Works matching DE "SKELETAL dysplasia"

Results: 564

Case Report: Successful treatment of spondyloenchondrodysplasia with immune dysregulation using tofacitinib and ruxolitinib: a report of two pediatric cases.

Published in:

Frontiers in Pharmacology, 2025, p. 1, doi. 10.3389/fphar.2025.1588003

By:

Liu, Chengzhu;
Xie, Zhiwei;
Wang, Min;
Chu, Jinhua;
Yang, Linhai;
Zhang, Kunlong;
Huang, Lingling;
Tu, Songji;
Cai, Huaju;
Wu, Zhengyu;
Wang, Liyuan;
Wang, Ningling

Publication type:

Article

STUDY ON THE IMPACT OF PHYSICAL THERAPY ON THE QUALITY OF LIFE IN PATIENTS WITH OMBRÉDANNE SYNDROME.

Published in:

Sport & Society / Sport si Societate, 2025, v. 25, n. 1, p. 452

By:

Elena, Rabolu;
Cristina, Neagoe Ioana;
Geanina, Toma;
Ștefan, Toma

Publication type:

Article

Expanding the Genotypic and Phenotypic Spectrum of P3H1 Related Osteogenesis Imperfecta.

Published in:

Calcified Tissue International, 2025, v. 116, n. 1, p. 1, doi. 10.1007/s00223-025-01418-1

By:

Kındış, Erdem;
Avcı Durmuşaliğlu, Enise;
Eviz, Elif

Publication type:

Article

Identification of NPR2 gene mutations affecting chondrocyte differentiation in short stature through JAK2-STAT5.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03936-5

By:

Wei, Shuoshuo;
He, Mingming;
Zhang, Chuanpeng;
Li, Yanying;
Zhang, Mei;
Hou, Xinguo;
Ban, Bo;
Zhao, Qianqian

Publication type:

Article

Identification of NPR2 gene mutations affecting chondrocyte differentiation in short stature through JAK2-STAT5.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03936-5

By:

Wei, Shuoshuo;
He, Mingming;
Zhang, Chuanpeng;
Li, Yanying;
Zhang, Mei;
Hou, Xinguo;
Ban, Bo;
Zhao, Qianqian

Publication type:

Article

The Novel NP Angle—The Ultimate Panacea for Evaluating the Sagittal Skeletal Dysplasia in Orthodontics: A Retrospective Study.

Published in:

World Journal of Dentistry, 2025, v. 16, n. 6, p. 517, doi. 10.5005/jp-journals-10015-2579

By:

Kiran, Priti;
Sahoo, Nivedita;
Sam, George;
Kaki, Abdulmajeed M.;
Vannala, Venkataramana;
Penumatsa, Narendra V.

Publication type:

Article

A case series of peripheral nerve blocks in pediatrics and young adults with skeletal dysplasia.

Published in:

Pediatric Anesthesia, 2016, v. 26, n. 5, p. 553, doi. 10.1111/pan.12875

By:

Eiszner, James R.;
Atanda, Alfred;
Rangavajjula, Ashwin;
Theroux, Mary;
Bosenberg, Adrian

Publication type:

Article

PHENOTYPIC HETEROGENEITY IN TERMINAL OSSEOUS DYSPLASIA: ELUCIDATING THE ROLE OF TWO FLNA VARIANTS.

Published in:

Genetics & Applications, 2023, p. 56

By:

Belma, Mutapčić;
Lejla, Delalić;
Emina, Džidić;
Merima, Kljajić

Publication type:

Article

RUNX2 is essential for maintaining synchondrosis chondrocytes and cranial base growth.

Published in:

Bone Research, 2025, v. 13, n. 1, p. 1, doi. 10.1038/s41413-025-00426-z

By:

Hallett, Shawn A.;
Dixon, Ashley;
Marrale, Isabella;
Batoon, Lena;
Brenes, José;
Zhou, Annabelle;
Arbiv, Ariel;
Kaartinen, Vesa;
Allen, Benjamin;
Ono, Wanida;
Franceschi, Renny T.;
Ono, Noriaki

Publication type:

Article

A CASE REPORT OF RECURRENT MESOMELIA SYNDROME.

