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Items: 1 to 20 of 115

1.

Marfan syndrome.

Shirley ED, Sponseller PD.

J Am Acad Orthop Surg. 2009 Sep;17(9):572-81. Review.

PMID:
19726741
2.

Marfan syndrome: orthopedic and genetic review.

Giampietro PF, Raggio C, Davis JG.

Curr Opin Pediatr. 2002 Feb;14(1):35-41. Review. Erratum in: Curr Opin Pediatr 2002 Apr;14(2):286.

PMID:
11880731
3.

Protrusio acetabuli in Marfan syndrome. History, diagnosis, and treatment.

Van de Velde S, Fillman R, Yandow S.

J Bone Joint Surg Am. 2006 Mar;88(3):639-46. Review.

PMID:
16510833
4.

Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations.

Söylen B, Singh KK, Abuzainin A, Rommel K, Becker H, Arslan-Kirchner M, Schmidtke J.

Clin Genet. 2009 Mar;75(3):265-70. doi: 10.1111/j.1399-0004.2008.01126.x. Epub 2009 Jan 20.

PMID:
19159394
5.

Fibrillin 1 gene with R2726W mutation is absent in patients with primary protrusio acetabuli and developmental dysplasia of the hip.

Ghosh S, Fryer AA, Hoban PR, Wynn-Jones C, Maffulli N.

Med Sci Monit. 2009 May;15(5):CR199-202.

PMID:
19396033
7.

[The research progress in Marfan syndrome].

Zhu SH, Liu L.

Fa Yi Xue Za Zhi. 2005 Feb;21(1):58-60. Review. Chinese.

PMID:
15895810
8.

Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.

Hayward C, Brock DJ.

Hum Mutat. 1997;10(6):415-23. Review.

PMID:
9401003
9.

Severe Marfan syndrome due to FBN1 exon deletions.

Blyth M, Foulds N, Turner C, Bunyan D.

Am J Med Genet A. 2008 May 15;146A(10):1320-4. doi: 10.1002/ajmg.a.32229.

PMID:
18412115
10.

Marfan syndrome: clinical diagnosis and management.

Dean JC.

Eur J Hum Genet. 2007 Jul;15(7):724-33. Epub 2007 May 9. Review.

11.

Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.

Loeys B, Nuytinck L, Delvaux I, De Bie S, De Paepe A.

Arch Intern Med. 2001 Nov 12;161(20):2447-54.

PMID:
11700157
12.

Marfan syndrome: genetic basis and clinical manifestations.

Tsipouras P, Devereux RB.

Semin Dermatol. 1993 Sep;12(3):219-28. Review.

PMID:
8217560
13.

The molecular genetics of Marfan syndrome and related microfibrillopathies.

Robinson PN, Godfrey M.

J Med Genet. 2000 Jan;37(1):9-25. Review.

14.

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. doi: 10.1111/j.1747-0803.2006.00040.x.

PMID:
18377530
15.

Mutation analysis of the FBN1 gene in patients with Marfan syndrome.

Coucke P, Van Acker P, De Paepe A.

Methods Mol Med. 2006;126:81-95.

PMID:
16930007
16.

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. doi: 10.1038/sj.jp.7211915.

PMID:
18379569
17.

Protrusio acetabuli in Marfan syndrome: age-related prevalence and associated hip function.

Sponseller PD, Jones KB, Ahn NU, Erkula G, Foran JR, Dietz HC 3rd.

J Bone Joint Surg Am. 2006 Mar;88(3):486-95.

PMID:
16510812
18.

Protrusio acetabuli and bilateral basicervical femoral neck fractures in a patient with Marfan syndrome.

Kharrazi FD, Rodgers WB, Coran DL, Kasser JR, Hall JE.

Am J Orthop (Belle Mead NJ). 1997 Oct;26(10):689-91.

PMID:
9349891
19.

The molecular basis of Marfan syndrome.

Maslen CL, Glanville RW.

DNA Cell Biol. 1993 Sep;12(7):561-72. Review.

PMID:
8397814
20.

Marfan syndrome and fibrillin disorders.

Le Parc JM, Molcard S, Tubach F, Boileau C, Jondeau G, Muti C, Chevallier B, Pisella PJ.

Joint Bone Spine. 2000;67(5):401-7. Review.

PMID:
11143906

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