| Year |
Citation |
Score |
| 2024 |
Bramel E, Camejo WE, Creamer T, Restrepo L, Saqib M, Bagirzadeh R, Zeng A, Mitchell J, Stein-O'Brien G, Pedroza A, Fischbein M, Dietz H, MacFarlane EG. Intrinsic Gata4 expression sensitizes the aortic root to dilation in a Loeys-Dietz syndrome mouse model. Research Square. PMID 38883722 DOI: 10.21203/rs.3.rs-4420617/v1 |
0.338 |
|
| 2021 |
Velchev JD, Van Laer L, Luyckx I, Dietz H, Loeys B. Loeys-Dietz Syndrome. Advances in Experimental Medicine and Biology. 1348: 251-264. PMID 34807423 DOI: 10.1007/978-3-030-80614-9_11 |
0.357 |
|
| 2020 |
Grattan M, Prince A, Ruman R, Morgan C, Petrovic M, Hauck A, Young L, Franco-Cereceda A, Loeys B, Mohamed SA, Dietz H, Mital S, Fan CS, Manlhiot C, Andelfinger G, et al. Predictors of Bicuspid Aortic Valve-Associated Aortopathy in Childhood: A Report From the MIBAVA Consortium. Circulation. Cardiovascular Imaging. 13: e009717. PMID 32178537 DOI: 10.1161/Circimaging.119.009717 |
0.366 |
|
| 2019 |
Li J, Ritelli M, Ma CS, Rao G, Habib T, Corvilain E, Bougarn S, Cypowyj S, Grodecká L, Lévy R, Béziat V, Shang L, Payne K, Avery DT, Migaud M, ... ... Dietz HC, et al. Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β. Science Immunology. 4. PMID 31784499 DOI: 10.1126/Sciimmunol.Aax7965 |
0.331 |
|
| 2019 |
Bowen CJ, Calderón Giadrosic JF, Burger Z, Rykiel G, Davis EC, Helmers MR, Benke K, Gallo MacFarlane E, Dietz HC. Targetable cellular signaling events mediate vascular pathology in vascular Ehlers-Danlos syndrome. The Journal of Clinical Investigation. PMID 31639107 DOI: 10.1172/Jci130730 |
0.398 |
|
| 2019 |
Schoenhoff FS, Alejo DE, Black JH, Crawford TC, Dietz HC, Grimm JC, Magruder JT, Patel ND, Vricella LA, Young A, Carrel TP, Cameron DE. Management of the aortic arch in patients with Loeys-Dietz syndrome. The Journal of Thoracic and Cardiovascular Surgery. PMID 31627951 DOI: 10.1016/J.Jtcvs.2019.07.130 |
0.329 |
|
| 2019 |
Kim DH, Beckett JD, Nagpal V, Seman-Senderos MA, Gould RA, Creamer TJ, MacFarlane EG, Chen Y, Bedja D, Butcher JT, Mitzner W, Rouf R, Hata S, Warren DS, Dietz HC. Calpain 9 as a therapeutic target in TGFβ-induced mesenchymal transition and fibrosis. Science Translational Medicine. 11. PMID 31316008 DOI: 10.1126/Scitranslmed.Aau2814 |
0.337 |
|
| 2019 |
Shin JY, Beckett JD, Bagirzadeh R, Creamer TJ, Shah AA, McMahan Z, Paik JJ, Sampedro MM, MacFarlane EG, Beer MA, Warren D, Wigley FM, Dietz HC. Epigenetic activation and memory at a enhancer in systemic sclerosis. Science Translational Medicine. 11. PMID 31217334 DOI: 10.1126/Scitranslmed.Aaw0790 |
0.304 |
|
| 2019 |
Habashi JP, MacFarlane EG, Bagirzadeh R, Bowen C, Huso N, Chen Y, Bedja D, Creamer TJ, Rykiel G, Manning M, Huso D, Dietz HC. Oxytocin antagonism prevents pregnancy-associated aortic dissection in a mouse model of Marfan syndrome. Science Translational Medicine. 11. PMID 31043570 DOI: 10.1126/Scitranslmed.Aat4822 |
0.349 |
|
| 2019 |
Fraser CD, Liu RH, Zhou X, Patel ND, Lui C, Pierre AS, Jacobs ML, Dietz HC, Habashi J, Hibino N, Cameron DE, Vricella LA. Valve-sparing aortic root replacement in children: Outcomes from 100 consecutive cases. The Journal of Thoracic and Cardiovascular Surgery. 157: 1100-1109. PMID 30982542 DOI: 10.1016/J.Jtcvs.2018.09.148 |
0.324 |
|
| 2019 |
Luyckx I, MacCarrick G, Kempers M, Meester J, Geryl C, Rombouts O, Peeters N, Claes C, Boeckx N, Sakalihasan N, Jacquinet A, Hoischen A, Vandeweyer G, Van Lent S, Saenen J, ... ... Dietz H, et al. Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy. European Journal of Human Genetics : Ejhg. 27: 1044-1053. PMID 30796334 DOI: 10.1038/S41431-019-0363-Z |
0.421 |
|
| 2019 |
MacFarlane EG, Parker SJ, Shin JY, Ziegler SG, Creamer TJ, Bagirzadeh R, Bedja D, Chen Y, Calderon JF, Weissler K, Frischmeyer-Guerrerio PA, Lindsay ME, Habashi JP, Dietz HC. Lineage-specific events underlie aortic root aneurysm pathogenesis in Loeys-Dietz syndrome. The Journal of Clinical Investigation. PMID 30614814 DOI: 10.1172/Jci123547 |
0.446 |
|
| 2018 |
Williams D, Lindley KJ, Russo M, Habashi J, Dietz HC, Braverman AC. Pregnancy after Aortic Root Replacement in Marfan's Syndrome: A Case Series and Review of the Literature. Ajp Reports. 8: e234-e240. PMID 30473905 DOI: 10.1055/S-0038-1675347 |
0.309 |
|
| 2018 |
Gould RA, Aziz H, Woods CE, Seman-Senderos MA, Sparks E, Preuss C, Wünnemann F, Bedja D, Moats CR, McClymont SA, Rose R, Sobreira N, Ling H, MacCarrick G, Kumar AA, ... ... Dietz HC, et al. ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm. Nature Genetics. PMID 30455415 DOI: 10.1038/S41588-018-0265-Y |
0.429 |
|
| 2018 |
Solinski MA, Blair MP, Dietz H, Mittelman D, Shapiro MJ. FEVR findings in patients with Loeys-Dietz syndrome type II. Ophthalmic Genetics. 1-5. PMID 30406707 DOI: 10.1080/13816810.2018.1532526 |
0.358 |
|
| 2018 |
Baban A, Magliozzi M, Loeys B, Adorisio R, Alesi V, Secinaro A, Corica B, Vricella L, Dietz HC, Drago F, Novelli A, Amodeo A. First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report. Bmc Medical Genetics. 19: 170. PMID 30219046 DOI: 10.1186/S12881-018-0661-2 |
0.305 |
|
| 2018 |
Renard M, Francis C, Ghosh R, Scott AF, Witmer PD, Adès LC, Andelfinger GU, Arnaud P, Boileau C, Callewaert BL, Guo D, Hanna N, Lindsay ME, Morisaki H, Morisaki T, ... ... Dietz HC, et al. Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection. Journal of the American College of Cardiology. 72: 605-615. PMID 30071989 DOI: 10.1016/J.Jacc.2018.04.089 |
0.372 |
|
| 2018 |
Parker SJ, Stotland A, MacFarlane E, Wilson N, Orosco A, Venkatraman V, Madrid K, Gottlieb R, Dietz HC, Van Eyk JE. Proteomics reveals Rictor as a noncanonical TGF-β signaling target during aneurysm progression in Marfan mice. American Journal of Physiology. Heart and Circulatory Physiology. 315: H1112-H1126. PMID 30004239 DOI: 10.1152/Ajpheart.00089.2018 |
0.407 |
|
| 2018 |
van der Pluijm I, Burger J, van Heijningen PM, IJpma A, van Vliet N, Milanese C, Schoonderwoerd K, Sluiter W, Ringuette LJ, Dekkers DHW, Que I, Kaijzel EL, Te Riet L, MacFarlane E, Das D, ... ... Dietz H, et al. Decreased mitochondrial respiration in aneurysmal aortas of Fibulin-4 mutant mice is linked to PGC1A regulation. Cardiovascular Research. PMID 29931197 DOI: 10.1093/Cvr/Cvy150 |
0.35 |
|
| 2018 |
Chu LC, Haroun RR, Beaulieu RJ, Black JH, Dietz HC, Fishman EK. Carotid Artery Tortuosity Index Is Associated With the Need for Early Aortic Root Replacement in Patients With Loeys-Dietz Syndrome. Journal of Computer Assisted Tomography. PMID 29901510 DOI: 10.1097/Rct.0000000000000764 |
0.335 |
|
| 2018 |
Schepers D, Tortora G, Morisaki H, MacCarrick G, Lindsay M, Liang D, Mehta SG, Hague J, Verhagen J, van de Laar I, Wessels M, Detisch Y, van Haelst M, Baas A, Lichtenbelt K, ... ... Dietz H, et al. A mutation update on the LDS associated genes TGFB2/3 and SMAD2/3. Human Mutation. PMID 29392890 DOI: 10.1002/Humu.23407 |
0.403 |
|
| 2018 |
Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, ... ... Dietz H, et al. Arterial tortuosity syndrome: 40 new families and literature review. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29323665 DOI: 10.1038/Gim.2017.253 |
0.386 |
|
| 2017 |
Gillis E, Kumar AA, Luyckx I, Preuss C, Cannaerts E, van de Beek G, Wieschendorf B, Alaerts M, Bolar N, Vandeweyer G, Meester J, Wünnemann F, Gould RA, Zhurayev R, Zerbino D, ... ... Dietz HC, et al. Corrigendum: Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor. Frontiers in Physiology. 8: 730. PMID 28974934 DOI: 10.3389/Fphys.2017.00730 |
0.358 |
|
| 2017 |
