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Items: 1 to 20 of 218

1.

Renal amyloidosis with a frame shift mutation in fibrinogen aalpha-chain gene producing a novel amyloid protein.

Hamidi Asl L, Liepnieks JJ, Uemichi T, Rebibou JM, Justrabo E, Droz D, Mousson C, Chalopin JM, Benson MD, Delpech M, Grateau G.

Blood. 1997 Dec 15;90(12):4799-805.

2.

A frame shift mutation in the fibrinogen A alpha chain gene in a kindred with renal amyloidosis.

Uemichi T, Liepnieks JJ, Yamada T, Gertz MA, Bang N, Benson MD.

Blood. 1996 May 15;87(10):4197-203.

3.

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.

4.

A new human hereditary amyloidosis: the result of a stop-codon mutation in the apolipoprotein AII gene.

Benson MD, Liepnieks JJ, Yazaki M, Yamashita T, Hamidi Asl K, Guenther B, Kluve-Beckerman B.

Genomics. 2001 Mar 15;72(3):272-7.

PMID:
11401442
5.

Hereditary renal amyloidosis with a novel variant fibrinogen.

Uemichi T, Liepnieks JJ, Benson MD.

J Clin Invest. 1994 Feb;93(2):731-6.

6.

Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain.

Benson MD, Liepnieks J, Uemichi T, Wheeler G, Correa R.

Nat Genet. 1993 Mar;3(3):252-5.

PMID:
8097946
7.

Fibrinogen A alpha chain mutation (Arg554 Leu) associated with hereditary renal amyloidosis in a French family.

Hamidi Asl L, Fournier V, Billerey C, Justrabo E, Chevet D, Droz D, Pécheux C, Delpech M, Grateau G.

Amyloid. 1998 Dec;5(4):279-84.

PMID:
10036586
8.

Fibrinogen A alpha chain Leu 554: an African-American kindred with late onset renal amyloidosis.

Uemichi T, Liepnieks JJ, Gertz MA, Benson MD.

Amyloid. 1998 Sep;5(3):188-92.

PMID:
9818055
9.

[A preemptive combined liver-kidney transplantation in Aalpha fibrinogen chain renal amyloidosis].

Delabre JP, Pageaux GP, Le Quellec A, Raynaud P, Grateau G, Mourad G.

Nephrol Ther. 2009 Apr;5(2):139-43. doi: 10.1016/j.nephro.2008.08.015. Epub 2008 Nov 13. Review. French.

PMID:
19013120
10.

Hereditary amyloidosis in early childhood associated with a novel insertion-deletion (indel) in the fibrinogen Aalpha chain gene.

Kang HG, Bybee A, Ha IS, Park MS, Gilbertson JA, Cheong HI, Choi Y, Hawkins PN.

Kidney Int. 2005 Nov;68(5):1994-8.

11.

A frameshift mutation in the human fibrinogen Aalpha-chain gene (Aalpha(499)Ala frameshift stop) leading to dysfibrinogen San Giovanni Rotondo.

Margaglione M, Vecchione G, Santacroce R, D'Angelo F, Casetta B, Papa ML, Grandone E, Di Minno G.

Thromb Haemost. 2001 Dec;86(6):1483-8.

PMID:
11776317
12.

Familial mutations in fibrinogen Aα (FGA) chain identified in renal amyloidosis increase in vitro amyloidogenicity of FGA fragment.

Sivalingam V, Patel BK.

Biochimie. 2016 Aug;127:44-9. doi: 10.1016/j.biochi.2016.04.020. Epub 2016 Apr 25.

PMID:
27126074
13.

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.

14.

Germ line origin and somatic mutations determine the target tissues in systemic AL-amyloidosis.

Enqvist S, Sletten K, Stevens FJ, Hellman U, Westermark P.

PLoS One. 2007 Oct 3;2(10):e981.

15.

Hereditary amyloidosis caused by R554L fibrinogen Aα-chain mutation in a Spanish family and review of the literature.

Haidinger M, Werzowa J, Kain R, Antlanger M, Hecking M, Pfaffenberger S, Mascherbauer J, Gremmel T, Gilbertson JA, Rowczenio D, Weichhart T, Kopecky C, Hörl WH, Hawkins PN, Säemann MD.

Amyloid. 2013 Jun;20(2):72-9. doi: 10.3109/13506129.2013.781998. Epub 2013 Apr 3.

PMID:
23551149
18.

Proteins of the systemic amyloidoses.

Cohen AS.

Curr Opin Rheumatol. 1994 Jan;6(1):55-67. Review.

PMID:
8031680
19.

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. Epub 2008 May 24.

PMID:
18500534
20.

Renal transplantation for apolipoprotein AII amyloidosis.

Magy N, Liepnieks JJ, Yazaki M, Kluve-Beckerman B, Benson MD.

Amyloid. 2003 Dec;10(4):224-8.

PMID:
14986481

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