292 related articles for article (PubMed ID: 23744319)
41. [Genotypic characterization of a Portuguese population of Marfan syndrome patients].
Lebreiro A; Martins E; Cruz C; Almeida J; Pimenta S; Bernardes M; Carlos Machado J; Júlia Maciel M; Abreu-Lima C
Rev Port Cardiol; 2011 Jul; 30(7-8):649-54. PubMed ID: 22005308
[TBL] [Abstract][Full Text] [Related]
42. Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition.
Sutherell J; Zarate Y; Tinkle BT; Markham LW; Cripe LH; Hyland JC; Witte D; Hopkin RJ; Hinton RB
Congenit Heart Dis; 2007; 2(5):342-6. PubMed ID: 18377451
[TBL] [Abstract][Full Text] [Related]
43. Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome.
Aalberts JJ; van Tintelen JP; Meijboom LJ; Polko A; Jongbloed JD; van der Wal H; Pals G; Osinga J; Timmermans J; de Backer J; Bakker MK; van Veldhuisen DJ; Hofstra RM; Mulder BJ; van den Berg MP
Gene; 2014 Jan; 534(1):40-3. PubMed ID: 24161884
[TBL] [Abstract][Full Text] [Related]
44. Identification of 8 new mutations in Brazilian families with Marfan syndrome. Mutations in brief no. 211. Online.
Perez AB; Pereira LV; Brunoni D; Zatz M; Passos-Bueno MR
Hum Mutat; 1999; 13(1):84. PubMed ID: 10189222
[TBL] [Abstract][Full Text] [Related]
45. [Fibrillin-1 gene mutation in Chinese patients with Marfan syndrome and its gene diagnosis by haplotype analysis].
Wang B; Hu DX; Xia JH; Li Q; Lu GH
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Feb; 20(1):1-4. PubMed ID: 12579488
[TBL] [Abstract][Full Text] [Related]
46. Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome.
Chikumi H; Yamamoto T; Ohta Y; Nanba E; Nagata K; Ninomiya H; Narasaki K; Katoh T; Hisatome I; Ono K; Tanaka Y; Kuroda H; Ohgi S
J Hum Genet; 2000; 45(2):115-8. PubMed ID: 10721679
[TBL] [Abstract][Full Text] [Related]
47. Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis.
Hung CC; Lin SY; Lee CN; Cheng HY; Lin CY; Chang CH; Chiu HH; Yu CC; Lin SP; Cheng WF; Ho HN; Niu DM; Su YN
Anal Biochem; 2009 Jun; 389(2):102-6. PubMed ID: 19328768
[TBL] [Abstract][Full Text] [Related]
48. Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype.
Gupta PA; Putnam EA; Carmical SG; Kaitila I; Steinmann B; Child A; Danesino C; Metcalfe K; Berry SA; Chen E; Delorme CV; Thong MK; Adès LC; Milewicz DM
Hum Mutat; 2002 Jan; 19(1):39-48. PubMed ID: 11754102
[TBL] [Abstract][Full Text] [Related]
49. The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
Comeglio P; Johnson P; Arno G; Brice G; Evans A; Aragon-Martin J; da Silva FP; Kiotsekoglou A; Child A
Hum Mutat; 2007 Sep; 28(9):928. PubMed ID: 17657824
[TBL] [Abstract][Full Text] [Related]
50. Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome.
Ma M; Li Z; Wang DW; Wei X
Mol Med Rep; 2016 Jul; 14(1):151-8. PubMed ID: 27175573
[TBL] [Abstract][Full Text] [Related]
51. Identification of two novel large deletions in FBN1 gene by next-generation sequencing and multiplex ligation-dependent probe amplification.
Lu X; Wang R; Li M; Zhang B; Rao H; Huang X; Chen X; Wu Y
BMC Med Genomics; 2024 Feb; 17(1):47. PubMed ID: 38317175
[TBL] [Abstract][Full Text] [Related]
52. Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome.
de Vries BB; Pals G; Odink R; Hamel BC
Eur J Hum Genet; 2007 Sep; 15(9):930-5. PubMed ID: 17568394
[TBL] [Abstract][Full Text] [Related]
53. 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]
54. Missense mutations of the fibrillin-1 gene in two Chinese patients with severe Marfan syndrome.
Lo IF; Wong RM; Lam FW; Tong TM; Lam ST
Chin Med J (Engl); 2001 May; 114(5):473-6. PubMed ID: 11780406
[TBL] [Abstract][Full Text] [Related]
55. 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]
56. Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.
Mannucci L; Luciano S; Salehi LB; Gigante L; Conte C; Longo G; Ferradini V; Piumelli N; Brancati F; Ruvolo G; Novelli G; Sangiuolo F
Clin Chim Acta; 2020 Feb; 501():154-164. PubMed ID: 31730815
[TBL] [Abstract][Full Text] [Related]
57. Combining clinical examination with exome sequencing for the diagnosis and treatment of Marfan syndrome: a case series of 6 families from China.
Duan Y; Li P; Ding T; Wang Y; Liao Y; Du Z; Ling J; Liu S; Li W; Liu Z
Ann Palliat Med; 2021 Sep; 10(9):9953-9962. PubMed ID: 34628919
[TBL] [Abstract][Full Text] [Related]
58. 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]
59. Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease.
Li J; Lu C; Wu W; Liu Y; Wang R; Si N; Meng X; Zhang S; Zhang X
Sci China Life Sci; 2019 Dec; 62(12):1630-1637. PubMed ID: 31098894
[TBL] [Abstract][Full Text] [Related]
60. De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome.
Faivre L; Khau Van Kien P; Callier P; Ruiz-Pallares N; Baudoin C; Plancke A; Wolf JE; Thauvin-Robinet C; Durand E; Minot D; Dulieu V; Metaizeau JD; Leheup B; Coron F; Bidot S; Huet F; Jondeau G; Boileau C; Claustres M; Mugneret F
Eur J Med Genet; 2010; 53(4):208-12. PubMed ID: 20478419
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