Rouf R, MacFarlane EG, Takimoto E, Chaudhary R, Nagpal V, Rainer PP, Bindman JG, Gerber EE, Bedja D, Schiefer C, Miller KL, Zhu G, Myers L, Amat-Alarcon N, Lee DI, ... ... Dietz HC, et al. Nonmyocyte ERK1/2 signaling contributes to load-induced cardiomyopathy in Marfan mice. Jci Insight. 2. PMID 28768908 DOI: 10.1172/Jci.Insight.91588 |
0.348 |
|
| 2017 |
Gillis E, Kumar AA, Luyckx I, Preuss C, Cannaerts E, van de Beek G, Wieschendorf B, Alaerts M, Bolar N, Vandeweyer G, Meester J, Wünnemann F, Gould RA, Zhurayev R, Zerbino D, ... ... Dietz HC, et al. Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor. Frontiers in Physiology. 8: 400. PMID 28659821 DOI: 10.3389/Fphys.2017.00400 |
0.431 |
|
| 2017 |
Ziegler SG, Ferreira CR, MacFarlane EG, Riddle RC, Tomlinson RE, Chew EY, Martin L, Ma CT, Sergienko E, Pinkerton AB, Millán JL, Gahl WA, Dietz HC. Ectopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase. Science Translational Medicine. 9. PMID 28592560 DOI: 10.1126/Scitranslmed.Aal1669 |
0.351 |
|
| 2017 |
Roohi J, Kang B, Bernard D, Bedja D, Dietz HC, Brody LC. Moderately Elevated Homocysteine Does Not Contribute to Thoracic Aortic Aneurysm in Mice. The Journal of Nutrition. PMID 28539414 DOI: 10.3945/Jn.117.251173 |
0.368 |
|
| 2017 |
Patel ND, Alejo D, Crawford T, Hibino N, Dietz HC, Cameron DE, Vricella LA. Aortic Root Replacement for Children With Loeys-Dietz Syndrome. The Annals of Thoracic Surgery. PMID 28366467 DOI: 10.1016/J.Athoracsur.2017.01.053 |
0.358 |
|
| 2017 |
MacFarlane EG, Haupt J, Dietz HC, Shore EM. TGF-β Family Signaling in Connective Tissue and Skeletal Diseases. Cold Spring Harbor Perspectives in Biology. PMID 28246187 DOI: 10.1101/Cshperspect.A022269 |
0.363 |
|
| 2017 |
Herrick N, Davis C, Vargas L, Dietz H, Grossfeld P. Utility of Genetic Testing in Elite Volleyball Players with Aortic Root Dilation. Medicine and Science in Sports and Exercise. PMID 28240702 DOI: 10.1249/Mss.0000000000001236 |
0.347 |
|
| 2017 |
Vricella LA, Ravekes WA, Arbustini E, Jaquiss RD, Mavroudis C, Dietz HC, Jacobs ML, Hibino N, Cameron DE. Simplified mitral valve repair in pediatric patients with connective tissue disorders. The Journal of Thoracic and Cardiovascular Surgery. 153: 399-403. PMID 28104197 DOI: 10.1016/J.Jtcvs.2016.09.039 |
0.331 |
|
| 2016 |
Siddiqi HK, Luminais SN, Montgomery D, Bossone E, Dietz H, Evangelista A, Isselbacher E, LeMaire S, Manfredini R, Milewicz D, Nienaber CA, Roman M, Sechtem U, Silberbach M, Eagle KA, et al. Chronobiology of Acute Aortic Dissection in the Marfan Syndrome (from the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions and the International Registry of Acute Aortic Dissection). The American Journal of Cardiology. PMID 28065489 DOI: 10.1016/J.Amjcard.2016.11.021 |
0.351 |
|
| 2016 |
Patel ND, Crawford T, Magruder JT, Alejo DE, Hibino N, Black J, Dietz HC, Vricella LA, Cameron DE. Cardiovascular operations for Loeys-Dietz syndrome: Intermediate-term results. The Journal of Thoracic and Cardiovascular Surgery. PMID 27955909 DOI: 10.1016/J.Jtcvs.2016.10.088 |
0.338 |
|
| 2016 |
Meester JA, Vandeweyer G, Pintelon I, Lammens M, Van Hoorick L, De Belder S, Waitzman K, Young L, Markham LW, Vogt J, Richer J, Beauchesne LM, Unger S, Superti-Furga A, Prsa M, ... ... Dietz HC, et al. Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 27632686 DOI: 10.1038/Gim.2016.126 |
0.396 |
|
| 2016 |
Guerrerio AL, Frischmeyer-Guerrerio PA, Huang C, Wu Y, Haritunians T, McGovern DP, MacCarrick GL, Brant SR, Dietz HC. Increased Prevalence of Inflammatory Bowel Disease in Patients with Mutations in Genes Encoding the Receptor Subunits for TGFβ. Inflammatory Bowel Diseases. PMID 27508510 DOI: 10.1097/Mib.0000000000000872 |
0.361 |
|
| 2016 |
Weinsaft JW, Devereux RB, Preiss LR, Feher A, Roman MJ, Basson CT, Geevarghese A, Ravekes W, Dietz HC, Holmes K, Habashi J, Pyeritz RE, Bavaria J, Milewski K, LeMaire SA, et al. Aortic Dissection in Patients With Genetically Mediated Aneurysms: Incidence and Predictors in the GenTAC Registry. Journal of the American College of Cardiology. 67: 2744-54. PMID 27282895 DOI: 10.1016/J.Jacc.2016.03.570 |
0.347 |
|
| 2016 |
Andelfinger G, Loeys B, Dietz H. A Decade of Discovery in the Genetic Understanding of Thoracic Aortic Disease. The Canadian Journal of Cardiology. 32: 13-25. PMID 26724507 DOI: 10.1016/J.Cjca.2015.10.017 |
0.407 |
|
| 2016 |
Williams D, Lindley K, Russo M, Habashi J, Dietz H, Braverman A. PREGNANCY AFTER AORTIC ROOT REPLACEMENT IN MARFAN SYNDROME: A SURVEY AND REVIEW OF THE LITERATURE Journal of the American College of Cardiology. 67: 904. DOI: 10.1016/S0735-1097(16)30905-6 |
0.309 |
|
| 2015 |
Price J, Magruder JT, Young A, Grimm JC, Patel ND, Alejo D, Dietz HC, Vricella LA, Cameron DE. Long-term outcomes of aortic root operations for Marfan syndrome: A comparison of Bentall versus aortic valve-sparing procedures. The Journal of Thoracic and Cardiovascular Surgery. PMID 26704057 DOI: 10.1016/J.Jtcvs.2015.10.068 |
0.339 |
|
| 2015 |
Bennett CL, Aziz H, Sparks E, Shah T, Yoder M, MacCarrick G, Dietz HC. Massive hemoptysis in Loeys-Dietz syndrome. American Journal of Medical Genetics. Part A. PMID 26614122 DOI: 10.1002/Ajmg.A.37487 |
0.362 |
|
| 2015 |
Doyle JJ, Doyle AJ, Wilson NK, Habashi JP, Bedja D, Whitworth RE, Lindsay ME, Schoenhoff F, Myers L, Huso N, Bachir S, Squires O, Rusholme B, Ehsan H, Huso D, ... ... Dietz HC, et al. A deleterious gene-by-environment interaction imposed by calcium channel blockers in Marfan syndrome. Elife. 4. PMID 26506064 DOI: 10.7554/Elife.08648 |
0.411 |
|
| 2015 |
Levine RA, Hagége AA, Judge DP, Padala M, Dal-Bianco JP, Aikawa E, Beaudoin J, Bischoff J, Bouatia-Naji N, Bruneval P, Butcher JT, Carpentier A, Chaput M, Chester AH, Clusel C, ... ... Dietz HC, et al. Mitral valve disease-morphology and mechanisms. Nature Reviews. Cardiology. PMID 26483167 DOI: 10.1038/Nrcardio.2015.161 |
0.362 |
|
| 2015 |
Dewan AK, Tomlinson RE, Mitchell S, Goh BC, Yung RM, Kumar S, Tan EW, Faugere MC, Dietz HC, Clemens TL, Sponseller PD. Dysregulated TGF-β signaling alters bone microstructure in a mouse model of Loeys-Dietz syndrome. Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society. 33: 1447-54. PMID 26173585 DOI: 10.1002/Jor.22920 |
0.346 |
|
| 2015 |
Busnadiego O, Gorbenko Del Blanco D, González-Santamaría J, Habashi JP, Calderon JF, Sandoval P, Bedja D, Guinea-Viniegra J, Lopez-Cabrera M, Rosell-Garcia T, Snabel JM, Hanemaaijer R, Forteza A, Dietz HC, Egea G, et al. Elevated expression levels of lysyl oxidases protect against aortic aneurysm progression in Marfan syndrome. Journal of Molecular and Cellular Cardiology. 85: 48-57. PMID 25988230 DOI: 10.1016/J.Yjmcc.2015.05.008 |
0.443 |
|
| 2015 |
Proost D, Vandeweyer G, Meester JA, Salemink S, Kempers M, Ingram C, Peeters N, Saenen J, Vrints C, Lacro RV, Roden D, Wuyts W, Dietz HC, Mortier G, Loeys BL, et al. Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes. Human Mutation. 36: 808-14. PMID 25907466 DOI: 10.1002/Humu.22802 |
0.375 |
|
| 2015 |
Dietz HC. Potential Phenotype-Genotype Correlation in Marfan Syndrome: When Less is More? Circulation. Cardiovascular Genetics. 8: 256-60. PMID 25901038 DOI: 10.1161/Circgenetics.115.001040 |
0.436 |
|
| 2015 |
Bertoli-Avella AM, Gillis E, Morisaki H, Verhagen JM, de Graaf BM, van de Beek G, Gallo E, Kruithof BP, Venselaar H, Myers LA, Laga S, Doyle AJ, Oswald G, van Cappellen GW, Yamanaka I, ... ... Dietz HC, et al. Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. Journal of the American College of Cardiology. 65: 1324-36. PMID 25835445 DOI: 10.1016/J.Jacc.2015.01.040 |
0.437 |
|
| 2015 |
