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Items: 1 to 20 of 95

1.

Recent developments in the diagnosis of Marfan syndrome and related disorders.

Summers KM, West JA, Hattam A, Stark D, McGill JJ, West MJ.

Med J Aust. 2012 Nov 5;197(9):494-7.

PMID:
23121584
2.

Challenges in the diagnosis of Marfan syndrome.

Summers KM, West JA, Peterson MM, Stark D, McGill JJ, West MJ.

Med J Aust. 2006 Jun 19;184(12):627-31. Review.

PMID:
16803443
3.

Cardiovascular characteristics in Marfan syndrome and their relation to the genotype.

De Backer J.

Verh K Acad Geneeskd Belg. 2009;71(6):335-71. Review.

PMID:
20232788
4.

Marfan syndrome or Marfan-like connective-tissue disorder.

Gilchrist DM.

Am J Hum Genet. 1994 Mar;54(3):553-4. No abstract available.

5.

[Clinical aspects of Marfan syndrome].

Belsing TZ, Lund AM, Søndergaard L, Friis-Hansen L, Abildstrøm SZ.

Ugeskr Laeger. 2011 Jan 31;173(5):337-42. Review. Danish.

PMID:
21276396
6.

Recent molecular biological progress in Marfan syndrome and Marfan-associated disorders.

Gao LG, Luo F, Hui RT, Zhou XL.

Ageing Res Rev. 2010 Jul;9(3):363-8. doi: 10.1016/j.arr.2009.09.001. Epub 2009 Sep 17. Review.

PMID:
19772952
7.

Haplotype analysis enables the diagnosis of Marfan syndrome.

Basel D, Kilpatrick MW, Tsipouras P.

Conn Med. 2004 Jun-Jul;68(6):363-6.

PMID:
15266886
8.

[Skeletal and occlusal alterations in the diagnosis of Marfan syndrome].

Incisivo V, Silvestri A.

Minerva Stomatol. 2003 Oct;52(10):457-69. Italian.

PMID:
14765031
9.

Pathophysiology and Japanese clinical characteristics in Marfan syndrome.

Fujita D, Takeda N, Imai Y, Inuzuka R, Komuro I, Hirata Y.

Pediatr Int. 2014 Aug;56(4):484-91. doi: 10.1111/ped.12423. Review.

PMID:
24931486
10.

Ehlers-Danlos syndromes and Marfan syndrome.

Callewaert B, Malfait F, Loeys B, De Paepe A.

Best Pract Res Clin Rheumatol. 2008 Mar;22(1):165-89. doi: 10.1016/j.berh.2007.12.005. Review.

PMID:
18328988
11.

TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.

Singh KK, Rommel K, Mishra A, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M.

Hum Mutat. 2006 Aug;27(8):770-7.

PMID:
16799921
12.

[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
13.

Diagnosis and management of Marfan syndrome.

Iams HD.

Curr Sports Med Rep. 2010 Mar-Apr;9(2):93-8. doi: 10.1249/JSR.0b013e3181d4066c.

PMID:
20220350
14.

Hereditary disorders of connective tissue: a guide to the emerging differential diagnosis.

Murphy-Ryan M, Psychogios A, Lindor NM.

Genet Med. 2010 Jun;12(6):344-54. doi: 10.1097/GIM.0b013e3181e074f0.

PMID:
20467323
15.

Elucidation of the gene defect in Marfan syndrome. Success by two complementary research strategies.

Peltonen L, Kainulainen K.

FEBS Lett. 1992 Jul 27;307(1):116-21. Review.

16.

Co-occurrence of autosomal dominant polycystic kidney disease and Marfan syndrome in a kindred.

Hateboer N, Buchalter M, Davies SJ, Lazarou LP, Ravine D.

Am J Kidney Dis. 2000 Apr;35(4):753-60.

PMID:
10739800
17.

Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene.

Ogawa N, Imai Y, Takahashi Y, Nawata K, Hara K, Nishimura H, Kato M, Takeda N, Kohro T, Morita H, Taketani T, Morota T, Yamazaki T, Goto J, Tsuji S, Takamoto S, Nagai R, Hirata Y.

Am J Cardiol. 2011 Dec 15;108(12):1801-7. doi: 10.1016/j.amjcard.2011.07.053. Epub 2011 Sep 10.

PMID:
21907952
18.

[Multidisciplinary practice guideline 'Marfan syndrome'].

Hilhorst-Hofstee Y.

Ned Tijdschr Geneeskd. 2013;157(50):A6658. Review. Dutch.

PMID:
24326138
19.

Revised diagnostic criteria for the Marfan syndrome.

De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE.

Am J Med Genet. 1996 Apr 24;62(4):417-26.

PMID:
8723076
20.

Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome.

Sheikhzadeh S, Kade C, Keyser B, Stuhrmann M, Arslan-Kirchner M, Rybczynski M, Bernhardt AM, Habermann CR, Hillebrand M, Mir T, Robinson PN, Berger J, Detter C, Blankenberg S, Schmidtke J, von Kodolitsch Y.

Clin Genet. 2012 Sep;82(3):240-7. doi: 10.1111/j.1399-0004.2011.01771.x. Epub 2011 Oct 5.

PMID:
21883168

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