171 related articles for article (PubMed ID: 10090557)
1. 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]
2. 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]
3. 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]
4. Ascending aortic aneurysm with or without features of Marfan syndrome and other fibrillinopathies: new insights.
Furthmayr H; Francke U
Semin Thorac Cardiovasc Surg; 1997 Jul; 9(3):191-205. PubMed ID: 9263339
[TBL] [Abstract][Full Text] [Related]
5. Marfan syndrome type II: there is more to Marfan syndrome than fibrillin 1.
Zangwill SD; Brown MD; Bryke CR; Cava JR; Segura AD
Congenit Heart Dis; 2006 Sep; 1(5):229-32. PubMed ID: 18377530
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. Genetic fibrillinopathies: new insights in molecular diagnosis and clinical management.
Loeys BL; Matthys DM; de Paepe AM
Acta Clin Belg; 2003; 58(1):3-11. PubMed ID: 12723256
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Neonatal Marfan syndrome: a successful early multidisciplinary approach.
Amado M; Calado MA; Ferreira R; Lourenço T
BMJ Case Rep; 2014 Jun; 2014():. PubMed ID: 24928929
[TBL] [Abstract][Full Text] [Related]
16. Central nervous system abnormalities in two cases with neonatal Marfan syndrome with novel mutations in the fibrillin-1 gene.
Barnett CP; Wilson GJ; Chiasson DA; Gross GJ; Hinek A; Hawkins C; Chitayat D
Am J Med Genet A; 2010 Sep; 152A(9):2409-12. PubMed ID: 20803651
[No Abstract] [Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. Two novel fibrillin-2 mutations in congenital contractural arachnodactyly.
Belleh S; Zhou G; Wang M; Der Kaloustian VM; Pagon RA; Godfrey M
Am J Med Genet; 2000 May; 92(1):7-12. PubMed ID: 10797416
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]