Fuhrhop SK, McElroy MJ, Dietz HC, MacCarrick GL, Sponseller PD. High prevalence of cervical deformity and instability requires surveillance in Loeys-Dietz syndrome. The Journal of Bone and Joint Surgery. American Volume. 97: 411-9. PMID 25740032 DOI: 10.2106/Jbjs.N.00680 |
0.308 |
|
| 2015 |
Crosas-Molist E, Meirelles T, López-Luque J, Serra-Peinado C, Selva J, Caja L, Gorbenko Del Blanco D, Uriarte JJ, Bertran E, Mendizábal Y, Hernández V, García-Calero C, Busnadiego O, Condom E, Toral D, ... ... Dietz HC, et al. Vascular smooth muscle cell phenotypic changes in patients with Marfan syndrome. Arteriosclerosis, Thrombosis, and Vascular Biology. 35: 960-72. PMID 25593132 DOI: 10.1161/Atvbaha.114.304412 |
0.404 |
|
| 2015 |
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, ... ... Dietz HC, et al. The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome. European Journal of Human Genetics : Ejhg. 23: 224-8. PMID 24736733 DOI: 10.1038/Ejhg.2014.61 |
0.37 |
|
| 2014 |
Lacro RV, Dietz HC, Sleeper LA, Yetman AT, Bradley TJ, Colan SD, Pearson GD, Selamet Tierney ES, Levine JC, Atz AM, Benson DW, Braverman AC, Chen S, De Backer J, Gelb BD, et al. Atenolol versus losartan in children and young adults with Marfan's syndrome. The New England Journal of Medicine. 371: 2061-71. PMID 25405392 DOI: 10.1056/Nejmoa1404731 |
0.362 |
|
| 2014 |
Chetaille P, Preuss C, Burkhard S, Côté JM, Houde C, Castilloux J, Piché J, Gosset N, Leclerc S, Wünnemann F, Thibeault M, Gagnon C, Galli A, Tuck E, Hickson GR, ... ... Dietz HC, et al. Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm. Nature Genetics. 46: 1245-9. PMID 25282101 DOI: 10.1038/Ng.3113 |
0.383 |
|
| 2014 |
Bjornsson HT, Benjamin JS, Zhang L, Weissman J, Gerber EE, Chen YC, Vaurio RG, Potter MC, Hansen KD, Dietz HC. Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome. Science Translational Medicine. 6: 256ra135. PMID 25273096 DOI: 10.1126/Scitranslmed.3009278 |
0.317 |
|
| 2014 |
Lindsay ME, Dietz HC. The genetic basis of aortic aneurysm. Cold Spring Harbor Perspectives in Medicine. 4: a015909. PMID 25183854 DOI: 10.1101/Cshperspect.A015909 |
0.397 |
|
| 2014 |
Chu LC, Johnson PT, Dietz HC, Fishman EK. CT angiographic evaluation of genetic vascular disease: role in detection, staging, and management of complex vascular pathologic conditions. Ajr. American Journal of Roentgenology. 202: 1120-9. PMID 24758669 DOI: 10.2214/Ajr.13.11485 |
0.336 |
|
| 2014 |
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, et al. Clinical and biochemical profiles suggest fibromuscular dysplasia is a systemic disease with altered TGF-β expression and connective tissue features Faseb Journal. 28: 3313-3324. PMID 24732132 DOI: 10.1096/Fj.14-251207 |
0.338 |
|
| 2014 |
Coselli JS, Volguina IV, LeMaire SA, Sundt TM, Connolly HM, Stephens EH, Schaff HV, Milewicz DM, Vricella LA, Dietz HC, Minard CG, Miller DC. Early and 1-year outcomes of aortic root surgery in patients with Marfan syndrome: a prospective, multicenter, comparative study. The Journal of Thoracic and Cardiovascular Surgery. 147: 1758-66, 1767.e1-4. PMID 24655904 DOI: 10.1016/J.Jtcvs.2014.02.021 |
0.366 |
|
| 2014 |
Bai S, Lozada A, Jones MC, Dietz HC, Dempsey M, Das S. Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy. Case Reports in Genetics. 2014: 508231. PMID 24639906 DOI: 10.1155/2014/508231 |
0.346 |
|
| 2014 |
Renard M, Trachet B, Casteleyn C, Campens L, Cornillie P, Callewaert B, Deleye S, Vandeghinste B, Van Heijningen PM, Dietz H, De Vos F, Essers J, Staelens S, Segers P, Loeys B, et al. Absence of cardiovascular manifestations in a haploinsufficient Tgfbr1 mouse model Plos One. 9. PMID 24587008 DOI: 10.1371/Journal.Pone.0089749 |
0.437 |
|
| 2014 |
MacCarrick G, Black JH, Bowdin S, El-Hamamsy I, Frischmeyer-Guerrerio PA, Guerrerio AL, Sponseller PD, Loeys B, Dietz HC. Loeys-Dietz syndrome: a primer for diagnosis and management. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 16: 576-87. PMID 24577266 DOI: 10.1038/Gim.2014.11 |
0.323 |
|
| 2014 |
Van Laer L, Dietz H, Loeys B. Loeys-Dietz syndrome. Advances in Experimental Medicine and Biology. 802: 95-105. PMID 24443023 DOI: 10.1007/978-94-007-7893-1_7 |
0.461 |
|
| 2014 |
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. Tgfbr2 disruption in postnatal smooth muscle impairs aortic wall homeostasis. The Journal of Clinical Investigation. 124: 755-67. PMID 24401272 DOI: 10.1172/Jci69942 |
0.385 |
|
| 2014 |
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, ... ... Dietz HC, et al. Angiotensin II-dependent TGF-β signaling contributes to Loeys-Dietz syndrome vascular pathogenesis. The Journal of Clinical Investigation. 124: 448-60. PMID 24355923 DOI: 10.1172/Jci69666 |
0.785 |
|
| 2014 |
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. A Pkd1-Fbn1 genetic interaction implicates TGF-β signaling in the pathogenesis of vascular complications in autosomal dominant polycystic kidney disease. Journal of the American Society of Nephrology : Jasn. 25: 81-91. PMID 24071006 DOI: 10.1681/Asn.2012050486 |
0.435 |
|
| 2013 |
Gerber EE, Gallo EM, Fontana SC, Davis EC, Wigley FM, Huso DL, Dietz HC. Integrin-modulating therapy prevents fibrosis and autoimmunity in mouse models of scleroderma. Nature. 503: 126-30. PMID 24107997 DOI: 10.1038/Nature12614 |
0.779 |
|
| 2013 |
Kunkala MR, Schaff HV, Li Z, Volguina I, Dietz HC, LeMaire SA, Coselli JS, Connolly H. Mitral valve disease in patients with Marfan syndrome undergoing aortic root replacement. Circulation. 128: S243-7. PMID 24030414 DOI: 10.1161/Circulationaha.112.000113 |
0.382 |
|
| 2013 |
Frischmeyer-Guerrerio PA, Guerrerio AL, Oswald G, Chichester K, Myers L, Halushka MK, Oliva-Hemker M, Wood RA, Dietz HC. TGFβ receptor mutations impose a strong predisposition for human allergic disease. Science Translational Medicine. 5: 195ra94. PMID 23884466 DOI: 10.1126/Scitranslmed.3006448 |
0.337 |
|
| 2013 |
Kane MS, Lindsay ME, Judge DP, Barrowman J, Ap Rhys C, Simonson L, Dietz HC, Michaelis S. LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset. American Journal of Medical Genetics. Part A. 161: 1599-611. PMID 23666920 DOI: 10.1002/Ajmg.A.35971 |
0.383 |
|
| 2013 |
Kent KC, Crenshaw ML, Goh DL, Dietz HC. Genotype-phenotype correlation in patients with bicuspid aortic valve and aneurysm. The Journal of Thoracic and Cardiovascular Surgery. 146: 158-165.e1. PMID 23102684 DOI: 10.1016/J.Jtcvs.2012.09.060 |
0.782 |
|
| 2013 |
Nagy CD, Alejo DE, Corretti MC, Ravekes WJ, Crosson JE, Spevak PJ, Ringel R, Carson KA, Khalil S, Dietz HC, Cameron DE, Vricella LA, Traill TA, Holmes KW. Tetralogy of Fallot and aortic root dilation: a long-term outlook. Pediatric Cardiology. 34: 809-16. PMID 23080541 DOI: 10.1007/S00246-012-0537-8 |
0.344 |
|
| 2013 |
van der Linde D, Verhagen HJ, Moelker A, van de Laar IM, Van Herzeele I, De Backer J, Dietz HC, Roos-Hesselink JW. Aneurysm-osteoarthritis syndrome with visceral and iliac artery aneurysms. Journal of Vascular Surgery. 57: 96-102. PMID 22975338 DOI: 10.1016/J.Jvs.2012.06.107 |
0.38 |
|
| 2013 |
Renard M, Callewaert B, Baetens M, Campens L, MacDermot K, Fryns JP, Bonduelle M, Dietz HC, Gaspar IM, Cavaco D, Stattin EL, Schrander-Stumpel C, Coucke P, Loeys B, De Paepe A, et al. Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD International Journal of Cardiology. 165: 314-321. PMID 21937134 DOI: 10.1016/J.Ijcard.2011.08.079 |
0.414 |
|
| 2012 |
Doyle AJ, Doyle JJ, Bessling SL, Maragh S, Lindsay ME, Schepers D, Gillis E, Mortier G, Homfray T, Sauls K, Norris RA, Huso ND, Leahy D, Mohr DW, Caulfield MJ, ... ... Dietz HC, et al. Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nature Genetics. 44: 1249-54. PMID 23023332 DOI: 10.1038/Ng.2421 |
