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

Year Number of Results
1984 1
1988 2
1989 1
1991 3
1993 3
1994 3
1995 1
1997 1
1998 1
1999 1
2000 3
2001 1
2002 3
2003 2
2004 2
2005 3
2006 6
2007 2
2008 4
2009 7
2010 2
2011 7
2012 7
2013 12
2014 11
2015 12
2016 13
2017 18
2018 12
2019 17
2020 15
2021 12
2022 5
2023 10
2024 7

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176 results

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Page 1
A Cochrane review of the evidence for non-surgical interventions for flexible pediatric flat feet.
Evans AM, Rome K. Evans AM, et al. Eur J Phys Rehabil Med. 2011 Mar;47(1):69-89. Eur J Phys Rehabil Med. 2011. PMID: 21448121 Free article. Review.
The pediatric flat foot is often unnecessarily treated, being ill-defined and of uncertain prognosis. Contemporary management of the pediatric flat foot is directed algorithmically within this review, according to pain, age, flexibility; considering gender, weight, and joi …
The pediatric flat foot is often unnecessarily treated, being ill-defined and of uncertain prognosis. Contemporary management of the …
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
Leone MP, Morlino S, Nardella G, Pracella R, Giachino D, Celli L, Baldo D, Turolla L, Piccione M, Salzano E, Busè M, Lastella P, Zollino M, Cantone R, Grosso E, Zonta A, Pasini B, Piscopo C, De Maggio I, Priolo M, Mammi C, Foiadelli T, Trabatti C, Savasta S, Iolascon A, Ferraris A, Lodato V, Di Giosaffatte N, Majore S, Selicorni A, Petracca A, Fusco C, Celli M, Guarnieri V, Micale L, Castori M. Leone MP, et al. Hum Genet. 2023 Jun;142(6):785-808. doi: 10.1007/s00439-023-02547-z. Epub 2023 Apr 20. Hum Genet. 2023. PMID: 37079061
Adaptations of selected criteria reduced uncertainties on private Glycine substitutions, intronic variants predicted to affect the splicing, and null alleles with a downgraded PVS1 level of strength. ...
Adaptations of selected criteria reduced uncertainties on private Glycine substitutions, intronic variants predicted to affect the sp …
Orthostatic Intolerance and Chiari I Malformation.
Petracek LS, Rowe PC. Petracek LS, et al. Neurosurg Clin N Am. 2023 Jan;34(1):43-54. doi: 10.1016/j.nec.2022.09.002. Neurosurg Clin N Am. 2023. PMID: 36424063 Review.
Individuals with Chiari malformation can present with symptoms of fatigue, lightheadedness, and syncope-the cardinal features of orthostatic intolerance. Similar orthostatic symptoms can complicate the clinical course following Chiari decompression. The presence of orthost …
Individuals with Chiari malformation can present with symptoms of fatigue, lightheadedness, and syncope-the cardinal features of orthostatic …
Pediatric Disorders of Orthostatic Intolerance.
Stewart JM, Boris JR, Chelimsky G, Fischer PR, Fortunato JE, Grubb BP, Heyer GL, Jarjour IT, Medow MS, Numan MT, Pianosi PT, Singer W, Tarbell S, Chelimsky TC; Pediatric Writing Group of the American Autonomic Society. Stewart JM, et al. Pediatrics. 2018 Jan;141(1):e20171673. doi: 10.1542/peds.2017-1673. Epub 2017 Dec 8. Pediatrics. 2018. PMID: 29222399 Free PMC article. Review.
The medical management of OI is considered, which includes both nonpharmacologic and pharmacologic approaches. Finally, we discuss the prognosis and long-term implications of OI and indicate future directions for research and patient management....
The medical management of OI is considered, which includes both nonpharmacologic and pharmacologic approaches. Finally, we discuss the pr
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
Rossi A, Blok LS, Neuser S, Klöckner C, Platzer K, Faivre LO, Weigand H, Dentici ML, Tartaglia M, Niceta M, Alfieri P, Srivastava S, Coulter D, Smith L, Vinorum K, Cappuccio G, Brunetti-Pierri N, Torun D, Arslan M, Lauridsen MF, Murch O, Irving R, Lynch SA, Mehta SG, Carmichael J, Zonneveld-Huijssoon E, de Vries B, Kleefstra T, Johannesen KM, Westphall IT, Hughes SS, Smithson S, Evans J, Dudding-Byth T, Simon M, van Binsbergen E, Herkert JC, Beunders G, Oppermann H, Bakal M, Møller RS, Rubboli G, Bayat A. Rossi A, et al. Clin Genet. 2023 Aug;104(2):186-197. doi: 10.1111/cge.14353. Epub 2023 May 10. Clin Genet. 2023. PMID: 37165752
Autism, hearing and eye comorbidities, dysmorphisms were more common in individuals with truncating variants, whereas epilepsy was only associated with missense variants. In silico structural modeling predicted that all (likely) pathogenic variants destabilize the DNA-bind …
Autism, hearing and eye comorbidities, dysmorphisms were more common in individuals with truncating variants, whereas epilepsy was only asso …
Association of mast-cell-related conditions with hypermobile syndromes: a review of the literature.
Monaco A, Choi D, Uzun S, Maitland A, Riley B. Monaco A, et al. Immunol Res. 2022 Aug;70(4):419-431. doi: 10.1007/s12026-022-09280-1. Epub 2022 Apr 21. Immunol Res. 2022. PMID: 35449490 Free PMC article. Review.
The overlap of symptoms and multitude of EDS variations makes it difficult for patients to achieve a diagnosis early in the course of their disease. The most common form, hypermobile type EDS (hEDS) and its variant, hypermobile spectrum disorder (HSD), are correlated with …
The overlap of symptoms and multitude of EDS variations makes it difficult for patients to achieve a diagnosis early in the course of …
Sensing hand position in Ehlers-Danlos syndrome.
Clayton HA, 't Hart BM, Henriques DYP. Clayton HA, et al. Somatosens Mot Res. 2021 Dec;38(4):303-314. doi: 10.1080/08990220.2021.1973403. Epub 2021 Sep 9. Somatosens Mot Res. 2021. PMID: 34503384
However, EDS patients' estimates were less precise when based purely on proprioception and could be partially predicted by Beighton score. CONCLUSIONS: EDS patients are less precise at estimating their hand's location when only afferent information is available, but the pr …
However, EDS patients' estimates were less precise when based purely on proprioception and could be partially predicted by Beighton s …
Joint Hypermobility Syndrome: Recognizing a Commonly Overlooked Cause of Chronic Pain.
Kumar B, Lenert P. Kumar B, et al. Am J Med. 2017 Jun;130(6):640-647. doi: 10.1016/j.amjmed.2017.02.013. Epub 2017 Mar 10. Am J Med. 2017. PMID: 28286166 Review.
We review the literature regarding the pathophysiology, diagnosis, treatment options, and prognosis of joint hypermobility syndrome, and advocate for primary care physicians to consider it in the differential diagnosis of patients with chronic pain....
We review the literature regarding the pathophysiology, diagnosis, treatment options, and prognosis of joint hypermobility syndrome, …
176 results