Published in:

Indian Obstetrics & Gynaecology, 2024, v. 14, n. 4, p. 21

By:

Jamal, Shehla;
Singh, Vinamrata;
Sharma, Mridula

Publication type:

Article

Akondroplazili Hastada Oligivie Sendromu Kaynaklı İleus Nedeniyle Gerçekleşen Operasyondaki Anestezi Yönetimi.

Published in:

Journal of Anesthesia / Anestezi Dergisi (JARSS), 2025, v. 33, n. 1, p. 79

By:

Üresin, Erce Can;
Güleser, Nurcan Özaslan;
Argun, Güldeniz

Publication type:

Article

Pathogenic variants of sphingomyelin synthase SMS2 disrupt lip.

Published in:

eLife, 2022, p. 1, doi. 10.7554/eLife.79278

By:

Sokoya, Tolulope;
Parolek, Jan;
Møller Foged, Mads;
Danylchuk, Dmytro I.;
Bozan, Manuel;
Sarkar, Bingshati;
Hilderink, Angelika;
Philippi, Michael;
Botto, Lorenzo D.;
Terhal, Paulien A;
Mäkitie, Outi;
Piehler, Jacob;
Kim, Yeongho;
Burd, Christopher G.;
Klymchenko, Andrey S.;
Maeda, Kenji;
Holthuis, Joost C. M.

Publication type:

Article

Oligogenic Inheritance of Monoallelic TRIP11 , FKBP10 , NEK1 , TBX5 , and NBAS Variants Leading to a Phenotype Similar to Odontochondrodysplasia.

Published in:

Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.680838

By:

Costantini, Alice;
Valta, Helena;
Suomi, Anne-Maarit;
Mäkitie, Outi;
Taylan, Fulya

Publication type:

Article

Identification and Tissue-Specific Characterization of Novel SHOX-Regulated Genes in Zebrafish Highlights SOX Family Members Among Other Genes.

Published in:

Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.688808

By:

Hoffmann, Sandra;
Roeth, Ralph;
Diebold, Sabrina;
Gogel, Jasmin;
Hassel, David;
Just, Steffen;
Rappold, Gudrun A.

Publication type:

Article

Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center Experience.

Published in:

Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.670608

By:

Kim, Su Jin;
Lee, Sae-Mi;
Choi, Jong-Moon;
Jang, Ja-Hyun;
Kim, Hyun Gi;
Kim, Jung-Taek;
Cho, Jae Ho;
Sohn, Young Bae

Publication type:

Article

Characterization of Two Loss-of-Function NF1 Variants in Chinese Patients and Potential Molecular Interpretations of Phenotypes.

Published in:

Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.660592

By:

Zhang, Tingting;
Han, Tianting;
Dong, Zhiya;
Li, Chuanyin;
Lu, Wenli

Publication type:

Article

Whole Exome Sequencing Aids the Diagnosis of Fetal Skeletal Dysplasia.

Published in:

Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.599863

By:

Tang, Hui;
Zhang, Qin;
Xiang, Jingjing;
Yin, Linliang;
Wang, Jing;
Wang, Ting

Publication type:

Article

Case Report: Exome Sequencing Identified a Novel Compound Heterozygous Variation in PLOD2 Causing Bruck Syndrome Type 2.

Published in:

Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.619948

By:

Zhang, Jing;
Hu, Huaying;
Mu, Weihong;
Yu, Mei;
Chen, Wenqi;
Mi, Dongqing;
Yang, Kai;
Guo, Qing

Publication type:

Article

Novel Compound Heterozygous Mutations in CRTAP Cause Rare Autosomal Recessive Osteogenesis Imperfecta.

