Works matching DE "MULTIPLE epiphyseal dysplasia"

Results: 179

COL9A1-related disorder with pectus carinatum, without epiphyseal dysplasia: case report and review of literature.

Published in:

2025

By:

Olarewaju, Bukola A.;
Alexander, Erin R.;
Crowe, Monica M.;
Dandurand, Kristina;
Melville, David;
Shamoun, Fadi;
Osundiji, Mayowa A.

Publication type:

Case Study

Anterior mediastinal tracheostomy with a median mandibular splitting approach in a Larsen syndrome patient with posterior cervical arthrodesis.

Published in:

2015

By:

Yonekura, Takeo;
Kamiyama, Masafumi;
Kimura, Kouki;
Morishita, Yuji;
Yamauchi, Katsuji;
Ishii, Tomohiro;
Yamaguti, Kazue;
Yokoyama, Shinya;
Yane, Katunari;
Ueda, Yoshio

Publication type:

journal article

Cartilage lesions of the glenohumeral joint: diagnostic effectiveness of multidetector spiral CT arthrography and comparison with arthroscopy.

Published in:

2007

By:

Lecouvet, Frédéric;
Dorzée, Benjamin;
Dubuc, Jean;
Berg, Bruno;
Jamart, Jacques;
Malghem, Jacques;
Lecouvet, Frédéric E;
Dorzée, Benjamin;
Dubuc, Jean E;
Vande Berg, Bruno C

Publication type:

journal article

Factors associated with health-related quality of life (HRQOL) in adults with short stature skeletal dysplasias.

Published in:

2017

By:

Dhiman, Nitasha;
Albaghdadi, Alia;
Sharma, Meesha;
Julie E. Hoover-Fong;
Ain, Michael C.;
Haider, Adil H.;
Zogg, Cheryl K.;
Hoover-Fong, Julie E

Publication type:

journal article

Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 4, p. 1, doi. 10.1002/mgg3.1630

By:

Gatticchi, Leonardo;
Vešelényiová, Dominika;
Miertus, Jan;
Enrico Maltese, Paolo;
Manara, Elena;
Costantini, Alisia;
Benedetti, Sabrina;
Ďurovčíková, Darina;
Krajcovic, Juraj;
Bertelli, Matteo

Publication type:

Article

Binder syndrome: a phenotype rather than a definitive diagnosis?

Published in:

2019

By:

Mazzone, E.;
Cos Sanchez, T.;
Persico, N.;
Cannie, M. M.;
Jani, J.;
Mazzone, Eleonora;
Cos Sanchez, Teresa;
Persico, Nicola;
Cannie, Mieke M;
Jani, Jacques

Publication type:

Case Study

Schimke immunoosseous dysplasia: defining skeletal features.

Published in:

2010

By:

Hunter, Kshamta B.;
Lücke, Thomas;
Spranger, Jürgen;
Smithson, Sarah F.;
Alpay, Harika;
André, Jean-Luc;
Asakura, Yumi;
Bogdanovic, Radovan;
Bonneau, Dominique;
Cairns, Robyn;
Cransberg, Karlien;
Fründ, Stefan;
Fryssira, Helen;
Goodman, David;
Helmke, Knut;
Hinkelmann, Barbara;
Lama, Guiliana;
Lamfers, Petra;
Loirat, Chantal;
Majore, Silvia

Publication type:

journal article

Novel RUNX2 frameshift mutations in Chinese patients with cleidocranial dysplasia.

Published in:

European Journal of Oral Sciences, 2013, v. 121, n. 3pt1, p. 142, doi. 10.1111/eos.12048

By:

Huang, Yanyu;
Song, Yaling;
Zhang, Chenzheng;
Chen, Guoxin;
Wang, Shihua;
Bian, Zhuan

Publication type:

Article

Review of Normal Anatomy and Common Pathologies in Dental Imaging.