0.43 |
|
| 2012 |
Gould RA, Sinha R, Aziz H, Rouf R, Dietz HC, Judge DP, Butcher J. Multi-scale biomechanical remodeling in aging and genetic mutant murine mitral valve leaflets: insights into Marfan syndrome. Plos One. 7: e44639. PMID 22984535 DOI: 10.1371/Journal.Pone.0044639 |
0.356 |
|
| 2012 |
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, ... ... Dietz HC, et al. Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nature Genetics. 44: 922-7. PMID 22772368 DOI: 10.1038/Ng.2349 |
0.478 |
|
| 2012 |
Doyle JJ, Gerber EE, Dietz HC. Matrix-dependent perturbation of TGFβ signaling and disease Febs Letters. 586: 2003-2015. PMID 22641039 DOI: 10.1016/J.Febslet.2012.05.027 |
0.337 |
|
| 2012 |
Wei H, Bedja D, Koitabashi N, Xing D, Chen J, Fox-Talbot K, Rouf R, Chen S, Steenbergen C, Harmon JW, Dietz HC, Gabrielson KL, Kass DA, Semenza GL. Endothelial expression of hypoxia-inducible factor 1 protects the murine heart and aorta from pressure overload by suppression of TGF-β signaling. Proceedings of the National Academy of Sciences of the United States of America. 109: E841-50. PMID 22403061 DOI: 10.1073/Pnas.1202081109 |
0.317 |
|
| 2012 |
van de Laar IM, van der Linde D, Oei EH, Bos PK, Bessems JH, Bierma-Zeinstra SM, van Meer BL, Pals G, Oldenburg RA, Bekkers JA, Moelker A, de Graaf BM, Matyas G, Frohn-Mulder IM, Timmermans J, ... ... Dietz HC, et al. Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome. Journal of Medical Genetics. 49: 47-57. PMID 22167769 DOI: 10.1136/Jmedgenet-2011-100382 |
0.436 |
|
| 2012 |
Haskett D, Doyle JJ, Gard C, Chen H, Ball C, Estabrook MA, Encinas AC, Dietz HC, Utzinger U, Vande Geest JP, Azhar M. Altered tissue behavior of a non-aneurysmal descending thoracic aorta in the mouse model of Marfan syndrome. Cell and Tissue Research. 347: 267-77. PMID 22105919 DOI: 10.1007/S00441-011-1270-Y |
0.419 |
|
| 2012 |
Song HK, Kindem M, Bavaria JE, Dietz HC, Milewicz DM, Devereux RB, Eagle KA, Maslen CL, Kroner BL, Pyeritz RE, Holmes KW, Weinsaft JW, Menashe V, Ravekes W, LeMaire SA, et al. Long-term implications of emergency versus elective proximal aortic surgery in patients with Marfan syndrome in the Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Consortium Registry. The Journal of Thoracic and Cardiovascular Surgery. 143: 282-6. PMID 22104675 DOI: 10.1016/J.Jtcvs.2011.10.024 |
0.369 |
|
| 2012 |
Cohn RD, Dietz HC. Molecular pathogenesis of skeletal muscle abnormalities in marfan syndrome Muscle. 2: 995-1001. DOI: 10.1016/B978-0-12-381510-1.00071-5 |
0.406 |
|
| 2011 |
Kroner BL, Tolunay HE, Basson CT, Pyeritz RE, Holmes KW, Maslen CL, Milewicz DM, LeMaire SA, Hendershot T, Desvigne-Nickens P, Devereux RB, Dietz HC, Song HK, Ringer D, Mitchell M, et al. The National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC): results from phase I and scientific opportunities in phase II. American Heart Journal. 162: 627-632.e1. PMID 21982653 DOI: 10.1016/J.Ahj.2011.07.002 |
0.319 |
|
| 2011 |
McLoughlin D, McGuinness J, Byrne J, Terzo E, Huuskonen V, McAllister H, Black A, Kearney S, Kay E, Hill AD, Dietz HC, Redmond JM. Pravastatin reduces Marfan aortic dilation. Circulation. 124: S168-73. PMID 21911808 DOI: 10.1161/Circulationaha.110.012187 |
0.405 |
|
| 2011 |
Judge DP, Rouf R, Habashi J, Dietz HC. Mitral valve disease in Marfan syndrome and related disorders. Journal of Cardiovascular Translational Research. 4: 741-7. PMID 21866385 DOI: 10.1007/S12265-011-9314-Y |
0.406 |
|
| 2011 |
Patel ND, Arnaoutakis GJ, George TJ, Allen JG, Alejo DE, Dietz HC, Cameron DE, Vricella LA. Valve-sparing aortic root replacement in Loeys-Dietz syndrome. The Annals of Thoracic Surgery. 92: 556-60; discussion 5. PMID 21801912 DOI: 10.1016/J.Athoracsur.2011.04.003 |
0.377 |
|
| 2011 |
Mendoza DD, Kochar M, Devereux RB, Basson CT, Min JK, Holmes K, Dietz HC, Milewicz DM, LeMaire SA, Pyeritz RE, Bavaria JE, Maslen CL, Song H, Kroner BL, Eagle KA, et al. Impact of image analysis methodology on diagnostic and surgical classification of patients with thoracic aortic aneurysms. The Annals of Thoracic Surgery. 92: 904-12. PMID 21723533 DOI: 10.1016/J.Athoracsur.2011.03.130 |
0.315 |
|
| 2011 |
Frischmeyer-Guerrerio PA, Montgomery RA, Warren DS, Cooke SK, Lutz J, Sonnenday CJ, Guerrerio AL, Dietz HC. Perturbation of thymocyte development in nonsense-mediated decay (NMD)-deficient mice. Proceedings of the National Academy of Sciences of the United States of America. 108: 10638-43. PMID 21670277 DOI: 10.1073/Pnas.1019352108 |
0.347 |
|
| 2011 |
Lindsay ME, Dietz HC. Lessons on the pathogenesis of aneurysm from heritable conditions. Nature. 473: 308-16. PMID 21593863 DOI: 10.1038/Nature10145 |
0.421 |
|
| 2011 |
Habashi JP, Doyle JJ, Holm TM, Aziz H, Schoenhoff F, Bedja D, Chen Y, Modiri AN, Judge DP, Dietz HC. Angiotensin II type 2 receptor signaling attenuates aortic aneurysm in mice through ERK antagonism. Science (New York, N.Y.). 332: 361-5. PMID 21493863 DOI: 10.1126/Science.1192152 |
0.732 |
|
| 2011 |
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, et al. Noncanonical TGFβ signaling contributes to aortic aneurysm progression in Marfan syndrome mice. Science (New York, N.Y.). 332: 358-61. PMID 21493862 DOI: 10.1126/Science.1192149 |
0.739 |
|
| 2011 |
Patel ND, Arnaoutakis GJ, George TJ, Allen JG, Alejo DE, Dietz HC, Cameron DE, Vricella LA. Valve-sparing aortic root replacement in children: intermediate-term results. Interactive Cardiovascular and Thoracic Surgery. 12: 415-9, discussion 41. PMID 21118834 DOI: 10.1510/Icvts.2010.255596 |
0.353 |
|
| 2011 |
Jain D, Dietz HC, Oswald GL, Maleszewski JJ, Halushka MK. Causes and histopathology of ascending aortic disease in children and young adults. Cardiovascular Pathology : the Official Journal of the Society For Cardiovascular Pathology. 20: 15-25. PMID 19926309 DOI: 10.1016/J.Carpath.2009.09.008 |
0.362 |
|
| 2010 |
Nistala H, Lee-Arteaga S, Carta L, Cook JR, Smaldone S, Siciliano G, Rifkin AN, Dietz HC, Rifkin DB, Ramirez F. Differential effects of alendronate and losartan therapy on osteopenia and aortic aneurysm in mice with severe Marfan syndrome. Human Molecular Genetics. 19: 4790-8. PMID 20871099 DOI: 10.1093/Hmg/Ddq409 |
0.338 |
|
| 2010 |
Erkula G, Sponseller PD, Paulsen LC, Oswald GL, Loeys BL, Dietz HC. Musculoskeletal findings of Loeys-Dietz syndrome. The Journal of Bone and Joint Surgery. American Volume. 92: 1876-83. PMID 20686062 DOI: 10.2106/Jbjs.I.01140 |
0.399 |
|
| 2010 |
Sponseller PD, Erkula G, Skolasky RL, Venuti KD, Dietz HC. Improving clinical recognition of Marfan syndrome. The Journal of Bone and Joint Surgery. American Volume. 92: 1868-75. PMID 20686061 DOI: 10.2106/Jbjs.I.00892 |
0.301 |
|
| 2010 |
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. The revised Ghent nosology for the Marfan syndrome. Journal of Medical Genetics. 47: 476-85. PMID 20591885 DOI: 10.1136/Jmg.2009.072785 |
0.318 |
|
| 2010 |
Renard M, Holm T, Veith R, Callewaert BL, Adès LC, Baspinar O, Pickart A, Dasouki M, Hoyer J, Rauch A, Trapane P, Earing MG, Coucke PJ, Sakai LY, Dietz HC, et al. Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. European Journal of Human Genetics : Ejhg. 18: 895-901. PMID 20389311 DOI: 10.1038/Ejhg.2010.45 |
0.753 |
|
| 2010 |
Dietz HC. TGF-beta in the pathogenesis and prevention of disease: a matter of aneurysmic proportions. The Journal of Clinical Investigation. 120: 403-7. PMID 20101091 DOI: 10.1172/Jci42014 |
0.403 |
|
| 2010 |
