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Items: 1 to 20 of 147

1.

Hereditary apolipoprotein AI-associated amyloidosis in surgical pathology specimens: identification of three novel mutations in the APOA1 gene.

Eriksson M, Schönland S, Yumlu S, Hegenbart U, von Hutten H, Gioeva Z, Lohse P, Büttner J, Schmidt H, Röcken C.

J Mol Diagn. 2009 May;11(3):257-62. doi: 10.2353/jmoldx.2009.080161.

2.

Prevalence of germline mutations in the TTR gene in a consecutive series of surgical pathology specimens with ATTR amyloid.

Eriksson M, Büttner J, Todorov T, Yumlu S, Schönland S, Hegenbart U, Kristen AV, Dengler T, Lohse P, Helmke B, Schmidt H, Röcken C.

Am J Surg Pathol. 2009 Jan;33(1):58-65. doi: 10.1097/PAS.0b013e3181788566.

PMID:
18830126
3.

Renal apolipoprotein A-I amyloidosis: a rare and usually ignored cause of hereditary tubulointerstitial nephritis.

Gregorini G, Izzi C, Obici L, Tardanico R, Röcken C, Viola BF, Capistrano M, Donadei S, Biasi L, Scalvini T, Merlini G, Scolari F.

J Am Soc Nephrol. 2005 Dec;16(12):3680-6.

4.

Hereditary hepatic and systemic amyloidosis caused by a new deletion/insertion mutation in the apolipoprotein AI gene.

Booth DR, Tan SY, Booth SE, Tennent GA, Hutchinson WL, Hsuan JJ, Totty NF, Truong O, Soutar AK, Hawkins PN, Bruguera M, Caballería J, Solé M, Campistol JM, Pepys MB.

J Clin Invest. 1996 Jun 15;97(12):2714-21.

5.

Protein conformational perturbations in hereditary amyloidosis: Differential impact of single point mutations in ApoAI amyloidogenic variants.

Del Giudice R, Arciello A, Itri F, Merlino A, Monti M, Buonanno M, Penco A, Canetti D, Petruk G, Monti SM, Relini A, Pucci P, Piccoli R, Monti DM.

Biochim Biophys Acta. 2016 Feb;1860(2):434-44. doi: 10.1016/j.bbagen.2015.10.019.

PMID:
26515634
6.

Familial nephropathic systemic amyloidosis caused by apolipoprotein AI variant Arg26.

Vigushin DM, Gough J, Allan D, Alguacil A, Penner B, Pettigrew NM, Quinonez G, Bernstein K, Booth SE, Booth DR, et al.

Q J Med. 1994 Mar;87(3):149-54.

PMID:
8208902
7.

Prevalence and origin of amyloid in kidney biopsies.

von Hutten H, Mihatsch M, Lobeck H, Rudolph B, Eriksson M, Röcken C.

Am J Surg Pathol. 2009 Aug;33(8):1198-205. doi: 10.1097/PAS.0b013e3181abdfa7.

PMID:
19561448
8.

Hepatic familial amyloidosis caused by a new mutation in the apolipoprotein AI gene: clinical and pathological features.

Caballería J, Bruguera M, Solé M, Campistol JM, Rodés J.

Am J Gastroenterol. 2001 Jun;96(6):1872-6.

PMID:
11419842
9.

Clinical and pathologic characteristics of hereditary apolipoprotein A-I amyloidosis in Ireland.

Traynor CA, Tighe D, O'Brien FJ, Leavey SF, Dorman AM, Denton MD, Magee C, Conlon PJ.

Nephrology (Carlton). 2013 Aug;18(8):549-54. doi: 10.1111/nep.12108.

PMID:
23730806
10.

Renal apolipoprotein A-I amyloidosis associated with a novel mutant Leu64Pro.

Murphy CL, Wang S, Weaver K, Gertz MA, Weiss DT, Solomon A.

Am J Kidney Dis. 2004 Dec;44(6):1103-9.

PMID:
15558533
11.

Two different types of amyloid deposits--apolipoprotein A-IV and transthyretin--in a patient with systemic amyloidosis.

Bergström J, Murphy CL, Weiss DT, Solomon A, Sletten K, Hellman U, Westermark P.

Lab Invest. 2004 Aug;84(8):981-8.

12.

Hepatic amyloidosis resulting from deposition of the apolipoprotein A-I variant Leu75Pro.

Coriu D, Dispenzieri A, Stevens FJ, Murphy CL, Wang S, Weiss DT, Solomon A.

Amyloid. 2003 Dec;10(4):215-23.

PMID:
14986480
13.

Infertility and hypergonadotropic hypogonadism as first evidence of hereditary apolipoprotein A-I amyloidosis.

Scalvini T, Martini PR, Obici L, Tardanico R, Biasi L, Gregorini G, Scolari F, Merlini G.

J Urol. 2007 Jul;178(1):344-8.

PMID:
17507040
14.

A novel apolipoprotein A-1 variant, Arg173Pro, associated with cardiac and cutaneous amyloidosis.

Hamidi Asl K, Liepnieks JJ, Nakamura M, Parker F, Benson MD.

Biochem Biophys Res Commun. 1999 Apr 13;257(2):584-8.

PMID:
10198255
15.

Successful hepatorenal transplantation in hereditary amyloidosis caused by a frame-shift mutation in fibrinogen Aalpha-chain gene.

Mousson C, Heyd B, Justrabo E, Rebibou JM, Tanter Y, Miguet JP, Rifle G.

Am J Transplant. 2006 Mar;6(3):632-5.

16.

Ostertag revisited: the inherited systemic amyloidoses without neuropathy.

Benson MD.

Amyloid. 2005 Jun;12(2):75-87. Review.

PMID:
16011983
17.

Laryngeal presentation of systemic apolipoprotein A-I-derived amyloidosis.

Hazenberg AJ, Dikkers FG, Hawkins PN, Bijzet J, Rowczenio D, Gilbertson J, Posthumus MD, Leijsma MK, Hazenberg BP.

Laryngoscope. 2009 Mar;119(3):608-15. doi: 10.1002/lary.20106.

PMID:
19235761
18.

Tubulointerstitial nephritis is a dominant feature of hereditary apolipoprotein A-I amyloidosis.

Gregorini G, Izzi C, Ravani P, Obici L, Dallera N, Del Barba A, Negrinelli A, Tardanico R, Nardi M, Biasi L, Scalvini T, Merlini G, Scolari F.

Kidney Int. 2015 Jun;87(6):1223-9. doi: 10.1038/ki.2014.389.

PMID:
25565309
19.

Apolipoprotein AI and transthyretin as components of amyloid fibrils in a kindred with apoAI Leu178His amyloidosis.

de Sousa MM, Vital C, Ostler D, Fernandes R, Pouget-Abadie J, Carles D, Saraiva MJ.

Am J Pathol. 2000 Jun;156(6):1911-7.

20.

Three German fibrinogen Aalpha-chain amyloidosis patients with the p.Glu526Val mutation.

Eriksson M, Schönland S, Bergner R, Hegenbart U, Lohse P, Schmidt H, Röcken C.

Virchows Arch. 2008 Jul;453(1):25-31. doi: 10.1007/s00428-008-0619-4.

PMID:
18500534
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