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Results: 1 to 20 of 208

1.

Differential effects of alendronate and losartan therapy on osteopenia and aortic aneurysm in mice with severe Marfan syndrome.

Nistala H, Lee-Arteaga S, Carta L, Cook JR, Smaldone S, Siciliano G, Rifkin AN, Dietz HC, Rifkin DB, Ramirez F.

Hum Mol Genet. 2014 Sep 19. pii: ddu452. [Epub ahead of print] No abstract available.

PMID:
25239860
[PubMed - as supplied by publisher]
2.

The Genetic Basis of Aortic Aneurysm.

Lindsay ME, Dietz HC.

Cold Spring Harb Perspect Med. 2014 Sep 2;4(9). pii: a015909. doi: 10.1101/cshperspect.a015909. Review.

PMID:
25183854
[PubMed - as supplied by publisher]
3.

Response to Pyeritz et al.

MacCarrick G, Loeys B, Dietz HC 3rd.

Genet Med. 2014 Aug;16(8):642-4. doi: 10.1038/gim.2014.59. No abstract available.

PMID:
25093569
[PubMed - in process]
4.

CT angiographic evaluation of genetic vascular disease: role in detection, staging, and management of complex vascular pathologic conditions.

Chu LC, Johnson PT, Dietz HC, Fishman EK.

AJR Am J Roentgenol. 2014 May;202(5):1120-9. doi: 10.2214/AJR.13.11485. Review.

PMID:
24758669
[PubMed - indexed for MEDLINE]
5.

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.

Schepers D, Doyle AJ, Oswald G, Sparks E, Myers L, Willems PJ, Mansour S, Simpson MA, Frysira H, Maat-Kievit A, Van Minkelen R, Hoogeboom JM, Mortier GR, Titheradge H, Brueton L, Starr L, Stark Z, Ockeloen C, Lourenco CM, Blair E, Hobson E, Hurst J, Maystadt I, Destrée A, Girisha KM, Miller M, Dietz HC, Loeys B, Van Laer L.

Eur J Hum Genet. 2014 Apr 16. doi: 10.1038/ejhg.2014.61. [Epub ahead of print]

PMID:
24736733
[PubMed - as supplied by publisher]
6.

Clinical and biochemical profiles suggest fibromuscular dysplasia is a systemic disease with altered TGF-β expression and connective tissue features.

Ganesh SK, Morissette R, Xu Z, Schoenhoff F, Griswold BF, Yang J, Tong L, Yang ML, Hunker K, Sloper L, Kuo S, Raza R, Milewicz DM, Francomano CA, Dietz HC, Van Eyk J, McDonnell NB.

FASEB J. 2014 Aug;28(8):3313-24. doi: 10.1096/fj.14-251207. Epub 2014 Apr 14.

PMID:
24732132
[PubMed - in process]
7.

Early and 1-year outcomes of aortic root surgery in patients with Marfan syndrome: a prospective, multicenter, comparative study.

Coselli JS, Volguina IV, LeMaire SA, Sundt TM, Connolly HM, Stephens EH, Schaff HV, Milewicz DM, Vricella LA, Dietz HC, Minard CG, Miller DC; Aortic Valve Operative Outcomes in Marfan Patients Study Group.

J Thorac Cardiovasc Surg. 2014 Jun;147(6):1758-66, 1767.e1-4. doi: 10.1016/j.jtcvs.2014.02.021. Epub 2014 Feb 8.

PMID:
24655904
[PubMed - indexed for MEDLINE]
8.

Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy.

Bai S, Lozada A, Jones MC, Dietz HC, Dempsey M, Das S.

Case Rep Genet. 2014;2014:508231. doi: 10.1155/2014/508231. Epub 2014 Feb 3.

PMID:
24639906
[PubMed]
Free PMC Article
9.

Loeys-Dietz syndrome: a primer for diagnosis and management.

MacCarrick G, Black JH 3rd, Bowdin S, El-Hamamsy I, Frischmeyer-Guerrerio PA, Guerrerio AL, Sponseller PD, Loeys B, Dietz HC 3rd.

Genet Med. 2014 Aug;16(8):576-87. doi: 10.1038/gim.2014.11. Epub 2014 Feb 27.

PMID:
24577266
[PubMed - in process]
Free PMC Article
10.

Abnormal muscle mechanosignaling triggers cardiomyopathy in mice with Marfan syndrome.

Cook JR, Carta L, Bénard L, Chemaly ER, Chiu E, Rao SK, Hampton TG, Yurchenco P; GenTAC Registry Consortium, Costa KD, Hajjar RJ, Ramirez F.

J Clin Invest. 2014 Mar 3;124(3):1329-39. doi: 10.1172/JCI71059. Epub 2014 Feb 17.

PMID:
24531548
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Tgfbr2 disruption in postnatal smooth muscle impairs aortic wall homeostasis.