Matt P, Huso DL, Habashi J, Holm T, Doyle J, Schoenhoff F, Liu G, Black J, Van Eyk JE, Dietz HC. Murine model of surgically induced acute aortic dissection type A. The Journal of Thoracic and Cardiovascular Surgery. 139: 1041-7. PMID 19910001 DOI: 10.1016/J.Jtcvs.2009.08.039 |
0.709 |
|
| 2009 |
Matt P, Schoenhoff F, Habashi J, Holm T, Van Erp C, Loch D, Carlson OD, Griswold BF, Fu Q, De Backer J, Loeys B, Huso DL, McDonnell NB, Van Eyk JE, Dietz HC, et al. Circulating transforming growth factor-beta in Marfan syndrome. Circulation. 120: 526-32. PMID 19635970 DOI: 10.1161/Circulationaha.108.841981 |
0.712 |
|
| 2009 |
Volguina IV, Miller DC, LeMaire SA, Palmero LC, Wang XL, Connolly HM, Sundt TM, Bavaria JE, Dietz HC, Milewicz DM, Coselli JS. Valve-sparing and valve-replacing techniques for aortic root replacement in patients with Marfan syndrome: Analysis of early outcome. The Journal of Thoracic and Cardiovascular Surgery. 137: 1124-32. PMID 19379977 DOI: 10.1016/J.Jtcvs.2009.03.023 |
0.35 |
|
| 2009 |
Cameron DE, Alejo DE, Patel ND, Nwakanma LU, Weiss ES, Vricella LA, Dietz HC, Spevak PJ, Williams JA, Bethea BT, Fitton TP, Gott VL. Aortic root replacement in 372 Marfan patients: evolution of operative repair over 30 years. The Annals of Thoracic Surgery. 87: 1344-9; discussion 1. PMID 19379862 DOI: 10.1016/J.Athoracsur.2009.01.073 |
0.347 |
|
| 2009 |
Carta L, Smaldone S, Zilberberg L, Loch D, Dietz HC, Rifkin DB, Ramirez F. p38 MAPK is an early determinant of promiscuous Smad2/3 signaling in the aortas of fibrillin-1 (Fbn1)-null mice. The Journal of Biological Chemistry. 284: 5630-6. PMID 19109253 DOI: 10.1074/Jbc.M806962200 |
0.436 |
|
| 2009 |
Dabovic B, Chen Y, Choi J, Vassallo M, Dietz HC, Ramirez F, von Melchner H, Davis EC, Rifkin DB. Dual functions for LTBP in lung development: LTBP-4 independently modulates elastogenesis and TGF-beta activity. Journal of Cellular Physiology. 219: 14-22. PMID 19016471 DOI: 10.1002/Jcp.21643 |
0.325 |
|
| 2009 |
Maleszewski JJ, Miller DV, Lu J, Dietz HC, Halushka MK. Histopathologic findings in ascending aortas from individuals with Loeys-Dietz syndrome (LDS). The American Journal of Surgical Pathology. 33: 194-201. PMID 18852674 DOI: 10.1097/Pas.0B013E31817F3661 |
0.383 |
|
| 2008 |
Pearson GD, Devereux R, Loeys B, Maslen C, Milewicz D, Pyeritz R, Ramirez F, Rifkin D, Sakai L, Svensson L, Wessels A, Van Eyk J, Dietz HC. Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group on research in Marfan syndrome and related disorders. Circulation. 118: 785-91. PMID 18695204 DOI: 10.1161/Circulationaha.108.783753 |
0.411 |
|
| 2008 |
Garringer HJ, Malekpour M, Esteghamat F, Mortazavi SM, Davis SI, Farrow EG, Yu X, Arking DE, Dietz HC, White KE. Molecular genetic and biochemical analyses of FGF23 mutations in familial tumoral calcinosis. American Journal of Physiology. Endocrinology and Metabolism. 295: E929-37. PMID 18682534 DOI: 10.1152/Ajpendo.90456.2008 |
0.541 |
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| 2008 |
Brooke BS, Habashi JP, Judge DP, Patel N, Loeys B, Dietz HC. Angiotensin II blockade and aortic-root dilation in Marfan's syndrome. The New England Journal of Medicine. 358: 2787-95. PMID 18579813 DOI: 10.1056/Nejmoa0706585 |
0.417 |
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| 2008 |
Patel ND, Weiss ES, Alejo DE, Nwakanma LU, Williams JA, Dietz HC, Spevak PJ, Gott VL, Vricella LA, Cameron DE. Aortic root operations for Marfan syndrome: a comparison of the Bentall and valve-sparing procedures. The Annals of Thoracic Surgery. 85: 2003-10; discussion . PMID 18498810 DOI: 10.1016/J.Athoracsur.2008.01.032 |
0.336 |
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| 2008 |
Phillips JA, Poling JS, Phillips CA, Stanton KC, Austin ED, Cogan JD, Wheeler L, Yu C, Newman JH, Dietz HC, Loyd JE. Synergistic heterozygosity for TGFbeta1 SNPs and BMPR2 mutations modulates the age at diagnosis and penetrance of familial pulmonary arterial hypertension. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 10: 359-65. PMID 18496036 DOI: 10.1097/Gim.0B013E318172Dcdf |
0.311 |
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| 2008 |
Matt P, Habashi J, Carrel T, Cameron DE, Van Eyk JE, Dietz HC. Recent advances in understanding Marfan syndrome: should we now treat surgical patients with losartan? The Journal of Thoracic and Cardiovascular Surgery. 135: 389-94. PMID 18242274 DOI: 10.1016/J.Jtcvs.2007.08.047 |
0.389 |
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| 2008 |
Xiong W, Knispel RA, Dietz HC, Ramirez F, Baxter BT. Doxycycline delays aneurysm rupture in a mouse model of Marfan syndrome. Journal of Vascular Surgery. 47: 166-72; discussion 1. PMID 18178469 DOI: 10.1016/J.Jvs.2007.09.016 |
0.381 |
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| 2008 |
Judge DP, Dietz HC. Therapy of Marfan syndrome Annual Review of Medicine. 59: 43-59. PMID 17845137 DOI: 10.1146/Annurev.Med.59.103106.103801 |
0.431 |
|
| 2008 |
Carta L, Smaldone S, Zilberberg L, Lock D, Dietz HC, Rifkin DB, Ramirez F. MAPKp38 determines Smad2/3 signaling in the fbn1 null mouse aorta Matrix Biology. 27: 40. DOI: 10.1016/J.Matbio.2008.09.341 |
0.318 |
|
| 2007 |
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, et al. 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. American Heart Journal. 154: 624-31. PMID 17892982 DOI: 10.1016/J.Ahj.2007.06.024 |
0.383 |
|
| 2007 |
Ramirez F, Dietz HC. Fibrillin-rich microfibrils: Structural determinants of morphogenetic and homeostatic events. Journal of Cellular Physiology. 213: 326-30. PMID 17708531 DOI: 10.1002/Jcp.21189 |
0.374 |
|
| 2007 |
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, et al. 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. American Journal of Human Genetics. 81: 454-66. PMID 17701892 DOI: 10.1086/520125 |
0.406 |
|
| 2007 |
Loscalzo ML, Goh DL, Loeys B, Kent KC, Spevak PJ, Dietz HC. Familial thoracic aortic dilation and bicommissural aortic valve: a prospective analysis of natural history and inheritance. American Journal of Medical Genetics. Part A. 143: 1960-7. PMID 17676603 DOI: 10.1002/Ajmg.A.31872 |
0.769 |
|
| 2007 |
Chung AWY, Au Yeung K, Sandor GGS, Judge DP, Dietz HC, Van Breemen C. Loss of elastic fiber integrity and reduction of vascular smooth muscle contraction resulting from the upregulated activities of matrix metalloproteinase-2 and -9 in the thoracic aortic aneurysm in Marfan syndrome Circulation Research. 101: 512-522. PMID 17641224 DOI: 10.1161/Circresaha.107.157776 |
0.386 |
|
| 2007 |
Ramirez F, Sakai LY, Rifkin DB, Dietz HC. Extracellular microfibrils in development and disease. Cellular and Molecular Life Sciences : Cmls. 64: 2437-46. PMID 17585369 DOI: 10.1007/S00018-007-7166-Z |
0.313 |
|
| 2007 |
Johnson PT, Chen JK, Loeys BL, Dietz HC, Fishman EK. Loeys-Dietz syndrome: MDCT angiography findings. Ajr. American Journal of Roentgenology. 189: W29-35. PMID 17579132 DOI: 10.2214/Ajr.06.1316 |
0.404 |
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| 2007 |
Ramirez F, Dietz HC. Marfan syndrome: from molecular pathogenesis to clinical treatment. Current Opinion in Genetics & Development. 17: 252-8. PMID 17467262 DOI: 10.1016/J.Gde.2007.04.006 |
0.374 |
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| 2007 |
Holmes KW, Lehmann CU, Dalal D, Nasir K, Dietz HC, Ravekes WJ, Thompson WR, Spevak PJ. Progressive dilation of the ascending aorta in children with isolated bicuspid aortic valve. The American Journal of Cardiology. 99: 978-83. PMID 17398196 DOI: 10.1016/J.Amjcard.2006.10.065 |
0.344 |
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| 2007 |
