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

Year Number of Results
1950 1
1978 1
1981 3
1982 1
1986 1
1987 2
1988 4
1989 6
1990 4
1991 3
1992 3
1993 5
1995 2
1996 3
1997 1
1998 1
1999 4
2000 3
2001 6
2002 4
2003 5
2004 3
2005 4
2006 3
2007 4
2008 1
2009 3
2010 8
2011 5
2012 6
2013 6
2014 6
2015 5
2016 8
2017 9
2018 9
2019 7
2020 5
2021 3
2022 10
2023 6
2024 1

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156 results

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Page 1
Thalassemia.
Bajwa H, Basit H. Bajwa H, et al. 2023 Aug 8. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2023 Aug 8. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 31424735 Free Books & Documents.
Four allele deletion is the most severe form in which no alpha globins are produced and the excess gamma chains (present during the fetal period) form tetramers. ...A heterozygous mutation (beta-plus thalassemia) results in beta-thalassemia minor in which beta chain …
Four allele deletion is the most severe form in which no alpha globins are produced and the excess gamma chains (present during the f …
Roles of excess minority carrier recombination and chemisorbed O(2) species at SiO(2)/Si interfaces in Si dry oxidation: Comparison between p-Si(001) and n-Si(001) surfaces.
Tsuda Y, Yoshigoe A, Ogawa S, Sakamoto T, Yamamoto Y, Yamamoto Y, Takakuwa Y. Tsuda Y, et al. J Chem Phys. 2022 Dec 21;157(23):234705. doi: 10.1063/5.0109558. J Chem Phys. 2022. PMID: 36550047
This study provides experimental evidence for the following: (1) Excess minority carrier recombination at SiO(2)/Si interfaces is associated with O(2) dissociative adsorption; (2) the x-ray induced enhancement of SiO(2) growth is not caused by the band flatte …
This study provides experimental evidence for the following: (1) Excess minority carrier recombination at SiO(2)/Si int …
Berardinelli-Seip Congenital Lipodystrophy.
Van Maldergem L. Van Maldergem L. 2003 Sep 8 [updated 2016 Dec 8]. 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. 2003 Sep 8 [updated 2016 Dec 8]. 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: 20301391 Free Books & Documents. Review.
DIAGNOSIS/TESTING: The diagnosis of BSCL is established in a proband with three major criteria or two major criteria plus two or more minor criteria and/or by the identification of biallelic pathogenic variants in AGPAT2 or BSCL2. ...At conception, each sib of an affected …
DIAGNOSIS/TESTING: The diagnosis of BSCL is established in a proband with three major criteria or two major criteria plus two or more min …
Minority Carrier Blocking to Enhance the Thermoelectric Performance of Solution-Processed Bi(x)Sb(2-x)Te(3) Nanocomposites via a Liquid-Phase Sintering Process.
Zhang C, Ng H, Li Z, Khor KA, Xiong Q. Zhang C, et al. ACS Appl Mater Interfaces. 2017 Apr 12;9(14):12501-12510. doi: 10.1021/acsami.7b01473. Epub 2017 Mar 30. ACS Appl Mater Interfaces. 2017. PMID: 28318220
Rev. B 2016, 93, 165209). Here, to experimentally realize the minority carrier blocking, a liquid-phase sintering process enabled by excess Te is applied to the solution-processed Bi(x)Sb(2-x)Te(3) nanocomposites to introduce interfacial energy barriers. The …
Rev. B 2016, 93, 165209). Here, to experimentally realize the minority carrier blocking, a liquid-phase sintering process enab …
Alcohol, smoking and benign hepato-biliary disease.
Shabanzadeh DM, Novovic S. Shabanzadeh DM, et al. Best Pract Res Clin Gastroenterol. 2017 Oct;31(5):519-527. doi: 10.1016/j.bpg.2017.09.005. Epub 2017 Sep 7. Best Pract Res Clin Gastroenterol. 2017. PMID: 29195671 Review.
The impact of smoking on gallstone formation seems minor. Both alcohol intake and smoking do not alter the clinical course of gallstone disease carriers. ...Studies about the impact of alcohol and smoking on the post-cholecystectomy state are few and future s …