Published in:

Hong Kong Journal of Radiology, 2018, v. 21, n. 3, p. 196, doi. 10.12809/hkjr1816853

By:

Cheng, J. H. M.;
Luk, S. Y.;
Tang, D. C. W.;
Tang, J. A. W. K.;
Lee, D. T. F.;
Tam, A. C. W.;
Leung, W. K. W.;
Kan, W. K.;
Khoo, J. L. S.

Publication type:

Article

Determinants of impaired quality of life in patients with fibrous dysplasia.

Published in:

2017

By:

Majoor, Bas C. J.;
Andela, Cornelie D.;
Bruggemann, Jens;
van de Sande, Michiel A. J.;
Kaptein, Ad A.;
Hamdy, Neveen A. T.;
Dijkstra, P. D. Sander;
Appelman-Dijkstra, Natasha M.

Publication type:

journal article

Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

Published in:

2016

By:

Morimoto, Marie;
Myung, Clara;
Beirnes, Kimberly;
Choi, Kunho;
Asakura, Yumi;
Bokenkamp, Arend;
Bonneau, Dominique;
Brugnara, Milena;
Charrow, Joel;
Colin, Estelle;
Davis, Amira;
Deschenes, Georges;
Gentile, Mattia;
Giordano, Mario;
Gormley, Andrew K;
Govender, Rajeshree;
Joseph, Mark;
Keller, Kory;
Lerut, Evelyne;
Levtchenko, Elena

Publication type:

journal article

The urinary levels of CTX-II, C2C, PYD, and Helix-II increased among adults with KBD: a cross-sectional study.

Published in:

Journal of Orthopaedic Surgery & Research, 2019, v. 14, n. 1, p. N.PAG, doi. 10.1186/s13018-019-1392-6

By:

Song, Quan Quan;
Sun, Li Yan;
Li, Chun Hui;
Liu, Yu Jiao;
Cui, Si Lu;
Liu, Yun Qi;
Cao, Yan Hong;
Pei, Jun Rui;
Wang, Yue;
Lian, Wei;
Jiao, Zhe;
Deng, Qing;
Yu, Jun

Publication type:

Article

Progressive pseudorheumatoid dysplasia confirmed by whole-exon sequencing in a Chinese adult before corrective surgery.

Published in:

Journal of Orthopaedic Surgery & Research, 2019, v. 14, n. 1, p. N.PAG, doi. 10.1186/s13018-019-1061-9

By:

Li, Yan;
Zeng, Yan;
Chen, Zhongqiang;
Xin, Haisong;
Li, Xiaoliang

Publication type:

Article

The levels of urine CTX-II, C2C, and PYD in children patients with Kashin-Beck disease in Qinghai Province of China.

Published in:

Journal of Orthopaedic Surgery & Research, 2019, v. 14, n. 1, p. N.PAG, doi. 10.1186/s13018-018-1057-x

By:

Wang, Wanying;
Wang, Lihua;
Deng, Qing;
Cai, Yun;
Wu, Xianhao;
Sun, Liyan

Publication type:

Article

Schwartz-Jampel syndrome with gastroduodenal bleeding.

Published in:

2016

By:

Polat, İpek;
Karaoğlu, Pakize;
Yiş, Uluç;
Kurul, Semra Hız

Publication type:

Case Study

Schwartz-Jampel syndrome.

Published in:

Journal of Pediatric Neurosciences, 2015, v. 10, n. 2, p. 169, doi. 10.4103/1817-1745.159202

By:

Chandra, Sadanandavalli Retnaswami;
Issac, Thomas Gregor;
Gayathri, N.;
Shivaram, Sumanth

Publication type:

Article

Synovial sarcoma presenting as an intra-articular mass in a pediatric patient: a case report.

Published in:

2020

By:

Al-Mohrej, Omar A.;
Al-Jarallah, Saeed A.;
Al-Dakhil Allah, Hamad H.;
Pant, Rajeev;
Al-Zayed, Zayed S.

Publication type:

journal article

A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysplasia: a case report.

