| 1 | FBN1, LDS1A, LDS2B, MFS1, TGFBR1, TGFBR2
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| 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.
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| Söylen B, Singh KK, Abuzainin A, Rommel K, Becker H, Arslan-Kirchner M, Schmidtke J.
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| Clin Genet 75(3):265-70. Epub 2009 Jan 20. 2009
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| 2 | FBN1, LDS1A, LDS2B, MFS1, MFS2, TGFBR1, TGFBR2
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| Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.
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| Chung BH, Lam ST, Tong TM, Li SY, Lun KS, Chan DH, Fok SF, Or JS, Smith DK, Yang W, Lau YL.
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| Am J Med Genet A 149A(7):1452-9. 2009
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| 3 | LDS1A, LDS2B, TGFBR1, TGFBR2
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| Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.
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| Stheneur C, Collod-Béroud G, Faivre L, Gouya L, Sultan G, Le Parc JM, Moura B, Attias D, Muti C, Sznajder M, Claustres M, Junien C, Baumann C, Cormier-Daire V, Rio M, Lyonnet S, Plauchu H, Lacombe D, Chevallier B, Jondeau G, Boileau C.
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| Hum Mutat 29(11):E284-95. 2008
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| 4 | LDS1A, LDS2B, TGFBR1, TGFBR2
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| Aneurysm syndromes caused by mutations in the TGF-beta receptor.
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| Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC.
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| N Engl J Med 355(8):788-98. 2006
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| 5 | LDS1A, LDS2B, NIPBL, TGFBR1, TGFBR2
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| Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene.
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| Borck G, Zarhrate M, Cluzeau C, Bal E, Bonnefont JP, Munnich A, Cormier-Daire V, Colleaux L.
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| Hum Mutat 27(8):731-5. 2006
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| 6 | LDS1A, LDS2B, TGFBR1, TGFBR2
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| TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.
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| Singh KK, Rommel K, Mishra A, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M.
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| Hum Mutat 27(8):770-7. 2006
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| 7 | LDS1A, LDS2B, MFS2, TGFBR1, TGFBR2
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| A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
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| Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, Meyers J, Leitch CC, Katsanis N, Sharifi N, Xu FL, Myers LA, Spevak PJ, Cameron DE, De Backer J, Hellemans J, Chen Y, Davis EC, Webb CL, Kress W, Coucke P, Rifkin DB, De Paepe AM, Dietz HC.
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| Nat Genet 37(3):275-81. Epub 2005 Jan 30. 2005
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| 8 | LDS1A, LDS2B, TGFBR1, TGFBR2
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| A new Marfan-like syndrome caused by perturbed transforming growth factor-beta signaling.
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| Gibson W.
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| Clin Genet 68(4):330-1. No abstract available. 2005
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| 9 | LDS2B, TGFBR2
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| Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome.
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| Ki CS, Jin DK, Chang SH, Kim JE, Kim JW, Park BK, Choi JH, Park IS, Yoo HW.
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| Clin Genet 68(6):561-3. No abstract available. 2005
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