Works matching DE "OSTEOCHONDRODYSPLASIAS"

Results: 141

The Clinical and Molecular Spectrum of Trichorhinophalangeal Syndrome Types I and II in a Turkish Cohort Involving 22 Patients.

Published in:

Turkish Archives of Pediatrics, 2023, v. 58, n. 1, p. 98, doi. 10.5152/TurkArchPediatr.2022.22223

By:

Güneş, Nilay;
Usluer, Esra;
Ülker, Aylin Yüksel;
Alkaya, Dilek Uludağ;
Sunamak, Evrim Çifçi;
Eyüpoğlu, Figen Celep;
Uyguner, Zehra Oya;
Tüysüz, Beyhan

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

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

Locomotor problems in broilers reared on new and re-used litter.

Published in:

Italian Journal of Animal Science, 2013, v. 12, n. 2, p. 275, doi. 10.4081/ijas.2013.e45

By:

Paz, Ibiara Correia Lima Almeida;
Garcia, Rodrigo Garófallo;
Bernardi, Rodrigo;
Seno, Leonardo de Oliveira;
Nääs, Irenilza de Alencar;
Caldara, Fabiana Ribeira

Publication type:

Article

Efficacy and Complications of Palliative Irradiation in Three Scottish Fold Cats with Osteochondrodysplasia.

Published in:

Journal of Veterinary Internal Medicine, 2015, v. 29, n. 6, p. 1643, doi. 10.1111/jvim.13614

By:

Fujiwara ‐ Igarashi, A.;
Igarashi, H.;
Hasegawa, D.;
Fujita, M.

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

TRACHEOBRONCHOPATHIA OSTEOCHONDROPLASTICA COMPLICATED BY BRONCHOPULMONARY NEOPLASM.

Published in:

Acta Marisiensis. Seria Medica, 2024, v. 70, p. 228

By:

Bálint-Zsombor, Birton;
Mi Bogris, Angelica Thuy;
Pándi, Aliz;
Solovastru, Stefania;
Trinca, Flavia-Teodora;
Jimborean, Gabriela;
Vultur, Mara

Publication type:

Article

Challenges of Uncertainty in Prenatal Decision-Making: Skeletal Dysplasias.

Published in:

Journal of Law, Medicine & Ethics, 2024, v. 52, n. 2, p. 459, doi. 10.1017/jme.2024.100

By:

Ramji, Naila;
Robinson, Marie-Eve;
Moore, Gregory P.

Publication type:

Article

Screening of Proliferation-Related Genes and Pathological Changes in Thiram-Induced Tibial Dyschondroplasia.

Published in:

BioMed Research International, 2022, p. 1, doi. 10.1155/2022/6209047

By:

Jahejo, Ali Raza;
Zhang, Chen-Liang;
Nabi, Fazul;
Kalhoro, Nazeer Hussain;
Shah, Qurban Ali;
Bhutto, Zohaib Ahmed;
Zhao, Jin-Feng;
Yu, Jin;
Ning, Guan-Bao;
Zhang, Ding;
Chen, Shu-Ming;
Tian, Wen-Xia

Publication type:

Article

Thoracic solitary pedunculated osteochondroma in a child: a case report.

Published in:

2013

By:

Wali, Zubair;
Khoshhal, Khalid I.

Publication type:

Case Study

Diagnosis of Prenatal-Onset Achondrogenesis Type II by a Multidisciplinary Assessment: A Retrospective Study of 2 Cases.

Published in:

Case Reports in Obstetrics & Gynecology, 2019, p. 1, doi. 10.1155/2019/7981767

By:

Wang, Wenbo;
Wu, Qichang;
Sun, Li;
Zhong, Xiaohong;
Xu, Yasong;
Xie, Xiaojian;
Su, Zhiying

Publication type:

Article

Increased FGFR3 is involved in T-2 toxin-induced lesions of hypertrophic cartilage associated with endemic osteoarthritis.

Published in:

Human & Experimental Toxicology, 2023, v. 42, p. 1, doi. 10.1177/09603271231219480

By:

Zhang, Ying;
Fang, Qian;
Liu, Yinan;
Zhang, Dan;
He, Ying;
Liu, Fei;
Sun, Kun;
Chen, Jinghong

Publication type:

Article

T-2 toxin induces articular cartilage damage by increasing the expression of MMP-13 via the TGF-β receptor pathway.

