165 related articles for article (PubMed ID: 23794388)
61. Next-generation sequencing panel analysis in 24 Chinese patients with congenital ectopia lentis.
Qi M; Wang C; Liu Y; Shi X; Rong W
Int Ophthalmol; 2022 Jul; 42(7):2245-2253. PubMed ID: 35612688
[TBL] [Abstract][Full Text] [Related]
62. The FBN1 (R2726W) mutation is not fully penetrant.
Buoni S; Zannolli R; Macucci F; Ansaldi S; Grasso M; Arbustini E; Fois A
Ann Hum Genet; 2004 Nov; 68(Pt 6):633-8. PubMed ID: 15598221
[TBL] [Abstract][Full Text] [Related]
63. Ascending aortic aneurysm with or without features of Marfan syndrome and other fibrillinopathies: new insights.
Furthmayr H; Francke U
Semin Thorac Cardiovasc Surg; 1997 Jul; 9(3):191-205. PubMed ID: 9263339
[TBL] [Abstract][Full Text] [Related]
64. Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.
Biggin A; Holman K; Brett M; Bennetts B; Adès L
Hum Mutat; 2004 Jan; 23(1):99. PubMed ID: 14695540
[TBL] [Abstract][Full Text] [Related]
65. Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.
Chung BH; Lam ST; Tong TM; Li SY; Lun KS; Chan DH; Fok SF; Or JS; Smith DK; Yang W; Lau YL
Am J Med Genet A; 2009 Jul; 149A(7):1452-9. PubMed ID: 19533785
[TBL] [Abstract][Full Text] [Related]
66. Juvenile bilateral lens dislocation and glaucoma associated with a novel mutation in the fibrillin 1 gene.
Challa P; Hauser MA; Luna CC; Freedman SF; Pericak-Vance M; Yang J; McDonald MT; Allingham RR
Mol Vis; 2006 Aug; 12():1009-15. PubMed ID: 16971892
[TBL] [Abstract][Full Text] [Related]
67. 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]
68. Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.
Arbustini E; Grasso M; Ansaldi S; Malattia C; Pilotto A; Porcu E; Disabella E; Marziliano N; Pisani A; Lanzarini L; Mannarino S; Larizza D; Mosconi M; Antoniazzi E; Zoia MC; Meloni G; Magrassi L; Brega A; Bedeschi MF; Torrente I; Mari F; Tavazzi L
Hum Mutat; 2005 Nov; 26(5):494. PubMed ID: 16222657
[TBL] [Abstract][Full Text] [Related]
69. Identification and study of a FBN1 gene mutation in a Chinese family with ectopia lentis.
Li H; Qu W; Meng B; Zhang S; Yang T; Huang S; Yuan H
Mol Vis; 2012; 18():504-11. PubMed ID: 22393277
[TBL] [Abstract][Full Text] [Related]
70. 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]
71. Sequence variations in the 5' upstream regions of the FBN1 gene associated with Marfan syndrome.
Singh KK; Shukla PC; Rommel K; Schmidtke J; Arslan-Kirchner M
Eur J Hum Genet; 2006 Jul; 14(7):876-9. PubMed ID: 16617303
[TBL] [Abstract][Full Text] [Related]
72. The molecular genetics of Marfan syndrome and related microfibrillopathies.
Robinson PN; Godfrey M
J Med Genet; 2000 Jan; 37(1):9-25. PubMed ID: 10633129
[TBL] [Abstract][Full Text] [Related]
73. Correlation between FBN1 mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies.
Chen ZX; Chen TH; Zhang M; Chen JH; Lan LN; Deng M; Zheng JL; Jiang YX
Hum Mutat; 2021 Dec; 42(12):1637-1647. PubMed ID: 34550612
[TBL] [Abstract][Full Text] [Related]
74. Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.
Graul-Neumann LM; Kienitz T; Robinson PN; Baasanjav S; Karow B; Gillessen-Kaesbach G; Fahsold R; Schmidt H; Hoffmann K; Passarge E
Am J Med Genet A; 2010 Nov; 152A(11):2749-55. PubMed ID: 20979188
[TBL] [Abstract][Full Text] [Related]
75. Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2.
Sheikhzadeh S; Rybczynski M; Habermann CR; Bernhardt AM; Arslan-Kirchner M; Keyser B; Kaemmerer H; Mir TS; Staebler A; Oezdal N; Robinson PN; Berger J; Meinertz T; von Kodolitsch Y
Clin Genet; 2011 Jun; 79(6):568-74. PubMed ID: 20662850
[TBL] [Abstract][Full Text] [Related]
76. Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.
Faivre L; Collod-Beroud G; Callewaert B; Child A; Binquet C; Gautier E; Loeys BL; Arbustini E; Mayer K; Arslan-Kirchner M; Stheneur C; Kiotsekoglou A; Comeglio P; Marziliano N; Wolf JE; Bouchot O; Khau-Van-Kien P; Beroud C; Claustres M; Bonithon-Kopp C; Robinson PN; Adès L; De Backer J; Coucke P; Francke U; De Paepe A; Jondeau G; Boileau C
Eur J Hum Genet; 2009 Apr; 17(4):491-501. PubMed ID: 19002209
[TBL] [Abstract][Full Text] [Related]
77. The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele.
Aubart M; Gross MS; Hanna N; Zabot MT; Sznajder M; Detaint D; Gouya L; Jondeau G; Boileau C; Stheneur C
Hum Mol Genet; 2015 May; 24(10):2764-70. PubMed ID: 25652400
[TBL] [Abstract][Full Text] [Related]
78. A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum.
Peng Q; Deng Y; Yang Y; Liu H
BMC Pediatr; 2016 Apr; 16():60. PubMed ID: 27138491
[TBL] [Abstract][Full Text] [Related]
79. Compound-heterozygous Marfan syndrome.
Van Dijk FS; Hamel BC; Hilhorst-Hofstee Y; Mulder BJ; Timmermans J; Pals G; Cobben JM
Eur J Med Genet; 2009; 52(1):1-5. PubMed ID: 19059503
[TBL] [Abstract][Full Text] [Related]
80. Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study.
Tsipouras P; Del Mastro R; Sarfarazi M; Lee B; Vitale E; Child AH; Godfrey M; Devereux RB; Hewett D; Steinmann B
N Engl J Med; 1992 Apr; 326(14):905-9. PubMed ID: 1542340
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
