Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1961 1
1963 1
1968 1
1970 1
1971 1
1972 1
1975 5
1976 2
1977 1
1978 4
1979 1
1980 3
1981 5
1982 3
1983 10
1984 8
1985 14
1986 9
1987 12
1988 8
1989 9
1990 20
1991 9
1992 15
1993 16
1994 10
1995 11
1996 14
1997 18
1998 16
1999 13
2000 21
2001 19
2002 19
2003 16
2004 22
2005 15
2006 21
2007 20
2008 17
2009 22
2010 17
2011 29
2012 36
2013 23
2014 30
2015 26
2016 20
2017 29
2018 28
2019 32
2020 43
2021 34
2022 29
2023 31
2024 21

Text availability

Article attribute

Article type

Publication date

Search Results

787 results

Results by year

Filters applied: . Clear all
Page 1
Smith-Lemli-Opitz Syndrome.
Nowaczyk MJM, Wassif CA. Nowaczyk MJM, et al. 1998 Nov 13 [updated 2020 Jan 30]. 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. 1998 Nov 13 [updated 2020 Jan 30]. 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: 20301322 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple-anomaly / cognitive impairment syndrome caused by an abnormality in cholesterol metabolism resulting from deficiency of the enzyme 7-dehydrocholesterol (7-DHC) reductase. ...Surveillance: …
CLINICAL CHARACTERISTICS: Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple-anomaly / cognitive impairment syndrome caused b …
Smith-Lemli-Opitz Syndrome: Bosnian and Herzegovinian Experience.
Begic N, Begic Z, Begic E. Begic N, et al. Balkan J Med Genet. 2021 Jul 27;24(1):99-102. doi: 10.2478/bjmg-2021-0002. eCollection 2021 Jun. Balkan J Med Genet. 2021. PMID: 34447666 Free PMC article.
The aim of this paper is to present a patient with the Smith-Lemli-Opitz syndrome (SLOS), with an overview of the modality of diagnosis, and the treatment of the patient. ...The proband, aged 6 years, has global developmental retardation with missing contact gaze and lacki …
The aim of this paper is to present a patient with the Smith-Lemli-Opitz syndrome (SLOS), with an overview of the modality of diagnos …
Genomics of Cardiovascular Measures of Autonomic Tone.
Sigurdsson MI, Waldron NH, Bortsov AV, Smith SB, Maixner W. Sigurdsson MI, et al. J Cardiovasc Pharmacol. 2018 Mar;71(3):180-191. doi: 10.1097/FJC.0000000000000559. J Cardiovasc Pharmacol. 2018. PMID: 29300220 Free PMC article. Review.
Here, we review the current state of knowledge of the genetic background of cardiovascular measurements of autonomic tone. For most parameters of autonomic tone, a large portion of variability is explained by genetic heritability. Many of the static parameters of au …
Here, we review the current state of knowledge of the genetic background of cardiovascular measurements of autonomic tone. For most p …
Squalene Synthase Deficiency.
Coman D, Vissers L, Waterham H, Christodoulou J, Wevers RA, Pitt J. Coman D, et al. 2020 Feb 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. 2020 Feb 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: 32027475 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Squalene synthase deficiency (SQSD) is a rare inborn error of cholesterol biosynthesis with multisystem clinical manifestations similar to Smith-Lemli-Optiz syndrome. Key clinical features include facial dysmorphism, a generalized seizure disorder …
CLINICAL CHARACTERISTICS: Squalene synthase deficiency (SQSD) is a rare inborn error of cholesterol biosynthesis with multisystem clinical m …
Brief Resolved Unexplained Events (Formerly Apparent Life-Threatening Events) and Evaluation of Lower-Risk Infants.
Tieder JS, Bonkowsky JL, Etzel RA, Franklin WH, Gremse DA, Herman B, Katz ES, Krilov LR, Merritt JL 2nd, Norlin C, Percelay J, Sapién RE, Shiffman RN, Smith MB; SUBCOMMITTEE ON APPARENT LIFE THREATENING EVENTS. Tieder JS, et al. Pediatrics. 2016 May;137(5):e20160590. doi: 10.1542/peds.2016-0590. Epub 2016 Apr 25. Pediatrics. 2016. PMID: 27244835
The term BRUE is defined as an event occurring in an infant younger than 1 year when the observer reports a sudden, brief, and now resolved episode of 1 of the following: (1) cyanosis or pallor; (2) absent, decreased, or irregular breathing; (3) marked change in tone (hype …
The term BRUE is defined as an event occurring in an infant younger than 1 year when the observer reports a sudden, brief, and now resolved …
Dual-task effects between tone counting and mathematical calculations.
Blakely MJ, Smith SL, Russell PN, Helton WS. Blakely MJ, et al. Appl Ergon. 2023 Sep;111:104052. doi: 10.1016/j.apergo.2023.104052. Epub 2023 May 20. Appl Ergon. 2023. PMID: 37216771
We also compared these results to previous studies employing the tone counting tasks with physically demanding tasks (climbing, kayaking and running). The interference between tone counting and mathematical calculations was worse than the interference between ton
We also compared these results to previous studies employing the tone counting tasks with physically demanding tasks (climbing, kayak …
Unilateral Vocal Fold Immobility in Children.
Graham ME, Smith ME. Graham ME, et al. Otolaryngol Clin North Am. 2019 Aug;52(4):681-692. doi: 10.1016/j.otc.2019.03.012. Epub 2019 May 6. Otolaryngol Clin North Am. 2019. PMID: 31072641 Review.
Laryngeal reinnervation is becoming more common, potentially offering permanent improvement in vocal and swallowing function through increasing bulk and tone to the paralyzed vocal fold....
Laryngeal reinnervation is becoming more common, potentially offering permanent improvement in vocal and swallowing function through increas …
HO in pregnancy.
Bainbridge SA, Smith GN. Bainbridge SA, et al. Free Radic Biol Med. 2005 Apr 15;38(8):979-88. doi: 10.1016/j.freeradbiomed.2004.11.002. Free Radic Biol Med. 2005. PMID: 15780756 Review.
The enzyme heme oxygenase (HO) has been implicated in several physiological functions throughout the body including control of vascular tone and regulation of the inflammatory and apoptotic cascades as well as contributing to the antioxidant capabilities in several organ s …
The enzyme heme oxygenase (HO) has been implicated in several physiological functions throughout the body including control of vascular t
Cyclooxygenases, peroxide tone and the allure of fish oil.
Smith WL. Smith WL. Curr Opin Cell Biol. 2005 Apr;17(2):174-82. doi: 10.1016/j.ceb.2005.02.005. Curr Opin Cell Biol. 2005. PMID: 15780594 Review.
In addition, cells lacking endogenous alkyl-peroxide-generating systems and thus having a low 'peroxide tone' cannot oxygenate EPA via cyclooxygenase-1. Platelets, however, which are equipped with a lipoxygenase that can produce an abundance of hydroperoxide from AA, can f …
In addition, cells lacking endogenous alkyl-peroxide-generating systems and thus having a low 'peroxide tone' cannot oxygenate EPA vi …
DFNA10/EYA4--the clinical picture.
De Leenheer EM, Huygen PL, Wayne S, Verstreken M, Declau F, Van Camp G, Van de Heyning PH, Smith RJ, Cremers CW. De Leenheer EM, et al. Adv Otorhinolaryngol. 2002;61:73-8. doi: 10.1159/000066807. Adv Otorhinolaryngol. 2002. PMID: 12408066 No abstract available.
787 results