Published in:

2018

By:

Shawky, Rabah M.;
Gamal, Radwa

Publication type:

Case Study

Removal notice to "An Egyptian patient with Schwartz-Jampel syndrome type I and new ocular findings" [Egypt J Med Hum Genet 18 (2017) 393-396].

Published in:

Egyptian Journal of Medical Human Genetics, 2018, v. 19, n. 4, p. 443, doi. 10.1016/j.ejmhg.2018.04.004

By:

Elsayed, Solaf M.;
Gamal, Radwa

Publication type:

Article

An Egyptian patient with Schwartz-Jampel syndrome type I and new ocular findings.

Published in:

Egyptian Journal of Medical Human Genetics, 2017, v. 18, n. 4, p. 393, doi. 10.1016/j.ejmhg.2017.06.001

By:

Elsayed, Solaf M.;
Gamal, Radwa

Publication type:

Article