165 related articles for article (PubMed ID: 23794388)
1. Juvenile idiopathic arthritis, mitral valve prolapse and a familial variant involving the integrin-binding fragment of FBN1.
Wilson BT; Jensen SA; McAnulty CP; Brennan P; Handford PA
Am J Med Genet A; 2013 Aug; 161A(8):2047-51. PubMed ID: 23794388
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.
Cecchi A; Ogawa N; Martinez HR; Carlson A; Fan Y; Penny DJ; Guo DC; Eisenberg S; Safi H; Estrera A; Lewis RA; Meyers D; Milewicz DM
Am J Med Genet A; 2013 Sep; 161A(9):2305-10. PubMed ID: 23897642
[TBL] [Abstract][Full Text] [Related]
4. The clinical spectrum of complete FBN1 allele deletions.
Hilhorst-Hofstee Y; Hamel BC; Verheij JB; Rijlaarsdam ME; Mancini GM; Cobben JM; Giroth C; Ruivenkamp CA; Hansson KB; Timmermans J; Moll HA; Breuning MH; Pals G
Eur J Hum Genet; 2011 Mar; 19(3):247-52. PubMed ID: 21063442
[TBL] [Abstract][Full Text] [Related]
5. Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.
Attias D; Stheneur C; Roy C; Collod-Béroud G; Detaint D; Faivre L; Delrue MA; Cohen L; Francannet C; Béroud C; Claustres M; Iserin F; Khau Van Kien P; Lacombe D; Le Merrer M; Lyonnet S; Odent S; Plauchu H; Rio M; Rossi A; Sidi D; Steg PG; Ravaud P; Boileau C; Jondeau G
Circulation; 2009 Dec; 120(25):2541-9. PubMed ID: 19996017
[TBL] [Abstract][Full Text] [Related]
6. Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review.
Reyes-Hernández OD; Palacios-Reyes C; Chávez-Ocaña S; Cortés-Malagón EM; Alonso-Themann PG; Ramos-Cano V; Ramírez-Bello J; Sierra-Martínez M
BMC Musculoskelet Disord; 2016 Feb; 17():79. PubMed ID: 26875674
[TBL] [Abstract][Full Text] [Related]
7. Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.
Faivre L; Collod-Beroud G; Loeys BL; Child A; Binquet C; Gautier E; Callewaert B; Arbustini E; Mayer K; Arslan-Kirchner M; Kiotsekoglou A; Comeglio P; Marziliano N; Dietz HC; Halliday D; Beroud C; Bonithon-Kopp C; Claustres M; Muti C; Plauchu H; Robinson PN; Adès LC; Biggin A; Benetts B; Brett M; Holman KJ; De Backer J; Coucke P; Francke U; De Paepe A; Jondeau G; Boileau C
Am J Hum Genet; 2007 Sep; 81(3):454-66. PubMed ID: 17701892
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
Le Goff C; Mahaut C; Wang LW; Allali S; Abhyankar A; Jensen S; Zylberberg L; Collod-Beroud G; Bonnet D; Alanay Y; Brady AF; Cordier MP; Devriendt K; Genevieve D; Kiper PÖ; Kitoh H; Krakow D; Lynch SA; Le Merrer M; Mégarbane A; Mortier G; Odent S; Polak M; Rohrbach M; Sillence D; Stolte-Dijkstra I; Superti-Furga A; Rimoin DL; Topouchian V; Unger S; Zabel B; Bole-Feysot C; Nitschke P; Handford P; Casanova JL; Boileau C; Apte SS; Munnich A; Cormier-Daire V
Am J Hum Genet; 2011 Jul; 89(1):7-14. PubMed ID: 21683322
[TBL] [Abstract][Full Text] [Related]
10. Phenotype presentation for a novel mutation affecting a conserved cysteine residue in exon 63 of fibrillin-1 (Cys2633Arg).
Stevic I; Kozenko M; Lostracco R; Chan AK; Chan HH
Biochem Genet; 2014 Jun; 52(5-6):225-32. PubMed ID: 24504995
[TBL] [Abstract][Full Text] [Related]
11. Cardiovascular manifestations in men and women carrying a FBN1 mutation.
Détaint D; Faivre L; Collod-Beroud G; Child AH; Loeys BL; Binquet C; Gautier E; Arbustini E; Mayer K; Arslan-Kirchner M; Stheneur C; Halliday D; Beroud C; Bonithon-Kopp C; Claustres M; Plauchu H; Robinson PN; Kiotsekoglou A; De Backer J; Adès L; Francke U; De Paepe A; Boileau C; Jondeau G
Eur Heart J; 2010 Sep; 31(18):2223-9. PubMed ID: 20709720
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. FBN1 gene mutation characteristics and clinical features for the prediction of mitral valve disease progression.
Kühne K; Keyser B; Groene EF; Sheikhzadeh S; Detter C; Lorenzen V; Hillebrand M; Bernhardt AM; Hoffmann B; Mir TS; Robinson PN; Berger J; Reichenspurner H; von Kodolitsch Y; Rybczynski M
Int J Cardiol; 2013 Sep; 168(2):953-9. PubMed ID: 23176764
[TBL] [Abstract][Full Text] [Related]
15. Association between fibrillin-1 gene exon 15 and 27 polymorphisms and risk of mitral valve prolapse.
Chou HT; Shi YR; Hsu Y; Tsai FJ
J Heart Valve Dis; 2003 Jul; 12(4):475-81. PubMed ID: 12918850
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome.
Micheal S; Khan MI; Akhtar F; Weiss MM; Islam F; Ali M; Qamar R; Maugeri A; den Hollander AI
Mol Vis; 2012; 18():1918-26. PubMed ID: 22876116
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome.
Montgomery RA; Geraghty MT; Bull E; Gelb BD; Johnson M; McIntosh I; Francomano CA; Dietz HC
Am J Hum Genet; 1998 Dec; 63(6):1703-11. PubMed ID: 9837823
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]