Published in:

2020

By:

Ho, Thuong Thi;
Tran, Linh Huyen;
Hoang, Lan Thu;
Doan, Phuong Kim Thi;
Nguyen, Trang Thi;
Nguyen, Trang Hong;
Tran, Hoai Thu;
Hoang, Ha;
Chu, Ha Hoang;
Luong, Anh Lan Thi

Publication type:

journal article

XBP1 signalling is essential for alleviating mutant protein aggregation in ER-stress related skeletal disease.

Published in:

PLoS Genetics, 2019, v. 15, n. 7, p. 1, doi. 10.1371/journal.pgen.1008215

By:

Pirog, Katarzyna A.;
Dennis, Ella P.;
Hartley, Claire L.;
Jackson, Robert M.;
Soul, Jamie;
Schwartz, Jean-Marc;
Bateman, John F.;
Boot-Handford, Raymond P.;
Briggs, Michael D.

Publication type:

Article

Discrepancy between bone density and bone material strength index in three siblings with Camurati-Engelmann disease.

Published in:

Osteoporosis International, 2017, v. 28, n. 12, p. 3489, doi. 10.1007/s00198-017-4198-6

By:

Diez-Perez, A.;
Herrera, S.;
Soriano, R.;
Nogués, X.;
Güerri-Fernandez, R.;
García-Giralt, N.;
Castejón, S.;
González-Lizarán, A.;
Grinberg, D.;
Martínez-Gil, N.;
Balcells, S.

Publication type:

Article

Multiple diaphyseal sclerosis (Ribbing disease): what about neridronate?

Published in:

Osteoporosis International, 2016, v. 27, n. 10, p. 3127, doi. 10.1007/s00198-016-3604-9

By:

Carlo, M.;
Silveri, F.;
Tardella, M.;
Carotti, M.;
Salaffi, F.

Publication type:

Article

Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery.

Published in:

Osteoporosis International, 2014, v. 25, n. 2, p. 407, doi. 10.1007/s00198-013-2443-1

By:

Lazarus, S.;
Zankl, A.;
Duncan, E.

Publication type:

Article

Adrenal Hipoplazi ve İskelet Displazisi Birlikteliği: İMAGe Sendromu.

Published in:

Journal of Current Pediatrics / Guncel Pediatri, 2018, v. 16, n. 3, p. 134, doi. 10.4274/jcp.2018.0050

By:

Direk, Gül;
Şiraz, Ülkü Gül;
Tatlı, Zeynep Uzan;
Akın, Leyla;
Hatipoğlu, Nihal;
Kendirci, Mustafa;
Kurtoğlu, Selim

Publication type:

Article

Trikorinofalangeal sendromlu bir olgu.

Published in:

Archives of the Turkish Dermatology & Venerology / Turkderm, 2014, v. 48, n. 3, p. 156, doi. 10.4274/turkderm.71363

By:

Şanlı, Hatice Erdi;
Parlak, Nehir;
Akay, Bengü Nisa;
Ruhi, Hatice Ilgın;
Öktem, Başak

Publication type:

Article

Tricho-Rhino-Phalangeal Syndrome is a Rare Presentation of Brachydactyly.

Published in:

Turkish Journal of Endocrinology & Metabolism, 2018, v. 22, n. Supp, p. S65, doi. 10.25179/tjem.20182202-P204

By:

Karaca, Anara;
Taşkaldiran, Işılay;
Omma, Tülay;
Gülçelik, Neşe Ersöz;
Baştepe, Murat

Publication type:

Article

The favorable outcome of Bernese periacetabular osteotomy for the hip osteoarthritis in multiple epiphyseal dysplasia.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02920-1

By:

Chang, Yao-Yuan;
Lee, Chia-Che;
Lin, Sheng-Chieh;
Kuo, Ken N.;
Chang, Jia-Feng;
Wu, Kuan-Wen;
Wang, Ting-Ming

Publication type:

Article

Ribbing disease: a systematic review.