The impact of smoking on gallstone formation seems minor. Both alcohol intake and smoking do not alter the clinical course of gallsto …
Clinical features and magnesium levels: Novel insights in 15q11.2 BP1-BP2 copy number variants.
Meossi C, Carrer A, Ciaccio C, Estienne M, Silipigni R, Sciacca FL, Pantaleoni C, D'Arrigo S, Milani D. Meossi C, et al. J Intellect Disabil Res. 2023 Jul;67(7):679-689. doi: 10.1111/jir.13038. Epub 2023 May 2. J Intellect Disabil Res. 2023. PMID: 37129092
Dysmorphic traits and malformations were detected only in a minority of the participants, and no clear association with growth anomalies was found. ...However, some issues may question the real impact of 15q11.2 CNV on the phenotype in the carriers: DNA sequencing c …
Dysmorphic traits and malformations were detected only in a minority of the participants, and no clear association with growth anomal …
Cytochrome P450 Oxidoreductase Deficiency.
Idkowiak J, Cragun D, Hopkin RJ, Arlt W. Idkowiak J, et al. 2005 Sep 8 [updated 2017 Aug 3]. 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. 2005 Sep 8 [updated 2017 Aug 3]. 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: 20301592 Free Books & Documents. Review.
Cortisol deficiency is usually partial, with some baseline cortisol production but failure to mount an adequate cortisol response in stress. Mild mineralocorticoid excess can be present and causes arterial hypertension, usually presenting in young adulthood. ...At concepti …
Cortisol deficiency is usually partial, with some baseline cortisol production but failure to mount an adequate cortisol response in stress. …
Epithelial Endoplasmic Reticulum Stress Enhances the Risk of Muc5b-associated Lung Fibrosis.
Dobrinskikh E, Hennessy CE, Kurche JS, Kim E, Estrella AM, Cardwell J, Yang IV, Schwartz DA. Dobrinskikh E, et al. Am J Respir Cell Mol Biol. 2023 Jan;68(1):62-74. doi: 10.1165/rcmb.2022-0252OC. Am J Respir Cell Mol Biol. 2023. PMID: 36108173 Free PMC article.
The gain-of-function minor allele of the MUC5B (mucin 5B, oligomeric mucus/gel-forming) promoter (rs35705950) is the strongest risk factor for idiopathic pulmonary fibrosis (IPF), a devastating fibrotic lung disease that leads to progressive respiratory failure in adults. …
The gain-of-function minor allele of the MUC5B (mucin 5B, oligomeric mucus/gel-forming) promoter (rs35705950) is the strongest risk f …
ABRAXAS1 orchestrates BRCA1 activities to counter genome destabilizing repair pathways-lessons from breast cancer patients.
Sachsenweger J, Jansche R, Merk T, Heitmeir B, Deniz M, Faust U, Roggia C, Tzschach A, Schroeder C, Riess A, Pospiech H, Peltoketo H, Pylkäs K, Winqvist R, Wiesmüller L. Sachsenweger J, et al. Cell Death Dis. 2023 May 17;14(5):328. doi: 10.1038/s41419-023-05845-6. Cell Death Dis. 2023. PMID: 37198153 Free PMC article.
To unravel the molecular mechanisms triggering carcinogenesis in these carriers of heterozygous mutations, we examined DSBR functions in patient-derived lymphoblastoid cells (LCLs) and in genetically manipulated mammary epithelial cells. ...Further truncation, additionally …
To unravel the molecular mechanisms triggering carcinogenesis in these carriers of heterozygous mutations, we examined DSBR functions …
Pathophysiological consequences and benefits of HFE mutations: 20 years of research.
Hollerer I, Bachmann A, Muckenthaler MU. Hollerer I, et al. Haematologica. 2017 May;102(5):809-817. doi: 10.3324/haematol.2016.160432. Epub 2017 Mar 9. Haematologica. 2017. PMID: 28280078 Free PMC article. Review.
Mutations in the HFE (hemochromatosis) gene cause hereditary hemochromatosis, an iron overload disorder that is hallmarked by excessive accumulation of iron in parenchymal organs. The HFE mutation p.Cys282Tyr is pathologically most relevant and occurs in the Caucasian popu …
Mutations in the HFE (hemochromatosis) gene cause hereditary hemochromatosis, an iron overload disorder that is hallmarked by excessive …
156 results