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Year Number of Results
1946 8
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1948 2
1949 9
1950 6
1951 14
1952 12
1953 15
1954 24
1955 21
1956 20
1957 26
1958 29
1959 28
1960 28
1961 27
1962 29
1963 55
1964 149
1965 163
1966 93
1967 136
1968 199
1969 189
1970 260
1971 319
1972 424
1973 509
1974 703
1975 855
1976 833
1977 868
1978 877
1979 978
1980 975
1981 1034
1982 995
1983 1260
1984 1341
1985 1412
1986 1553
1987 1595
1988 1664
1989 1940
1990 2081
1991 2062
1992 2343
1993 2493
1994 2540
1995 2788
1996 2791
1997 3023
1998 3268
1999 3433
2000 3618
2001 3772
2002 4001
2003 4641
2004 4954
2005 5466
2006 5817
2007 6418
2008 6543
2009 6638
2010 7130
2011 7582
2012 8330
2013 9252
2014 9760
2015 10153
2016 10254
2017 10543
2018 10627
2019 11229
2020 14789
2021 15991
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2023 11607
2024 4434

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229,533 results

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Quoted phrase not found in phrase index: "Microcephaly-seizures-intellectual disability-heart disease 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 the …
PURPOSE OF REVIEW: To provide an update on recent developments regarding acquired, antibody-mediated, neuromuscular hyperexcitability syn
Understanding COPD-overlap syndromes.
Poh TY, Mac Aogáin M, Chan AK, Yii AC, Yong VF, Tiew PY, Koh MS, Chotirmall SH. Poh TY, et al. Expert Rev Respir Med. 2017 Apr;11(4):285-298. doi: 10.1080/17476348.2017.1305895. Epub 2017 Mar 24. Expert Rev Respir Med. 2017. PMID: 28282995 Review.
Chronic obstructive pulmonary disease accounts for a large burden of lung disease. It can 'overlap' with other respiratory diseases including bronchiectasis, fibrosis and obstructive sleep apnea (OSA). ...In this light, it is important to recognize and differ …
Chronic obstructive pulmonary disease accounts for a large burden of lung disease. It can 'overlap' with other respiratory …
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 prevalenc …
VEXAS ( V acuoles, E 1 enzyme, X -linked, A utoinflammatory, S omatic) syndrome is a newly identified disease caused by somati …
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 …
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 …
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. A wide variety of syndromes are associated with cerebrovascular diseases. Multidisciplinary care is helpful to ensure comprehensive evaluation a …
Patients with cerebrovascular syndromes are at risk for additional concerns associated with their syndrome. A wide variety of …
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 …
Defining anti-synthetase syndrome: a systematic literature review.
Zanframundo G, Faghihi-Kashani S, Scirè CA, Bonella F, Corte TJ, Doyle TJ, Fiorentino D, Gonzalez-Gay MA, Hudson M, Kuwana M, Lundberg IE, Mammen A, McHugh N, Miller FW, Monteccucco C, Oddis CV, Rojas-Serrano J, Schmidt J, Selva-O'Callaghan A, Werth VP, Sakellariou G, Aggarwal R, Cavagna L. Zanframundo G, et al. Clin Exp Rheumatol. 2022 Feb;40(2):309-319. doi: 10.55563/clinexprheumatol/8xj0b9. Epub 2022 Feb 25. Clin Exp Rheumatol. 2022. PMID: 35225224 Free PMC article.
OBJECTIVES: Anti-synthetase syndrome (ASSD) is a heterogeneous autoimmune disease characterised by multi-system involvement with a wide variety of manifestations. ...
OBJECTIVES: Anti-synthetase syndrome (ASSD) is a heterogeneous autoimmune disease characterised by multi-system involvement wi …
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 …
Clinical approach to neuro-rheumatology.
Goglin S, Cho TA. Goglin S, et al. J Neurol Sci. 2021 Dec 15;431:120048. doi: 10.1016/j.jns.2021.120048. Epub 2021 Nov 6. J Neurol Sci. 2021. PMID: 34768134 Review.
Recognizing the neurologic manifestations of systemic rheumatologic diseases and certain isolated autoimmune neurologic diseases poses challenges to the clinician. ...Judicious use of laboratory and radiographic studies can help confirm suspected diagnoses. This art …
Recognizing the neurologic manifestations of systemic rheumatologic diseases and certain isolated autoimmune neurologic diseases
229,533 results
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