Works matching DE "MULTIPLE epiphyseal dysplasia"

Results: 179

Monostotic Giant Fibrous Dysplasia Excised by Two Different Minimal Incisions (Tunnel Method).

Published in:

Indian Journal of Surgery, 2021, v. 83, n. 6, p. 1542, doi. 10.1007/s12262-020-02688-9

By:

Hakki, Ulutas;
Reha, Celik M.;
Mehmet, Agar;
Saadet, Alan

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

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

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

Pulmonary embolism--a rare complication of Schimke immunoosseous dysplasia.

Published in:

2007

By:

Sauerstein, K.;
Schroth, M.;
Amann, K.;
Hoyer, J.;
Singer, H.;
Rauch, A.;
Dötsch, J.;
Dötsch, J

Publication type:

journal article

Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases.

Published in:

2007

By:

Garnier, Arnaud;
Dauger, Stéphane;
Eurin, Danièle;
Parisi, Ida;
Parenti, Giancarlo;
Garel, Catherine;
Delbecque, Katy;
Baumann, Clarisse;
Dauger, Stéphane;
Eurin, Danièle

Publication type:

journal article

Follicular atrophoderma associated with skeletal defects, cataracts, and alopecia.

Published in:

2001

By:

Hwong, Heidi K.;
Lewis, Alan T.;
Hsu, Sylvia;
Hwong, H K;
Lewis, A T;
Hsu, S

Publication type:

journal article

Cerebellar defect associated with Schimke immuno-osseous dysplasia.

Published in:

2001

By:

Dhillon, Amrit S.;
Chapman, Stephen;
Milford, David V.;
Dhillon, A S;
Chapman, S;
Milford, D V

Publication type:

journal article

Multiple Osteochondritis Dissecans as Main Manifestation of Multiple Epiphyseal Dysplasia Caused by a Novel Cartilage Oligomeric Matrix Protein Pathogenic Variant: A Clinical Report.

Published in:

Genes, 2024, v. 15, n. 11, p. 1490, doi. 10.3390/genes15111490

By:

Mazzotti, Antonio;
Artioli, Elena;
Brizola, Evelise;
Moroni, Alice;
Tremosini, Morena;
Di Cecco, Alessia;
Gallone, Salvatore;
Faldini, Cesare;
Sangiorgi, Luca;
Gnoli, Maria

Publication type:

Article

Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4.

Published in:

Genes, 2022, v. 13, n. 9, p. 1512, doi. 10.3390/genes13091512

By:

Markova, Tatiana;
Kenis, Vladimir;
Melchenko, Evgenii;
Alieva, Aynur;
Nagornova, Tatiana;
Orlova, Anna;
Ogorodova, Natalya;
Shchagina, Olga;
Polyakov, Alexander;
Dadali, Elena;
Kutsev, Sergey

Publication type:

Article

SLC26A2 -Associated Diastrophic Dysplasia and rMED—Clinical Features in Affected Finnish Children and Review of the Literature.

Published in:

Genes, 2021, v. 12, n. 5, p. 714, doi. 10.3390/genes12050714

By:

Härkönen, Helmi;
Loid, Petra;
Mäkitie, Outi;
Comas, Susanna Balcells

Publication type:

Article

Successful transcarotid transcatheter aortic valve replacement in a 34-kg patient with Schimke immuno-osseous dysplasia and severe biscuspid aortic stenosis.

Published in:

2018

By:

Sullivan, Katie E. O’;
Griffin, Alan P.;
Casserly, Ivan P.;
Sullivan, Katie E O'

Publication type:

journal article

Şiddetli seyirli Schimke immün-kemik displazili olgu sunumu.

Published in:

Türk Pediatri Arşivi, 2012, v. 47, n. 4, p. 319, doi. 10.4274/tpa.357

By:

Candan, Cengiz;
Yılmaz, Yüksel;
Alanay, Yasemin;
Turhan, Pınar;
Candan, Fatma;
Ergüven, Müferet

Publication type:

Article

Wolcott-Rallison syndrome: a case series of three patients.

Published in:

2022

By:

Memon, Fozia;
Arif, Muzna;
Kirmani, Salman;
Humayun, Khadija N.

Publication type:

Case Study

Hypophosphatemia with elevations in serum fibroblast growth factor 23 in a child with Jansen's metaphyseal chondrodysplasia.

Published in:

2009

By:

Brown, Whitney W;
Jüppner, Harald;
Langman, Craig B;
Price, Heather;
Farrow, Emily G;
White, Kenneth E;
McCormick, Kenneth L

Publication type:

journal article

Total hip replacement in adult patients with severe Kashin-Beck disease of the hip.

