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Items: 1 to 20 of 1433

1.
An immunohistochemical study of thanatophoric dysplasia type 1 after fetus autopsy examination
Ioanna Abba Deka, Paschalis Theotokis, Maria Eleni Manthou, Angeliki Mathioudi, Evangelia Athanasiou, Soultana Meditskou
Congenit Anom (Kyoto) 2025 Jan-Dec; 65(1): e70004. Published online 2025 Jan 8. doi: 10.1111/cga.70004
PMCID:
PMC11710925
AbstractArticlePDF–26M
2.
Management of Methicillin-Resistant Staphylococcus aureus-infected femoral nonunion during lengthening in achondroplasia using circular external fixator: a case report
Koji Nozaka, Tsuyoshi Shirahata, Yusuke Yuasa, Naohisa Miyakoshi
BMC Musculoskelet Disord. 2024; 25: 1062. Published online 2024 Dec 23. doi: 10.1186/s12891-024-08224-0
PMCID:
PMC11664869
AbstractArticlePDF–1.6M
3.
Prevalence and Associated Factors of Ankle Osteoarthritis in Achondroplasia: A Retrospective Radiographic Assessment of 134 Patients
Won Seok Choi, Jung Woo Shin, Sei Wook Son, Hak Jun Kim, Sang Hyeon Hwang, Sang Geon Park, Young Hwan Park
Cartilage. 2024 Dec 20 : 19476035241307862. doi: 10.1177/19476035241307862 [Epub ahead of print]
PMCID:
PMC11660094
AbstractArticlePDF–1.6M
4.
Prenatal diagnosis of achondroplasia and hypochondroplasia using three-dimensional computed tomography: a case series at a single institution
Miyoko Waratani, Tatsuji Hasegawa, Koki Shimura, Yukiko Tanaka, Fumitake Ito, Akiko Takahata, Taisuke Mori
Quant Imaging Med Surg. 2024 Dec 5; 14(12): 9543–9551. Published online 2024 Nov 6. doi: 10.21037/qims-24-682
PMCID:
PMC11651972
AbstractArticlePDF–1.3M
5.
Novel Transgenic Zebrafish Lines to Study the CHRNA3‐B4‐A5 Gene Cluster
Yuanqi Hua, Judith Habicher, Matthias Carl, Remy Manuel, Henrik Boije
Dev Neurobiol. 2025 Jan; 85(1): e22956. Published online 2024 Dec 16. doi: 10.1002/dneu.22956
PMCID:
PMC11650009
AbstractArticlePDF–9.0M
6.
Otologic Manifestations in Patients with Achondroplasia: A Multicenter Study
Dohee Kim, Joonsik Yoon, Myung-Whan Suh, Jun Ho Lee, Moo Kyun Park
J Int Adv Otol. 2024 Nov; 20(6): 517–522. Published online 2024 Nov 1. doi: 10.5152/iao.2024.241523
PMCID:
PMC11639576
AbstractArticlePDF–2.2M
7.
Identification of potential non-invasive biomarkers in diastrophic dysplasia
Chiara Paganini, Ricki S. Carroll, Chiara Gramegna Tota, Andrea J. Schelhaas, Alessandra Leone, Angela L. Duker, David A. O’Connell, Ryan F. Coghlan, Brian Johnstone, Carlos R. Ferreira, Sabrina Peressini, Riccardo Albertini, Antonella Forlino, Luisa Bonafé, Ana Belinda Campos-Xavier, Andrea Superti-Furga, Andreas Zankl, Antonio Rossi, Michael B. Bober
Bone. Author manuscript; available in PMC 2024 Dec 13.
Published in final edited form as: Bone. 2023 Oct; 175: 116838. Published online 2023 Jul 16. doi: 10.1016/j.bone.2023.116838
PMCID:
PMC11638977
AbstractArticlePDF–696K
8.
Achondroplasia: aligning mouse model with human clinical studies shows crucial importance of immediate postnatal start of the therapy
Gustavo Rico-Llanos, Frantisek Spoutil, Eva Blahova, Adolf Koudelka, Michaela Prochazkova, Aleksandra Czyrek, Bohumil Fafilek, Jan Prochazka, Marcos Gonzalez Lopez, Jan Krivanek, Radislav Sedlacek, Deborah Krakow, Yosuke Nonaka, Yoshikazu Nakamura, Pavel Krejci
J Bone Miner Res. 2024 Dec; 39(12): 1783–1792. Published online 2024 Oct 18. doi: 10.1093/jbmr/zjae173
PMCID:
PMC11638852
AbstractArticlePDF–2.2M
9.
Prenatal diagnosis of achondroplasia in primary care settings - Recognising the soft markers: A case report
Mohd Fudzi Wan Fadzleen Ezyani, Lili Husniati Yaacob, Razlina Abdul Rahman, Chiew Chea Lau
Malays Fam Physician. 2024; 19: 66. Published online 2024 Nov 30. doi: 10.51866/cr.698
PMCID:
PMC11627173
AbstractArticlePDF–1007K
10.
