146 related articles for article (PubMed ID: 21594992)
41. 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]
42. 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]
43. Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.
Schrijver I; Liu W; Odom R; Brenn T; Oefner P; Furthmayr H; Francke U
Am J Hum Genet; 2002 Aug; 71(2):223-37. PubMed ID: 12068374
[TBL] [Abstract][Full Text] [Related]
44. Novel exon skipping mutation in the fibrillin-1 gene: two 'hot spots' for the neonatal Marfan syndrome.
Booms P; Cisler J; Mathews KR; Godfrey M; Tiecke F; Kaufmann UC; Vetter U; Hagemeier C; Robinson PN
Clin Genet; 1999 Feb; 55(2):110-7. PubMed ID: 10189088
[TBL] [Abstract][Full Text] [Related]
45. Severe Marfan syndrome due to FBN1 exon deletions.
Blyth M; Foulds N; Turner C; Bunyan D
Am J Med Genet A; 2008 May; 146A(10):1320-4. PubMed ID: 18412115
[TBL] [Abstract][Full Text] [Related]
46. Multi-exon out of frame deletion of the FBN1 gene leading to a severe juvenile onset cardiovascular phenotype in Marfan syndrome.
Singh KK; Elligsen D; Liersch R; Schubert S; Pabst B; Arslan-Kirchner M; Schmidtke J
J Mol Cell Cardiol; 2007 Feb; 42(2):352-6. PubMed ID: 17189636
[TBL] [Abstract][Full Text] [Related]
47. 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]
48. Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.
Tjeldhorn L; Amundsen SS; Barøy T; Rand-Hendriksen S; Geiran O; Frengen E; Paus B
BMC Med Genet; 2015 Dec; 16():113. PubMed ID: 26684006
[TBL] [Abstract][Full Text] [Related]
49. Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome.
El-Aleem AA; Karck M; Haverich A; Schmidtke J; Arslan-Kirchner M
Hum Mutat; 1999 Aug; 14(2):181. PubMed ID: 10425041
[TBL] [Abstract][Full Text] [Related]
50. 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]
51. 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]
52. 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]
53. Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome.
Adès LC; Haan EA; Colley AF; Richard RI
J Med Genet; 1996 Aug; 33(8):665-71. PubMed ID: 8863159
[TBL] [Abstract][Full Text] [Related]
54. A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype.
Booms P; Withers AP; Boxer M; Kaufmann UC; Hagemeier C; Vetter U; Robinson PN
Hum Genet; 1997 Aug; 100(2):195-200. PubMed ID: 9254848
[TBL] [Abstract][Full Text] [Related]
55. A single heterozygous nucleotide substitution displays two different altered mechanisms in the FBN1 gene of five Italian Marfan patients.
Evangelisti L; Lucarini L; Attanasio M; Lapini I; Giusti B; Porciani C; Gensini GF; Abbate R; Pepe G
Eur J Med Genet; 2010; 53(5):299-302. PubMed ID: 20538085
[TBL] [Abstract][Full Text] [Related]
56. Co-occurrence of Marfan syndrome and schizophrenia: what can be learned?
Van Den Bossche MJ; Van Wallendael KL; Strazisar M; Sabbe B; Del-Favero J
Eur J Med Genet; 2012 Apr; 55(4):252-5. PubMed ID: 22406088
[TBL] [Abstract][Full Text] [Related]
57. 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]
58. Six novel mutations of the fibrillin-1 gene in Korean patients with Marfan syndrome.
Oh MR; Kim JS; Beck NS; Yoo HW; Lee HJ; Kohsaka T; Jin DK
Pediatr Int; 2000 Oct; 42(5):488-91. PubMed ID: 11059536
[TBL] [Abstract][Full Text] [Related]
59. 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]
60. 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]
[Previous] [Next] [New Search]
