المؤلفون: Srivastava, Siddharth, Sahin, Mustafa, Buxbaum, Joseph, D, Berry‐kravis, Elizabeth, Soorya, Latha, Valluripalli, Thurm, Audrey, Bernstein, Jonathan, A, Asante‐otoo, Afua, Bennett, William, E, Betancur, Catalina, Brickhouse, Tegwyn, H, Passos Bueno, Maria, Rita, Chopra, Maya, Christensen, Celanie, K, Cully, Jennifer, L, Dies, Kira, Friedman, Kate, Gummere, Brittany, Holder, J. Lloyd, Jimenez‐gomez, Andres, Kerins, Carolyn, A, Khan, Omar, Kohlenberg, Teresa, Lacro, Ronald, V, Levi, Lori, A, Levy, Tess, Linnehan, Diane, Eva, Loth, Moshiree, Baharak, Neumeyer, Ann, Paul, Scott, M, Phelan, Katy, Persico, Antonio, Rapaport, Robert, Rogers, Curtis, Saland, Jeffrey, Sethuram, Swathi, Shapiro, Janine, Tarr, Phillip, I, White, Kerry, M, Wickstrom, Jordan, Williams, Kent, M, Winrow, Dana, Wishart, Brian, Kolevzon, Alexander

المساهمون: Department of Neurology, Children's Hospital Boston, Boston Children's Hospital, Harvard Medical School Boston (HMS), Icahn School of Medicine at Mount Sinai New York (MSSM), Rush University Medical Center Chicago, National Institute of Mental Health (NIMH), National Institutes of Health Bethesda, MD, USA (NIH), Stanford University, Indiana University School of Medicine, Indiana University System, Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Neuroscience Paris Seine (NPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Virginia Commonwealth University (VCU), Universidade Federal de São Paulo, Riley Children's Hospital at Indiana University Health, University of Cincinnati (UC), Cincinnati Children's Hospital Medical Center, University of Indianapolis, Baylor College of Medicine (BCM), Baylor University, Joe DiMaggio Children's Hospital Florida, USA, Texas A&M University System, National Institute of Neurological Disorders and Stroke Bethesda (NINDS), University of Massachusetts Medical School Worcester (UMASS), University of Massachusetts System (UMASS), University of Southern California (USC), Phelan-McDermid Syndrome Foundation Osprey, FL, USA, King‘s College London, Wake Forest Baptist Medical Center, Massachusetts General Hospital Boston, Florida Cancer Specialists Fort Myers, FL, Università degli Studi di Modena e Reggio Emilia = University of Modena and Reggio Emilia (UNIMORE), RCR Genetics South Carolina, USA, Access Behavior Analysis, Indianapolis, Indiana, USA., Washington University School of Medicine Saint Louis, MO, Mount Sinai School of Medicine, Department of Psychiatry-Icahn School of Medicine at Mount Sinai New York (MSSM), Northeastern Ohio Medical University (NEOMED), Emerson Health, Concord, Massachusetts, USA., National Institute of Neurological Disorders and Stroke of the National Institutes of Health (NINDS), Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institute of Mental Health (NIMH), and National Center for Advancing Translational Sciences (NCATS)

المصدر: ISSN: 1552-4825.

مصطلحات موضوعية: assessment, autism spectrum disorder, monitoring, Phelan–McDermid syndrome, SHANK3, treatment, gastroenterology, primary care, physiatry, nephrology, endocrinology, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/37392087; PUBMED: 37392087; PUBMEDCENTRAL: PMC10524678

الاتاحة: https://inserm.hal.science/inserm-04719028
https://inserm.hal.science/inserm-04719028v1/document
https://inserm.hal.science/inserm-04719028v1/file/Srivastava%20American%20J%20of%20Med%20Genetics%20Pt%20A%202023.pdf
https://doi.org/10.1002/ajmg.a.63312

المؤلفون: Crafts, Lauren, Sleeper, Lynn, Lacro, Ronald V.

