Works matching DE "ACHONDROPLASIA"

Results: 542

Vosoritide in achondroplasia: a profile of its use.

Published in:

Drugs & Therapy Perspectives, 2022, v. 38, n. 10, p. 417, doi. 10.1007/s40267-022-00942-6

By:

Heo, Young-A

Publication type:

Article

Evaluation of Volumetric Bone Mineral Density, Bone Microarchitecture, and Bone Strength in Patients with Achondroplasia Caused by FGFR3 c.1138G > A Mutation.

Published in:

Calcified Tissue International, 2023, v. 112, n. 1, p. 13, doi. 10.1007/s00223-022-01027-2

By:

Liang, Hanting;
Qi, Wenting;
Jin, Chenxi;
Pang, Qianqian;
Liu, Wei;
Jiang, Yan;
Wang, Ou;
Li, Mei;
Xing, Xiaoping;
Pan, Hui;
Xia, Weibo

Publication type:

Article

Collagen X Marker Levels are Decreased in Individuals with Achondroplasia.

Published in:

Calcified Tissue International, 2022, v. 111, n. 1, p. 66, doi. 10.1007/s00223-022-00966-0

By:

Carroll, Ricki S.;
Olney, Robert C.;
Duker, Angela L.;
Coghlan, Ryan F.;
Mackenzie, William G.;
Ditro, Colleen P.;
Brown, Cassondra J.;
O'Connell, David A.;
Horton, William A.;
Johnstone, Brian;
Espiner, Eric A.;
Prickett, Timothy C. R.;
Bober, Michael B.

Publication type:

Article

Physical, Mental, and Social Problems of Adolescent and Adult Patients with Achondroplasia.

Published in:

2019

By:

Matsushita, Masaki;
Kitoh, Hiroshi;
Mishima, Kenichi;
Yamashita, Satoshi;
Haga, Nobuhiko;
Fujiwara, Sayaka;
Ozono, Keiichi;
Kubota, Takuo;
Kitaoka, Taichi;
Ishiguro, Naoki

Publication type:

journal article

Humeral lengthening in patients with achondroplasia and in patients with post-septic shortening: comparison of procedure efficiency and safety.

Published in:

2018

By:

Shadi, Milud;
Musielak, Bartosz;
Koczewski, Paweł;
Janusz, Piotr

Publication type:

journal article

Shoulder arthroplasty in patients with osteo-chondrodysplasias.

Published in:

2017

By:

Schoch, Bradley;
Werthel, Jean-David;
Sanchez-Sotelo, Joaquin;
Sperling, John;
Cofield, Robert;
Morrey, Mark;
Sperling, John W;
Cofield, Robert H

Publication type:

journal article

Alteration of major venous drainage routes in a patient with achondroplasia after ventriculoperitoneal shunt placement.

Published in:

2024

By:

Rai, Yurie;
Ogiwara, Hideki

Publication type:

Case Study

Unravelling the pathogenesis of foramen magnum stenosis in patients with severe achondroplasia: a CT-based comparison with age-matched controls and FGFR3 craniosynostosis syndromes.

Published in:

Child's Nervous System, 2023, v. 39, n. 12, p. 3491, doi. 10.1007/s00381-023-06005-z

By:

Zhang, Catherine H.;
D'Arco, Felice;
Borghi, Alessandro;
Picariello, Stefania;
Cheung, Moira;
Irving, Melita;
Thompson, Dominic

Publication type:

Article

Spinal canal stenosis in children with achondroplasia: the role of augmentation laminoplasty—a 15-year single institution experience.

Published in:

Child's Nervous System, 2023, v. 39, n. 1, p. 229, doi. 10.1007/s00381-022-05566-9

By:

Afshari, Fardad T.;
Slator, Naomi;
Fayeye, Oluwafikayo;
Ramakrishnan, Piravin K.;
Solanki, Guirish A.

Publication type:

Article

Myasthenia gravis complicating the surgical management of achondroplasia: a case-based update.

Published in:

2022

By:

Afshari, Fardad T.;
Parida, Amitav;
Debenham, Phillip;
Solanki, Guirish A.

Publication type:

Case Study

New insights in craniovertebral junction MR changes leading to stenosis in children with achondroplasia.

Published in:

Child's Nervous System, 2022, v. 38, n. 6, p. 1137, doi. 10.1007/s00381-022-05514-7

By:

Cabet, Sara;
Szathmari, Alexandru;
Mottolese, Carmine;
Franco, Patricia;
Guibaud, Laurent;
Rossi, Massimiliano;
Di Rocco, Federico

Publication type:

Article

Airways and craniofacial assessment in children affected by achondroplasia with and without sleep-disordered breathing: quantitative magnetic resonance study.