Li W, Li Q, Jiao Y, Qin L, Ali R, Zhou J, Ferruzzi J, Kim RW, Geirsson A, Dietz HC, Offermanns S, Humphrey JD, Tellides G.

J Clin Invest. 2014 Feb 3;124(2):755-67. doi: 10.1172/JCI69942. Epub 2014 Jan 9.

PMID:
24401272
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Angiotensin II-dependent TGF-β signaling contributes to Loeys-Dietz syndrome vascular pathogenesis.

Gallo EM, Loch DC, Habashi JP, Calderon JF, Chen Y, Bedja D, van Erp C, Gerber EE, Parker SJ, Sauls K, Judge DP, Cooke SK, Lindsay ME, Rouf R, Myers L, ap Rhys CM, Kent KC, Norris RA, Huso DL, Dietz HC.

J Clin Invest. 2014 Jan 2;124(1):448-60. doi: 10.1172/JCI69666. Epub 2013 Dec 20.

PMID:
24355923
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Mitral valve disease in patients with Marfan syndrome undergoing aortic root replacement.

Kunkala MR, Schaff HV, Li Z, Volguina I, Dietz HC, Lemaire SA, Coselli JS, Connolly H.

Circulation. 2013 Sep 10;128(11 Suppl 1):S243-7. doi: 10.1161/CIRCULATIONAHA.112.000113. Erratum in: Circulation. 2014 Mar 11;129(10):e390.

PMID:
24030414
[PubMed - indexed for MEDLINE]
Free Article
14.

Integrin-modulating therapy prevents fibrosis and autoimmunity in mouse models of scleroderma.

Gerber EE, Gallo EM, Fontana SC, Davis EC, Wigley FM, Huso DL, Dietz HC.

Nature. 2013 Nov 7;503(7474):126-30. doi: 10.1038/nature12614. Epub 2013 Oct 9.

PMID:
24107997
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

A Pkd1-Fbn1 genetic interaction implicates TGF-β signaling in the pathogenesis of vascular complications in autosomal dominant polycystic kidney disease.

Liu D, Wang CJ, Judge DP, Halushka MK, Ni J, Habashi JP, Moslehi J, Bedja D, Gabrielson KL, Xu H, Qian F, Huso D, Dietz HC, Germino GG, Watnick T.

J Am Soc Nephrol. 2014 Jan;25(1):81-91. doi: 10.1681/ASN.2012050486. Epub 2013 Sep 26.

PMID:
24071006
[PubMed - indexed for MEDLINE]
16.

Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections.

Guo DC, Regalado E, Casteel DE, Santos-Cortez RL, Gong L, Kim JJ, Dyack S, Horne SG, Chang G, Jondeau G, Boileau C, Coselli JS, Li Z, Leal SM, Shendure J, Rieder MJ, Bamshad MJ, Nickerson DA; GenTAC Registry Consortium; National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project, Kim C, Milewicz DM.

Am J Hum Genet. 2013 Aug 8;93(2):398-404. doi: 10.1016/j.ajhg.2013.06.019. Epub 2013 Aug 1.

PMID:
23910461
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

TGFβ receptor mutations impose a strong predisposition for human allergic disease.

Frischmeyer-Guerrerio PA, Guerrerio AL, Oswald G, Chichester K, Myers L, Halushka MK, Oliva-Hemker M, Wood RA, Dietz HC.

Sci Transl Med. 2013 Jul 24;5(195):195ra94. doi: 10.1126/scitranslmed.3006448.

PMID:
23884466
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Bone lessons from Marfan syndrome and related disorders: fibrillin, TGF-B and BMP at the balance of too long and too short.

Loeys BL, Mortier G, Dietz HC.

Pediatr Endocrinol Rev. 2013 Jun;10 Suppl 2:417-23. Review.

PMID:
23858625
[PubMed - indexed for MEDLINE]
19.

Increased fracture risk and low bone mineral density in patients with loeys-dietz syndrome.

Tan EW, Offoha RU, Oswald GL, Skolasky RL, Dewan AK, Zhen G, Shapiro JR, Dietz HC, Cao X, Sponseller PD.

Am J Med Genet A. 2013 Aug;161A(8):1910-4. doi: 10.1002/ajmg.a.36029. Epub 2013 Jul 4.

PMID:
23825031
[PubMed - indexed for MEDLINE]
20.

Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome.

Prakash S, Guo D, Maslen CL, Silberbach M, Milewicz D, Bondy CA; GenTAC Investigators.

Genet Med. 2014 Jan;16(1):53-9. doi: 10.1038/gim.2013.77. Epub 2013 Jun 6. Erratum in: Genet Med. 2014 Jan;16(1):117.

PMID:
23743550
[PubMed - indexed for MEDLINE]
Free PMC Article

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