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6. Primary trabeculodysgenesis in association with neonatal Marfan syndrome. Whitelaw CM; Anwar S; Adès LC; Gole GA; Elder JE; Savarirayan R Am J Med Genet A; 2004 Aug; 128A(4):418-21. PubMed ID: 15264290 [TBL] [Abstract][Full Text] [Related]
7. Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation. Collod-Béroud G; Lackmy-Port-Lys M; Jondeau G; Mathieu M; Maingourd Y; Coulon M; Guillotel M; Junien C; Boileau C Am J Hum Genet; 1999 Sep; 65(3):917-21. PubMed ID: 10441597 [No 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. 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]
10. Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype. Hogue J; Lee C; Jelin A; Strecker MN; Cox VA; Slavotinek AM Clin Genet; 2013 Oct; 84(4):392-3. PubMed ID: 23278365 [No Abstract] [Full Text] [Related]
12. 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]
16. Study of phenotype evolution during childhood in Marfan syndrome to improve clinical recognition. Stheneur C; Tubach F; Jouneaux M; Roy C; Benoist G; Chevallier B; Boileau C; Jondeau G Genet Med; 2014 Mar; 16(3):246-50. PubMed ID: 24008997 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. The defect in Marfan syndrome. McKusick VA Nature; 1991 Jul; 352(6333):279-81. PubMed ID: 1852198 [No Abstract] [Full Text] [Related]
19. [The research progress in Marfan syndrome]. Zhu SH; Liu L Fa Yi Xue Za Zhi; 2005 Feb; 21(1):58-60. PubMed ID: 15895810 [TBL] [Abstract][Full Text] [Related]
20. Three novel fibrillin mutations in exons 25 and 27: classic versus neonatal Marfan syndrome. Wang M; Wang JY; Cisler J; Imaizumi K; Burton BK; Jones MC; Lamberti JJ; Godfrey M Hum Mutat; 1997; 9(4):359-62. PubMed ID: 9101298 [No Abstract] [Full Text] [Related] [Next] [New Search]