domingo, 28 de octubre de 2018

Hereditary hemochromatosis AND (genetic OR genomic) AND review - PubMed - NCBI

Hereditary hemochromatosis AND (genetic OR genomic) AND review - PubMed - NCBI

Elderly parents with adult children

From PubMed

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Pathophysiology and classification of iron overload diseases; update 2018.
Brissot P, Troadec MB, Loréal O, Brissot E.
Transfus Clin Biol. 2018 Aug 15. pii: S1246-7820(18)30095-8. doi: 10.1016/j.tracli.2018.08.006. [Epub ahead of print] Review.

PMID:
 
30173950
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2.
The interactions between iron and copper in genetic iron overload syndromes and primary copper toxicoses in Japan.
Tatsumi Y, Kato A, Kato K, Hayashi H.
Hepatol Res. 2018 Aug;48(9):679-691. doi: 10.1111/hepr.13200. Epub 2018 Jul 10. Review.

PMID:
 
29882374
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3.
Iron and a Man's Reproductive Health: the Good, the Bad, and the Ugly.
Gabrielsen JS, Lamb DJ, Lipshultz LI.
Curr Urol Rep. 2018 Jun 1;19(8):60. doi: 10.1007/s11934-018-0808-x. Review.

PMID:
 
29858708
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4.
Phenotypic analysis of hemochromatosis subtypes reveals variations in severity of iron overload and clinical disease.
Sandhu K, Flintoff K, Chatfield MD, Dixon JL, Ramm LE, Ramm GA, Powell LW, Subramaniam VN, Wallace DF.
Blood. 2018 Jul 5;132(1):101-110. doi: 10.1182/blood-2018-02-830562. Epub 2018 May 9.

PMID:
 
29743178
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5.
Haemochromatosis: a clinical update for the practising physician.
Radford-Smith DE, Powell EE, Powell LW.
Intern Med J. 2018 May;48(5):509-516. doi: 10.1111/imj.13784. Review.

PMID:
 
29722188
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6.
Whole-exome sequencing identifies unique mutations and copy number losses in calcifying fibrous tumor of the pleura: report of 3 cases and review of the literature.
Mehrad M, LaFramboise WA, Lyons MA, Trejo Bittar HE, Yousem SA.
Hum Pathol. 2018 Aug;78:36-43. doi: 10.1016/j.humpath.2018.04.005. Epub 2018 Apr 22.

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29689243
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7.
Haemochromatosis: Pathophysiology and the red blood cell1.
Richardson KJ, McNamee AP, Simmonds MJ.
Clin Hemorheol Microcirc. 2018;69(1-2):295-304. doi: 10.3233/CH-189128.

PMID:
 
29660923
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8.
Regression of human cirrhosis: an update, 18 years after the pioneering article by Wanless et al.
Hytiroglou P, Theise ND.
Virchows Arch. 2018 Jul;473(1):15-22. doi: 10.1007/s00428-018-2340-2. Epub 2018 Mar 27. Review.

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29589101
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9.
Primary Hemochromatosis Presenting as Type 2 Diabetes Mellitus: A Case Report with Review of Literature.
Raju K, Venkataramappa SM.
Int J Appl Basic Med Res. 2018 Jan-Mar;8(1):57-60. doi: 10.4103/ijabmr.IJABMR_402_16.

PMID:
 
29552540
 
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10.
Liver Iron Quantification with MR Imaging: A Primer for Radiologists.
Labranche R, Gilbert G, Cerny M, Vu KN, Soulières D, Olivié D, Billiard JS, Yokoo T, Tang A.
Radiographics. 2018 Mar-Apr;38(2):392-412. doi: 10.1148/rg.2018170079. Review.

PMID:
 
29528818
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11.
Genetic Infiltrative Cardiomyopathies.
Sweet ME, Mestroni L, Taylor MRG.
Heart Fail Clin. 2018 Apr;14(2):215-224. doi: 10.1016/j.hfc.2017.12.003. Review.

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29525649
 
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12.
TFR2-Related Hereditary Hemochromatosis.
De Gobbi M, Roetto A.
In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2005 Aug 29 [updated 2018 Feb 15].

PMID:
 
20301523
 
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13.
Identification of Genes for Hereditary Hemochromatosis.
Gerhard GS, Paynton BV, DiStefano JK.
Methods Mol Biol. 2018;1706:353-365. doi: 10.1007/978-1-4939-7471-9_19.

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29423808
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14.
Disorders of metal metabolism.
Ferreira CR, Gahl WA.
Transl Sci Rare Dis. 2017 Dec 18;2(3-4):101-139. doi: 10.3233/TRD-170015. Review.

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29354481
 
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15.
Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes.
Olsson KS, Wålinder O, Jansson U, Wilbe M, Bondeson ML, Stattin EL, Raha-Chowdhury R, Williams R.
Hereditas. 2017 Dec 19;154:16. doi: 10.1186/s41065-017-0052-2. eCollection 2017.

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29270100
 
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16.
The interaction of iron and the genome: For better and for worse.
Troadec MB, Loréal O, Brissot P.
Mutat Res. 2017 Oct;774:25-32. doi: 10.1016/j.mrrev.2017.09.002. Epub 2017 Sep 14. Review.

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29173496
 
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17.
Genetic hemochromatosis: Pathophysiology, diagnostic and therapeutic management.
Brissot P, Cavey T, Ropert M, Guggenbuhl P, Loréal O.
Presse Med. 2017 Dec;46(12 Pt 2):e288-e295. doi: 10.1016/j.lpm.2017.05.037. Epub 2017 Nov 20. Review.

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29158016
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18.
Iatrogenic iron overload and its potential consequences in patients on hemodialysis.
Rostoker G, Vaziri ND.
Presse Med. 2017 Dec;46(12 Pt 2):e312-e328. doi: 10.1016/j.lpm.2017.10.014. Epub 2017 Nov 16. Review.

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29153377
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19.
The mechanisms of systemic iron homeostasis and etiology, diagnosis, and treatment of hereditary hemochromatosis.
Kawabata H.
Int J Hematol. 2018 Jan;107(1):31-43. doi: 10.1007/s12185-017-2365-3. Epub 2017 Nov 13. Review.

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29134618
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20.
Iron metabolism and the role of the iron-regulating hormone hepcidin in health and disease.
Daher R, Manceau H, Karim Z.
Presse Med. 2017 Dec;46(12 Pt 2):e272-e278. doi: 10.1016/j.lpm.2017.10.006. Epub 2017 Nov 10. Review.

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