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

Year Number of Results
1963 1
1967 1
1972 1
1975 1
1976 2
1977 1
1980 1
1981 1
1983 2
1984 2
1985 1
1986 3
1987 3
1989 2
1990 3
1991 2
1993 2
1994 1
1995 4
1997 2
1998 2
2000 1
2001 2
2002 1
2003 5
2004 6
2005 4
2006 9
2007 10
2008 12
2009 8
2010 6
2011 9
2012 16
2013 17
2014 10
2015 13
2016 19
2017 17
2018 19
2019 29
2020 17
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236 results
Results by year
Filters applied: . Clear all The following term was not found in PubMed: Droftina
Page 1
CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations.
Cullot G, Boutin J, Toutain J, Prat F, Pennamen P, Rooryck C, Teichmann M, Rousseau E, Lamrissi-Garcia I, Guyonnet-Duperat V, Bibeyran A, Lalanne M, Prouzet-Mauléon V, Turcq B, Ged C, Blouin JM, Richard E, Dabernat S, Moreau-Gaudry F, Bedel A. Cullot G, et al. Nat Commun. 2019 Mar 8;10(1):1136. doi: 10.1038/s41467-019-09006-2. Nat Commun. 2019. PMID: 30850590 Free PMC article.
Here we use Cas9 nuclease-induced double-strand break DNA (DSB) at the UROS locus to model and correct congenital erythropoietic porphyria. ...
Here we use Cas9 nuclease-induced double-strand break DNA (DSB) at the UROS locus to model and correct congenital erythropoietic porp …
Congenital erythropoietic porphyria: Recent advances.
Erwin AL, Desnick RJ. Erwin AL, et al. Mol Genet Metab. 2019 Nov;128(3):288-297. doi: 10.1016/j.ymgme.2018.12.008. Epub 2018 Dec 27. Mol Genet Metab. 2019. PMID: 30685241 Review.
CEP is caused by mutations in the uroporphyrinogen synthase (UROS) gene. In three reported cases, CEP has been associated with a specific X-linked GATA1 mutation. ...The clinical spectrum of CEP depends on the level of residual UROS activity, which is determined by …
CEP is caused by mutations in the uroporphyrinogen synthase (UROS) gene. In three reported cases, CEP has been associated with a spec …
Ellagic acid a multi-target bioactive compound for drug discovery in CNS? A narrative review.
Alfei S, Turrini F, Catena S, Zunin P, Grilli M, Pittaluga AM, Boggia R. Alfei S, et al. Eur J Med Chem. 2019 Dec 1;183:111724. doi: 10.1016/j.ejmech.2019.111724. Epub 2019 Sep 20. Eur J Med Chem. 2019. PMID: 31563012 Review.
At the same, EA metabolism to urolithins (UROs), whose concentration and activity is inter-individual and intra-individual dependent, is still under study and not completely elucidate. ...
At the same, EA metabolism to urolithins (UROs), whose concentration and activity is inter-individual and intra-individual dependent, …
Congenital Erythropoietic Porphyria.
Erwin A, Balwani M, Desnick RJ; Porphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical Research Network. Erwin A, et al. 2013 Sep 12 [updated 2016 Apr 7]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. GeneReviews®. 1993–2020. PMID: 24027798 Free Books & Documents. Review.
The diagnosis is confirmed most commonly by identification of biallelic UROS pathogenic variants or on rare occasion by the identification of a hemizygous pathogenic variant in the X-linked gene GATA1. ...GENETIC COUNSELING: CEP caused by biallelic UROS pathogenic v …
The diagnosis is confirmed most commonly by identification of biallelic UROS pathogenic variants or on rare occasion by the identific …
Changing epidemiology of the respiratory bacteriology of patients with cystic fibrosis-data from the European cystic fibrosis society patient registry.
Hatziagorou E, Orenti A, Drevinek P, Kashirskaya N, Mei-Zahav M, De Boeck K; ECFSPR. Electronic address: ECFS-Patient.Registry@uz.kuleuven.ac.be; ECFSPR. Hatziagorou E, et al. J Cyst Fibros. 2019 Sep 3:S1569-1993(19)30838-0. doi: 10.1016/j.jcf.2019.08.006. Online ahead of print. J Cyst Fibros. 2019. PMID: 31492646
Congenital erythropoietic porphyria with erythrodontia: A case report.
Ciftci V, Kılavuz S, Bulut FD, Mungan HN, Bisgin A, Dogan MC. Ciftci V, et al. Int J Paediatr Dent. 2019 Jul;29(4):542-548. doi: 10.1111/ipd.12473. Epub 2019 Feb 27. Int J Paediatr Dent. 2019. PMID: 30706587
Next-generation sequencing multigene panel testing for porphyria demonstrated a homozygous c.10C>T (p.L4F) mutation in the UROS gene. ...
Next-generation sequencing multigene panel testing for porphyria demonstrated a homozygous c.10C>T (p.L4F) mutation in the UROS ge …
Genetic background influences hepcidin response to iron imbalance in a mouse model of hemolytic anemia (Congenital erythropoietic porphyria).
Lefebvre T, Millot S, Richard E, Blouin JM, Lalanne M, Lamrissi-Garcia I, Costet P, Lyoumi S, Gouya L, Puy H, Moreau-Gaudry F, de Verneuil H, Karim Z, Ged C. Lefebvre T, et al. Biochem Biophys Res Commun. 2019 Dec 3;520(2):297-303. doi: 10.1016/j.bbrc.2019.09.141. Epub 2019 Oct 7. Biochem Biophys Res Commun. 2019. PMID: 31601421
Clinical severity is heterogeneous among patients suffering from congenital erythropoietic porphyria (CEP) suggesting a modulation of the disease (UROS deficiency) by environmental factors and modifier genes. A KI model of CEP due to a missense mutation of UROS gene …
Clinical severity is heterogeneous among patients suffering from congenital erythropoietic porphyria (CEP) suggesting a modulation of the di …
HLA in North Colombia Chimila Amerindians.
Arnaiz-Villena A, Palacio-Grüber J, Juarez I, Hernández E, Muñiz E, Bayona B, Campos C, Nieto J, Martin-Villa M, Silvera C. Arnaiz-Villena A, et al. Hum Immunol. 2018 Apr;79(4):189-190. doi: 10.1016/j.humimm.2018.02.004. Epub 2018 Feb 14. Hum Immunol. 2018. PMID: 29454071
Recommendations of Active Surveillance for Intermediate-risk Prostate Cancer: Results from a National Survey of Radiation Oncologists and Urologists.
Kim SP, Shah ND, Meropol NJ, Tilburt JC, Nguyen PL, Yu JB, Abouassaly R, Kim A, Gross CP. Kim SP, et al. Eur Urol Oncol. 2019 Mar;2(2):189-195. doi: 10.1016/j.euo.2018.08.004. Epub 2018 Aug 31. Eur Urol Oncol. 2019. PMID: 31017095
Thus, we performed a national survey of radiation oncologists (ROs) and urologists (UROs) to elicit attitudes and AS recommendations for intermediate-risk PCa. ...RESULTS AND LIMITATIONS: Overall, the response rate was 37.3% (n=692) and was similar for ROs and UROs
Thus, we performed a national survey of radiation oncologists (ROs) and urologists (UROs) to elicit attitudes and AS recommendations …
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