المصدر: Journal of the American College of Cardiology ; volume 81, issue 8, page 1567 ; ISSN 0735-1097

الاتاحة: http://dx.doi.org/10.1016/s0735-1097(23)02011-9
https://api.elsevier.com/content/article/PII:S0735109723020119?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0735109723020119?httpAccept=text/plain

المؤلفون: Morris, Shaine A., Chair, Vice, Flyer, Jonathan N., Yetman, Anji T., Quezada, Emilio, Cappella, Elizabeth S., Dietz, Harry C., Tierney, M. Seda, Lacro, Ronald V.

المصدر: Circulation; 9/10/2024, Vol. 150 Issue 11, pe228-e254, 27p

المؤلفون: Pitcher, Alex, Spata, Enti, Emberson, Jonathan, Davies, Kelly, Halls, Heather, Holland, Lisa, Wilson, Kate, Reith, Christina, Child, Anne H, Clayton, Tim, Dodd, Matthew, Flather, Marcus, Jin, Xu Yu, Sandor, George, Groenink, Maarten, Mulder, Barbara, De Backer, Julie, Evangelista, Arturo, Forteza, Alberto, Teixido-Turà, Gisela, Boileau, Catherine, Jondeau, Guillaume, Milleron, Olivier, Lacro, Ronald V, Sleeper, Lynn A, Chiu, Hsin-Hui, Wu, Mei-Hwan, Neubauer, Stefan, Watkins, Hugh, Dietz, Hal, Baigent, Colin

المصدر: LANCET ; ISSN: 0140-6736 ; ISSN: 1474-547X

مصطلحات موضوعية: Medicine and Health Sciences, General Medicine

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/8765008; http://hdl.handle.net/1854/LU-8765008; http://dx.doi.org/10.1016/s0140-6736(22)01534-3; https://biblio.ugent.be/publication/8765008/file/8765009

الاتاحة: https://biblio.ugent.be/publication/8765008
http://hdl.handle.net/1854/LU-8765008
https://doi.org/10.1016/s0140-6736(22)01534-3
https://biblio.ugent.be/publication/8765008/file/8765009

المؤلفون: Meester, Josephina, Peeters, Silke, Van Den Heuvel, Lotte, Vandeweyer, Geert, Fransen, Erik, Cappella, Elizabeth, Dietz, Harry C., Forbus, Geoffrey, Gelb, Bruce D., Goldmuntz, Elizabeth, Hoskoppal, Arvind, Landstrom, Andrew P., Lee, Teresa, Mital, Seema, Morris, Shaine, Olson, Aaron K., Renard, Marjolijn, Roden, Dan M., Singh, Michael N., Selamet Tierney, Elif Seda, Tretter, Justin T., Van Driest, Sara L., Willing, Marcia, Verstraeten, Aline, Van Laer, Lut, Lacro, Ronald V., Loeys, Bart

المصدر: 1098-3600 ; Genetics in medicine

مصطلحات موضوعية: Human medicine

Relation: info:eu-repo/semantics/altIdentifier/isi/000800244500008

الاتاحة: https://hdl.handle.net/10067/1881690151162165141
https://repository.uantwerpen.be/docstore/d:irua:12261

المؤلفون: Pitcher, Alex, Spata, Enti, Emberson, Jonathan, Davies, Kelly, Halls, Heather, Holland, Lisa, Wilson, Kate, Reith, Christina, Child, Anne H, Clayton, Tim, Dodd, Matthew, Flather, Marcus, Jin, Xu Yu, Sandor, George, Groenink, Maarten, Mulder, Barbara, Backer, Julie De, Evangelista Masip, Arturo, Forteza, Alberto, Teixido-Tura, Gisela, Boileau, Catherine, Jondeau, Guillaume, Milleron, Olivier, Lacro, Ronald V., Sleeper, Lynn A, Chiu, Hsin-Hui, Wu, Mei-Hwan, Neubauer, Stefan, Watkins, Hugh, Dietz, Hal, Baigent, Colin, Universitat Autònoma de Barcelona