Chung AWY, Au Yeung K, Cortes SF, Sandor GGS, Judge DP, Dietz HC, Van Breemen C. Endothelial dysfunction and compromised eNOS/Akt signaling in the thoracic aorta during the progression of Marfan syndrome British Journal of Pharmacology. 150: 1075-1083. PMID 17339838 DOI: 10.1038/Sj.Bjp.0707181 |
0.377 |
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| 2007 |
Hanada K, Vermeij M, Garinis GA, de Waard MC, Kunen MG, Myers L, Maas A, Duncker DJ, Meijers C, Dietz HC, Kanaar R, Essers J. Perturbations of vascular homeostasis and aortic valve abnormalities in fibulin-4 deficient mice. Circulation Research. 100: 738-46. PMID 17293478 DOI: 10.1161/01.Res.0000260181.19449.95 |
0.407 |
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| 2007 |
Williams JA, Loeys BL, Nwakanma LU, Dietz HC, Spevak PJ, Patel ND, François K, DeBacker J, Gott VL, Vricella LA, Cameron DE. Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease. The Annals of Thoracic Surgery. 83: S757-63; discussion . PMID 17257922 DOI: 10.1016/J.Athoracsur.2006.10.091 |
0.402 |
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| 2007 |
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. Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states. Nature Medicine. 13: 204-10. PMID 17237794 DOI: 10.1038/Nm1536 |
0.714 |
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| 2007 |
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. Erratum: Corrigendum: Angiotensin II type 1 receptor blockade attenuates TGF-β–induced failure of muscle regeneration in multiple myopathic states Nature Medicine. 13: 511-511. DOI: 10.1038/Nm0407-511A |
0.686 |
|
| 2006 |
Bee KJ, Wilkes D, Devereux RB, Lerman BB, Dietz HC, Basson CT. Structural and functional genetic disorders of the great vessels and outflow tracts. Annals of the New York Academy of Sciences. 1085: 256-69. PMID 17182942 DOI: 10.1196/Annals.1383.002 |
0.364 |
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| 2006 |
Guo G, Booms P, Halushka M, Dietz HC, Ney A, Stricker S, Hecht J, Mundlos S, Robinson PN. Induction of macrophage chemotaxis by aortic extracts of the mgR Marfan mouse model and a GxxPG-containing fibrillin-1 fragment. Circulation. 114: 1855-62. PMID 17030689 DOI: 10.1161/Circulationaha.105.601674 |
0.374 |
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| 2006 |
Viassolo V, Lituania M, Marasini M, Dietz H, Benelli F, Forzano F, Faravelli F. Fetal aortic root dilation: A prenatal feature of the Loeys-Dietz syndrome Prenatal Diagnosis. 26: 1081-1083. PMID 16981219 DOI: 10.1002/Pd.1565 |
0.424 |
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| 2006 |
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, ... ... Dietz HC, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. The New England Journal of Medicine. 355: 788-98. PMID 16928994 DOI: 10.1056/Nejmoa055695 |
0.758 |
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| 2006 |
Patel ND, Williams JA, Barreiro CJ, Bethea BT, Fitton TP, Dietz HC, Lima JA, Spevak PJ, Gott VL, Vricella LA, Cameron DE. Valve-sparing aortic root replacement: early experience with the De Paulis Valsalva graft in 51 patients. The Annals of Thoracic Surgery. 82: 548-53. PMID 16863761 DOI: 10.1016/J.Athoracsur.2006.03.073 |
0.357 |
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| 2006 |
Awad MM, Dalal D, Cho E, Amat-Alarcon N, James C, Tichnell C, Tucker A, Russell SD, Bluemke DA, Dietz HC, Calkins H, Judge DP. DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy American Journal of Human Genetics. 79: 136-142. PMID 16773573 DOI: 10.1086/504393 |
0.549 |
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| 2006 |
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, ... Dietz HC, et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science (New York, N.Y.). 312: 117-21. PMID 16601194 DOI: 10.1126/Science.1124287 |
0.752 |
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| 2006 |
Robinson PN, Arteaga-Solis E, Baldock C, Collod-Béroud G, Booms P, De Paepe A, Dietz HC, Guo G, Handford PA, Judge DP, Kielty CM, Loeys B, Milewicz DM, Ney A, Ramirez F, et al. The molecular genetics of Marfan syndrome and related disorders. Journal of Medical Genetics. 43: 769-87. PMID 16571647 DOI: 10.1136/Jmg.2005.039669 |
0.378 |
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| 2006 |
Coucke PJ, Willaert A, Wessels MW, Callewaert B, Zoppi N, De Backer J, Fox JE, Mancini GM, Kambouris M, Gardella R, Facchetti F, Willems PJ, Forsyth R, Dietz HC, Barlati S, et al. Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nature Genetics. 38: 452-7. PMID 16550171 DOI: 10.1038/Ng1764 |
0.345 |
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| 2006 |
Badano JL, Leitch CC, Ansley SJ, May-Simera H, Lawson S, Lewis RA, Beales PL, Dietz HC, Fisher S, Katsanis N. Dissection of epistasis in oligogenic Bardet-Biedl syndrome. Nature. 439: 326-30. PMID 16327777 DOI: 10.1038/Nature04370 |
0.357 |
|
| 2006 |
Habashi J, Judge D, Holm T, Cohn R, Loeys B, Cooper T, Myers L, Klein E, Liu G, Calvi C, Podowski M, Neptune E, Halushka M, Bedja D, Gabrielson K, ... Dietz H, et al. Losartan in Marfan Syndrome—Beyond Blood Pressure Lowering Journal of the American Society of Nephrology. 17: 1759-1764. DOI: 10.1681/Asn.2006050508 |
0.338 |
|
| 2005 |
Judge DP, Dietz HC. Marfan's syndrome. Lancet (London, England). 366: 1965-76. PMID 16325700 DOI: 10.1016/S0140-6736(05)67789-6 |
0.422 |
|
| 2005 |
Dietz HC, Loeys B, Carta L, Ramirez F. Recent progress towards a molecular understanding of Marfan syndrome. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 139: 4-9. PMID 16273535 DOI: 10.1002/Ajmg.C.30068 |
0.375 |
|
| 2005 |
Vricella LA, Williams JA, Ravekes WJ, Holmes KW, Dietz HC, Gott VL, Cameron DE. Early experience with valve-sparing aortic root replacement in children. The Annals of Thoracic Surgery. 80: 1622-6; discussion 1. PMID 16242427 DOI: 10.1016/J.Athoracsur.2005.04.062 |
0.319 |
|
| 2005 |
Milewicz DM, Dietz HC, Miller DC. Treatment of aortic disease in patients with Marfan syndrome. Circulation. 111: e150-7. PMID 15781745 DOI: 10.1161/01.Cir.0000155243.70456.F4 |
0.404 |
|
| 2005 |
Loscalzo ML, Van PL, Ho VB, Bakalov VK, Rosing DR, Malone CA, Dietz HC, Bondy CA. Association between fetal lymphedema and congenital cardiovascular defects in Turner syndrome. Pediatrics. 115: 732-5. PMID 15741379 DOI: 10.1542/Peds.2004-1369 |
0.338 |
|
| 2005 |
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, ... ... Dietz HC, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nature Genetics. 37: 275-81. PMID 15731757 DOI: 10.1038/Ng1511 |
0.801 |
|
| 2005 |
Arking DE, Atzmon G, Arking A, Barzilai N, Dietz HC. Association between a functional variant of the KLOTHO gene and high-density lipoprotein cholesterol, blood pressure, stroke, and longevity. Circulation Research. 96: 412-8. PMID 15677572 DOI: 10.1161/01.Res.0000157171.04054.30 |
0.506 |
|
| 2004 |
Ramirez F, Dietz HC. Therapy insight: aortic aneurysm and dissection in Marfan's syndrome. Nature Clinical Practice. Cardiovascular Medicine. 1: 31-6. PMID 16265257 DOI: 10.1038/Ncpcardio0020 |
0.427 |
|
| 2004 |
Ng CM, Cheng A, Myers LA, Martinez-Murillo F, Jie C, Bedja D, Gabrielson KL, Hausladen JM, Mecham RP, Judge DP, Dietz HC. TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome. The Journal of Clinical Investigation. 114: 1586-92. PMID 15546004 DOI: 10.1172/JCI22715 |
0.323 |
|
| 2004 |
Mendell JT, Sharifi NA, Meyers JL, Martinez-Murillo F, Dietz HC. Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise. Nature Genetics. 36: 1073-8. PMID 15448691 DOI: 10.1038/Ng1429 |
0.724 |
|
| 2004 |