Published in:

2016

By:

Xin Tang;
Jing Zhu;
Zongke Zhou;
Bin Shen;
Pengde Kang;
Fuxing Pei;
Jian Li;
Tang, Xin;
Zhu, Jing;
Zhou, Zongke;
Shen, Bin;
Kang, Pengde;
Pei, Fuxing;
Li, Jian

Publication type:

journal article

Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report.

Published in:

2014

By:

Changhoon Jeong;
Jae Young Lee;
Jiyeon Kim;
Hyojin Chae;
Hae-il Park;
Myungshin Kim;
Ok-Hwa Kim;
Paul Kim;
Young Kee Lee;
Jongsun Jung

Publication type:

Case Study

Chondrodysplasia Punctata with Severe Airway Stenosis.

Published in:

Indian Journal of Critical Care Medicine, 2018, v. 22, n. 7, p. 552, doi. 10.4103/ijccm.IJCCM_105_18

By:

Deepthi, Bobbity;
Chhapola, Viswas;
Kanwal, Sandeep Kumar;
Sharma, Ankita Goel;
Kumar, Virendra

Publication type:

Article

A case of Marshall's syndrome (postinflammatory elastolysis).

Published in:

2017

By:

Yürekli, Aslan;
Açıkgöz, Gürol;
Can, İlkay;
Çalışkan, Ercan;
Yavan, İbrahim

Publication type:

Case Study

Prenatal diagnosis for Schmid metaphyseal chondrodysplasia in twins.

Published in:

1998

By:

Milunsky, Jeff;
Maher, Thomas;
Lebo, Roger;
Milunsky, Aubrey;
Milunsky, J;
Maher, T;
Lebo, R;
Milunsky, A

Publication type:

journal article

Brief Report: Genome-Wide Association Study Identifies ITPR2 as a Susceptibility Gene for Kashin-Beck Disease in Han Chinese.

Published in:

Arthritis & Rheumatology, 2015, v. 67, n. 1, p. 176, doi. 10.1002/art.38898

By:

Zhang, Feng;
Wen, Yan;
Guo, Xiong;
Zhang, Yingang;
Wang, Xi;
Yang, Tielin;
Shen, Hui;
Chen, Xiangding;
Tian, Qing;
Deng, Hong‐Wen

Publication type:

Article

A172: Metaphyseal Chondrodysplasia, Ectodermal Dysplasia, Short Stature, Hypergammaglobulinemia, and Spontaneous Inflammation Without Infections in an Extended Family Due to Mutation in NFKB1A.

Published in:

Arthritis & Rheumatology, 2014, v. 66, p. S224, doi. 10.1002/art.38598

By:

Oberle, Edward J.;
Verbsky, James W.;
Routes, John;
Hintermeyer, Mary;
Worthey, Elizabeth;
Dasu, Trivikram;
Bengtson, Christine;
Buzzell, Alyssa

Publication type:

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

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

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

Cleidocranial Dysplasia: A Rare Cause of Disproportionate Severe Short Stature.

Published in:

Oman Medical Journal, 2012, v. 27, n. 5, p. 408, doi. 10.5001/omj.2012.99

By:

Bhat, Manzoor Ahmad;
Laway, Bashir Ahmad;
Mantoo, Suhail;
Choudry, Khalid;
Kotwal, Suman;
Mir, Shahnaz Ahmad

Publication type:

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

Mild Myopathy Is Associated with COMP but Not MATN3 Mutations in Mouse Models of Genetic Skeletal Diseases.

Published in:

PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0082412

By:

Piróg, Katarzyna A.;
Katakura, Yoshihisa;
Mironov, Aleksandr;
Briggs, Michael D.

Publication type:

Article

Joint Space Widening in Multiple Epiphyseal Dysplasia.

Published in:

Deutsches Ärzteblatt International, 2023, v. 120, n. 48, p. 2, doi. 10.3238/arztebl.m2023.0020

By:

Madry, Henning

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

Ehlers-Danlos syndrome versus cleidocranial dysplasia.

Published in:

Italian Journal of Pediatrics, 2014, v. 40, n. 1, p. 1, doi. 10.1186/1824-7288-40-49

By:

Bedeschi, Maria Francesca;
Bonarrigo, Francesca;
Manzoni, Francesca;
Milani, Donatella;
Piemontese, Maria Rosaria;
Guez, Sophie;
Esposito, Susanna

Publication type:

Article

A novel compound heterozygous mutation of the SMARCAL1 gene leading to mild Schimke immune-osseous dysplasia: a case report.

Published in:

2017

By:

Shuaimei Liu;
Mingchao Zhang;
Mengxia Ni;
Peiran Zhu;
Xinyi Xia;
Liu, Shuaimei;
Zhang, Mingchao;
Ni, Mengxia;
Zhu, Peiran;
Xia, Xinyi

Publication type:

journal article

Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report.