وصف الملف: application/pdf

Relation: The Lancet (British); Vol. 400 (august 2022), p. 822-831; https://ddd.uab.cat/record/272834; urn:10.1016/S0140-6736(22)01534-3; urn:oai:ddd.uab.cat:272834; urn:pmcid:PMC7613630; urn:pmc-uid:7613630; urn:pmid:36049495; urn:oai:pubmedcentral.nih.gov:7613630; urn:articleid:1474547Xv400p822

الاتاحة: https://ddd.uab.cat/record/272834

المؤلفون: Meester, Josephina A.N., Peeters, Silke, Van Den Heuvel, Lotte, Vandeweyer, Geert, Fransen, Erik, Cappella, Elizabeth, Dietz, Harry C., Forbus, Geoffrey, Gelb, Bruce D., Goldmuntz, Elizabeth, Hoskoppal, Arvind, Landstrom, Andrew P., Lee, Teresa, Mital, Seema, Morris, Shaine, Olson, Aaron K., Renard, Marjolijn, Roden, Dan M., Singh, Michael N., Selamet Tierney, Elif Seda, Tretter, Justin T., Van Driest, Sara L., Willing, Marcia, Verstraeten, Aline, Van Laer, Lut, Lacro, Ronald V., Loeys, Bart L.

المصدر: Genetics in Medicine ; volume 24, issue 5, page 1045-1053 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2021.12.015
https://api.elsevier.com/content/article/PII:S1098360021054745?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021054745?httpAccept=text/plain

المؤلفون: Quintero-Rivera, Fabiola, Xi, Qiongchao J, Keppler-Noreuil, Kim M, Lee, Ji Hyun, Higgins, Anne W, Anchan, Raymond M, Roberts, Amy E, Seong, Ihn Sik, Fan, Xueping, Lage, Kasper, Lu, Lily Y, Tao, Joanna, Hu, Xuchen, Berezney, Ronald, Gelb, Bruce D, Kamp, Anna, Moskowitz, Ivan P, Lacro, Ronald V, Lu, Weining, Morton, Cynthia C, Gusella, James F, Maas, Richard L

المصدر: Human Molecular Genetics. 24(8)

مصطلحات موضوعية: Cardiovascular, Heart Disease, Congenital Structural Anomalies, Pediatric, Genetics, 2.1 Biological and endogenous factors, Aetiology, Adolescent, Animals, Aortic Coarctation, Aortic Valve, Bicuspid Aortic Valve Disease, Child, Preschool, DNA-Binding Proteins, Ductus Arteriosus, Patent, Female, Gene Silencing, Heart Valve Diseases, Heart Ventricles, Humans, Infant, Newborn, Male, Mice, Mutagenesis, Insertional, Nuclear Matrix-Associated Proteins, RNA-Binding Proteins, Translocation, Genetic, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/621565sd

المؤلفون: John, Sheba, Young, Luciana T, Lacro, Ronald V, Hoskoppal, Arvind, Ou, Zhining, Presson, Angela P, Johnson, Joyce T, Andrade, Lauren, Minich, L LuAnn, Menon, Shaji

المصدر: Maine Medical Center

مصطلحات موضوعية: Cardiac phenotype, Extracardiac manifestations, Marfan syndrome, Cardiology, Pediatrics

Relation: https://knowledgeconnection.mainehealth.org/mmc/3679; https://pubmed.ncbi.nlm.nih.gov/38727826/

الاتاحة: https://knowledgeconnection.mainehealth.org/mmc/3679
https://pubmed.ncbi.nlm.nih.gov/38727826/