Bethea BT, Fitton TP, Alejo DE, Barreiro CJ, Cattaneo SM, Dietz HC, Spevak PJ, Lima JA, Gott VL, Cameron DE. Results of aortic valve-sparing operations: experience with remodeling and reimplantation procedures in 65 patients. The Annals of Thoracic Surgery. 78: 767-72; discussion 7. PMID 15336989 DOI: 10.1016/J.Athoracsur.2004.03.040 |
0.341 |
|
| 2004 |
Judge DP, Biery NJ, Keene DR, Geubtner J, Myers L, Huso DL, Sakai LY, Dietz HC. Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome. The Journal of Clinical Investigation. 114: 172-81. PMID 15254584 DOI: 10.1172/Jci20641 |
0.396 |
|
| 2004 |
Cattaneo SM, Bethea BT, Alejo DE, Spevak PJ, Clauss SB, Dietz HC, Gott VL, Cameron DE. Surgery for aortic root aneurysm in children: a 21-year experience in 50 patients. The Annals of Thoracic Surgery. 77: 168-76. PMID 14726057 DOI: 10.1016/S0003-4975(03)01332-8 |
0.324 |
|
| 2004 |
Ng CM, Cheng A, Myers LA, Martinez-Murillo F, Jie C, Bedja D, Gabrielson KL, Hausladen JMW, Mecham RP, Judge DP, Dietz HC. TGF-β–dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome Journal of Clinical Investigation. 114: 1586-1592. DOI: 10.1172/Jci200422715 |
0.437 |
|
| 2003 |
Hutchinson S, Furger A, Halliday D, Judge DP, Jefferson A, Dietz HC, Firth H, Handford PA. Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype? Human Molecular Genetics. 12: 2269-76. PMID 12915484 DOI: 10.1093/Hmg/Ddg241 |
0.389 |
|
| 2003 |
Arking DE, Becker DM, Yanek LR, Fallin D, Judge DP, Moy TF, Becker LC, Dietz HC. KLOTHO allele status and the risk of early-onset occult coronary artery disease. American Journal of Human Genetics. 72: 1154-61. PMID 12669274 DOI: 10.1086/375035 |
0.507 |
|
| 2003 |
Neptune ER, Frischmeyer PA, Arking DE, Myers L, Bunton TE, Gayraud B, Ramirez F, Sakai LY, Dietz HC. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nature Genetics. 33: 407-11. PMID 12598898 DOI: 10.1038/Ng1116 |
0.781 |
|
| 2002 |
Mendell JT, ap Rhys CM, Dietz HC. Separable roles for rent1/hUpf1 in altered splicing and decay of nonsense transcripts. Science (New York, N.Y.). 298: 419-22. PMID 12228722 DOI: 10.1126/Science.1074428 |
0.32 |
|
| 2002 |
Slavotinek AM, Dubovsky E, Dietz HC, Lacbawan F. Report of a child with aortic aneurysm, orofacial clefting, hemangioma, upper sternal defect, and marfanoid features: possible PHACE syndrome. American Journal of Medical Genetics. 110: 283-8. PMID 12116239 DOI: 10.1002/Ajmg.10455 |
0.387 |
|
| 2002 |
van Hoof A, Frischmeyer PA, Dietz HC, Parker R. Exosome-mediated recognition and degradation of mRNAs lacking a termination codon. Science (New York, N.Y.). 295: 2262-4. PMID 11910110 DOI: 10.1126/Science.1067272 |
0.757 |
|
| 2002 |
Frischmeyer PA, van Hoof A, O'Donnell K, Guerrerio AL, Parker R, Dietz HC. An mRNA surveillance mechanism that eliminates transcripts lacking termination codons. Science (New York, N.Y.). 295: 2258-61. PMID 11910109 DOI: 10.1126/Science.1067338 |
0.759 |
|
| 2002 |
Gott VL, Cameron DE, Alejo DE, Greene PS, Shake JG, Caparrelli DJ, Dietz HC. Aortic root replacement in 271 Marfan patients: a 24-year experience. The Annals of Thoracic Surgery. 73: 438-43. PMID 11845856 DOI: 10.1016/S0003-4975(01)03336-7 |
0.323 |
|
| 2002 |
Arking DE, Krebsova A, Macek M, Macek M, Arking A, Mian IS, Fried L, Hamosh A, Dey S, McIntosh I, Dietz HC. Association of human aging with a functional variant of klotho. Proceedings of the National Academy of Sciences of the United States of America. 99: 856-61. PMID 11792841 DOI: 10.1073/Pnas.022484299 |
0.546 |
|
| 2002 |
Zhang J, Clatterbuck RE, Rigamonti D, Chang DD, Dietz HC. Interaction between krit1 and icap1alpha infers perturbation of integrin beta1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation. Human Molecular Genetics. 10: 2953-60. PMID 11741838 DOI: 10.1093/Hmg/10.25.2953 |
0.331 |
|
| 2002 |
Mendell JT, Dietz HC. When the message goes awry: disease-producing mutations that influence mRNA content and performance. Cell. 107: 411-4. PMID 11719181 DOI: 10.1016/S0092-8674(01)00583-9 |
0.335 |
|
| 2001 |
Gong W, Gottlieb S, Collins J, Blescia A, Dietz H, Goldmuntz E, McDonald-McGinn DM, Zackai EH, Emanuel BS, Driscoll DA, Budarf ML. Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects. Journal of Medical Genetics. 38: E45. PMID 11748311 DOI: 10.1136/Jmg.38.12.E45 |
0.357 |
|
| 2001 |
Guo D, Hasham S, Kuang SQ, Vaughan CJ, Boerwinkle E, Chen H, Abuelo D, Dietz HC, Basson CT, Shete SS, Milewicz DM. Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14. Circulation. 103: 2461-8. PMID 11369686 DOI: 10.1161/01.Cir.103.20.2461 |
0.404 |
|
| 2001 |
Noensie EN, Dietz HC. A strategy for disease gene identification through nonsense-mediated mRNA decay inhibition. Nature Biotechnology. 19: 434-9. PMID 11329012 DOI: 10.1038/88099 |
0.335 |
|
| 2001 |
Judge DP, Biery NJ, Dietz HC. Characterization of microsatellite markers flanking FBN1: utility in the diagnostic evaluation for Marfan syndrome. American Journal of Medical Genetics. 99: 39-47. PMID 11170092 DOI: 10.1002/1096-8628(20010215)99:1<39::Aid-Ajmg1114>3.0.Co;2-3 |
0.338 |
|
| 2001 |
Eldadah ZA, Hamosh A, Biery NJ, Montgomery RA, Duke M, Elkins R, Dietz HC. Familial Tetralogy of Fallot caused by mutation in the jagged1 gene. Human Molecular Genetics. 10: 163-9. PMID 11152664 DOI: 10.1093/Hmg/10.2.163 |
0.411 |
|
| 2001 |
Medghalchi SM, Frischmeyer PA, Mendell JT, Kelly AG, Lawler AM, Dietz HC. Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability. Human Molecular Genetics. 10: 99-105. PMID 11152657 DOI: 10.1093/Hmg/10.2.99 |
0.77 |
|
| 2001 |
Bunton TE, Biery NJ, Myers L, Gayraud B, Ramirez F, Dietz HC. Phenotypic alteration of vascular smooth muscle cells precedes elastolysis in a mouse model of Marfan syndrome. Circulation Research. 88: 37-43. PMID 11139471 DOI: 10.1161/01.Res.88.1.37 |
0.364 |
|
| 2000 |
Mendell JT, Medghalchi SM, Lake RG, Noensie EN, Dietz HC. Novel Upf2p orthologues suggest a functional link between translation initiation and nonsense surveillance complexes. Molecular and Cellular Biology. 20: 8944-57. PMID 11073994 DOI: 10.1128/Mcb.20.23.8944-8957.2000 |
0.33 |
|
| 2000 |
Dietz HC, Mecham RP. Mouse models of genetic diseases resulting from mutations in elastic fiber proteins Matrix Biology. 19: 481-488. PMID 11068202 DOI: 10.1016/S0945-053X(00)00101-3 |
0.397 |
|
| 2000 |
Youil R, Toner TJ, Bull E, Bailey AL, Earl CD, Dietz HC, Montgomery RA. Enzymatic mutation detection (EMD) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease VII. Human Mutation. 16: 92-3. PMID 10874320 DOI: 10.1002/1098-1004(200007)16:1<92::Aid-Humu24>3.0.Co;2-1 |
0.333 |
|
| 2000 |
Zhang J, Clatterbuck RE, Rigamonti D, Dietz HC. Mutations in KRIT1 in familial cerebral cavernous malformations. Neurosurgery. 46: 1272-7; discussion 1. PMID 10807272 DOI: 10.1097/00006123-200005000-00064 |
0.326 |
|
| 1999 |
Frischmeyer PA, Dietz HC. Nonsense-mediated mRNA decay in health and disease. Human Molecular Genetics. 8: 1893-900. PMID 10469842 DOI: 10.1093/Hmg/8.10.1893 |
0.772 |
|
| 1999 |
Pereira L, Lee SY, Gayraud B, Andrikopoulos K, Shapiro SD, Bunton T, Biery NJ, Dietz HC, Sakai LY, Ramirez F. Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1. Proceedings of the National Academy of Sciences of the United States of America. 96: 3819-23. PMID 10097121 DOI: 10.1073/Pnas.96.7.3819 |
0.408 |
|
| 1999 |
Biery NJ, Eldadah ZA, Moore CS, Stetten G, Spencer F, Dietz HC. Revised genomic organization of FBN1 and significance for regulated gene expression. Genomics. 56: 70-7. PMID 10036187 DOI: 10.1006/Geno.1998.5697 |
0.32 |
|
| 1998 |