Published in:

2018

By:

Pijls, Bart G.;
Steentjes, Koen;
Schoones, Jan W.;
Dijkstra, Sander P. D.;
Dijkstra, Sander Pd

Publication type:

journal article

Camurati-Engelmann disease. Review of radioclinical features.

Published in:

2003

By:

Vanhoenacker, F M;
Janssens, K;
Van Hul, W;
Gershoni-Baruch, R;
Brik, R;
De Schepper, A M

Publication type:

journal article

Consideration of care in a preterm neonate with an extremely rare skeletal dysplasia.

Published in:

Infant, 2021, v. 17, n. 2, p. 64

By:

Parmenter, Kate F.;
Cooke, Katarzyna A.;
Penny, Amelia;
Ohadike, Pamela;
Mattara, Abdul

Publication type:

Article

Schimke immuno-osseous dysplasia: A case report.

Published in:

Indian Journal of Nephrology, 2019, v. 29, n. 4, p. 291, doi. 10.4103/ijn.IJN_95_18

By:

Babaei, Amir;
Inaloo, Soroor;
Basiratnia, Mitra

Publication type:

Article

Schwartz-Jampel Syndrome Mimicking Myotonia Congenita.

Published in:

2019

By:

Padmanabha, Hansashree;
Mathew, Thomas;
Manjusha T.;
Manjusha, T

Publication type:

Case Study

A review of skeletal dysplasia research in India.

Published in:

Journal of Postgraduate Medicine, 2018, v. 64, n. 2, p. 98, doi. 10.4103/jpgm.JPGM_527_17

By:

Uttarilli, A;
Shah, H;
Shukla, A;
Girisha, K

Publication type:

Article

Unusual presentation of chondroblastoma mimicking Trevor's disease.

Published in:

2017

By:

Nair A. V.;
Anirudh S.

Publication type:

Letter to the Editor

General Movements and Developmental Functioning in an Individual with Rhizomelic Chondrodysplasia Punctata within the First Months of the Life: A Case Report.

Published in:

Physical & Occupational Therapy in Pediatrics, 2021, v. 41, n. 3, p. 326, doi. 10.1080/01942638.2020.1841870

By:

Yardımcı-Lokmanoğlu, Bilge Nur;
Mutlu, Akmer;
Livanelioğlu, Ayşe

Publication type:

Article

A comparative study of clinical effect of total knee arthroplasty in the treatment of primary osteoarthritis and osteoarthritis of Kashin-Beck disease.

Published in:

2020

By:

Liu, Hui-Min;
Wang, Ya-Fei;
Wu, Jian-Min;
Li, Bo-Yuan;
Dong, Feng;
Lu, Dai-Feng;
Li, Hong-Xi;
Zhang, Zhi-Tao;
Yu, Cong;
Lian, Yong-Yun

Publication type:

journal article

Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin Dysplasias.

Published in:

BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/861752

By:

Shuji Mizumoto;
Shuhei Yamada;
Kazuyuki Sugahara

Publication type:

Article

Sequence variants in <italic>GDF5</italic> and <italic>TRPS1</italic> underlie brachydactyly and tricho‐rhino‐phalangeal syndrome type III.

Published in:

Pediatrics International, 2018, v. 60, n. 3, p. 304, doi. 10.1111/ped.13473

By:

Ullah, Asmat;
Umair, Muhammad;
Hussain, Shabir;
Jan, Abid;
Ahmad, Wasim

Publication type:

Article

Treatment of cartilage-hair hypoplasia with recombinant human growth hormone.

Published in:

Pediatrics International, 2013, v. 55, n. 6, p. e162, doi. 10.1111/ped.12215

By:

Obara‐Moszynska, Monika;
Wielanowska, Weronika;
Rojek, Aleksandra;
Wolnik‐Brzozowska, Danuta;
Niedziela, Marek

Publication type:

Article

Novel CTSK mutation resulting in an entire exon 2 skipping in a Thai girl with pycnodysostosis.

