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

Year Number of Results
1973 1
1974 1
1975 2
1976 2
1977 1
1978 3
1980 1
1983 1
1985 1
1986 2
1987 1
1990 1
1991 5
1992 2
1993 4
1994 1
1995 4
1996 1
1997 2
1998 3
1999 6
2000 6
2001 4
2002 8
2003 3
2004 3
2005 3
2006 5
2007 3
2008 2
2009 2
2010 5
2011 5
2012 5
2013 5
2014 1
2015 6
2016 5
2017 5
2018 11
2019 7
2020 6
2021 5
2022 3
2023 2
2024 1

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144 results

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2 articles found by citation matching

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Page 1
Genetic basis of hypercholesterolemia in adults.
Saadatagah S, Jose M, Dikilitas O, Alhalabi L, Miller AA, Fan X, Olson JE, Kochan DC, Safarova M, Kullo IJ. Saadatagah S, et al. NPJ Genom Med. 2021 Apr 14;6(1):28. doi: 10.1038/s41525-021-00190-z. NPJ Genom Med. 2021. PMID: 33854068 Free PMC article.
Phenotypic and genetic FH showed poor overlap. Only 26% of those who met the clinical criteria of FH had an identifiable genetic etiology and of those with an identifiable genetic etiology only 12.9% met clinical criteria for FH. Genetic factors explai …
Phenotypic and genetic FH showed poor overlap. Only 26% of those who met the clinical criteria of FH had an identifiable genetic
Update of the molecular basis of familial hypercholesterolemia in The Netherlands.
Fouchier SW, Kastelein JJ, Defesche JC. Fouchier SW, et al. Hum Mutat. 2005 Dec;26(6):550-6. doi: 10.1002/humu.20256. Hum Mutat. 2005. PMID: 16250003
The inclusion of all 2,818 index cases into the national screening program for familial hypercholesterolemia (FH) resulted in the identification of 7,079 relatives who carried a mutation that causes ADH. ...The population of patients with ADH was divided into three gene
The inclusion of all 2,818 index cases into the national screening program for familial hypercholesterolemia (FH) resulted in the ide …
Author Correction: Genetic basis of hypercholesterolemia in adults.
Saadatagah S, Jose M, Dikilitas O, Alhalabi L, Miller AA, Fan X, Olson JE, Kochan DC, Safarova M, Kullo IJ. Saadatagah S, et al. NPJ Genom Med. 2021 Jun 29;6(1):56. doi: 10.1038/s41525-021-00222-8. NPJ Genom Med. 2021. PMID: 34188061 Free PMC article. No abstract available.
Glycogen Storage Disease Type III.
Schreuder AB, Rossi A, Grünert SC, Derks TGJ. Schreuder AB, et al. 2010 Mar 9 [updated 2022 Jan 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2010 Mar 9 [updated 2022 Jan 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301788 Free Books & Documents. Review.
Glucose management requires balancing undertreatment against the risks assocated with overtreatment (e.g., fetal hyperinsulinemic hypoglycemia). GENETIC COUNSELING: GSD III is inherited in an autosomal recessive manner. ...Once the AGL pathogenic variants have been identif …
Glucose management requires balancing undertreatment against the risks assocated with overtreatment (e.g., fetal hyperinsulinemic hypoglycem …
Lorlatinib in patients with ALK-positive non-small-cell lung cancer: results from a global phase 2 study.
Solomon BJ, Besse B, Bauer TM, Felip E, Soo RA, Camidge DR, Chiari R, Bearz A, Lin CC, Gadgeel SM, Riely GJ, Tan EH, Seto T, James LP, Clancy JS, Abbattista A, Martini JF, Chen J, Peltz G, Thurm H, Ou SI, Shaw AT. Solomon BJ, et al. Lancet Oncol. 2018 Dec;19(12):1654-1667. doi: 10.1016/S1470-2045(18)30649-1. Epub 2018 Nov 6. Lancet Oncol. 2018. PMID: 30413378 Clinical Trial.
Patients were enrolled into six different expansion cohorts (EXP1-6) on the basis of ALK and ROS1 status and previous therapy, and were given lorlatinib 100 mg orally once daily continuously in 21-day cycles. ...The most common treatment-related adverse events across all p …
