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Year Number of Results
1944 1
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1946 18
1947 19
1948 12
1949 17
1950 15
1951 31
1952 24
1953 29
1954 34
1955 35
1956 37
1957 44
1958 49
1959 45
1960 56
1961 44
1962 55
1963 111
1964 332
1965 406
1966 300
1967 370
1968 471
1969 505
1970 612
1971 686
1972 803
1973 942
1974 1125
1975 1422
1976 1460
1977 1514
1978 1508
1979 1734
1980 1783
1981 1941
1982 1971
1983 2383
1984 2512
1985 2678
1986 2976
1987 3134
1988 3213
1989 3766
1990 3971
1991 4188
1992 4569
1993 4718
1994 4937
1995 5308
1996 5459
1997 5726
1998 6144
1999 6377
2000 6779
2001 7124
2002 7415
2003 8419
2004 8917
2005 9840
2006 10688
2007 11612
2008 12352
2009 12648
2010 13699
2011 14656
2012 16011
2013 17480
2014 18019
2015 18131
2016 18204
2017 18426
2018 18486
2019 19176
2020 24067
2021 25985
2022 23133
2023 19413
2024 6268

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411,622 results

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Quoted phrase not found in phrase index: "Lessel-kubisch syndrome"
Page 1
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-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 …
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 …
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 …
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Diñeiro M, Capín R, Cifuentes GÁ, Fernández-Vega B, Villota E, Otero A, Santiago A, Pruneda PC, Castillo D, Viejo-Díaz M, Hernando I, Durán NS, Álvarez R, Lago CG, Ordóñez GR, Fernández-Vega Á, Cabanillas R, Cadiñanos J. Diñeiro M, et al. Acta Ophthalmol. 2020 Dec;98(8):e1034-e1048. doi: 10.1111/aos.14479. Epub 2020 Jun 1. Acta Ophthalmol. 2020. PMID: 32483926 Free PMC article.
A total of 28.9% of genetically diagnosed cases (13/45) were syndromic and, of those, in 30.8% (4/13) extraophthalmic features had been overlooked and/or not related to visual impairment before genetic testing, including cases with Mainzer-Saldino, Bardet-Biedl, mucolipido …
A total of 28.9% of genetically diagnosed cases (13/45) were syndromic and, of those, in 30.8% (4/13) extraophthalmic features had be …
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 …
Gut fermentation syndrome: A systematic review of case reports.
Bayoumy AB, Mulder CJJ, Mol JJ, Tushuizen ME. Bayoumy AB, et al. United European Gastroenterol J. 2021 Apr;9(3):332-342. doi: 10.1002/ueg2.12062. Epub 2021 Apr 22. United European Gastroenterol J. 2021. PMID: 33887125 Free PMC article.
BACKGROUND: The gut fermentation syndrome (GFS), also known as the endogenous alcohol fermentation syndrome or auto brewery syndrome, is a rare and underdiagnosed medical condition where consumed carbohydrates are converted to alcohol by the microbiota in the …
BACKGROUND: The gut fermentation syndrome (GFS), also known as the endogenous alcohol fermentation syndrome or auto brewery …
Pulmonaryrenal syndrome.
Hrušková Z, Tesař V. Hrušková Z, et al. Vnitr Lek. 2020 Spring;66(5):56-61. Vnitr Lek. 2020. PMID: 32942871 English.
Pulmonary syndrome is defined by occurrence of lung involvement (alveolar haemorrhage) in association with renal failure (with a typical crescentic necrotizing rapidly progressive glomerulonephritis). ...Newer therapeutic possibilities include especially rituximab even tho …
Pulmonary syndrome is defined by occurrence of lung involvement (alveolar haemorrhage) in association with renal failure (with a typi …
Unusual headache syndromes.
Queiroz LP. Queiroz LP. Headache. 2013 Jan;53(1):12-22. doi: 10.1111/head.12002. Headache. 2013. PMID: 23293865 Review.
OBJECTIVE/BACKGROUND: Some headache syndromes have few cases reported in the literature. Their clinical characteristics, pathogenesis, and treatment may have not been completely defined. ...FINDINGS: This paper reviewed the clinical characteristics, the pathogenesis, the d …
OBJECTIVE/BACKGROUND: Some headache syndromes have few cases reported in the literature. Their clinical characteristics, pathogenesis …
Overgrowth syndromes, diagnosis and management.
Klein SD, Nisbet A, Kalish JM. Klein SD, et al. Curr Opin Pediatr. 2023 Dec 1;35(6):620-630. doi: 10.1097/MOP.0000000000001298. Epub 2023 Oct 4. Curr Opin Pediatr. 2023. PMID: 37791807 Review.
PURPOSE OF REVIEW: This review will focus on the current knowledge of the diagnosis and management of overgrowth syndromes with specific focus on mosaic conditions and treatment strategies. RECENT FINDINGS: With the implementation of massively parallel sequencing, the gene …
PURPOSE OF REVIEW: This review will focus on the current knowledge of the diagnosis and management of overgrowth syndromes with speci …
411,622 results
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