Published in:

Child's Nervous System, 2022, v. 38, n. 6, p. 1147, doi. 10.1007/s00381-022-05484-w

By:

Calandrelli, Rosalinda;
Pilato, Fabio;
D'Apolito, Gabriella;
Tenore, Lorenzo;
Onesimo, Roberta;
Leoni, Chiara;
Zampino, Giuseppe;
Colosimo, Cesare

Publication type:

Article

Endoscopic third ventriculostomy for hydrocephalus in a patient with achondroplasia: a case report and literature review.

Published in:

Child's Nervous System, 2021, v. 37, n. 12, p. 3907, doi. 10.1007/s00381-021-05129-4

By:

Shoda, Kenji;
Ohe, Naoyuki;
Sasai, Hideo;
Miyai, Masafumi;
Ohnishi, Hidenori;
Iwama, Toru

Publication type:

Article

The 100th volume of 'Archives' appeared 100 years ago.

Published in:

2013

By:

Diedrich, Klaus;
Ludwig, Hans

Publication type:

Editorial

Statin treatment rescues FGFR3 skeletal dysplasia phenotypes.

Published in:

Nature, 2014, v. 513, n. 7519, p. 507, doi. 10.1038/nature13775

By:

Yamashita, Akihiro;
Morioka, Miho;
Kishi, Hiromi;
Yahara, Yasuhito;
Okada, Minoru;
Fujita, Kaori;
Kimura, Takeshi;
Sawai, Hideaki;
Ikegawa, Shiro;
Tsumaki, Noriyuki

Publication type:

Article

Anesthesia Management in an Acondroplasic Patient Developing Cardiac Tamponade Due to Myxedema.

Published in:

2020

By:

URAL, Sedef Gülçin;
GÜNGÖR, Dilruba;
GÜLAŞTI, Ömer Faruk

Publication type:

Case Study

Case Report of Chondrodysplasia Punctata: A Rare Complication of Hyperemesis Gravidarum.

Published in:

Kerbala Jorunal of Medicine, 2018, v. 11, n. 2, p. 4064

By:

Sahib, Mahdi Abdul

Publication type:

Article

SNPS in the Promoter Regions of the Canine RMRP and SHOX Genes are not Associated with Canine Chondrodysplasia.

Published in:

Animal Biotechnology, 2008, v. 19, n. 1, p. 1, doi. 10.1080/10495390701638328

By:

Young, AmyE.;
Bannasch, DanikaL.

Publication type:

Article

A case of facial palsy after spinal surgery with prone positioning in a patient with achondroplasia.

Published in:

JA Clinical Reports, 2023, v. 9, n. 1, p. 1, doi. 10.1186/s40981-023-00628-6

By:

Yoshizawa, Shuto;
Nomoto, Yukio;
Nemoto, Chiaki;
Inoue, Satoki

Publication type:

Article

Chemotherapy dosing in achondroplastic dwarfism: a case report and review of literature.

Published in:

Journal of Clinical Pharmacy & Therapeutics, 2016, v. 41, n. 6, p. 733, doi. 10.1111/jcpt.12464

By:

Elsoueidi, R.;
Gresham, C.;
Michael, L.;
Chaney, D.;
Mourad, H.

Publication type:

Article

55th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE), Paris, France, September 10-12, 2016: Abstracts.

Published in:: 2016
Publication type:: Abstract

Symposia.

Published in:: 2016
Publication type:: Abstract

Height Outcome of Recombinant Human Growth Hormone Treatment in Achondroplasia Children: A Meta-Analysis.

Published in:

Hormone Research in Paediatrics, 2016, v. 86, n. 1, p. 27, doi. 10.1159/000446958

By:

Miccoli, Mario;
Bertelloni, Silvano;
Massart, Francesco

Publication type:

Article

What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review.

Published in:

Genes, 2023, v. 14, n. 1, p. 199, doi. 10.3390/genes14010199

By:

Sforza, Elisabetta;
Margiotta, Gaia;
Giorgio, Valentina;
Limongelli, Domenico;
Proli, Francesco;
Kuczynska, Eliza Maria;
Leoni, Chiara;
De Rose, Cristina;
Trevisan, Valentina;
Romeo, Domenico Marco;
Calandrelli, Rosalinda;
De Corso, Eugenio;
Massimi, Luca;
Palmacci, Osvaldo;
Rigante, Donato;
Zampino, Giuseppe;
Onesimo, Roberta

Publication type:

Article

Detection of G1138A Mutation of the FGFR3 Gene in Tooth Material from a 180-Year-Old Museological Achondroplastic Skeleton.