Montgomery RA, Geraghty MT, Bull E, Gelb BD, Johnson M, McIntosh I, Francomano CA, Dietz HC. Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome American Journal of Human Genetics. 63: 1703-1711. PMID 9837823 DOI: 10.1086/302144 |
0.399 |
|
| 1998 |
Sun X, Perlick HA, Dietz HC, Maquat LE. A mutated human homologue to yeast Upf1 protein has a dominant-negative effect on the decay of nonsense-containing mRNAs in mammalian cells Proceedings of the National Academy of Sciences of the United States of America. 95: 10009-10014. PMID 9707591 DOI: 10.1073/Pnas.95.17.10009 |
0.319 |
|
| 1998 |
Czaplinski K, Ruiz-Echevarria MJ, Paushkin SV, Han X, Weng Y, Perlick HA, Dietz HC, Ter-Avanesyan MD, Peltz SW. The surveillance complex interacts with the translation release factors to enhance termination and degrade aberrant mRNAs. Genes & Development. 12: 1665-77. PMID 9620853 DOI: 10.1101/Gad.12.11.1665 |
0.305 |
|
| 1998 |
Maron BJ, Moller JH, Seidman CE, Vincent GM, Dietz HC, Moss AJ, Towbin JA, Sondheimer HM, Pyeritz RE, McGee G, Epstein AE. Impact of Laboratory Molecular Diagnosis on Contemporary Diagnostic Criteria for Genetically Transmitted Cardiovascular Diseases: Hypertrophic Cardiomyopathy, Long-QT Syndrome, and Marfan Syndrome Circulation. 98: 1460-1471. DOI: 10.1161/01.Cir.98.14.1460 |
0.331 |
|
| 1997 |
Pereira L, Andrikopoulos K, Tian J, Lee SY, Keene DR, Ono R, Reinhardt DP, Sakai LY, Biery NJ, Bunton T, Dietz HC, Ramirez F. Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome. Nature Genetics. 17: 218-22. PMID 9326947 DOI: 10.1038/Ng1097-218 |
0.388 |
|
| 1996 |
Jin Y, Dietz HC, Montgomery RA, Bell WR, McIntosh I, Coller B, Bray PF. Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection. The Journal of Clinical Investigation. 98: 1745-54. PMID 8878424 DOI: 10.1172/Jci118973 |
0.338 |
|
| 1996 |
Perlick HA, Medghalchi SM, Spencer FA, Kendzior RJ, Dietz HC. Mammalian orthologues of a yeast regulator of nonsense transcript stability. Proceedings of the National Academy of Sciences of the United States of America. 93: 10928-32. PMID 8855285 DOI: 10.1073/Pnas.93.20.10928 |
0.317 |
|
| 1996 |
Gott VL, Laschinger JC, Cameron DE, Dietz HC, Greene PS, Gillinov AM, Pyeritz RE, Alejo DE, Fleischer KJ, Anhalt GJ, Stone CD, McKusick VA. The Marfan syndrome and the cardiovascular surgeon. European Journal of Cardio-Thoracic Surgery : Official Journal of the European Association For Cardio-Thoracic Surgery. 10: 149-58. PMID 8664013 DOI: 10.1016/S1010-7940(96)80289-2 |
0.371 |
|
| 1996 |
Sood S, Eldadah ZA, Krause WL, McIntosh I, Dietz HC. Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. Nature Genetics. 12: 209-11. PMID 8563763 DOI: 10.1038/Ng0296-209 |
0.394 |
|
| 1996 |
Dietz HC. Molecular etiology, pathogenesis and diagnosis of the Marfan syndrome Progress in Pediatric Cardiology. 5: 159-166. DOI: 10.1016/1058-9813(96)00161-0 |
0.37 |
|
| 1995 |
Dietz HC, Pyeritz RE. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders Human Molecular Genetics. 4: 1799-1809. PMID 8541880 DOI: 10.1093/Hmg/4.Suppl_1.1799 |
0.371 |
|
| 1995 |
Eldadah ZA, Brenn T, Furthmayr H, Dietz HC. Expression of a mutant human fibrillin allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype. The Journal of Clinical Investigation. 95: 874-80. PMID 7860770 DOI: 10.1172/Jci117737 |
0.357 |
|
| 1995 |
Dietz HC, Kendzior RJ. Maintenance of an open reading frame as an additional level of scrutiny during splice site selection. Nature Genetics. 8: 183-8. PMID 7842017 DOI: 10.1038/Ng1094-183 |
0.327 |
|
| 1995 |
Eldadah ZA, Grifo JA, Dietz HC. Marfan syndrome as a paradigm for transcript-targeted preimplantation diagnosis of heterozygous mutations. Nature Medicine. 1: 798-803. PMID 7585183 DOI: 10.1038/Nm0895-798 |
0.325 |
|
| 1994 |
Nogee LM, Garnier G, Dietz HC, Singer L, Murphy AM, deMello DE, Colten HR. A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds. The Journal of Clinical Investigation. 93: 1860-3. PMID 8163685 DOI: 10.1172/Jci117173 |
0.313 |
|
| 1994 |
Aoyama T, Francke U, Dietz HC, Furthmayr H. Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of marfan syndrome patients and suggest distinct pathogenetic mechanisms Journal of Clinical Investigation. 94: 130-137. PMID 8040255 DOI: 10.1172/Jci117298 |
0.314 |
|
| 1994 |
Dietz HC, Pyeritz RE. Molecular genetic approaches to the study of human cardiovascular disease. Annual Review of Physiology. 56: 763-96. PMID 8010760 DOI: 10.1146/Annurev.Ph.56.030194.003555 |
0.324 |
|
| 1994 |
Pereira L, Levran O, Ramirez F, Lynch JR, Sykes B, Pyeritz RE, Dietz HC. A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome New England Journal of Medicine. 331: 148-153. PMID 8008028 DOI: 10.1056/Nejm199407213310302 |
0.368 |
|
| 1993 |
Christiano AM, Greenspan DS, Hoffman GG, Zhang X, Tamai Y, Lin AN, Dietz HC, Hovnanian A, Uitto J. A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa. Nature Genetics. 4: 62-6. PMID 8513326 DOI: 10.1038/Ng0593-62 |
0.364 |
|
| 1993 |
Dietz HC, Valle D, Francomano CA, Kendzior RJ, Pyeritz RE, Cutting GR. The skipping of constitutive exons in vivo induced by nonsense mutations. Science (New York, N.Y.). 259: 680-3. PMID 8430317 DOI: 10.1126/Science.8430317 |
0.368 |
|
| 1993 |
Dietz HC, McIntosh I, Sakai LY, Corson GM, Chalberg SC, Pyeritz RE, Francomano CA. Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. Genomics. 17: 468-75. PMID 8406497 DOI: 10.1006/Geno.1993.1349 |
0.391 |
|
| 1993 |
McIntosh I, Hamosh A, Dietz HC. Nonsense mutations and diminished mRNA levels. Nature Genetics. 4: 219-219. PMID 8358428 DOI: 10.1038/Ng0793-219 |
0.308 |
|
| 1993 |
Aoyama T, Tynan K, Dietz HC, Francke U, Furthmayr H. Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome Human Molecular Genetics. 2: 2135-2140. PMID 8111384 DOI: 10.1093/Hmg/2.12.2135 |
0.359 |
|
| 1993 |
Corson GM, Chalberg SC, Dietz HC, Charbonneau NL, Sakai LY. Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5' end. Genomics. 17: 476-84. PMID 7691719 DOI: 10.1006/Geno.1993.1350 |
0.302 |
|
| 1993 |
Dietz HC, Saraiva JM, Pyeritz RE, Cutting GR, Francomano CA. Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains. Human Mutation. 1: 366-74. PMID 1301946 DOI: 10.1002/Humu.1380010504 |
0.375 |
|
| 1993 |
Jin Y, Dietz H, Nurden A, Bray P. Single-strand conformation polymorphism analysis is a rapid and effective method for the identification of mutations and polymorphisms in the gene for glycoprotein IIIa Blood. 82: 2281-2288. DOI: 10.1182/Blood.V82.8.2281.Bloodjournal8282281 |
0.327 |
|
| 1992 |
Dietz HC, Pyeritz RE, Puffenberger EG, Kendzior RJ, Corson GM, Maslen CL, Sakai LY, Francomano CA, Cutting GR. Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. The Journal of Clinical Investigation. 89: 1674-80. PMID 1569206 DOI: 10.1172/Jci115766 |
0.395 |
|
| 1992 |
Hayward C, Keston M, Brock DJ, Dietz HC. Fibrillin (FBN1) mutations in Marfan syndrome. Human Mutation. 1: 79. PMID 1301195 DOI: 10.1002/Humu.1380010115 |
0.341 |
|
| 1992 |
Dietz HC, Pyeritz RE, Cutting GR, Francomano CA. Mutations in the fibrillin gene and variability of the Marfan syndrome Journal of Molecular and Cellular Cardiology. 24: S76. DOI: 10.1016/0022-2828(92)91721-G |
0.334 |
|
| 1991 |
Dietz HC, Pyeritz RE, Hall BD, Cadle RG, Hamosh A, Schwartz J, Meyers DA, Francomano CA. The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3. Genomics. 9: 355-61. PMID 2004786 DOI: 10.1016/0888-7543(91)90264-F |
0.323 |
|
| 1991 |
Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenberger EG, Hamosh A, Nanthakumar EJ, Curristin SM. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature. 352: 337-9. PMID 1852208 DOI: 10.1038/352337A0 |
0.356 |
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