المؤلفون: Levine, Jami C., Colan, Steven, Trachtenberg, Felicia, Marcus, Edward, Ferguson, Matthew, Parthiban, Anitha, Taylor, Carolyn, Dragulescu, Andreea, Goot, Benjamin, Lacro, Ronald V., McFarland, Carol, Narasimhan, Shanthi, O'Connor, Matthew, Schamberger, Marcus, Srivistava, Shubhika, Taylor, Michael, Nathan, Meena

المصدر: Cardiology in the Young; Mar2024, Vol. 34 Issue 3, p570-575, 6p

المؤلفون: Stephens, Sara, Shalhub, Sherene, Dodd, Nicholas, Oda, Seitaro, Kancheria, Kalyan, Doan, Tam, Weigand, Justin, Zachariah, Justin P., Asch, Federico M., Beecroft, Taylor, Cecchi, Alana, Shittu, Teniola, Preiss, Liliana, Lemaire, Scott A., Devereux, Richard B., Pyeritz, Reed E., Holmes, Kathryn W., Roman, Mary J., Lacro, Ronald V., Shohet, Ralph, Krishnamurthy, Rajesh, Eagle, Kim, Byers, Peter H., Milewicz, Dianna M., Morris, Shaine A.

المصدر: Journal of the American College of Cardiology ; volume 75, issue 11, page 1621 ; ISSN 0735-1097

الاتاحة: http://dx.doi.org/10.1016/s0735-1097(20)32248-8
https://api.elsevier.com/content/article/PII:S0735109720322488?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0735109720322488?httpAccept=text/plain

المؤلفون: Stephens, Sara B, Shalhub, Sherene, Dodd, Nicholas, Li, Jesse, Huang, Michael, Oda, Seitaro, Kancherla, Kalyan, Doan, Tam T, Prakash, Siddharth K, Weigand, Justin D, Asch, Federico M, Beecroft, Taylor, Cecchi, Alana, Shittu, Teniola, Preiss, Liliana, LeMaire, Scott A, Devereux, Richard B, Pyeritz, Reed E, Holmes, Kathryn W, Roman, Mary J, Lacro, Ronald V, Shohet, Ralph V, Krishnamurthy, Rajesh, Eagle, Kim, Byers, Peter, Milewicz, Dianna M, Morris, Shaine A

المصدر: Journal Articles

مصطلحات موضوعية: Humans, Male, Middle Aged, Adult, Female, Ehlers-Danlos Syndrome, Type IV, Arteries, Aortic Dissection, Loeys-Dietz Syndrome, Cardiology, Cardiovascular Diseases, Diseases, Internal Medicine, Medical Specialties, Medicine and Health Sciences

وصف الملف: application/pdf

Relation: https://digitalcommons.library.tmc.edu/uthmed_docs/714; https://digitalcommons.library.tmc.edu/context/uthmed_docs/article/1699/viewcontent/JAH3_12_e029518.pdf

الاتاحة: https://digitalcommons.library.tmc.edu/uthmed_docs/714
https://digitalcommons.library.tmc.edu/context/uthmed_docs/article/1699/viewcontent/JAH3_12_e029518.pdf

المؤلفون: Dunne, Emma C., Lacro, Ronald V., Flyer, Jonathan N.

المصدر: Current Opinion in Pediatrics ; volume 35, issue 5, page 538-545 ; ISSN 1040-8703 1531-698X

الاتاحة: http://dx.doi.org/10.1097/mop.0000000000001276
https://journals.lww.com/10.1097/MOP.0000000000001276

المؤلفون: Levine, Jami C., Colan, Steven, Trachtenberg, Felicia, Marcus, Edward, Ferguson, Matthew, Parthiban, Anitha, Taylor, Carolyn, Dragulescu, Andreea, Goot, Benjamin, Lacro, Ronald V., McFarland, Carol, Narasimhan, Shanthi, O’Connor, Matthew, Schamberger, Marcus, Srivistava, