216 related articles for article (PubMed ID: 10441700)
1. Acute mitral regurgitation due to chordal rupture in a patient with neonatal Marfan syndrome caused by a deletion in exon 29 of the FBN1 gene.
Weidenbach M; Brenner R; Rantamäki T; Redel DA
Pediatr Cardiol; 1999; 20(5):382-5. PubMed ID: 10441700
[TBL] [Abstract][Full Text] [Related]
2. Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature.
Revencu N; Quenum G; Detaille T; Verellen G; De Paepe A; Verellen-Dumoulin C
Eur J Pediatr; 2004 Jan; 163(1):33-7. PubMed ID: 14586646
[TBL] [Abstract][Full Text] [Related]
3. Neonatal Marfan syndrome: unusually large deletion of exons 24-26 of FBN1 associated with poor prognosis.
Apitz C; Mackensen-Haen S; Girisch M; Kerst G; Wiegand G; Stuhrmann M; Niethammer K; Behrwind G; Hofbeck M
Klin Padiatr; 2010 Jul; 222(4):261-3. PubMed ID: 20455198
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Functional pulmonary atresia in a patient with neonatal Marfan syndrome caused by a c.3602G>A mutation in exon 29 of the FBN1 gene.
Derbent M; Anuk D; Tarcan A; Varan B; Gurakan B; Tokel K
Clin Dysmorphol; 2008 Apr; 17(2):127-128. PubMed ID: 18388785
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome.
Wang M; Kishnani P; Decker-Phillips M; Kahler SG; Chen YT; Godfrey M
J Med Genet; 1996 Sep; 33(9):760-3. PubMed ID: 8880577
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. A novel mutation of the fibrillin-1 gene in a newborn with severe Marfan syndrome.
Kochilas L; Gundogan F; Atalay M; Bliss JM; Vatta M; Pena LS; Abuelo D
J Perinatol; 2008 Apr; 28(4):303-5. PubMed ID: 18379569
[TBL] [Abstract][Full Text] [Related]
11. Successful Mitral Valve Replacement in an Infant with Neonatal Marfan Syndrome due to a Novel Missense Mutation of the FBN1 Gene.
Motonaga T; Ohnishi Y; Okada S; Suzuki Y; Furuta T; Kawamura M; Okayama N; Suehiro Y; Hasegawa S
Int Heart J; 2022 Jul; 63(4):777-781. PubMed ID: 35831148
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Splicing mutation in the fibrillin-1 gene associated with neonatal Marfan syndrome and severe pulmonary emphysema with tracheobronchomalacia.
Shinawi M; Boileau C; Brik R; Mandel H; Bentur L
Pediatr Pulmonol; 2005 Apr; 39(4):374-8. PubMed ID: 15666366
[TBL] [Abstract][Full Text] [Related]
15. Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome.
Sípek A; Grodecká L; Baxová A; Cibulková P; Dvořáková M; Mazurová S; Magner M; Zeman J; Honzík T; Freiberger T
Am J Med Genet A; 2014 Jun; 164A(6):1559-64. PubMed ID: 24668922
[TBL] [Abstract][Full Text] [Related]
16. An unclassified viariant in the fibrillin-1 gene leading to exon skipping in a patient with Marfan syndrome: the use of minigene assay in splicing analysis.
Xiao Y; Yang KQ; Zhou XL; Shen YQ; Lu CX; Zhang X
Clin Chim Acta; 2015 Mar; 442():84-6. PubMed ID: 25636182
[No Abstract] [Full Text] [Related]
17. 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]
18. Association between fibrillin-1 gene exon 15 and 27 polymorphisms and risk of mitral valve prolapse.
Chou HT; Shi YR; Hsu Y; Tsai FJ
J Heart Valve Dis; 2003 Jul; 12(4):475-81. PubMed ID: 12918850
[TBL] [Abstract][Full Text] [Related]
19. Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.
Hayward C; Brock DJ
Hum Mutat; 1997; 10(6):415-23. PubMed ID: 9401003
[TBL] [Abstract][Full Text] [Related]
20. Prenatal Marfan syndrome: report of one case and review of the literature.
Lopes KR; Delezoide AL; Baumann C; Vuillard E; Luton D; Chitrit Y; Azancot A
Prenat Diagn; 2006 Aug; 26(8):696-9. PubMed ID: 16752434
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