Published in:

Genes, 2017, v. 8, n. 9, p. 214, doi. 10.3390/genes8090214

By:

Boer, Lucas L.;
Naue, Jana;
de Rooy, Laurens;
Oostra, Roelof-Jan

Publication type:

Article

Pubertal growth in height, sitting height and leg length in achondroplasia.

Published in:

Annals of Human Biology, 2021, v. 48, n. 1, p. 8, doi. 10.1080/03014460.2021.1883109

By:

Cole, T. J.;
del Pino, M.;
Adamo, P.;
Fano, V.

Publication type:

Article

Pustular Skin Lesions in an Adult Female Patient with X-linked Dominant Chondrodysplasia Punctata with a Novel Emopamil Binding Protein Mutation: A Rare Skin Manifestation.

Published in:

Acta Dermato-Venereologica, 2021, v. 101, n. 9, p. 1, doi. 10.2340/00015555-3916

By:

Akito HASEGAWA;
Satoru SHINKUMA;
Ryota HAYASHI;
Yutaka SHIMOMURA;
Riichiro ABE

Publication type:

Article

Advances in evaluating the fetal skeleton.

Published in:

International Journal of Women's Health, 2014, v. 6, p. 489, doi. 10.2147/IJWH.S47073

By:

Noel, Ann-Edwidge;
Brown, Richard N.

Publication type:

Article

'Taking a Risk': Disability, Prejudice and Advocacy in the Editing and Publishing History of Ruth Park's Swords and Crowns and Rings.

Published in:

2022

By:

Grundy, Alice

Publication type:

Literary Criticism

Akondroplazik Pediyatrik Hastada Anestezi Yönetimi.

Published in:

2010

By:

Bilgen, Sevgi;
Köner, Özge;
Türe, Hatice;
İnan, Muharrem;
Aykaç, Bora

Publication type:

Case Study

Clinical, anthropometric, radiological and molecular characteristics of Egyptian achondroplasia patients.

Published in:

Egyptian Journal of Medical Human Genetics, 2009, v. 10, n. 1, p. 13

By:

Aglan, Mona S.;
Abdel-Aleem, Alice K.;
EL-Katoury, Ahmed I. S.;
Hafez, Mona H.;
Saleem, Sahar N.;
Otaify, Ghada A.;
Temtamy, Samia A.

Publication type:

Article

Successful Delivery in a Woman With Achondroplasia: A Cases Report.

Published in:

Acta Medica Iranica, 2017, v. 55, n. 8, p. 536

By:

Shirazi, Mahbooheh;
Golshahi, Fateme;
Teimoory, Nastaran

Publication type:

Article

The best of the week's health-related TV and radio.

Published in:

Nursing Standard, 2013, v. 27, n. 49, p. 31, doi. 10.7748/ns2013.08.27.49.31.s44

By:

Paul, Margaret

Publication type:

Article

CONTINUING EDUCATION. HOME STUDY ACTIVITIES.

Published in:: Neonatal Network, 2017, v. 36, n. 6, p. 388, doi. 10.1891/0730-0832.36.6.388
Publication type:: Article

Achondroplasia: Etiology, Clinical Presentation, and Management.

Published in:

Neonatal Network, 2017, v. 36, n. 6, p. 337, doi. 10.1891/0730-0832.36.6.337

By:

Daugherty, Allyson

Publication type:

Article

Limb Lengthening for Achondroplasia: Systematic Review and Meta-analysis.

Published in:

Egyptian Journal of Hospital Medicine, 2019, v. 74, n. 7, p. 1491

By:

Elbatrawy, Yasser Ali;
Abdelaziz, Ashraf Mohammed;
Zidan, Mohamed Ahmed Abdel-Meged

Publication type:

Article

Recommendations for management of infants and young children with achondroplasia: Does clinical practice align?

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03621-7

By:

Guillen-Navarro, Encarna;
AlSayed, Moeenaldeen;
Alves, Inês;
Ben-Omran, Tawfeg;
Boero, Silvio;
Cormier-Daire, Valérie;
Fauroux, Brigitte;
Fredwall, Svein;
Irving, Melita;
Kunkel, Philip;
Lampe, Christian;
Lausch, Ekkehart;
Maghnie, Mohamad;
Mohnike, Klaus;
Mortier, Geert;
Pejin, Zagorka;
Sessa, Marco;
Sousa, Sérgio B.

Publication type:

Article

Clinical and economic burden of achondroplasia in the United States: results from a retrospective, observational study.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-024-03268-w

By:

Merchant, Nadia;
Alvir, Jose;
Ericksen, Paulette Negron;
Loftus, Jane;
Cara, Jose Francisco;
Slade, Alison;
Wajnrajch, Michael P.;
Baker, Christine L.

Publication type:

Article

International expert opinion on the considerations for combining vosoritide and limb surgery: a modified delphi study.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03236-4

By:

Boero, Silvio;
Vodopiutz, Julia;
Maghnie, Mohamad;
de Bergua, Josep M.;
Ginebreda, Ignacio;
Kitoh, Hiroshi;
Langendörfer, Micha;
Leiva-Gea, Antonio;
Malone, Jason;
McClure, Philip;
Mindler, Gabriel T.;
Popkov, Dmitry;
Rodl, Robert;
Rosselli, Pablo;
Verdoni, Fabio;
Vilenskii, Viktor;
Huser, Aaron J.

Publication type:

Article

Cranial features of achondroplasia presenting with headaches.

Published in:

2022

By:

Tabone, Emma;
Custo, Scott;
Grech, Reuben

Publication type:

Case Study

Activated FGFR3 prevents subchondral bone sclerosis during the development of osteoarthritis in transgenic mice with achondroplasia.

Published in:

Journal of Orthopaedic Research, 2018, v. 36, n. 1, p. 300, doi. 10.1002/jor.23608

By:

Okura, Toshiaki;
Matsushita, Masaki;
Mishima, Kenichi;
Esaki, Ryusaku;
Seki, Taisuke;
Ishiguro, Naoki;
Kitoh, Hiroshi

Publication type:

Article

Bone robusticity in two distinct skeletal dysplasias diverges from established patterns.

Published in:

Journal of Orthopaedic Research, 2017, v. 35, n. 11, p. 2392, doi. 10.1002/jor.23543

By:

Citron, Kate;
Veneziale, Cosmo;
Marino, Josephine;
Carter, Erin M.;
Jepsen, Karl J.;
Raggio, Cathleen

Publication type:

Article

Early-onset metaphyseal chondrodysplasia type Schmid associated with a COL10A1 frame-shift mutation and impaired trimerization of wild-type α1(X) protein chains.

Published in:

Journal of Orthopaedic Research, 2010, v. 28, n. 11, p. 1497, doi. 10.1002/jor.21161

By:

Mäkitie, Outi;
Susic, Miki;
Cole, William G.

Publication type:

Article

Case reports and case series bridge gaps in the literature.

Published in:

Baylor University Medical Center Proceedings, 2024, v. 37, n. 1, p. 69, doi. 10.1080/08998280.2023.2273689

By:

Hofkamp, Michael P.;
McCune, Brittany N.

Publication type:

Article

Anesthetic management of parturients with achondroplasia: a case series.

Published in:

Baylor University Medical Center Proceedings, 2024, v. 37, n. 1, p. 63, doi. 10.1080/08998280.2023.2261084

By:

Dumitrascu, Catalina Ioana;
Eneh, Peace Nnenna;
Keim, Audrey Anne;
Kraus, Molly Boyle;
Sharpe, Emily Elizabeth

Publication type:

Article

High-resolution computed tomography temporal bone imaging in achondroplasia.

Published in:

Baylor University Medical Center Proceedings, 2021, v. 34, n. 3, p. 419, doi. 10.1080/08998280.2020.1868245

By:

Kochar, Puneet S.;
Soin, Priti;
Megahed, Ayah

Publication type:

Article

Progress in managing children with achondroplasia.

Published in:

Expert Review of Endocrinology & Metabolism, 2024, v. 19, n. 6, p. 479, doi. 10.1080/17446651.2024.2390416

By:

Taylor-Miller, Tashunka;
Savarirayan, Ravi

Publication type:

Article

A multidisciplinary approach to understanding skeletal dysplasias.

Published in:

Expert Review of Endocrinology & Metabolism, 2011, v. 6, n. 5, p. 731, doi. 10.1586/EEM.11.61

By:

Kinning, Esther;
McDevitt, Helen;
Duncan, Rod;
Ahmed, S. Faisal

Publication type:

Article

Morphometric Analysis of the Foramen Magnum.

Published in:

International Journal of Morphology, 2017, v. 35, n. 4, p. 1270, doi. 10.4067/S0717-95022017000401270

By:

Samara, Osama A.;
Amarin, Justin Z.;
Badran, Darwish H.;
Al-Khayat, Omar W.;
Suradi, Haya H.;
Shatarat, Amjad T.;
Hadidi, Maher T.

Publication type:

Article

Advantages and Disadvantages of Different Treatment Methods in Achondroplasia: A Review.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5573, doi. 10.3390/ijms22115573

By:

Wrobel, Wiktoria;
Pach, Emilia;
Ben-Skowronek, Iwona

Publication type:

Article