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

Year Number of Results
1992 1
1993 45
1996 1
1998 7
1999 3
2000 23
2001 3
2002 5
2003 9
2004 4
2005 8
2006 11
2007 6
2008 8
2009 13
2010 10
2011 11
2012 15
2013 33
2014 51
2015 73
2016 113
2017 129
2018 149
2019 148
2020 89
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761 results
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1 article found by citation matching

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Page 1
Clinical management of herpes simplex virus infections: past, present, and future.
Whitley R, Baines J. Whitley R, et al. F1000Res. 2018 Oct 31;7:F1000 Faculty Rev-1726. doi: 10.12688/f1000research.16157.1. eCollection 2018. F1000Res. 2018. PMID: 30443341 Free PMC article. Review.
However, these viruses can also cause severe disease such as recurrent keratitis leading potentially to blindness, as well as encephalitis, and systemic disease in neonates and immunocompromised patients. ...Approaches using compounds that modulate the chromatin sta …
However, these viruses can also cause severe disease such as recurrent keratitis leading potentially to blindness, as well as encepha …
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, Herman GE, Hufnagel SB, Klein TE, Korf BR, McKelvey KD, Ormond KE, Richards CS, Vlangos CN, Watson M, Martin CL, Miller DT. Kalia SS, et al. Genet Med. 2017 Feb;19(2):249-255. doi: 10.1038/gim.2016.190. Epub 2016 Nov 17. Genet Med. 2017. PMID: 27854360
It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedures.To promote standardized reporting of actionable information from clinical genomic sequencing, in 2013, the American …
It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other …
Feasibility and utility of a panel testing for 114 cancer-associated genes in a clinical setting: A hospital-based study.
Sunami K, Ichikawa H, Kubo T, Kato M, Fujiwara Y, Shimomura A, Koyama T, Kakishima H, Kitami M, Matsushita H, Furukawa E, Narushima D, Nagai M, Taniguchi H, Motoi N, Sekine S, Maeshima A, Mori T, Watanabe R, Yoshida M, Yoshida A, Yoshida H, Satomi K, Sukeda A, Hashimoto T, Shimizu T, Iwasa S, Yonemori K, Kato K, Morizane C, Ogawa C, Tanabe N, Sugano K, Hiraoka N, Tamura K, Yoshida T, Fujiwara Y, Ochiai A, Yamamoto N, Kohno T. Sunami K, et al. Cancer Sci. 2019 Apr;110(4):1480-1490. doi: 10.1111/cas.13969. Epub 2019 Apr 2. Cancer Sci. 2019. PMID: 30742731 Free PMC article.
Next-generation sequencing (NGS) of tumor tissue (ie, clinical sequencing) can guide clinical management by providing information about actionable gene aberrations that have diagnostic and therapeutic significance. ...These results indicate the utility of tum …
Next-generation sequencing (NGS) of tumor tissue (ie, clinical sequencing) can guide clinical management by providing i …
Clinical utility of genomic sequencing.
Neu MB, Bowling KM, Cooper GM. Neu MB, et al. Curr Opin Pediatr. 2019 Dec;31(6):732-738. doi: 10.1097/MOP.0000000000000815. Curr Opin Pediatr. 2019. PMID: 31693580 Free PMC article. Review.
PURPOSE OF REVIEW: Identifying pathogenic variation underlying pediatric developmental disease is critical for medical management, therapeutic development, and family planning. ...SUMMARY: Genomic sequencing is a powerful and increasingly cost-effectiv …
PURPOSE OF REVIEW: Identifying pathogenic variation underlying pediatric developmental disease is critical for medical mana
Cancer Screening Recommendations and Clinical Management of Inherited Gastrointestinal Cancer Syndromes in Childhood.
Achatz MI, Porter CC, Brugières L, Druker H, Frebourg T, Foulkes WD, Kratz CP, Kuiper RP, Hansford JR, Hernandez HS, Nathanson KL, Kohlmann WK, Doros L, Onel K, Schneider KW, Scollon SR, Tabori U, Tomlinson GE, Evans DGR, Plon SE. Achatz MI, et al. Clin Cancer Res. 2017 Jul 1;23(13):e107-e114. doi: 10.1158/1078-0432.CCR-17-0790. Clin Cancer Res. 2017. PMID: 28674119 Free article. Review.
In October 2016, the American Association for Cancer Research organized the AACR Childhood Cancer Predisposition Workshop in which international experts in care of children with a hereditary risk of cancer met to define surveillance strategies and management of chil …
In October 2016, the American Association for Cancer Research organized the AACR Childhood Cancer Predisposition Workshop in which internati …
Diagnosis and management of Silver-Russell syndrome: first international consensus statement.
Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I. Wakeling EL, et al. Nat Rev Endocrinol. 2017 Feb;13(2):105-124. doi: 10.1038/nrendo.2016.138. Epub 2016 Sep 2. Nat Rev Endocrinol. 2017. PMID: 27585961
SRS is primarily a clinical diagnosis; however, molecular testing enables confirmation of the clinical diagnosis and defines the subtype. A 'normal' result from a molecular test does not exclude the diagnosis of SRS. The management of children w …
SRS is primarily a clinical diagnosis; however, molecular testing enables confirmation of the clinical diagnosis and de …
Genomic medicine for undiagnosed diseases.
Wise AL, Manolio TA, Mensah GA, Peterson JF, Roden DM, Tamburro C, Williams MS, Green ED. Wise AL, et al. Lancet. 2019 Aug 10;394(10197):533-540. doi: 10.1016/S0140-6736(19)31274-7. Epub 2019 Aug 5. Lancet. 2019. PMID: 31395441 Review.
One of the primary goals of genomic medicine is to improve diagnosis through identification of genomic conditions, which could improve clinical management, prevent complications, and promote health. ...We focus on the role of clinical genomic
One of the primary goals of genomic medicine is to improve diagnosis through identification of genomic conditions, which could …
Genomic testing in pediatric epilepsy.
Thodeson DM, Park JY. Thodeson DM, et al. Cold Spring Harb Mol Case Stud. 2019 Aug 1;5(4):a004135. doi: 10.1101/mcs.a004135. Print 2019 Aug. Cold Spring Harb Mol Case Stud. 2019. PMID: 31371349 Free PMC article. Review.
Genomic testing has become routine in the diagnosis and management of pediatric patients with epilepsy. In a single test, hundreds to thousands of genes are examined for DNA changes that may not only explain the etiology of the patient's
Genomic testing has become routine in the diagnosis and management of pediatric patients with epilepsy. In a sin
30-Year Review of Pediatric- and Adult-Onset CVID: Clinical Correlates and Prognostic Indicators.
Baloh C, Reddy A, Henson M, Prince K, Buckley R, Lugar P. Baloh C, et al. J Clin Immunol. 2019 Oct;39(7):678-687. doi: 10.1007/s10875-019-00674-9. Epub 2019 Aug 3. J Clin Immunol. 2019. PMID: 31377970
METHODS: Retrospective chart review of 198 subjects with CVID at a single institution, of whom 91 had disease onset at a pediatric age. Clinical and laboratory data were collected at diagnosis and in follow-up. Odds ratios and Fisher tests were utilize …
METHODS: Retrospective chart review of 198 subjects with CVID at a single institution, of whom 91 had disease onset at a pediatric
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.
Walpole S, Pritchard AL, Cebulla CM, Pilarski R, Stautberg M, Davidorf FH, de la Fouchardière A, Cabaret O, Golmard L, Stoppa-Lyonnet D, Garfield E, Njauw CN, Cheung M, Turunen JA, Repo P, Järvinen RS, van Doorn R, Jager MJ, Luyten GPM, Marinkovic M, Chau C, Potrony M, Höiom V, Helgadottir H, Pastorino L, Bruno W, Andreotti V, Dalmasso B, Ciccarese G, Queirolo P, Mastracci L, Wadt K, Kiilgaard JF, Speicher MR, van Poppelen N, Kilic E, Al-Jamal RT, Dianzani I, Betti M, Bergmann C, Santagata S, Dahiya S, Taibjee S, Burke J, Poplawski N, O'Shea SJ, Newton-Bishop J, Adlard J, Adams DJ, Lane AM, Kim I, Klebe S, Racher H, Harbour JW, Nickerson ML, Murali R, Palmer JM, Howlie M, Symmons J, Hamilton H, Warrier S, Glasson W, Johansson P, Robles-Espinoza CD, Ossio R, de Klein A, Puig S, Ghiorzo P, Nielsen M, Kivelä TT, Tsao H, Testa JR, Gerami P, Stern MH, Paillerets BB, Abdel-Rahman MH, Hayward NK. Walpole S, et al. J Natl Cancer Inst. 2018 Dec 1;110(12):1328-1341. doi: 10.1093/jnci/djy171. J Natl Cancer Inst. 2018. PMID: 30517737 Free PMC article. Review.
Improved understanding of the BAP1-TPDS is crucial for appropriate clinical management of BAP1 germline variant carriers and their families, including genetic counseling and surveillance for new tumors. ...It highlights the need for a curated registry of germline va …
Improved understanding of the BAP1-TPDS is crucial for appropriate clinical management of BAP1 germline variant carriers and t …
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