248 related articles for article (PubMed ID: 24613577)
1. Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.
Jacquinet A; Verloes A; Callewaert B; Coremans C; Coucke P; de Paepe A; Kornak U; Lebrun F; Lombet J; Piérard GE; Robinson PN; Symoens S; Van Maldergem L; Debray FG
Eur J Med Genet; 2014 Apr; 57(5):230-4. PubMed ID: 24613577
[TBL] [Abstract][Full Text] [Related]
2. Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.
Takenouchi T; Hida M; Sakamoto Y; Torii C; Kosaki R; Takahashi T; Kosaki K
Am J Med Genet A; 2013 Dec; 161A(12):3057-62. PubMed ID: 24039054
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy.
Passarge E; Robinson PN; Graul-Neumann LM
Eur J Hum Genet; 2016 Aug; 24(9):1244-7. PubMed ID: 26860060
[TBL] [Abstract][Full Text] [Related]
5. Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene.
Horn D; Robinson PN
Am J Med Genet A; 2011 Apr; 155A(4):721-4. PubMed ID: 21594993
[TBL] [Abstract][Full Text] [Related]
6. Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene.
Goldblatt J; Hyatt J; Edwards C; Walpole I
Am J Med Genet A; 2011 Apr; 155A(4):717-20. PubMed ID: 21594992
[TBL] [Abstract][Full Text] [Related]
7. De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy.
Garg A; Xing C
Am J Med Genet A; 2014 May; 164A(5):1341-5. PubMed ID: 24665001
[No Abstract] [Full Text] [Related]
8. Truncated C-terminus of fibrillin-1 induces Marfanoid-progeroid-lipodystrophy (MPL) syndrome in rabbit.
Chen M; Yao B; Yang Q; Deng J; Song Y; Sui T; Zhou L; Yao H; Xu Y; Ouyang H; Pang D; Li Z; Lai L
Dis Model Mech; 2018 Apr; 11(4):. PubMed ID: 29666143
[TBL] [Abstract][Full Text] [Related]
9. Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1.
Lin M; Liu Z; Liu G; Zhao S; Li C; Chen W; Coban Akdemir Z; Lin J; Song X; Wang S; Xu Q; Zhao Y; Wang L; Zhang Y; Yan Z; Liu S; Liu J; Chen Y; Zuo Y; Yang X; Sun T; Yang XZ; Niu Y; Li X; You W; Qiu B; Ding C; Liu P; Zhang S; Carvalho CMB; Posey JE; Qiu G; ; Lupski JR; Wu Z; Zhang J; Wu N
Mol Genet Genomic Med; 2020 Jan; 8(1):e1023. PubMed ID: 31774634
[TBL] [Abstract][Full Text] [Related]
10. Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations.
Rommel K; Karck M; Haverich A; Schmidtke J; Arslan-Kirchner M
Hum Mutat; 2002 Nov; 20(5):406-7. PubMed ID: 12402346
[TBL] [Abstract][Full Text] [Related]
11. A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly.
Hayward C; Porteous ME; Brock DJ
Mol Cell Probes; 1994 Aug; 8(4):325-7. PubMed ID: 7870075
[TBL] [Abstract][Full Text] [Related]
12. 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]
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. A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.
Milewicz DM; Grossfield J; Cao SN; Kielty C; Covitz W; Jewett T
J Clin Invest; 1995 May; 95(5):2373-8. PubMed ID: 7738200
[TBL] [Abstract][Full Text] [Related]
15. Neonatal Marfan syndrome caused by an exon 25 mutation of the fibrillin-1 gene.
Elçioglu NH; Akalin F; Elçioglu M; Comeglio P; Child AH
Genet Couns; 2004; 15(2):219-25. PubMed ID: 15287423
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.
Rommel K; Karck M; Haverich A; von Kodolitsch Y; Rybczynski M; Müller G; Singh KK; Schmidtke J; Arslan-Kirchner M
Hum Mutat; 2005 Dec; 26(6):529-39. PubMed ID: 16220557
[TBL] [Abstract][Full Text] [Related]
18. Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene.
Putnam EA; Cho M; Zinn AB; Towbin JA; Byers PH; Milewicz DM
Am J Med Genet; 1996 Mar; 62(3):233-42. PubMed ID: 8882780
[TBL] [Abstract][Full Text] [Related]
19. Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.
Tiecke F; Katzke S; Booms P; Robinson PN; Neumann L; Godfrey M; Mathews KR; Scheuner M; Hinkel GK; Brenner RE; Hövels-Gürich HH; Hagemeier C; Fuchs J; Skovby F; Rosenberg T
Eur J Hum Genet; 2001 Jan; 9(1):13-21. PubMed ID: 11175294
[TBL] [Abstract][Full Text] [Related]
20. Marfan syndrome type II: there is more to Marfan syndrome than fibrillin 1.
Zangwill SD; Brown MD; Bryke CR; Cava JR; Segura AD
Congenit Heart Dis; 2006 Sep; 1(5):229-32. PubMed ID: 18377530
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