Patients were enrolled into six different expansion cohorts (EXP1-6) on the basis of ALK and ROS1 status and previous therapy, and we …
CADASIL.
Hack RJ, Rutten J, Lesnik Oberstein SAJ. Hack RJ, et al. 2000 Mar 15 [updated 2019 Mar 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 Mar 15 [updated 2019 Mar 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301673 Free Books & Documents. Review.
DIAGNOSIS/TESTING: The diagnosis of CADASIL is established in a proband either by identification of a heterozygous pathogenic variant in NOTCH3 by molecular genetic testing or, if molecular genetic testing is not definitive, by detection of characteristic findings b …
DIAGNOSIS/TESTING: The diagnosis of CADASIL is established in a proband either by identification of a heterozygous pathogenic variant in NOT …
Genetic basis of index patients with familial hypercholesterolemia in Chinese population: mutation spectrum and genotype-phenotype correlation.
Sun D, Zhou BY, Li S, Sun NL, Hua Q, Wu SL, Cao YS, Guo YL, Wu NQ, Zhu CG, Gao Y, Cui CJ, Liu G, Li JJ. Sun D, et al. Lipids Health Dis. 2018 Nov 6;17(1):252. doi: 10.1186/s12944-018-0900-8. Lipids Health Dis. 2018. PMID: 30400955 Free PMC article.
BACKGROUND: Although there have been many reports in the genetics of familial hypercholesterolemia (FH) worldwide, studies in regard of Chinese population are lacking. In this multi-center study, we aim to characterize the genetic spectrum of FH in Chinese po …
BACKGROUND: Although there have been many reports in the genetics of familial hypercholesterolemia (FH) worldwide, studies in …
Genetic basis and hematologic manifestations of sitosterolemia in a group of Turkish patients.
Kaya Z, Sal E, Yorulmaz A, Hsieh YP, Gülen H, Yıldırım AT, Niu DM, Tekin A. Kaya Z, et al. J Clin Lipidol. 2021 Sep-Oct;15(5):690-698. doi: 10.1016/j.jacl.2021.07.001. Epub 2021 Jul 10. J Clin Lipidol. 2021. PMID: 34304999
METHODS: Seven probands with unexplained hematologic abnormalities and their 13 relatives were enrolled. Sterol levels were measured by gas chromatography and genetic studies were performed using Sanger sequencing. Individuals were diagnosed with sitosterolemia if they wer …
METHODS: Seven probands with unexplained hematologic abnormalities and their 13 relatives were enrolled. Sterol levels were measured by gas …
Genetic variations in familial hypercholesterolemia and cascade screening in East Asians.
Chan ML, Cheung CL, Lee AC, Yeung CY, Siu CW, Leung JY, Pang HK, Tan KC. Chan ML, et al. Mol Genet Genomic Med. 2019 Feb;7(2):e00520. doi: 10.1002/mgg3.520. Epub 2018 Dec 27. Mol Genet Genomic Med. 2019. PMID: 30592178 Free PMC article.
Genetic testing for FH is not commonly used in Asian countries. We aimed to define the genetic spectrum of FH in Hong Kong and to test the feasibility of cascade genetic screening. ...CONCLUSION: Approximately two-third of the subjects in this clinically asce
Genetic testing for FH is not commonly used in Asian countries. We aimed to define the genetic spectrum of FH in Hong Kong and
Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina.
Bañares VG, Corral P, Medeiros AM, Araujo MB, Lozada A, Bustamante J, Cerretini R, López G, Bourbon M, Schreier LE. Bañares VG, et al. J Clin Lipidol. 2017 Mar-Apr;11(2):524-531. doi: 10.1016/j.jacl.2017.02.007. Epub 2017 Feb 28. J Clin Lipidol. 2017. PMID: 28502510
BACKGROUND: Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-density lipoprotein cholesterol and early cardiovascular disease. ...In addition, these data contribute to the understanding of the molecular basis of FH in Arg …
BACKGROUND: Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-density lipoprotein cholest …
144 results