Published in:

2017

By:

Jing Chen;
Xiaomin Ma;
Yulin Zhou;
Guimei Li;
Qiwei Guo;
Chen, Jing;
Ma, Xiaomin;
Zhou, Yulin;
Li, Guimei;
Guo, Qiwei

Publication type:

journal article

Making Waves: A Child With Skeletal Dysplasia Treated Using Aquatic Therapy Principles.

Published in:

Journal of Aquatic Physical Therapy, 2018, v. 26, n. 1, p. 36

By:

White, Allison K.;
Nelson, Kelly

Publication type:

Article

Bioarchaeological insights into disability: Skeletal dysplasia from the Iron Age northern China.

Published in:

International Journal of Osteoarchaeology, 2022, v. 32, n. 2, p. 367, doi. 10.1002/oa.3071

By:

Zhou, Yawei;
Lu, Yiping;
He, Jianing;
Li, Ziyi;
Zhang, Xiangyu;
Zhang, Qun;
Yeh, Hui‐yuan

Publication type:

Article

Multiple epiphyseal dysplasia mimicking osteoarthritis due to acetabular dysplasia: A report of a familial case with a COMP mutation.

Published in:

2017

By:

Sakamoto, Yuma;
Yamamoto, Takuaki;
Kajino, Yoshitomo;
Kabata, Tamon;
Tsuchiya, Hiroyuki;
Miyake, Noriko;
Iwamoto, Yukihide;
Matsumoto, Naomichi;
Ikegawa, Shiro

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

Progressive pseudorheumotoid dysplasia: A presentation of four cases with slow and rapid progression and effects of early rehabilitation program.

Published in:

Turkish Journal of Physical Medicine & Rehabilitation (2587-1250), 2019, v. 65, n. 3, p. 290, doi. 10.5606/tftrd.2019.2694

By:

Giray, Esra;
Yağcı, İlker;
Elçioğlu, Huriye Nursel

Publication type:

Article

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

Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia.

Published in:

Clinical Genetics, 2018, v. 93, n. 1, p. 182, doi. 10.1111/cge.13091

By:

Tariq, M.;
Khan, T. N.;
Lundin, L.;
Jameel, M.;
Lönnerholm, T.;
Baig, S. M.;
Dahl, N.;
Klar, J.

Publication type:

Article

Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.

Published in:

2021

By:

Scocchia, Alicia;
Kangas-Kontio, Tiia;
Irving, Melita;
Hero, Matti;
Saarinen, Inka;
Pelttari, Liisa;
Gall, Kimberly;
Valo, Satu;
Huusko, Johanna M.;
Tallila, Jonna;
Sistonen, Johanna;
Koskenvuo, Juha;
Alastalo, Tero-Pekka

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

A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review.

Published in:

2017

By:

Sung-Ju Hsueh;
Ni-Chung Lee;
Shu-Hua Yang;
Han-I Lin;
Chin-Hsien Lin;
Hsueh, Sung-Ju;
Lee, Ni-Chung;
Yang, Shu-Hua;
Lin, Han-I;
Lin, Chin-Hsien

Publication type:

journal article

A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01040-y

By:

Shao, Jiashen;
Zhao, Sen;
Yan, Zihui;
Wang, Lianlei;
Zhang, Yuanqiang;
Lin, Mao;
Yu, Chenxi;
Wang, Shengru;
Niu, Yuchen;
Li, Xiaoxin;
Qiu, Guixing;
Zhang, Jianguo;
Wu, Zhihong;
Wu, Nan

Publication type:

Article

MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).

Published in:

2005

By:

Kennedy, Ann M.;
Inada, Masaki;
Krane, Stephen M.;
Christie, Paul T.;
Harding, Brian;
López-Otín, Carlos;
Sánchez, Luis M.;
Pannett, Anna A. J.;
Dearlove, Andrew;
Hartley, Claire;
Byrne, Michael H.;
Reed, Anita A. C.;
Nesbit, M. Andrew;
Whyte, Michael P.;
Thakker, Rajesh V.;
López-Otín, Carlos;
Sánchez, Luis M

Publication type:

journal article

A Rare Case of Monostotic Spinal Fibrous Dysplasia Mimicking Solitary Metastatic Lesion of Thyroid Carcinoma.

Published in:

Malaysian Journal of Medical Sciences, 2016, v. 23, n. 1, p. 82

By:

Sharifudin, Mohd Ariff;
Amin, Mohamed Azril Mohamed;
Zakaria, Zamzuri;
Awang, Mohamed Saufi;
Aziz, Azian Abd

Publication type:

Article

Novel use of the Cochlear<sup>®</sup> Hybrid CI24REH cochlear implant.

Published in:

2018

By:

Atiya, Yahya;
Ahmed, Mohamed Razwi;
Schlesinger-Michelow, Dani

Publication type:

journal article