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2025

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1963 1
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1991 2
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2001 3
2005 1
2007 1
2008 2
2009 1
2010 1
2011 1
2012 1
2013 2
2014 3
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42 results

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Page 1
GPX4 in cell death, autophagy, and disease.
Xie Y, Kang R, Klionsky DJ, Tang D. Xie Y, et al. Autophagy. 2023 Oct;19(10):2621-2638. doi: 10.1080/15548627.2023.2218764. Epub 2023 Jun 4. Autophagy. 2023. PMID: 37272058 Free PMC article. Review.
Additionally, the R152H mutation in GPX4 can promote the development of Sedaghatian-type spinal metaphyseal dysplasia, a rare and fatal disease in newborns. Here, we discuss the roles of classical GPX4 functions as well as emerging GPX4-regulated processes in cell d …
Additionally, the R152H mutation in GPX4 can promote the development of Sedaghatian-type spinal metaphyseal dysplasia, a rare …
Spondylo-epi-metaphyseal dysplasia.
Cormier-Daire V. Cormier-Daire V. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):33-44. doi: 10.1016/j.berh.2007.12.009. Best Pract Res Clin Rheumatol. 2008. PMID: 18328979 Review.
Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3.
Simsek-Kiper PO, Jacob P, Upadhyai P, Taşkıran ZE, Guleria VS, Karaosmanoglu B, Imren G, Gocmen R, Bhavani GS, Kausthubham N, Shah H, Utine GE, Boduroglu K, Girisha KM. Simsek-Kiper PO, et al. Hum Mutat. 2022 Dec;43(12):2116-2129. doi: 10.1002/humu.24478. Epub 2022 Oct 8. Hum Mutat. 2022. PMID: 36150098 Free PMC article. Review.
Sfrp4 and the Biology of Cortical Bone.
Chen R, Baron R, Gori F. Chen R, et al. Curr Osteoporos Rep. 2022 Apr;20(2):153-161. doi: 10.1007/s11914-022-00727-w. Epub 2022 Feb 19. Curr Osteoporos Rep. 2022. PMID: 35182301 Free PMC article. Review.
RECENT FINDINGS: SFRP4 loss-of function mutations cause Pyle disease, a rare skeletal disorder characterized by cortical bone thinning and increased fragility fractures despite increased trabecular bone density. ...
RECENT FINDINGS: SFRP4 loss-of function mutations cause Pyle disease, a rare skeletal disorder characterized by cortical bone …
Pyle metaphyseal dysplasia in an African child: Case report and review of the literature.
Wonkam A, Makubalo N, Roberts T, Chetty M. Wonkam A, et al. S Afr Med J. 2016 May 25;106(6 Suppl 1):S110-3. doi: 10.7196/SAMJ.2016.v106i6.11011. S Afr Med J. 2016. PMID: 27245543 Review.
Pyle disease (OMIM 265900), also known as metaphyseal dysplasia, is a rare autosomal recessive disorder with no known gene mutation. We report a case of Pyle disease in a 7-year-old African boy of mixed ancestry who presented with finger
Pyle disease (OMIM 265900), also known as metaphyseal dysplasia, is a rare autosomal recessive disorder with no
Musculoskeletal imaging manifestations of beta-thalassemia.
Hajimoradi M, Haseli S, Abadi A, Chalian M. Hajimoradi M, et al. Skeletal Radiol. 2021 Sep;50(9):1749-1762. doi: 10.1007/s00256-021-03732-9. Epub 2021 Feb 9. Skeletal Radiol. 2021. PMID: 33559685 Review.
Musculoskeletal manifestations include osteopenia, coarse trabeculae, bone expansion, synovitis, joint effusion, and metaphyseal dysplasia. These complications have long-lasting effects on the skeletal growth pattern resulting in bone deformity, short stature, prema …
Musculoskeletal manifestations include osteopenia, coarse trabeculae, bone expansion, synovitis, joint effusion, and metaphyseal d
Osteosclerotic metaphyseal dysplasia with extensive interstitial pulmonary lesions: a case report and literature review.
Zheng H, Cai J, Wang L, He X. Zheng H, et al. Skeletal Radiol. 2015 Oct;44(10):1529-33. doi: 10.1007/s00256-015-2190-9. Epub 2015 Jun 18. Skeletal Radiol. 2015. PMID: 26084987 Review.
Osteosclerotic metaphyseal dysplasia (OMD) is a very rare sclerosing bone disorder. To date, four cases have been documented in three reports. ...
Osteosclerotic metaphyseal dysplasia (OMD) is a very rare sclerosing bone disorder. To date, four cases have been documented i …
The role of ANKH in pathologic mineralization of cartilage.
Williams CJ. Williams CJ. Curr Opin Rheumatol. 2016 Mar;28(2):145-51. doi: 10.1097/BOR.0000000000000247. Curr Opin Rheumatol. 2016. PMID: 26599446 Review.
ANKH mutations have been reported in inherited human disorders such as familial calcium pyrophosphate deposition disease (CPPD) and cranial metaphyseal dysplasia; however, research into the function of the ANKH protein has been more challenging. ...
ANKH mutations have been reported in inherited human disorders such as familial calcium pyrophosphate deposition disease (CPPD) and cranial …
A missense mutation in DDRGK1 gene associated to Shohat-type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature.
Franceschi R, Iascone M, Maitz S, Marchetti D, Mariani M, Selicorni A, Soffiati M, Maines E. Franceschi R, et al. Am J Med Genet A. 2022 Aug;188(8):2434-2437. doi: 10.1002/ajmg.a.62857. Epub 2022 Jun 7. Am J Med Genet A. 2022. PMID: 35670300 Review.
Spondylo-epi-metaphyseal dysplasia Shohat type (SEMDSH, OMIM # 602557) is a rare skeletal dysplasia. Until recently, only eight patients of five families have been reported. ...
Spondylo-epi-metaphyseal dysplasia Shohat type (SEMDSH, OMIM # 602557) is a rare skeletal dysplasia. Until recently, only eigh …
42 results