Published in:

Human & Experimental Toxicology, 2022, v. 41, p. 1, doi. 10.1177/09603271221075555

By:

Zhang, Ying;
Li, Zhengzheng;
He, Ying;
Liu, Yinan;
Mi, Ge;
Chen, Jinghong

Publication type:

Article

Somatic activating mutations in MAP2K1 cause melorheostosis.

Published in:

Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-03720-z

By:

Kang, Heeseog;
Marini, Joan C.;
Cabral, Wayne A.;
Cowen, Edward W.;
Bhattacharyya, Timothy;
Jha, Smita;
Zuoming Deng;
Fratzl-Zelman, Nadja;
Roschger, Paul;
Klaushofer, Klaus;
Ivovic, Aleksandra;
Meylan, Françoise;
Siegel, Richard M.;
Hanson, Eric P.;
Lange, Eileen;
Katz, James

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

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

A successful anesthetic approach in a patient with Schwartz-Jampel syndrome.

Published in:

2018

By:

De Oliveira Camacho, Fernando Calado;
Lopes Amaral, Tânia Marina;
De Barros Mourão, Joana Irene

Publication type:

Case Study

Chondroectodermal Dysplasia: A Rare Syndrome.

Published in:

Journal of Dentistry of Tehran University of Medical Sciences, 2014, v. 11, n. 3, p. 361

By:

Tahririan, Dana;
Eshghi, Alireza;
Givehchian, Pirooz;
Tahririan, Mohammad Ali

Publication type:

Article

From Rarity to Reality: Nivelon-Nivelon-Mabille Syndrome Presenting with Renal Tubular Acidosis.

Published in:

Indian Journal of Nephrology, 2024, v. 34, n. 6, p. 1, doi. 10.25259/IJN_308_2024

By:

Abhinay, Abhishek;
Panda, Satyabrata;
Singh, Ankur;
Kumar, Nitish

Publication type:

Article

Fetal autopsy for the diagnosis of skeletal dysplasia and comparison with prenatal ultrasound findings over a 16-year period.

Published in:

Journal of Perinatal Medicine, 2022, v. 50, n. 9, p. 1239, doi. 10.1515/jpm-2022-0201

By:

Ozdemir, Ozge;
Aksoy, Figen;
Sen, Cihat

Publication type:

Article

Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.

Published in:

Human Genetics, 2015, v. 134, n. 7, p. 691, doi. 10.1007/s00439-015-1549-2

By:

Budde, Birgit;
Mizumoto, Shuji;
Kogawa, Ryo;
Becker, Christian;
Altmüller, Janine;
Thiele, Holger;
Rüschendorf, Franz;
Toliat, Mohammad;
Kaleschke, Gerrit;
Hämmerle, Johannes;
Höhne, Wolfgang;
Sugahara, Kazuyuki;
Nürnberg, Peter;
Kennerknecht, Ingo

Publication type:

Article

Pseudoachondroplasia: Similar radiographic findings to mucopolysaccharidosis.

Published in:

Pediatrics International, 2024, v. 66, n. 1, p. 1, doi. 10.1111/ped.15799

By:

Matsumoto, Hideki;
Hori, Tomohiro;
Mori, Mai;
Sasai, Hideo;
Ohnishi, Hidenori

Publication type:

Article

Metaphyseal anadysplasia type 1: Familial and regressive rickets manifestation.

Published in:

Pediatrics International, 2024, v. 66, n. 1, p. 1, doi. 10.1111/ped.15766

By:

Matsumoto, Hideki;
Hori, Tomohiro;
Mori, Mai;
Sasai, Hideo;
Tokuyama, Tsuyoshi;
Yamada, Takahiro;
Ohnishi, Hidenori

Publication type:

Article

Trichorhinophalangeal syndrome type I associated with imperforate hymen.

Published in:

2023

By:

Minemura, Risa;
Sugitate, Ryo;
Shimizu, Mariko;
Murata, Tomomi;
Ishige, Takashi;
Takizawa, Takumi

Publication type:

Case Study

A case of osteopathia striata with cranial sclerosis with facial nerve palsies.

Published in:

2023

By:

Yamagishi, Hirokazu;
Monden, Yukifumi;
Michigami, Toshimi;
Tachikawa, Kanako;
Osaka, Hitoshi;
Nozaki, Yasuyuki;
Tajima, Toshihiro

Publication type:

Case Study

Japanese siblings with cartilage‐hair hypoplasia exhibiting different severity.