Published in:

Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.00897

By:

Tang, Yen-An;
Wang, Lin-Yen;
Chang, Chiao-May;
Lee, I-Wen;
Tsai, Wen-Hui;
Sun, H. Sunny

Publication type:

Article

Continuous Spinal Anaesthesia for Intertrochanteric Femur Fracture in a Patient with Skeletal Dysplasia.

Published in:

Case Reports in Anesthesiology, 2021, p. 1, doi. 10.1155/2021/6644894

By:

Khakurel, Sharad;
Yadav, Rupesh Kumar

Publication type:

Article

THE SKELETAL MORPHOLOGIC STRUCTURE OF OPENBITE IN ADULT PAKISTANI SAMPLE.

Published in:

Pakistan Oral & Dental Journal, 2014, v. 34, n. 2, p. 304

By:

CHEEMA, JAVERIA ASIF;
HAMEED, WAHEED UL

Publication type:

Article

Metatropic Dysplasia of Nonlethal Variant in a Chinese Child – A Case Report.

Published in:

Orthopaedic Surgery, 2020, v. 12, n. 1, p. 333, doi. 10.1111/os.12546

By:

Tchio Tchoumba, Michele A;
Bai, Yan;
Jin, Runming;
Yu, Xianying;
Male, Musa

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

Fetal autopsy: Clinicopathologic correlation in consecutive cases.

Published in:

Asian Journal of Medical Sciences, 2024, v. 15, n. 9, p. 112, doi. 10.71152/ajms.v15i9.561

By:

V., Shunmuga Priya;
M., Revathy;
K., Chandramouleeswari

Publication type:

Article

CLEIDOCRANIAL DYSPLASIA: A CASE REPORT.

Published in:

2017

By:

Butnariu, Lăcrămioara Ionela;
Rusu, Cristina;
Pânzaru, Monica;
Caba, Lavinia;
Popescu, Roxana;
Gorduza, Eusebiu Vlad

Publication type:

Case Study

Jeune Syndrome.

Published in:

British Journal of Medical Practitioners, 2013, v. 6, n. 2, p. 1

By:

Ramya, H. S.;
Sushanth;
Manjunath, M. N.

Publication type:

Article

Phenotyping CHST3 skeletal dysplasia from freezer-induced urine sediments.

Published in:

Australian Journal of Chemistry, 2023, v. 76, n. 6-8, p. 476, doi. 10.1071/CH23041

By:

Moh, Edward S. X.;
Zankl, Andreas;
Packer, Nicolle H.

Publication type:

Article

Australian guidelines for the management of children with achondroplasia.

Published in:

Journal of Paediatrics & Child Health, 2023, v. 59, n. 2, p. 229, doi. 10.1111/jpc.16290

By:

Tofts, Louise J;
Armstrong, Jennifer A;
Broley, Stephanie;
Carroll, Theresa;
Ireland, Penelope J;
Koo, Minna;
Langdon, Katherine;
McGregor, Lesley;
McKenzie, Fiona;
Mehta, Divyesh;
Savarirayan, Ravi;
Tate, Tracy;
Wesley, Alison;
Zankl, Andreas;
Jenner, Maree;
Eyles, Marta;
Pacey, Verity

Publication type:

Article

The funny-looking shoulders.

Published in:: 2021
Publication type:: journal article

早期诊断和治疗对于改善软骨发育不全患儿身高结局的意义和思考.

Published in:

Chinese Journal of Contemporary Pediatrics, 2025, v. 27, n. 3, p. 262, doi. 10.7499/j.issn.1008-8830.2410107

By:

李黎;
熊丰

Publication type:

Article

不同基因突变致肾单位肾痨及相关综合征患儿临床表型特点及基因分析.

Published in:

Chinese Journal of Contemporary Pediatrics, 2023, v. 25, n. 8, p. 831, doi. 10.7499/j.issn.1008-8830.2303020

By:

赵雪;
蒋丽君;
戎赞华;
窦志艳;
苏庆晓;
梁钰珩;
齐兴杰

Publication type:

Article

Clinical features and FGFR3 mutations of children with achondroplasia.

Published in:

Chinese Journal of Contemporary Pediatrics, 2022, v. 24, n. 4, p. 405, doi. 10.7499/j.issn.1008-8830.2111039

By:

ZHANG Hui-Qin;
TAO Dong-Ying;
ZHANG Jing-Jing;
NIU Huan-Hong;
LUO Jian-Feng;
CHENG Sheng-Quan

Publication type:

Article

Floating-Harbor syndrome: a case report and literature review.

Published in:

Chinese Journal of Contemporary Pediatrics, 2019, v. 21, n. 12, p. 1208, doi. 10.7499/j.issn.1008-8830.2019.12.011

By:

LI Rong-Min;
LU Ya-Chao;
LI Zhen;
WANG Jie-Ying;
CHANG Jie;
LEI Shu-Qin;
ZENG Qiao;
SANG Yan-Mei

Publication type:

Article

Clinical Features of Seven COL2A1 Variations in Chinese Children With Type II Collagen Disorders.

Published in:

Acta Paediatrica, 2025, v. 114, n. 7, p. 1720, doi. 10.1111/apa.70029

By:

Zhan, Shumin;
He, Qin;
Yuan, Jinna;
Xu, Xiaoqin;
Huang, Ke;
Dong, Guanping;
Fu, Junfen;
Wu, Dingwen;
Wu, Wei

Publication type:

Article

The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review.

Published in:

2019

By:

Colman, Marlies;
Van Damme, Tim;
Steichen-Gersdorf, Elisabeth;
Laccone, Franco;
Nampoothiri, Sheela;
Syx, Delfien;
Guillemyn, Brecht;
Symoens, Sofie;
Malfait, Fransiska

Publication type:

journal article

Achondroplasia: a comprehensive clinical review.

Published in:

2019

By:

Pauli, Richard M.

Publication type:

journal article

Bariatric Surgery in Patients with Achondroplasia, a Feasibility Study of Two Case Studies.

Published in:

Obesity Surgery, 2024, v. 34, n. 5, p. 1949, doi. 10.1007/s11695-024-07144-1

By:

de la Codre, Frédéric;
Jacobi, David;
Catheline, Jean-Marc;
Khamphommala, Litavan;
de Montrichard, Marie;
Blanchard, Claire

Publication type:

Article

A rare type of skeletal dysplasia resembling rheumatoid arthritis.

Published in:

QJM: An International Journal of Medicine, 2020, v. 113, p. i218, doi. 10.1093/qjmed/hcaa063.022b

By:

Elsayed, S.;
Gamal, R.

Publication type:

Article

Abnormal Differentiation of Dental Pulp Cells in Cleidocranial Dysplasia.

Published in:

Journal of Dental Research, 2015, v. 94, n. 4, p. 577, doi. 10.1177/0022034514566655

By:

Yan, W.J.;
Zhang, C.Y.;
Yang, X.;
Liu, Z.N.;
Wang, X.Z.;
Sun, X.Y.;
Wang, Y.X.;
Zheng, S.G.

Publication type:

Article

Approach to the Patient with Achondroplasia—New Considerations for Diagnosis, Management, and Treatment Open Access.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2025, v. 110, n. 7, p. e2309, doi. 10.1210/clinem/dgaf017

By:

Merchant, Nadia;
Hoover-Fong, Julie;
Carroll, Ricki S

Publication type:

Article

CT and MRI of fibrous dysplasia of the spine.

Published in:

British Journal of Radiology, 2012, v. 85, n. 1015, p. 996, doi. 10.1259/bjr/81329736

By:

Park, S. K.;
Lee, I. S.;
Choi, J.Y.;
Cho, K. H.;
Suh, K. J.;
Lee, J. W.;
Song, J. W.