Lifetime Impact Study for Achondroplasia (LISA): Findings from an observational and multinational study focused on health-related quality of life in individuals with achondroplasia in Latin America
Juan Llerena, Jr, Pablo Rosselli, Amanda Aragão, Cristina Valenzuela, Debora Bertola, Yaneth Mendez, Mariana del Pino, Nicolette Calvacanti, Paula Thomazinho, Jeanne M. Pimenta, Shelda Cohen, Tom Butt, José C. Thomaz, Jr, Renée Shediac, Richard Rowell, Tatiana S.P.C. Magalhães, Chong Kim, Virginia Fano
Genet Med Open. 2024; 2: 100843. Published online 2023 Nov 18. doi: 10.1016/j.gimo.2023.100843
PMCID:
PMC11613863
AbstractArticlePDF–2.0M
11.
Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population
Michiel Vanneste, Hanne Hoskens, Seppe Goovaerts, Harold Matthews, Jay Devine, Jose D. Aponte, Joanne Cole, Mark Shriver, Mary L. Marazita, Seth M. Weinberg, Susan Walsh, Stephen Richmond, Ophir D. Klein, Richard A. Spritz, Hilde Peeters, Benedikt Hallgrímsson, Peter Claes
Nat Commun. 2024; 15: 10458. Published online 2024 Dec 2. doi: 10.1038/s41467-024-54839-1
PMCID:
PMC11612227
AbstractArticlePDF–1.8M
12.
Divergence in MiRNA targeting of AchAco and its role in citrate accumulation in kiwifruit
Li-Zhen Ling, Xiao-Di Hu, Shu-Dong Zhang
BMC Plant Biol. 2024; 24: 1157. Published online 2024 Dec 2. doi: 10.1186/s12870-024-05877-w
PMCID:
PMC11610084
AbstractArticlePDF–1.9M
13.
Complicated Spinal Stenosis and Spinal Deformity in Patients with Achondroplasia: Case Series and Review of the Literature
Wenyang Fu, Xianlei Gao, Xia Wang, Rongkun Xu, Shangye Li, Lianlei Wang, Xinyu Liu
Orthop Surg. 2024 Dec; 16(12): 3059–3067. Published online 2024 Oct 1. doi: 10.1111/os.14246
PMCID:
PMC11608775
AbstractArticlePDF–3.1M
14.
Characterization of HTLV-1 Infectious Molecular Clone Isolated from Patient with HAM/TSP and Immortalization of Human Primary T-Cell Lines
Marcia Bellon, Pooja Jain, Christophe Nicot
Viruses. 2024 Nov; 16(11): 1755. Published online 2024 Nov 9. doi: 10.3390/v16111755
PMCID:
PMC11599126
AbstractArticlePDF–3.2M
15.
Anatomical Characteristics of Cervicomedullary Compression on MRI Scans in Children with Achondroplasia
Isabella Trautwein, Daniel Behme, Philip Kunkel, Jasper Gerdes, Klaus Mohnike
J Imaging. 2024 Nov; 10(11): 291. Published online 2024 Nov 14. doi: 10.3390/jimaging10110291
PMCID:
PMC11595703
AbstractArticlePDF–3.7M
16.
GC-MS Profiling and Pharmacological Potential of Physconia venusta (Ach.) Poelt
Ibtissem ZEGHINA, Ibtissem EL OUAR, Maya Abir TARTOUGA, Mohamed Badreddine MOKHTARI, Daniel ELIEH-ALI-KOMI, Lynda GALI, Chawki BENSOUICI
Turk J Pharm Sci. 2024 Jun; 21(3): 243–251. Published online 2024 Jul 12. doi: 10.4274/tjps.galenos.2023.91126
PMCID:
PMC11590548
AbstractArticlePDF–991K
17.
Eco-Friendly Species Evernia prunastri (L.) Ach.: Phenolic Profile, Antioxidant, Anti-inflammatory, and Anticancer Properties
Khadidja Belhouala, Cansu Korkmaz, Meltem Taş Küçükaydın, Selçuk Küçükaydın, Mehmet Emin Duru, Bachir Benarba
ACS Omega. 2024 Nov 19; 9(46): 45719–45732. Published online 2024 Nov 5. doi: 10.1021/acsomega.3c10407
PMCID:
PMC11579742
AbstractArticlePDF–4.0M
18.
Reduced striatal M4-cholinergic signaling following dopamine loss contributes to parkinsonian and l-DOPA–induced dyskinetic behaviors
Beatriz E. Nielsen, Christopher P. Ford
Sci Adv. 2024 Nov 22; 10(47): eadp6301. Published online 2024 Nov 20. doi: 10.1126/sciadv.adp6301
PMCID:
PMC11578179
AbstractArticlePDF–6.1M
19.
Intradural T12–L1 disc herniation in a patient with achondroplasia: A case report
Edgar G. Ordonez-Rubiano, Jorge Alberto Romo, Juan Torres, Santiago José Troncoso, Javier Patiño
Surg Neurol Int. 2024; 15: 369. Published online 2024 Oct 11. doi: 10.25259/SNI_347_2024
PMCID:
PMC11544500
AbstractArticlePDF–833K
20.
A Case Report on Obstructive Sleep Apnea in a Pediatric Patient with Achondroplasia
Eljohn C. Yee, Agnes T. Remulla
Acta Med Philipp. 2023; 57(8): 69–75. Published online 2023 Aug 29. doi: 10.47895/amp.vi0.4969
PMCID:
PMC11522604
AbstractArticlePDF–1.3M

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