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Items: 1 to 20 of 178

1.

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
2.

Hereditary renal amyloidosis with a novel variant fibrinogen.

Uemichi T, Liepnieks JJ, Benson MD.

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

3.

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
4.

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.

5.

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
6.

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
7.

The molecular basis of renal amyloidosis in Irish-American and Polish-Canadian kindreds.

Uemichi T, Liepnieks JJ, Alexander F, Benson MD.

QJM. 1996 Oct;89(10):745-50.

8.

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.

9.

Curative hepatorenal transplantation in systemic amyloidosis caused by the Glu526Val fibrinogen alpha-chain variant in an English family.

Gillmore JD, Booth DR, Rela M, Heaton ND, Rahman V, Stangou AJ, Pepys MB, Hawkins PN.

QJM. 2000 May;93(5):269-75.

10.

A transthyretin variant (alanine 49) associated with familial amyloidotic polyneuropathy in a French family.

Benson MD 2nd, Julien J, Liepnieks J, Zeldenrust S, Benson MD.

J Med Genet. 1993 Feb;30(2):117-9.

11.

Hereditary renal amyloidosis associated with variant lysozyme in a large English family.

Gillmore JD, Booth DR, Madhoo S, Pepys MB, Hawkins PN.

Nephrol Dial Transplant. 1999 Nov;14(11):2639-44.

12.

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
13.

A new mutant transthyretin (Arg 10) associated with familial amyloid polyneuropathy.

Uemichi T, Murrell JR, Zeldenrust S, Benson MD.

J Med Genet. 1992 Dec;29(12):888-91.

14.

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
15.

A new transthyretin variant (Ser 24) associated with familial amyloid polyneuropathy.

Uemichi T, Gertz MA, Benson MD.

J Med Genet. 1995 Apr;32(4):279-81.

16.

A novel variant of transthyretin, 59Thr-->Lys, associated with autosomal dominant cardiac amyloidosis in an Italian family.

Booth DR, Tan SY, Hawkins PN, Pepys MB, Frustaci A.

Circulation. 1995 Feb 15;91(4):962-7.

17.

Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis.

Soutar AK, Hawkins PN, Vigushin DM, Tennent GA, Booth SE, Hutton T, Nguyen O, Totty NF, Feest TG, Hsuan JJ, et al.

Proc Natl Acad Sci U S A. 1992 Aug 15;89(16):7389-93.

18.
19.

Identification of the antithrombin III Kyoto mutation by restriction fragment length polymorphism analysis.

Masuda H, Tsuji H, Nakagawa K, Nakahara Y, Kitamura H, Ogasahara Y, Nakagawa M.

Int J Hematol. 1995 Jun;61(4):197-204.

PMID:
8547608
20.

Mutation in gelsolin gene in Finnish hereditary amyloidosis.

Levy E, Haltia M, Fernandez-Madrid I, Koivunen O, Ghiso J, Prelli F, Frangione B.

J Exp Med. 1990 Dec 1;172(6):1865-7.

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