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Items: 1 to 20 of 68

1.
Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia
Lingchi Kong, Li Shi, Wenbo Wang, Rongtai Zuo, Mengwei Wang, Qinglin Kang
BMC Med Genet. 2019; 20: 200. Published online 2019 Dec 19. doi: 10.1186/s12881-019-0937-1
PMCID:
PMC6923838
AbstractArticlePDF–5.6M
2.
Congenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child
Efat Khorasani, MD, Rahim Vakili, MD
Iran J Med Sci. 2016 Jan; 41(1): 64–66.
PMCID:
PMC4691273
AbstractArticlePDF–270K
3.
Jansen Metaphyseal Chondrodysplasia due to Heterozygous H223R-PTH1R Mutations With or Without Overt Hypercalcemia
Sheela Nampoothiri, Eduardo Fernández-Rebollo, Dhanya Yesodharan, Thomas J. Gardella, Eric T. Rush, Craig B. Langman, Harald Jüppner
J Clin Endocrinol Metab. 2016 Nov; 101(11): 4283–4289. Published online 2016 Jul 13. doi: 10.1210/jc.2016-2054
PMCID:
PMC5095231
AbstractArticle
4.
Identification of key genes associated with Schmid-type metaphyseal chondrodysplasia based on microarray data
Bing Wang, Li He, Wusheng Miao, Ge Wu, Hai Jiang, Yongtao Wu, Jining Qu, Min Li
Int J Mol Med. 2017 Jun; 39(6): 1428–1436. Published online 2017 Apr 19. doi: 10.3892/ijmm.2017.2954
PMCID:
PMC5428963
AbstractArticlePDF–1.3M
5.
Hypophosphatemia with Elevations in Serum Fibroblast Growth Factor 23 in a Child with Jansen’s Metaphyseal Chondrodysplasia
Whitney W. Brown, Harald Jüppner, Craig B. Langman, Heather Price, Emily G. Farrow, Kenneth E. White, Kenneth L. McCormick
J Clin Endocrinol Metab. 2009 Jan; 94(1): 17–20. Published online 2008 Oct 14. doi: 10.1210/jc.2008-0220
PMCID:
PMC2630869
AbstractArticle
6.
Metaphyseal chondrodysplasia.
J. W. Spranger
Postgrad Med J. 1977 Aug; 53(622): 480–487. doi: 10.1136/pgmj.53.622.480
PMCID:
PMC2496735
SummaryPage BrowsePDF–1.5M
7.
Competency for Nonsense-Mediated Reduction in Collagen X mRNA Is Specified by the 3′ UTR and Corresponds to the Position of Mutations in Schmid Metaphyseal Chondrodysplasia
Jacqueline T. Tan, Friederike Kremer, Susanna Freddi, Katrina M. Bell, Naomi L. Baker, Shireen R. Lamandé, John F. Bateman
Am J Hum Genet. 2008 Mar 3; 82(3): 786–793. Published online 2008 Feb 29. doi: 10.1016/j.ajhg.2008.01.006
PMCID:
PMC2427218
AbstractArticlePDF–550K
8.
Progression of Mineral Ion Abnormalities in Patients With Jansen Metaphyseal Chondrodysplasia
Hiroshi Saito, Hiroshi Noda, Philippe Gatault, Detlef Bockenhauer, Kah Yin Loke, Olaf Hiort, Caroline Silve, Erin Sharwood, Regina Matsunaga Martin, Michael J Dillon, David Gillis, Mark Harris, Sudhaker D Rao, Richard M Pauli, Thomas J Gardella, Harald Jüppner
J Clin Endocrinol Metab. 2018 Jul; 103(7): 2660–2669. Published online 2018 May 16. doi: 10.1210/jc.2018-00332
PMCID:
PMC6486824
AbstractArticle
9.
A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1
Francisco Cammarata-Scalisi, Uta Matysiak, Tanja Velten, Michele Callea, Dianora Araque, Colin E. Willoughby, Angela Galeotti, Andrea Avendaño
Mol Syndromol. 2019 May; 10(3): 167–170. Published online 2019 Feb 9. doi: 10.1159/000496553
PMCID:
PMC6528095
AbstractArticlePDF–510K
10.
Schmid's Type of Metaphyseal Chondrodysplasia: Diagnosis and Management
Ali Al Kaissi, Maher B Ghachem, Nesseb M Nabil, Vladimir Kenis, Eugene Melchenko, Ekatrina Morenko, Franz Grill, Rudolf Ganger, Susanne G Kircher
Orthop Surg. 2018 Aug; 10(3): 241–246. Published online 2018 Jul 19. doi: 10.1111/os.12382
PMCID:
PMC6594483
AbstractArticlePDF–525K
11.
Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid.
G. A. Wallis, B. Rash, W. A. Sweetman, J. T. Thomas, M. Super, G. Evans, M. E. Grant, R. P. Boot-Handford
Am J Hum Genet. 1994 Feb; 54(2): 169–178.
PMCID:
PMC1918153
SummaryPage BrowsePDF–1.8M
12.
Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia
M Ridanpaa, L Ward, S Rockas, M Sarkioja, H Makela, M Susic, F Glorieux, W Cole, O Makitie
J Med Genet. 2003 Oct; 40(10): 741–746. doi: 10.1136/jmg.40.10.741
PMCID:
PMC1735279
SummaryPDF–386K
13.
Metaphyseal chondrodysplasia, neutropenia, and pancreatic insufficiency presenting with respiratory distress in the neonatal period.
D M Danks, R Haslam, V Mayne, H J Kaufmann, P G Holtzapple
Arch Dis Child. 1976 Sep; 51(9): 697–702. doi: 10.1136/adc.51.9.697
PMCID:
PMC1546253
SummaryPage BrowsePDF–1.9M
14.
Cell kinetics of growth cartilage in spondylo-metaphyseal chondrodysplasia (smc) mice.
M N Thurston, D R Johnson, N F Kember
J Anat. 1985 May; 140(Pt 3): 435–445.
PMCID:
PMC1165110
SummaryPage BrowsePDF–4.0M
15.
A novel missense COL10A1 mutation: c.2020G>A; p. Gly674Arg linked with the bowed legs stature in the Schmid metaphyseal chondrodysplasia-affected Chinese lineage
Qiong Chen, Sheng-Nan Wu, Yong-Xing Chen, Selvaa Kumar C., Lu Zhang, Hai-Yan Wei, Senthil Arun Kumar
Bone Rep. 2020 Jun; 12: 100240. Published online 2019 Dec 13. doi: 10.1016/j.bonr.2019.100240
PMCID:
PMC6950639
AbstractArticlePDF–2.3M
16.
The ultrastructure of mandibular condylar and rib cartilage from mice carrying the spondylo-metaphyseal chondrodysplasia (smc) gene.
D R Johnson
J Anat. 1984 May; 138(Pt 3): 463–470.
PMCID:
PMC1164330
SummaryPage BrowsePDF–4.3M
17.
A Novel Presentation of Metaphyseal Chondrodysplasia, Schmid Type with Factor VII Deficiency
Mushtaq Ahmed, Saad Nasir, Syeda Shaheera Riaz Hashmi, Zia Iqbal, Ayesha Saleem
Cureus. 2020 Mar; 12(3): e7371. Published online 2020 Mar 23. doi: 10.7759/cureus.7371
PMCID:
PMC7176329
AbstractArticlePDF–785K
18.
A Collagen10a1 mutation disrupts cell polarity in a medaka model for metaphyseal chondrodysplasia type Schmid
Wen Hui Tan, Martin Rücklin, Daria Larionova, Tran Bich Ngoc, Bertie Joan van Heuven, Federica Marone, Paul Matsudaira, Christoph Winkler
iScience. 2024 Apr 19; 27(4): 109405. Published online 2024 Mar 4. doi: 10.1016/j.isci.2024.109405
PMCID:
PMC10952040
AbstractArticlePDF–7.3M
19.
Schmid metaphyseal chondrodysplasia: an example of radiology guidance to molecular diagnosis
Marina de França, Maria de Fátima de Faria Soares, Ana Luiza Pilla Luce, Eduardo Perrone
Radiol Case Rep. 2020 Dec; 15(12): 2554–2556. Published online 2020 Oct 7. doi: 10.1016/j.radcr.2020.08.005
PMCID:
PMC7553887
AbstractArticlePDF–499K
20.
An Inverse Agonist Ligand of the PTH Receptor Partially Rescues Skeletal Defects in a Mouse Model of Jansen’s Metaphyseal Chondrodysplasia
Hiroshi Noda, Jun Guo, Ashok Khatri, Thomas Dean, Monica Reyes, Michael Armanini, Daniel J Brooks, Janaina S Martins, Ernestina Schipani, Mary L Bouxsein, Marie B Demay, John T Potts, Jr, Harald Jüppner, Thomas J Gardella
J Bone Miner Res. Author manuscript; available in PMC 2021 Apr 16.
Published in final edited form as: J Bone Miner Res. 2020 Mar; 35(3): 540–549. Published online 2019 Dec 4. doi: 10.1002/jbmr.3913
PMCID:
PMC8050614
AbstractArticlePDF–1.8M

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