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

Year Number of Results
1947 1
1951 1
1954 2
1955 3
1956 1
1959 2
1960 1
1961 3
1962 2
1963 2
1964 1
1965 4
1966 15
1967 16
1968 13
1969 20
1970 24
1971 45
1972 29
1973 48
1974 64
1975 262
1976 272
1977 248
1978 275
1979 301
1980 320
1981 350
1982 413
1983 534
1984 637
1985 691
1986 776
1987 931
1988 1078
1989 1248
1990 1383
1991 1495
1992 1637
1993 1921
1994 2051
1995 2176
1996 2347
1997 2453
1998 2750
1999 2847
2000 3018
2001 3277
2002 3474
2003 3963
2004 4456
2005 5181
2006 5660
2007 6204
2008 6836
2009 7138
2010 7930
2011 8503
2012 9136
2013 9899
2014 10140
2015 10453
2016 10796
2017 11459
2018 11663
2019 11722
2020 16649
2021 19095
2022 17033
2023 14279
2024 6046

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219,149 results

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Quoted phrase not found in phrase index: "Houge-Janssens syndrome 2"
Page 1
The Autism Spectrum: Behavioral, Psychiatric and Genetic Associations.
Genovese A, Butler MG. Genovese A, et al. Genes (Basel). 2023 Mar 9;14(3):677. doi: 10.3390/genes14030677. Genes (Basel). 2023. PMID: 36980949 Free PMC article. Review.
We review common behavioral, psychiatric and genetic associations related to ASD. Autism affects about 2% of children with 4:1 male-to-female ratio and a heritability estimate between 70 and 90%. ...An estimated 50% of individuals with ASD are diagnosed with chromosome del …
We review common behavioral, psychiatric and genetic associations related to ASD. Autism affects about 2% of children with 4:1 male-t …
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 …
Overtraining Syndrome Symptoms and Diagnosis in Athletes: Where Is the Research? A Systematic Review.
Weakley J, Halson SL, Mujika I. Weakley J, et al. Int J Sports Physiol Perform. 2022 May 1;17(5):675-681. doi: 10.1123/ijspp.2021-0448. Epub 2022 Mar 23. Int J Sports Physiol Perform. 2022. PMID: 35320774 Free article.
CONTEXT: To understand overtraining syndrome (OTS), it is important to detail the physiological and psychological changes that occur in athletes. ...METHODS: Databases were searched for studies that were (1) original investigations; (2) English, full-text articles; …
CONTEXT: To understand overtraining syndrome (OTS), it is important to detail the physiological and psychological changes that occur …
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 with a wi …
Craniosynostosis: Neonatal Perspectives.
Bautista G. Bautista G. Neoreviews. 2021 Apr;22(4):e250-e257. doi: 10.1542/neo.22-4-e250. Neoreviews. 2021. PMID: 33795400
Craniosynostosis is the premature fusion of 1 or more sutures that normally separate the bony plates of an infant's skull and occurs in about 1 in 2,000 to 2,500 live births. Primary or congenital craniosynostoses represent the majority of cases and consist of singl …
Craniosynostosis is the premature fusion of 1 or more sutures that normally separate the bony plates of an infant's skull and occurs in abou …
Management guidelines for low anterior resection syndrome - the MANUEL project.
Christensen P, Im Baeten C, Espín-Basany E, Martellucci J, Nugent KP, Zerbib F, Pellino G, Rosen H; MANUEL Project Working Group. Christensen P, et al. Colorectal Dis. 2021 Feb;23(2):461-475. doi: 10.1111/codi.15517. Epub 2021 Jan 24. Colorectal Dis. 2021. PMID: 33411977 Free PMC article.
AIM: Little is known about the pathophysiology of low anterior resection syndrome (LARS), and evidence concerning the management of patients diagnosed with this condition is scarce. ...METHOD: The 'Management guidelines for low anterior resection syndrome' (MANUEL) …
AIM: Little is known about the pathophysiology of low anterior resection syndrome (LARS), and evidence concerning the management of p …
Epigenetic Causes of Overgrowth Syndromes.
Lui JC, Baron J. Lui JC, et al. J Clin Endocrinol Metab. 2024 Jan 18;109(2):312-320. doi: 10.1210/clinem/dgad420. J Clin Endocrinol Metab. 2024. PMID: 37450557 Free PMC article. Review.
As the genetic etiology of these disorders have been elucidated, a surprising pattern has emerged. Multiple monogenic overgrowth syndromes result from variants in epigenetic regulators: variants in histone methyltransferases NSD1 and EZH2 cause Sotos syndrome and We …
As the genetic etiology of these disorders have been elucidated, a surprising pattern has emerged. Multiple monogenic overgrowth syndrome …
Defining RASopathy.
Rauen KA. Rauen KA. Dis Model Mech. 2022 Feb 1;15(2):dmm049344. doi: 10.1242/dmm.049344. Epub 2022 Feb 1. Dis Model Mech. 2022. PMID: 35103797 Free PMC article.
The term RASopathy was originally created to describe a phenotypically similar group of medical genetic syndromes caused by germline pathogenic variants in components of the RAS/mitogen-activated protein kinase (RAS/MAPK) pathway. In defining a RASopathy syndrome, o …
The term RASopathy was originally created to describe a phenotypically similar group of medical genetic syndromes caused by germline …
Dystonia.
De Pablo-Fernandez E, Warner TT. De Pablo-Fernandez E, et al. Br Med Bull. 2017 Sep 1;123(1):91-102. doi: 10.1093/bmb/ldx019. Br Med Bull. 2017. PMID: 28910989 Review.
AREAS OF AGREEMENT: A recent consensus classification, including the assessment of phenomenology and identification of the dystonia syndromes, has provided a helpful tool for the clinical assessment. ...
AREAS OF AGREEMENT: A recent consensus classification, including the assessment of phenomenology and identification of the dystonia syndr …
Hemihyperplasia syndromes.
Dalal AB, Phadke SR, Pradhan M, Sharda S. Dalal AB, et al. Indian J Pediatr. 2006 Jul;73(7):609-15. doi: 10.1007/BF02759927. Indian J Pediatr. 2006. PMID: 16877856
There is considerable confusion regarding their classification and ascertainment into various syndromes. We tried to look into the various aspects of hemihyperplasia syndromes. ...The remaining 3 cases had miscellaneous disorders with limb asymmetry, namely Neurofib …
There is considerable confusion regarding their classification and ascertainment into various syndromes. We tried to look into the va …
219,149 results
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