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Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1975 1
1976 3
1977 3
1978 2
1979 2
1980 1
1981 2
1982 3
1983 5
1984 3
1985 5
1986 6
1987 4
1988 3
1989 4
1990 14
1991 5
1992 4
1993 12
1994 8
1995 16
1996 13
1997 16
1998 17
1999 22
2000 15
2001 12
2002 18
2003 20
2004 19
2005 21
2006 25
2007 36
2008 33
2009 25
2010 25
2011 46
2012 41
2013 53
2014 52
2015 62
2016 77
2017 77
2018 79
2019 68
2020 80
2021 82
2022 85
2023 69
2024 20

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1,156 results

Results by year

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Page 1
Achondroplasia: a comprehensive clinical review.
Pauli RM. Pauli RM. Orphanet J Rare Dis. 2019 Jan 3;14(1):1. doi: 10.1186/s13023-018-0972-6. Orphanet J Rare Dis. 2019. PMID: 30606190 Free PMC article. Review.
Current Overview of Osteogenesis Imperfecta.
Deguchi M, Tsuji S, Katsura D, Kasahara K, Kimura F, Murakami T. Deguchi M, et al. Medicina (Kaunas). 2021 May 10;57(5):464. doi: 10.3390/medicina57050464. Medicina (Kaunas). 2021. PMID: 34068551 Free PMC article. Review.
Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management.
Sawamoto K, Álvarez González JV, Piechnik M, Otero FJ, Couce ML, Suzuki Y, Tomatsu S. Sawamoto K, et al. Int J Mol Sci. 2020 Feb 23;21(4):1517. doi: 10.3390/ijms21041517. Int J Mol Sci. 2020. PMID: 32102177 Free PMC article. Review.
The deficiency of this enzyme accumulates the specific glycosaminoglycans (GAG), keratan sulfate, and chondroitin-6-sulfate mainly in bone, cartilage, and its extracellular matrix. GAG accumulation in these lesions leads to unique skeletal dysplasia in MPS IVA patie …
The deficiency of this enzyme accumulates the specific glycosaminoglycans (GAG), keratan sulfate, and chondroitin-6-sulfate mainly in bone, …
Expanding the phenome and variome of skeletal dysplasia.
Maddirevula S, Alsahli S, Alhabeeb L, Patel N, Alzahrani F, Shamseldin HE, Anazi S, Ewida N, Alsaif HS, Mohamed JY, Alazami AM, Ibrahim N, Abdulwahab F, Hashem M, Abouelhoda M, Monies D, Al Tassan N, Alshammari M, Alsagheir A, Seidahmed MZ, Sogati S, Aglan MS, Hamad MH, Salih MA, Hamed AA, Alhashmi N, Nabil A, Alfadli F, Abdel-Salam GMH, Alkuraya H, Peitee WO, Keng WT, Qasem A, Mushiba AM, Zaki MS, Fassad MR, Alfadhel M, Alexander S, Sabr Y, Temtamy S, Ekbote AV, Ismail S, Hosny GA, Otaify GA, Amr K, Al Tala S, Khan AO, Rizk T, Alaqeel A, Alsiddiky A, Singh A, Kapoor S, Alhashem A, Faqeih E, Shaheen R, Alkuraya FS. Maddirevula S, et al. Genet Med. 2018 Dec;20(12):1609-1616. doi: 10.1038/gim.2018.50. Epub 2018 Apr 5. Genet Med. 2018. PMID: 29620724 Free article.
Phenotypically, we note that our cohort spans 36 established phenotypic categories by the International Skeletal Dysplasia Nosology, as well as 18 novel skeletal dysplasia phenotypes that could not be classified under these categories, e.g., the novel …
Phenotypically, we note that our cohort spans 36 established phenotypic categories by the International Skeletal Dysplasia Nos …
Skeletal dysplasias.
Hurst JA, Firth HV, Smithson S. Hurst JA, et al. Semin Fetal Neonatal Med. 2005 Jun;10(3):233-41. doi: 10.1016/j.siny.2004.12.001. Semin Fetal Neonatal Med. 2005. PMID: 15878700 Review.
This review is intended to help the neonatologist who is asked to see a baby or speak to parents who are expecting a baby with signs of a generalised disturbance of bone growth and/or modelling. In this review, we will: define a skeletal dysplasia; discuss the prese …
This review is intended to help the neonatologist who is asked to see a baby or speak to parents who are expecting a baby with signs of a ge …
A primer on skeletal dysplasias.
Handa A, Nishimura G, Zhan MX, Bennett DL, El-Khoury GY. Handa A, et al. Jpn J Radiol. 2022 Mar;40(3):245-261. doi: 10.1007/s11604-021-01206-5. Epub 2021 Oct 25. Jpn J Radiol. 2022. PMID: 34693503 Free PMC article. Review.
Skeletal dysplasia encompasses a heterogeneous group of over 400 genetic disorders. ...
Skeletal dysplasia encompasses a heterogeneous group of over 400 genetic disorders. ...
Dysplasias in the Child's Spine.
Campbell JW. Campbell JW. Neurosurg Clin N Am. 2022 Jan;33(1S):e1-e10. doi: 10.1016/j.nec.2022.02.001. Epub 2022 Aug 6. Neurosurg Clin N Am. 2022. PMID: 36115686 Review.
Fetal Skeletal Disorders.
Schramm T, Mommsen H. Schramm T, et al. Ultraschall Med. 2018 Dec;39(6):610-634. doi: 10.1055/a-0660-9417. Epub 2018 Sep 6. Ultraschall Med. 2018. PMID: 30189431 English.
The disorders affect the extremities or parts of them (dysmelia), the whole skeleton (skeletal dysplasia), the skull (craniosynostosis) and the spine (dysostosis, caudal regression). ...The main diagnostic challenge concerning malformations of the limbs and craniosy …
The disorders affect the extremities or parts of them (dysmelia), the whole skeleton (skeletal dysplasia), the skull (craniosy …
Mucopolysaccharidosis IVA and glycosaminoglycans.
Khan S, Alméciga-Díaz CJ, Sawamoto K, Mackenzie WG, Theroux MC, Pizarro C, Mason RW, Orii T, Tomatsu S. Khan S, et al. Mol Genet Metab. 2017 Jan-Feb;120(1-2):78-95. doi: 10.1016/j.ymgme.2016.11.007. Epub 2016 Nov 29. Mol Genet Metab. 2017. PMID: 27979613 Free PMC article. Review.
Therefore, the undegraded substrates are stored primarily in cartilage and in its extracellular matrix (ECM), leading to a direct impact on cartilage and bone development, and successive systemic skeletal dysplasia. Chondrogenesis, the earliest phase of skeletal for …
Therefore, the undegraded substrates are stored primarily in cartilage and in its extracellular matrix (ECM), leading to a direct impact on …
1,156 results