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Year Number of Results
1962 1
1963 87
1964 163
1965 101
1966 119
1967 195
1968 219
1969 261
1970 282
1971 359
1972 387
1973 444
1974 514
1975 403
1976 465
1977 435
1978 505
1979 574
1980 592
1981 588
1982 646
1983 827
1984 930
1985 974
1986 1070
1987 1621
1988 2666
1989 3161
1990 3289
1991 3367
1992 3603
1993 3734
1994 3976
1995 3923
1996 4290
1997 4286
1998 4485
1999 4640
2000 5217
2001 5458
2002 5417
2003 6002
2004 6316
2005 6594
2006 7375
2007 7192
2008 7165
2009 6934
2010 7364
2011 7696
2012 8181
2013 8773
2014 8885
2015 8681
2016 9138
2017 9123
2018 8292
2019 7798
2020 11148
2021 11777
2022 10322
2023 8967
2024 2788

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231,915 results

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The following term was not found in PubMed: Otofacioosseous-gonadal
Page 1
VEXAS Syndrome-A Review of Pathophysiology, Presentation, and Prognosis.
Koster MJ, Samec MJ, Warrington KJ. Koster MJ, et al. J Clin Rheumatol. 2023 Sep 1;29(6):298-306. doi: 10.1097/RHU.0000000000001905. Epub 2022 Oct 17. J Clin Rheumatol. 2023. PMID: 36251488 Review.
VEXAS ( V acuoles, E 1 enzyme, X -linked, A utoinflammatory, S omatic) syndrome is a newly identified disease caused by somatic mutations in the UBA1 gene resulting in refractory autoinflammatory features, frequently accompanied by cytopenias. Although the prevalence of th …
VEXAS ( V acuoles, E 1 enzyme, X -linked, A utoinflammatory, S omatic) syndrome is a newly identified disease caused by somatic mutat …
Neuromuscular hyperexcitability syndromes.
De Wel B, Claeys KG. De Wel B, et al. Curr Opin Neurol. 2021 Oct 1;34(5):714-720. doi: 10.1097/WCO.0000000000000963. Curr Opin Neurol. 2021. PMID: 34914668 Review.
PURPOSE OF REVIEW: To provide an update on recent developments regarding acquired, antibody-mediated, neuromuscular hyperexcitability syndromes, including Isaac's and Morvan's syndromes, cramp-fasciculation syndrome and rippling muscle disease, and their gene …
PURPOSE OF REVIEW: To provide an update on recent developments regarding acquired, antibody-mediated, neuromuscular hyperexcitability syn …
[VEXAS syndrome].
Zeeck M, Kötter I, Krusche M. Zeeck M, et al. Z Rheumatol. 2022 Nov;81(9):782-786. doi: 10.1007/s00393-022-01169-6. Epub 2022 Feb 18. Z Rheumatol. 2022. PMID: 35179640 Free PMC article. Review. German.
The VEXAS syndrome is a recently identified autoinflammatory systemic disease. ...The patients present with a plethora of inflammatory clinical symptoms, often with overlap of hematologic, dermatologic, and rheumatologic syndromes. In particular, the presence of cyt …
The VEXAS syndrome is a recently identified autoinflammatory systemic disease. ...The patients present with a plethora of inflammator …
Sunflower syndrome: a poorly understood photosensitive epilepsy.
Geenen KR, Patel S, Thiele EA. Geenen KR, et al. Dev Med Child Neurol. 2021 Mar;63(3):259-262. doi: 10.1111/dmcn.14723. Epub 2020 Oct 31. Dev Med Child Neurol. 2021. PMID: 33135153 Free article. Review.
Sunflower syndrome is a rare photosensitive epilepsy which has received little attention in recent medical literature. ...Further study is required to determine the syndrome's natural history and to identify more effective treatment options. ...
Sunflower syndrome is a rare photosensitive epilepsy which has received little attention in recent medical literature. ...Further stu …
Hemangioma-related syndromes.