Publication type:

Article

Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia.

Published in:

Mammalian Genome, 2016, v. 27, n. 3/4, p. 111, doi. 10.1007/s00335-016-9619-x

By:

Diener, Susanne;
Bayer, Sieglinde;
Sabrautzki, Sibylle;
Wieland, Thomas;
Mentrup, Birgit;
Przemeck, Gerhard;
Rathkolb, Birgit;
Graf, Elisabeth;
Hans, Wolfgang;
Fuchs, Helmut;
Horsch, Marion;
Schwarzmayr, Thomas;
Wolf, Eckhard;
Klopocki, Eva;
Jakob, Franz;
Strom, Tim;
Angelis, Martin;
Lorenz-Depiereux, Bettina

Publication type:

Article

Lung Hypoplasia in Fetuses with Skeletal Dysplasia Determined by Fetal Lung Weight: Which Ultrasound Measurement/Ratio Has the Highest Detection Rate.

Published in:

Fetal Diagnosis & Therapy, 2024, v. 51, n. 1, p. 23, doi. 10.1159/000534209

By:

Ashwal, Eran;
Sgro, Jonathan;
Shannon, Patrick;
Chong, Karen;
Glanc, Phyllis;
Chitayat, David

Publication type:

Article

Prenatal Diagnosis of Skeletal Dysplasias: What Can CT Do for You?

Published in:

Fetal Diagnosis & Therapy, 2023, v. 50, n. 2, p. 61, doi. 10.1159/000528692

By:

Snyder, Elizabeth J.;
Moldenhauer, Julie S.;
Victoria, Teresa

Publication type:

Article

Proteoglycan Dysfunction as a Key Hallmark of Intervertebral Disc Degeneration: Commentary on "Proteoglycan Dysfunction: A Common Link Between Intervertebral Disc Degeneration and Skeletal Dysplasia".

Published in:

Neurospine, 2024, v. 21, n. 1, p. 179, doi. 10.14245/ns.2448266.133

By:

Takashi Yurube

Publication type:

Article

Proteoglycan Dysfunction: A Common Link Between Intervertebral Disc Degeneration and Skeletal Dysplasia.

Published in:

Neurospine, 2024, v. 21, n. 1, p. 162, doi. 10.14245/ns.2347342.671

By:

Kimheak Sao;
Risbud, Makarand V.

Publication type:

Article

Rare Findings in Cleidocranial Dysplasia Caused by RUNX Mutation.

Published in:

Global Medical Genetics, 2022, v. 9, n. 1, p. 23, doi. 10.1055/s-0041-1736482

By:

Yigin, Aysel Kalayci;
Duz, Mehmet Bugrahan;
Seven, Mehmet

Publication type:

Article

Prenatal central nervous system anomaly with skeletal dysplasia associated with a de novo interstitial tandem triplication of chromosome 14.

Published in:

2017

By:

Hall, Georgina K.;
Mackie, Fiona L.;
Williams, Helen;
Williams, Denise;
Cox, Phillip;
McMullan, Dominic J.;
Allen, Stephanie;
Kilby, Mark D.

Publication type:

journal article

Foetal biometry in polyhydramnios: Does femur length fall behind?

Published in:

2016

By:

Ipek, Ali;
Idilman, Ilkay S.;
Kurt, Aydın;
Cay, Nurdan;
Unal, Ozlem;
Erdogan, Beyza Doganay;
Keskin, Huseyin Levent;
Arslan, Halil

Publication type:

journal article

Early Osteoarthritis and Double-Layered Patella in a Patient With Multiple Epiphyseal Dysplasia.

Published in:

Archives of Rheumatology, 2017, v. 32, n. 3, p. 260, doi. 10.5606/ArchRheumatol.2017.6415

By:

SAYILIR, Selçuk;
EKİZ, Timur

Publication type:

Article