Published in:

Pediatrics International, 2013, v. 55, n. 5, p. 651, doi. 10.1111/ped.12091

By:

Utokpat, Pattarapa;
Panmontha, Wipa;
Tongkobpetch, Siraprapa;
Suphapeetiporn, Kanya;
Shotelersuk, Vorasuk

Publication type:

Article

Clinical spectrum of cleidocranial dysplasia in a family with twins.

Published in:

Pediatrics International, 2013, v. 55, n. 3, p. 392, doi. 10.1111/ped.12043

By:

Wang, Jiangping;
Huang, Xinwen;
Lai, Can;
Jiang, Kewen

Publication type:

Article

Tracheobronchopathia Osteochondroplastica: Five Cases Report and Literature Review.

Published in:

ENT: Ear, Nose & Throat Journal, 2020, v. 99, n. 10, p. NP111, doi. 10.1177/0145561319897982

By:

Wang, Weifang;
Hu, Hong;
Liu, Mei;
Wang, Jianxin

Publication type:

Article

Pycnodysostosis in an Adult: A Case Report and Review of the Literature.

Published in:

2019

By:

Gray, Mingyang L.;
Su, Andres;
Cruciata, Giuseppe;
Som, Peter M.

Publication type:

Case Study

An unusual cause of nephrotic syndrome: Questions.

Published in:

2019

By:

Yildirim, Zeynep Yuruk;
Ozkan, Melis;
Yilmaz, Alev;
Kayserili, Hülya;
Pehlivanoglu, Cemile;
Emre, Sevinc;
Nayir, Ahmet

Publication type:

Case Study

An unusual cause of nephrotic syndrome: Answers.

Published in:

2019

By:

Yuruk Yildirim, Zeynep;
Ozkan, Melis;
Yilmaz, Alev;
Kayserili, Hülya;
Pehlivanoglu, Cemile;
Emre, Sevinc;
Nayir, Ahmet

Publication type:

Case Study

Orthodontic Treatment in a Patient With Kniest Dysplasia: A Case Study and Review of Literature.

Published in:

Cleft Palate Craniofacial Journal, 2019, v. 56, n. 10, p. 1393, doi. 10.1177/1055665619854617

By:

Jhamb, Tania;
Masood, Hayat;
Arigo, Jeffrey;
Rossouw, P. Emile

Publication type:

Article

Metaphyseal chondrodysplasia.

Published in:

1977

By:

Spranger, J. W.

Publication type:

journal article

Cartilage hair hypoplasia.

Published in:

1977

By:

Siggers, D. C.;
Burke, J. B.;
Morris, B.;
Normand, I. C.;
Tanner, J. M.;
Williamson, D. A.

Publication type:

journal article

Emopamil Binding Protein Mutation in Conradi‑Hünermann‑Happle Syndrome Representing Plaque‑Type Psoriasis.

Published in:

Indian Journal of Dermatology, 2015, v. 60, n. 2, p. 1, doi. 10.4103/0019-5154.152570

By:

Ozyurt, Kemal;
Subasioglu, Asli;
Ozturk, Perihan;
Inci, Rahime;
Ozkan, Fuat;
Bueno, Elena;
Cañueto, Javier;
González‑Sarmiento, Rogelio

Publication type:

Article

Spine radiograph in dysplasias: A pictorial essay.

Published in:

Indian Journal of Radiology & Imaging, 2020, v. 30, n. 4, p. 436, doi. 10.4103/ijri.IJRI_395_20

By:

Gabra, Pavan;
Jana, Manisha;
Naranje, Priyanka;
Gupta, Neerja;
Kabra, Madhulika;
Gupta, Arun;
Yadav, Richa

Publication type:

Article

Mimics of bone tumors.

Published in:

2015

By:

Aswani, Yashant;
Anandpara, Karan Manoj;
Hira, Priya

Publication type:

Letter to the Editor