Valdebran M, Wine Lee L. Valdebran M, et al. Curr Opin Pediatr. 2020 Aug;32(4):498-505. doi: 10.1097/MOP.0000000000000925. Curr Opin Pediatr. 2020. PMID: 32692048 Review.
The current review will discuss recent clinical advances in syndromes associated with segmental hemangiomas, including PHACE and LUMBAR syndrome. ...Segmental hemangiomas of the head and neck region may indicate a risk of PHACE syndrome and associated develop …
The current review will discuss recent clinical advances in syndromes associated with segmental hemangiomas, including PHACE and LUMB …
Syndromic Hydrocephalus.
Varagur K, Sanka SA, Strahle JM. Varagur K, et al. Neurosurg Clin N Am. 2022 Jan;33(1):67-79. doi: 10.1016/j.nec.2021.09.006. Neurosurg Clin N Am. 2022. PMID: 34801143 Free PMC article. Review.
Hydrocephalus, the abnormal accumulation and impaired circulation/clearance of cerebrospinal fluid, occurs as a common phenotypic feature of a diverse group of genetic syndromes. In this review, we outline the genetic mutations, pathogenesis, and accompanying symptoms unde …
Hydrocephalus, the abnormal accumulation and impaired circulation/clearance of cerebrospinal fluid, occurs as a common phenotypic feature of …
Neurovascular Syndromes.
Keith KA, Reed LK, Nguyen A, Qaiser R. Keith KA, et al. Neurosurg Clin N Am. 2022 Jan;33(1):135-148. doi: 10.1016/j.nec.2021.09.010. Neurosurg Clin N Am. 2022. PMID: 34801137 Review.
Patients with cerebrovascular syndromes are at risk for additional concerns associated with their syndrome. ...Precise diagnosis and appreciation for the underlying syndrome is critical for effective cerebrovascular and broader care. ...
Patients with cerebrovascular syndromes are at risk for additional concerns associated with their syndrome. ...Precise diagnos …
Molecular Mechanisms Involved in Craniosynostosis.
Yapijakis C, Pachis N, Sotiriadou T, Vaila C, Michopoulou V, Vassiliou S. Yapijakis C, et al. In Vivo. 2023 Jan-Feb;37(1):36-46. doi: 10.21873/invivo.13052. In Vivo. 2023. PMID: 36593018 Free PMC article. Review.
In most cases (85%), craniosynostosis is presented as sporadic anomaly (non-syndromic craniosynostosis), while in other cases (15%) as part of syndromes (syndromic craniosynostosis). ...Most common syndromes of craniosynostosis include Pfeiffer, Apert, …
In most cases (85%), craniosynostosis is presented as sporadic anomaly (non-syndromic craniosynostosis), while in other cases (15%) a …
[Dystonia].
Løkkegaard A, Danielsen EH. Løkkegaard A, et al. Ugeskr Laeger. 2019 May 13;181(20):V06180403. Ugeskr Laeger. 2019. PMID: 31124448 Free article. Review. Danish.
Dystonia is a rare and heterogeneous movement disorder defined as a syn-drome of sustained muscle contractions with twisting and abnormal postures, and tremor. Dystonia is a collective term for different syndromes, primary idiopathic forms as well as genetic and secondary …
Dystonia is a rare and heterogeneous movement disorder defined as a syn-drome of sustained muscle contractions with twisting and abnormal po …
[Hereditary hearing loss].
Tropitzsch A, Schade-Mann T, Gamerdinger P. Tropitzsch A, et al. HNO. 2023 Feb;71(2):131-142. doi: 10.1007/s00106-022-01254-x. Epub 2022 Dec 16. HNO. 2023. PMID: 36526931 Review. German.
To date, more than 220 genes for hearing loss have been identified and more than 600 syndromes with hearing loss described. This review article explains the classification of genetic hearing loss into syndromic versus non-syndromic forms and the modes of inhe …
To date, more than 220 genes for hearing loss have been identified and more than 600 syndromes with hearing loss described. This revi …
231,915 results
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