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

Year Number of Results
1946 1
1947 1
1948 2
1950 3
1952 1
1954 1
1956 1
1959 2
1961 1
1963 1
1964 1
1966 4
1968 1
1969 4
1970 1
1971 1
1972 1
1973 1
1974 1
1975 15
1976 11
1977 11
1978 8
1979 9
1980 12
1981 18
1982 14
1983 24
1984 22
1985 21
1986 17
1987 24
1988 22
1989 25
1990 25
1991 37
1992 23
1993 41
1994 34
1995 54
1996 48
1997 60
1998 58
1999 63
2000 61
2001 66
2002 67
2003 67
2004 74
2005 83
2006 92
2007 95
2008 78
2009 81
2010 92
2011 131
2012 137
2013 137
2014 174
2015 150
2016 178
2017 188
2018 169
2019 191
2020 192
2021 214
2022 183
2023 130
2024 71

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3,397 results

Results by year

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Quoted phrase not found in phrase index: "Hyperphosphatasemia tarda"
Page 1
Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.
Stembalska A, Dudarewicz L, Śmigiel R. Stembalska A, et al. Adv Clin Exp Med. 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166. Adv Clin Exp Med. 2021. PMID: 34019743 Free article. Review.
It is crucial to distinguish skeletal dysplasias and correctly diagnose the disease to establish the prognosis and achieve better management. It is possible to use prenatal ultrasonography to observe predictors of lethality, such as a bell-shaped thorax, short ribs, …
It is crucial to distinguish skeletal dysplasias and correctly diagnose the disease to establish the prognosis and achieve better management …
Acrodysostosis.
Silve C, Clauser E, Linglart A. Silve C, et al. Horm Metab Res. 2012 Sep;44(10):749-58. doi: 10.1055/s-0032-1316330. Epub 2012 Jul 19. Horm Metab Res. 2012. PMID: 22815067 Review.
Second, we will describe recent results explaining the pathogenesis of acrodysostosis with hormonal resistance (ADOHR). Finally, we will discuss the similarities and differences observed comparing patients with ADOHR and other diseases resulting from defects in the PTHR1 s …
Second, we will describe recent results explaining the pathogenesis of acrodysostosis with hormonal resistance (ADOHR). Finally, we will dis …
Albers-Schönberg disease.
Keng LT, Liang SK. Keng LT, et al. Korean J Intern Med. 2019 Sep;34(5):1167-1168. doi: 10.3904/kjim.2018.026. Epub 2018 May 16. Korean J Intern Med. 2019. PMID: 29761793 Free PMC article. No abstract available.
Osteopetrosis: Gene-based nosology and significance Dysosteosclerosis.
Turan S. Turan S. Bone. 2023 Feb;167:116615. doi: 10.1016/j.bone.2022.116615. Epub 2022 Nov 17. Bone. 2023. PMID: 36402365
Cranial base sclerosis can lead to cranial nerve palsies such as optic atrophy, and may be the initial presentation, though not observed with SLC29A3-associated DSS. Gene-specific extra-skeletal features can be the main complication in some forms of DSS such as CSF1R- asso …
Cranial base sclerosis can lead to cranial nerve palsies such as optic atrophy, and may be the initial presentation, though not observed …
Opsismodysplasia.
Lewis LE, Ramesh Bhat Y, Naik P, Sethi K, Girisha KM. Lewis LE, et al. Indian J Pediatr. 2010 May;77(5):567-8. doi: 10.1007/s12098-010-0043-z. Epub 2010 Mar 19. Indian J Pediatr. 2010. PMID: 20422326
This is the first report of opsismodysplasia from India. Significant observation was antenatal polyhydramnios....
This is the first report of opsismodysplasia from India. Significant observation was antenatal polyhydramnios....
Fibrous dysplasia.
Lietman SA, Levine MA. Lietman SA, et al. Pediatr Endocrinol Rev. 2013 Jun;10 Suppl 2:389-96. Pediatr Endocrinol Rev. 2013. PMID: 23858622 Review.
The identification of activating mutations in GNAS in a subset of human GH-secreting pituitary tumors and autonomously functioning human thyroid tumors provided the initial basis for understanding the molecular pathophysiology of McCune-Albright syndrome and fibrous dysplasia. Th …
The identification of activating mutations in GNAS in a subset of human GH-secreting pituitary tumors and autonomously functioning human thy …
Tracheobronchopathia Osteochondroplastica: A Case Report.
Zhang YW, Zhu WF, Shi QM. Zhang YW, et al. Ear Nose Throat J. 2022 Sep;101(8):NP341-NP344. doi: 10.1177/0145561320969445. Epub 2020 Oct 30. Ear Nose Throat J. 2022. PMID: 33124932 Free article.
Nodular processes with smooth surface mucosa and detached bronchial mucosa were observed. The presence of TO was confirmed by pathological examination. ...
Nodular processes with smooth surface mucosa and detached bronchial mucosa were observed. The presence of TO was confirmed by patholo …
Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4.
Markova T, Kenis V, Melchenko E, Alieva A, Nagornova T, Orlova A, Ogorodova N, Shchagina O, Polyakov A, Dadali E, Kutsev S. Markova T, et al. Genes (Basel). 2022 Aug 24;13(9):1512. doi: 10.3390/genes13091512. Genes (Basel). 2022. PMID: 36140680 Free PMC article.
Based on the clinical and genetic analysis of our sample of patients, two main MED type 4 phenotypes with early and late clinical manifestations were identified. An early and more severe form of the disease was observed in patients with the c.835C > T variant (p.Arg279T …
Based on the clinical and genetic analysis of our sample of patients, two main MED type 4 phenotypes with early and late clinical manifestat …
Clinical Characteristics of Tracheobronchopathia Osteochondroplastica.
Luo T, Zhou H, Meng J. Luo T, et al. Respir Care. 2019 Feb;64(2):196-200. doi: 10.4187/respcare.05867. Epub 2018 Sep 4. Respir Care. 2019. PMID: 30181364 Free article.
Bronchoscopy revealed typical accumulation of diffuse cartilaginous and osseous nodules of TO, and 9 had observable tracheal stenosis. Histopathologic results included the presence of chronic inflammation (n = 47), ossification (n = 38), and cartilage formation (n = 10). . …
Bronchoscopy revealed typical accumulation of diffuse cartilaginous and osseous nodules of TO, and 9 had observable tracheal stenosis …
3,397 results