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Items: 1 to 20 of 94

1.

Amyloidosis due to a mutation of the gelsolin gene in an American family with lattice corneal dystrophy type II.

Gorevic PD, Munoz PC, Gorgone G, Purcell JJ Jr, Rodrigues M, Ghiso J, Levy E, Haltia M, Frangione B.

N Engl J Med. 1991 Dec 19;325(25):1780-5. No abstract available.

2.

Exclusion of the gelsolin gene on 9q32-34 as the cause of familial lattice corneal dystrophy type I.

Wiens A, Marles S, Safneck J, Kwiatkowski DJ, Maury CP, Zelinski T, Philipps S, Ekins MB, Greenberg CR.

Am J Hum Genet. 1992 Jul;51(1):156-60.

3.

Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family.

de la Chapelle A, Kere J, Sack GH Jr, Tolvanen R, Maury CP.

Genomics. 1992 Jul;13(3):898-901.

PMID:
1322359
4.

[Gene analysis of Japanese patients with familial amyloidotic polyneuropathy type IV].

Sunada Y, Nakase H, Shimizu T, Mannen T, Kanazawa I.

Rinsho Shinkeigaku. 1992 Aug;32(8):840-4. Japanese.

PMID:
1337024
6.

Corneal disease.

Krachmer JH, Palay DA.

N Engl J Med. 1991 Dec 19;325(25):1804-6. No abstract available.

PMID:
1658655
7.

Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene.

Maury CP, Kere J, Tolvanen R, de la Chapelle A.

FEBS Lett. 1990 Dec 10;276(1-2):75-7.

8.

Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187.

de la Chapelle A, Tolvanen R, Boysen G, Santavy J, Bleeker-Wagemakers L, Maury CP, Kere J.

Nat Genet. 1992 Oct;2(2):157-60.

PMID:
1338910
9.

Gelsolin gene mutation--at codon 187--in familial amyloidosis, Finnish: DNA-diagnostic assay.

Haltia M, Levy E, Meretoja J, Fernandez-Madrid I, Koivunen O, Frangione B.

Am J Med Genet. 1992 Feb 1;42(3):357-9.

PMID:
1311149
10.

Demonstration of a circulating 65K gelsolin variant specific for familial amyloidosis, Finnish type.

Maury CP, Rossi H.

Biochem Biophys Res Commun. 1993 Feb 26;191(1):41-4.

PMID:
8383491
11.

Amyloid protein in familial amyloidosis (Finnish type) is homologous to gelsolin, an actin-binding protein.

Haltia M, Prelli F, Ghiso J, Kiuru S, Somer H, Palo J, Frangione B.

Biochem Biophys Res Commun. 1990 Mar 30;167(3):927-32.

PMID:
2157434
12.

Solid-phase minisequencing test reveals Asp187----Asn (G654----A) mutation of gelsolin in all affected individuals with Finnish type of familial amyloidosis.

Paunio T, Kiuru S, Hongell V, Mustonen E, Syvänen AC, Bengström M, Palo J, Peltonen L.

Genomics. 1992 May;13(1):237-9. No abstract available.

PMID:
1315718
13.

Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families.

Hiltunen T, Kiuru S, Hongell V, Heliö T, Palo J, Peltonen L.

Am J Hum Genet. 1991 Sep;49(3):522-8.

14.

Homozygosity for the Asn187 gelsolin mutation in Finnish-type familial amyloidosis is associated with severe renal disease.

Maury CP, Kere J, Tolvanen R, de la Chapelle A.

Genomics. 1992 Jul;13(3):902-3. No abstract available.

PMID:
1322360
15.

Lattice corneal dystrophy type II: clinical, pathologic, and molecular study in a Spanish family.

Huerva V, Velasco A, Sánchez MC, Mateo AJ, Matías-Guiu X.

Eur J Ophthalmol. 2007 May-Jun;17(3):424-9.

PMID:
17534828
16.

Inherited amyloid polyneuropathy type IV (gelsolin variant) in a Japanese family.

Sunada Y, Shimizu T, Nakase H, Ohta S, Asaoka T, Amano S, Sawa M, Kagawa Y, Kanazawa I, Mannen T.

Ann Neurol. 1993 Jan;33(1):57-62.

PMID:
8388189
17.

Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family.

Stewart HS, Parveen R, Ridgway AE, Bonshek R, Black GC.

Br J Ophthalmol. 2000 Apr;84(4):390-4.

18.

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.

19.

Creation of amyloid fibrils from mutant Asn187 gelsolin peptides.

Maury CP, Nurmiaho-Lassila EL.

Biochem Biophys Res Commun. 1992 Feb 28;183(1):227-31.

PMID:
1311922
20.

TGFBI (BIGH3) gene mutations in Hungary--report of the novel F547S mutation associated with polymorphic corneal amyloidosis.

Takács L, Losonczy G, Matesz K, Balogh I, Sohajda Z, Tóth K, Fazakas F, Vereb G, Berta A.

Mol Vis. 2007 Oct 18;13:1976-83.

PMID:
17982422

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