Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 43

PubMed (Bookshelf cited) for MedGen (Select 44287)

1.

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.

Lindsay ME, Schepers D, Bolar NA, Doyle JJ, Gallo E, Fert-Bober J, Kempers MJ, Fishman EK, Chen Y, Myers L, Bjeda D, Oswald G, Elias AF, Levy HP, Anderlid BM, Yang MH, Bongers EM, Timmermans J, Braverman AC, Canham N, Mortier GR, Brunner HG, Byers PH, Van Eyk J, Van Laer L, Dietz HC, Loeys BL.

Nat Genet. 2012 Jul 8;44(8):922-7. doi: 10.1038/ng.2349.

2.

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L, Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, Genevieve D, Kiper PÖ, Kitoh H, Krakow D, Lynch SA, Le Merrer M, Mégarbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A, Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P, Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V.

Am J Hum Genet. 2011 Jul 15;89(1):7-14. doi: 10.1016/j.ajhg.2011.05.012. Epub 2011 Jun 16.

3.

Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes.

Baetens M, Van Laer L, De Leeneer K, Hellemans J, De Schrijver J, Van De Voorde H, Renard M, Dietz H, Lacro RV, Menten B, Van Criekinge W, De Backer J, De Paepe A, Loeys B, Coucke PJ.

Hum Mutat. 2011 Sep;32(9):1053-62. doi: 10.1002/humu.21525. Epub 2011 Jul 20.

PMID:
21542060
4.

Angiotensin II type 2 receptor signaling attenuates aortic aneurysm in mice through ERK antagonism.

Habashi JP, Doyle JJ, Holm TM, Aziz H, Schoenhoff F, Bedja D, Chen Y, Modiri AN, Judge DP, Dietz HC.

Science. 2011 Apr 15;332(6027):361-5. doi: 10.1126/science.1192152.

5.

Noncanonical TGFβ signaling contributes to aortic aneurysm progression in Marfan syndrome mice.

Holm TM, Habashi JP, Doyle JJ, Bedja D, Chen Y, van Erp C, Lindsay ME, Kim D, Schoenhoff F, Cohn RD, Loeys BL, Thomas CJ, Patnaik S, Marugan JJ, Judge DP, Dietz HC.

Science. 2011 Apr 15;332(6027):358-61. doi: 10.1126/science.1192149.

6.

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.

van de Laar IM, Oldenburg RA, Pals G, Roos-Hesselink JW, de Graaf BM, Verhagen JM, Hoedemaekers YM, Willemsen R, Severijnen LA, Venselaar H, Vriend G, Pattynama PM, Collée M, Majoor-Krakauer D, Poldermans D, Frohn-Mulder IM, Micha D, Timmermans J, Hilhorst-Hofstee Y, Bierma-Zeinstra SM, Willems PJ, Kros JM, Oei EH, Oostra BA, Wessels MW, Bertoli-Avella AM.

Nat Genet. 2011 Feb;43(2):121-6. doi: 10.1038/ng.744. Epub 2011 Jan 9.

PMID:
21217753
7.

The revised Ghent nosology for the Marfan syndrome.

Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM.

J Med Genet. 2010 Jul;47(7):476-85. doi: 10.1136/jmg.2009.072785.

PMID:
20591885
8.

Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.

Loeys BL, Gerber EE, Riegert-Johnson D, Iqbal S, Whiteman P, McConnell V, Chillakuri CR, Macaya D, Coucke PJ, De Paepe A, Judge DP, Wigley F, Davis EC, Mardon HJ, Handford P, Keene DR, Sakai LY, Dietz HC.

Sci Transl Med. 2010 Mar 17;2(23):23ra20. doi: 10.1126/scitranslmed.3000488.

9.

Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1].

Arslan-Kirchner M, Arbustini E, Boileau C, Child A, Collod-Beroud G, De Paepe A, Epplen J, Jondeau G, Loeys B, Faivre L.

Eur J Hum Genet. 2010 Sep;18(9). doi: 10.1038/ejhg.2010.42. Epub 2010 Apr 7. No abstract available.

10.

A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.

Ahram D, Sato TS, Kohilan A, Tayeh M, Chen S, Leal S, Al-Salem M, El-Shanti H.

Am J Hum Genet. 2009 Feb;84(2):274-8. doi: 10.1016/j.ajhg.2009.01.007. Epub 2009 Feb 5.

11.

Rationale and design of the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC).

Eagle KA; GenTAC Consortium.

Am Heart J. 2009 Feb;157(2):319-26. doi: 10.1016/j.ahj.2008.10.005. Epub 2008 Dec 17.

12.

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.

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.

Hum Mutat. 2008 Nov;29(11):E284-95. doi: 10.1002/humu.20871.

PMID:
18781618
13.

Angiotensin II blockade and aortic-root dilation in Marfan's syndrome.

Brooke BS, Habashi JP, Judge DP, Patel N, Loeys B, Dietz HC 3rd.

N Engl J Med. 2008 Jun 26;358(26):2787-95. doi: 10.1056/NEJMoa0706585.

14.

Rationale and design of a randomized clinical trial of beta-blocker therapy (atenolol) versus angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndrome.

Lacro RV, Dietz HC, Wruck LM, Bradley TJ, Colan SD, Devereux RB, Klein GL, Li JS, Minich LL, Paridon SM, Pearson GD, Printz BF, Pyeritz RE, Radojewski E, Roman MJ, Saul JP, Stylianou MP, Mahony L; Pediatric Heart Network Investigators.

Am Heart J. 2007 Oct;154(4):624-31.

15.

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.

Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Muti C, Plauchu H, Robinson PN, Adès LC, Biggin A, Benetts B, Brett M, Holman KJ, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C.

Am J Hum Genet. 2007 Sep;81(3):454-66. Epub 2007 Jul 25.

16.

Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome.

Mátyás G, Alonso S, Patrignani A, Marti M, Arnold E, Magyar I, Henggeler C, Carrel T, Steinmann B, Berger W.

Hum Genet. 2007 Aug;122(1):23-32. Epub 2007 May 10.

PMID:
17492313
17.

Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states.

Cohn RD, van Erp C, Habashi JP, Soleimani AA, Klein EC, Lisi MT, Gamradt M, ap Rhys CM, Holm TM, Loeys BL, Ramirez F, Judge DP, Ward CW, Dietz HC.

Nat Med. 2007 Feb;13(2):204-10. Epub 2007 Jan 21. Erratum in: Nat Med. 2007 Apr;13(4):511.

18.

Aneurysm syndromes caused by mutations in the TGF-beta receptor.

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.

N Engl J Med. 2006 Aug 24;355(8):788-98.

19.

Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome.

Habashi JP, Judge DP, Holm TM, Cohn RD, Loeys BL, Cooper TK, Myers L, Klein EC, Liu G, Calvi C, Podowski M, Neptune ER, Halushka MK, Bedja D, Gabrielson K, Rifkin DB, Carta L, Ramirez F, Huso DL, Dietz HC.

Science. 2006 Apr 7;312(5770):117-21.

20.

Molecular pathology of Shprintzen-Goldberg syndrome.

Kosaki K, Takahashi D, Udaka T, Kosaki R, Matsumoto M, Ibe S, Isobe T, Tanaka Y, Takahashi T.

Am J Med Genet A. 2006 Jan 1;140(1):104-8; author reply 109-10. No abstract available.

PMID:
16333834
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk