292 related articles for article (PubMed ID: 23744319)
1. [Detection of pathogenic mutations in Marfan syndrome by targeted next-generation semiconductor sequencing].
Lu C; Wu W; Xiao J; Meng Y; Zhang S; Zhang X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Jun; 30(3):301-4. PubMed ID: 23744319
[TBL] [Abstract][Full Text] [Related]
2. [Detection of pathogenic mutations for methylmalonic acidemia using new-generation semiconductor targeted sequencing].
Sun Y; Jiang T; Ma D; Yang G; Yang B; Wang Y; Xu Z
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Feb; 32(1):56-9. PubMed ID: 25636100
[TBL] [Abstract][Full Text] [Related]
3. Detection of variations and identifying genomic breakpoints for large deletions in the LDLR by Ion Torrent semiconductor sequencing.
Faiz F; Allcock RJ; Hooper AJ; van Bockxmeer FM
Atherosclerosis; 2013 Oct; 230(2):249-55. PubMed ID: 24075752
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes.
Baetens M; Van Laer L; De Leeneer K; Hellemans J; De Schrijver J; Van De Voorde H; Renard M; Dietz H; Lacro RV; Menten B; Van Criekinge W; De Backer J; De Paepe A; Loeys B; Coucke PJ
Hum Mutat; 2011 Sep; 32(9):1053-62. PubMed ID: 21542060
[TBL] [Abstract][Full Text] [Related]
6. Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders.
Liu WO; Oefner PJ; Qian C; Odom RS; Francke U
Genet Test; 1997-1998; 1(4):237-42. PubMed ID: 10464652
[TBL] [Abstract][Full Text] [Related]
7. [Screening for genetic mutations in hyperphenylalaninemia using Ion Torrent PGM sequencing].
Cao Y; Qu Y; Song F; Bai J; Jin Y; Wang H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Feb; 32(1):16-20. PubMed ID: 25636092
[TBL] [Abstract][Full Text] [Related]
8. FBN1 mutation in Chinese patients with Marfan syndrome and its gene diagnosis using haplotype linkage analysis.
Wang B; Hu D; Xia J; Li Q; Yang J; Lu G
Chin Med J (Engl); 2003 Jul; 116(7):1043-6. PubMed ID: 12890380
[TBL] [Abstract][Full Text] [Related]
9. Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy.
Tjeldhorn L; Rand-Hendriksen S; Gervin K; Brandal K; Inderhaug E; Geiran O; Paus B
Genet Test; 2006; 10(4):258-64. PubMed ID: 17253931
[TBL] [Abstract][Full Text] [Related]
10. FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations.
Attanasio M; Lapini I; Evangelisti L; Lucarini L; Giusti B; Porciani M; Fattori R; Anichini C; Abbate R; Gensini G; Pepe G
Clin Genet; 2008 Jul; 74(1):39-46. PubMed ID: 18435798
[TBL] [Abstract][Full Text] [Related]
11. An FBN1 deep intronic mutation in a familial case of Marfan syndrome: an explanation for genetically unsolved cases?
Gillis E; Kempers M; Salemink S; Timmermans J; Cheriex EC; Bekkers SC; Fransen E; De Die-Smulders CE; Loeys BL; Van Laer L
Hum Mutat; 2014 May; 35(5):571-4. PubMed ID: 24610719
[TBL] [Abstract][Full Text] [Related]
12. Dural ectasia and FBN1 mutation screening of 40 patients with Marfan syndrome and related disorders: role of dural ectasia for the diagnosis.
Attanasio M; Pratelli E; Porciani MC; Evangelisti L; Torricelli E; Pellicanò G; Abbate R; Gensini GF; Pepe G
Eur J Med Genet; 2013 Jul; 56(7):356-60. PubMed ID: 23684891
[TBL] [Abstract][Full Text] [Related]
13. Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene.
Mátyás G; De Paepe A; Halliday D; Boileau C; Pals G; Steinmann B
Hum Mutat; 2002 Apr; 19(4):443-56. PubMed ID: 11933199
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome.
Matsukawa R; Iida K; Nakayama M; Mukai T; Okita Y; Ando M; Takamoto S; Nakajima N; Morisaki H; Morisaki T
Hum Mutat; 2001; 17(1):71-2. PubMed ID: 11139245
[TBL] [Abstract][Full Text] [Related]
16. [Two gene mutations in fibrillin 1 of Marfan syndrome].
Chen XJ; Wu YA; Chen FW; Chen FL; Huang Y; Huang XL; Ma XN; Chen T
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Aug; 24(4):440-2. PubMed ID: 17680538
[TBL] [Abstract][Full Text] [Related]
17. [Two novel mutations in fibrillin-1 gene of Marfan syndrome].
Huang X; Wu Y; Chen F; Huang Y; Ma X; Chen T
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Dec; 21(6):562-5. PubMed ID: 15583982
[TBL] [Abstract][Full Text] [Related]
18. Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.
Loeys B; De Backer J; Van Acker P; Wettinck K; Pals G; Nuytinck L; Coucke P; De Paepe A
Hum Mutat; 2004 Aug; 24(2):140-6. PubMed ID: 15241795
[TBL] [Abstract][Full Text] [Related]
19. Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients.
Uyeda T; Takahashi T; Eto S; Sato T; Xu G; Kanezaki R; Toki T; Yonesaka S; Ito E
J Hum Genet; 2004; 49(8):404-407. PubMed ID: 15221638
[TBL] [Abstract][Full Text] [Related]
20. [Mutation analysis and prenatal diagnosis of FBN1 gene mutations for four patients with Marfan syndrome].
Song SQ; Zhao BJ; Li S; Zhang JQ; Wang H; Jia CW; Zhang FH; Zhang X; Xie JS
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Oct; 30(5):534-8. PubMed ID: 24078565
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
