315 related articles for article (PubMed ID: 24635535)
1. The revised ghent nosology; reclassifying isolated ectopia lentis.
Chandra A; Patel D; Aragon-Martin JA; Pinard A; Collod-Béroud G; Comeglio P; Boileau C; Faivre L; Charteris D; Child AH; Arno G
Clin Genet; 2015 Mar; 87(3):284-7. PubMed ID: 24635535
[TBL] [Abstract][Full Text] [Related]
2. A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.
Chandra A; Aragon-Martin JA; Hughes K; Gati S; Reddy MA; Deshpande C; Cormack G; Child AH; Charteris DG; Arno G
Invest Ophthalmol Vis Sci; 2012 Jul; 53(8):4889-96. PubMed ID: 22736615
[TBL] [Abstract][Full Text] [Related]
3. Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.
Loeys B; Nuytinck L; Delvaux I; De Bie S; De Paepe A
Arch Intern Med; 2001 Nov; 161(20):2447-54. PubMed ID: 11700157
[TBL] [Abstract][Full Text] [Related]
4. Revised Ghent Criteria is Comparable to Original Diagnostic Criteria for Marfan Syndrome with Increased Ability to Clinically Diagnose Related Disorders.
Penpattharakul W; Pithukpakorn M
J Med Assoc Thai; 2016 Jan; 99(1):34-9. PubMed ID: 27455822
[TBL] [Abstract][Full Text] [Related]
5. Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome.
Kainulainen K; Karttunen L; Puhakka L; Sakai L; Peltonen L
Nat Genet; 1994 Jan; 6(1):64-9. PubMed ID: 8136837
[TBL] [Abstract][Full Text] [Related]
6. Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion.
Faivre L; Collod-Beroud G; Callewaert B; Child A; Loeys BL; Binquet C; Gautier E; Arbustini E; Mayer K; Arslan-Kirchner M; Kiotsekoglou A; Comeglio P; Grasso M; Beroud C; Bonithon-Kopp C; Claustres M; Stheneur C; Bouchot O; Wolf JE; Robinson PN; Adès L; De Backer J; Coucke P; Francke U; De Paepe A; Boileau C; Jondeau G
Am J Med Genet A; 2009 May; 149A(5):854-60. PubMed ID: 19353630
[TBL] [Abstract][Full Text] [Related]
7. The roles of two novel FBN1 gene mutations in the genotype-phenotype correlations of Marfan syndrome and ectopia lentis patients with marfanoid habitus.
Li D; Yu J; Gu F; Pang X; Ma X; Li R; Liu N; Ma X
Genet Test; 2008 Jun; 12(2):325-30. PubMed ID: 18471089
[TBL] [Abstract][Full Text] [Related]
8. Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.
Aragon-Martin JA; Ahnood D; Charteris DG; Saggar A; Nischal KK; Comeglio P; Chandra A; Child AH; Arno G
Hum Mutat; 2010 Aug; 31(8):E1622-31. PubMed ID: 20564469
[TBL] [Abstract][Full Text] [Related]
9. Early onset ectopia lentis due to a FBN1 mutation with non-penetrance.
Zhang L; Lai YH; Capasso JE; Han S; Levin AV
Am J Med Genet A; 2015 Jun; 167(6):1365-8. PubMed ID: 25900864
[TBL] [Abstract][Full Text] [Related]
10. Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.
Robinson PN; Booms P; Katzke S; Ladewig M; Neumann L; Palz M; Pregla R; Tiecke F; Rosenberg T
Hum Mutat; 2002 Sep; 20(3):153-61. PubMed ID: 12203987
[TBL] [Abstract][Full Text] [Related]
11. A comparison of the Ghent and revised Ghent nosologies for the diagnosis of Marfan syndrome in an adult Korean population.
Yang JH; Han H; Jang SY; Moon JR; Sung K; Chung TY; Lee HJ; Ki CS; Kim DK
Am J Med Genet A; 2012 May; 158A(5):989-95. PubMed ID: 22162372
[TBL] [Abstract][Full Text] [Related]
12. The new Ghent criteria for Marfan syndrome: what do they change?
Faivre L; Collod-Beroud G; Adès L; Arbustini E; Child A; Callewaert BL; Loeys B; Binquet C; Gautier E; Mayer K; Arslan-Kirchner M; Grasso M; Beroud C; Hamroun D; Bonithon-Kopp C; Plauchu H; Robinson PN; De Backer J; Coucke P; Francke U; Bouchot O; Wolf JE; Stheneur C; Hanna N; Detaint D; De Paepe A; Boileau C; Jondeau G
Clin Genet; 2012 May; 81(5):433-42. PubMed ID: 21564093
[TBL] [Abstract][Full Text] [Related]
13. Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.
Körkkö J; Kaitila I; Lönnqvist L; Peltonen L; Ala-Kokko L
J Med Genet; 2002 Jan; 39(1):34-41. PubMed ID: 11826022
[TBL] [Abstract][Full Text] [Related]
14. Ectopia lentis phenotypes and the FBN1 gene.
Adès LC; Holman KJ; Brett MS; Edwards MJ; Bennetts B
Am J Med Genet A; 2004 Apr; 126A(3):284-9. PubMed ID: 15054843
[TBL] [Abstract][Full Text] [Related]
15. Ectopia lentis as the presenting and primary feature in Marfan syndrome.
Zadeh N; Bernstein JA; Niemi AK; Dugan S; Kwan A; Liang D; Hyland JC; Hoyme HE; Hudgins L; Manning MA
Am J Med Genet A; 2011 Nov; 155A(11):2661-8. PubMed ID: 21932315
[TBL] [Abstract][Full Text] [Related]
16. Is ectopia lentis in some cases a mild phenotypic expression of Marfan syndrome? Need for a long-term follow-up.
Pepe G; Lapini I; Evangelisti L; Attanasio M; Giusti B; Lucarini L; Fattori R; Pellicanò G; Scrivanti M; Porciani MC; Abbate R; Gensini GF
Mol Vis; 2007 Nov; 13():2242-7. PubMed ID: 18087243
[TBL] [Abstract][Full Text] [Related]
17. A novel mutation of the fibrillin gene causing ectopia lentis.
Lönnqvist L; Child A; Kainulainen K; Davidson R; Puhakka L; Peltonen L
Genomics; 1994 Feb; 19(3):573-6. PubMed ID: 8188302
[TBL] [Abstract][Full Text] [Related]
18. A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin.
Vanita V; Singh JR; Singh D; Varon R; Robinson PN; Sperling K
Mol Vis; 2007 Oct; 13():2035-40. PubMed ID: 18079676
[TBL] [Abstract][Full Text] [Related]
19. Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy.
Turner CL; Emery H; Collins AL; Howarth RJ; Yearwood CM; Cross E; Duncan PJ; Bunyan DJ; Harvey JF; Foulds NC
Am J Med Genet A; 2009 Feb; 149A(2):161-70. PubMed ID: 19161152
[TBL] [Abstract][Full Text] [Related]
20. Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants.
Baudhuin LM; Kotzer KE; Lagerstedt SA
J Hum Genet; 2015 May; 60(5):241-52. PubMed ID: 25652356
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
