300 related articles for article (PubMed ID: 15287423)
1. 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]
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. 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]
4. Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency.
Buntinx IM; Willems PJ; Spitaels SE; Van Reempst PJ; De Paepe AM; Dumon JE
J Med Genet; 1991 Apr; 28(4):267-73. PubMed ID: 1856834
[TBL] [Abstract][Full Text] [Related]
5. Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene.
Tekin M; Cengiz FB; Ayberkin E; Kendirli T; Fitoz S; Tutar E; Ciftçi E; Conba A
Am J Med Genet A; 2007 Apr; 143A(8):875-80. PubMed ID: 17366579
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. 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]
10. A recurring FBN1 gene mutation in neonatal Marfan syndrome.
Jacobs AM; Toudjarska I; Racine A; Tsipouras P; Kilpatrick MW; Shanske A
Arch Pediatr Adolesc Med; 2002 Nov; 156(11):1081-5. PubMed ID: 12413333
[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. 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]
13. 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]
14. 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]
15. The molecular genetics of Marfan syndrome and related microfibrillopathies.
Robinson PN; Godfrey M
J Med Genet; 2000 Jan; 37(1):9-25. PubMed ID: 10633129
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Clinical, pathological and molecular genetic findings in a case of neonatal Marfan syndrome.
Bresters D; Nikkels PG; Meijboom EJ; Hoorntje TM; Pals G; Beemer FA
Acta Paediatr; 1999 Jan; 88(1):98-101. PubMed ID: 10090557
[TBL] [Abstract][Full Text] [Related]
18. Congenital contractural arachnodactyly (Beals syndrome).
Viljoen D
J Med Genet; 1994 Aug; 31(8):640-3. PubMed ID: 7815423
[TBL] [Abstract][Full Text] [Related]
19. Clinical and genetic associations in Marfan syndrome and related disorders.
Ramirez F; Lee B; Vitale E
Mt Sinai J Med; 1992 Sep; 59(4):350-6. PubMed ID: 1406753
[TBL] [Abstract][Full Text] [Related]
20. Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations.
Faivre L; Masurel-Paulet A; Collod-Béroud G; Callewaert BL; Child AH; Stheneur C; Binquet C; Gautier E; Chevallier B; Huet F; Loeys BL; Arbustini E; Mayer K; Arslan-Kirchner M; Kiotsekoglou A; Comeglio P; Grasso M; Halliday DJ; Béroud C; Bonithon-Kopp C; Claustres M; Robinson PN; Adès L; De Backer J; Coucke P; Francke U; De Paepe A; Boileau C; Jondeau G
Pediatrics; 2009 Jan; 123(1):391-8. PubMed ID: 19117906
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
