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Items: 10

1.
A Novel Dominant COL11A1 Mutation Resulting in a Severe Skeletal Dysplasia
Sophia B Hufnagel, K Nicole Weaver, Robert B Hufnagel, Patricia I Bader, Elizabeth K Schorry, Robert J Hopkin
Am J Med Genet A. Author manuscript; available in PMC 2022 Jun 10.
Published in final edited form as: Am J Med Genet A. 2014 Oct; 164A(10): 2607–2612. Published online 2014 Aug 4. doi: 10.1002/ajmg.a.36688
PMCID:
PMC9185704
ArticlePDF–355K
2.
Sfrp4 repression of the Ror2/Jnk cascade in osteoclasts protects cortical bone from excessive endosteal resorption
Kun Chen, Pei Ying Ng, Ruiying Chen, Dorothy Hu, Shawn Berry, Roland Baron, Francesca Gori
Proc Natl Acad Sci U S A. 2019 Jul 9; 116(28): 14138–14143. Published online 2019 Jun 25. doi: 10.1073/pnas.1900881116
PMCID:
PMC6628642
ArticlePDF–1.4M
3.
Rapid degradation of progressive ankylosis protein (ANKH) in craniometaphyseal dysplasia
Jitendra Kanaujiya, Edward Bastow, Raj Luxmi, Zhifang Hao, Dimitrios Zattas, Mark Hochstrasser, Ernst J. Reichenberger, I-Ping Chen
Sci Rep. 2018; 8: 15710. Published online 2018 Oct 24. doi: 10.1038/s41598-018-34157-5
PMCID:
PMC6200807
ArticlePDF–2.1M
4.
Analysis of 2 novel mutations of PHEX gene inducing X-linked dominant hypophosphatemia rickets in 2 families: Two case reports
Yue Gao, Zhi-Min Wang, Xia-Lian Li
Medicine (Baltimore) 2018 Aug; 97(31): e11453. Published online 2018 Aug 3. doi: 10.1097/MD.0000000000011453
PMCID:
PMC6081144
ArticlePDF–573K
5.
Dental Anomalies Associated with Craniometaphyseal Dysplasia
I.-P. Chen, A. Tadinada, E.H. Dutra, A. Utreja, F. Uribe, E.J. Reichenberger
J Dent Res. 2014 Jun; 93(6): 553–558. Published online 2014 Mar 24. doi: 10.1177/0022034514529304
PMCID:
PMC4023465
ArticlePDF–575K
6.
Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13
Cecilia Giunta, Nursel H. Elçioglu, Beate Albrecht, Georg Eich, Céline Chambaz, Andreas R. Janecke, Heather Yeowell, MaryAnn Weis, David R. Eyre, Marius Kraenzlin, Beat Steinmann
Am J Hum Genet. 2008 Jun 6; 82(6): 1290–1305. Published online 2008 May 30. doi: 10.1016/j.ajhg.2008.05.001
PMCID:
PMC2427271
ArticlePDF–1.4M
7.
Toward an understanding of the short bone phenotype associated with multiple osteochondromas
Kevin B. Jones, Manasi Datar, Sandhya Ravichandran, Huifeng Jin, Elizabeth Jurrus, Ross Whitaker, Mario R. Capecchi
J Orthop Res. Author manuscript; available in PMC 2014 Apr 1.
Published in final edited form as: J Orthop Res. 2013 Apr; 31(4): 651–657. Published online 2012 Nov 28. doi: 10.1002/jor.22280
PMCID:
PMC3683979
ArticlePDF–3.5M
8.
A Phe377del mutation in ANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD)
I-Ping Chen, Liping Wang, Xi Jiang, Hector Leonardo Aguila, Ernst J. Reichenberger
Hum Mol Genet. 2011 Mar 1; 20(5): 948–961. Published online 2010 Dec 13. doi: 10.1093/hmg/ddq541
PMCID:
PMC3033186
ArticlePDF–472K
9.
Arachnoid cyst and chronic subdural haematoma in a child with osteogenesis imperfecta type III resulting from the substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen.
W G Cole, T P Lam
J Med Genet. 1996 Mar; 33(3): 193–196. doi: 10.1136/jmg.33.3.193
PMCID:
PMC1051866
SummaryPage BrowsePDF–1.3M
10.
Deletion of Zfp521 rescues the growth plate phenotype in a mouse model of Jansen metaphyseal chondrodysplasia
Dutmanee Seriwatanachai, Michael J. Densmore, Tadatoshi Sato, Diego Correa, Lynn Neff, Roland Baron, Beate Lanske
FASEB J. 2011 Sep; 25(9): 3057–3067. doi: 10.1096/fj.11-183277
PMCID:
PMC3157684
Article

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