Published in:

2023

By:

Kumagai, Naonori;
Funato, Yusuke;
Wakamatsu, Manabu;
Muramatsu, Hideki;
Mizuno, Haruo

Publication type:

Case Study

Stüve- Wiedemann syndrome in a neonate.

Published in:

Pediatrics International, 2015, v. 57, n. 2, p. 302, doi. 10.1111/ped.12431

By:

Sarafidis, Kosmas;
Piretzi, Kaliopi;
Agakidou, Eleni;
Kohlhase, Jürgen;
Zafeiriou, Dimitrios

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

Different growth patterns in two siblings with Schimke immuno-osseous-dysplasia.

Published in:

Pediatric Nephrology, 2025, v. 40, n. 3, p. 701, doi. 10.1007/s00467-024-06503-5

By:

Bokenkamp, Arend;
Bouts, Antonia;
van der Weerd, Neeltje;
Levtchenko, Elena;
Haffner, Dieter;
Zivicnjak, Miroslav

Publication type:

Article

Generalized hypertrichosis after 5% minoxidil solution in trichorhinophalangeal syndrome: A case report and review of the literatures.

Published in:

Indian Journal of Dermatology, 2023, v. 68, n. 1, p. 112, doi. 10.4103/ijd.ijd_41_23

By:

Shin, Bong;
Kwak, Jun;
Choi, Hoon;
Na, Chan;
Kim, Min

Publication type:

Article

A de novo, novel frameshift deletion in Conradi-Hünermann-Happle syndrome with ten-year follow-up from birth.

Published in:

2022

By:

Peng, Jui-Hui;
Chen, Hui- Chun;
Chao, Sheau- Chiou

Publication type:

Case Study

Hand Radiographs in Skeletal Dysplasia: A Pictorial Review.

Published in:

Indian Journal of Radiology & Imaging, 2024, v. 34, n. 2, p. 291, doi. 10.1055/s-0043-1777320

By:

S., Dheeksha D.;
Chandola, Stuti;
Jain, Aayush;
Gupta, Neerja;
Kabra, Madhulika;
Jana, Manisha

Publication type:

Article

Ribbing disease.

Published in:

Indian Journal of Radiology & Imaging, 2010, v. 20, n. 1, p. 47, doi. 10.4103/0971-3026.59754

By:

Mukkada, Philson J.;
Franklin, Teenu;
Rajeswaran, Rangasami;
Joseph, Santhosh

Publication type:

Article

A rare cause of syndromic mitral valve prolapse.

Published in:

European Heart Journal - Cardiovascular Imaging, 2024, v. 25, n. 7, p. e184, doi. 10.1093/ehjci/jeae027

By:

Iturriagagoitia, Arthur;
Heggermont, Ward;
Camp, Guy Van

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

Features of Nine Adult Cases of Osteogenesis Imperfecta.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 52

By:

Kutbay, Nilüfer Özdemir;
Yürekli, Banu Şarer;
Keklik, Fatma;
Altun, İlker;
Erdoğan, Mehmet;
Çetinkalp, Şevki;
Özgen, A. Gökhan;
Gökşen, Damla;
Saygılı, L. Füsun

Publication type:

Article

Tracheobronchopathia osteochondroplastica following laryngeal tuberculosis.

Published in:

2017

By:

Mittal, Saurabh;
Jain, Akanksha;
Arava, Sudheer;
Guleria, Randeep;
Madan, Karan

Publication type:

Case Study

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

Orthodontic management of a patient with Schwartz-Jampel Syndrome.

Published in:

2018

By:

Bindayel, Naif A.

Publication type:

Case Study

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

Hiperostosis cortical postrauma. Presentación de un caso.

Published in:

Acta Ortopédica Mexicana, 2004, v. 18, n. 4, p. 160

By:

Harb, Eric J.;
Martínez, Noé

Publication type:

Article

Kniest dysplasia in girl aged 4 years: a case report.

Published in:

Paediatrica Indonesiana, 2024, v. 64, n. 6, p. 287, doi. 10.14238/pi64.6.2024.559-62

By:

Sahoo, Ipsita;
Jena, Nitish;
Dash, Mrutunjay;
Bisoi, Swarup

Publication type:

Article

Fibrochondrogenesis: Prenatal diagnosis and outcome.

Published in:

Journal of Obstetrics & Gynaecology, 2013, v. 33, n. 7, p. 665, doi. 10.3109/01443615.2013.817977

By:

Bekdache, G. N.;
Begam, M. A.;
Chedid, F.;
Al-Gazali, L.;
Mirghani, H.

Publication type:

Article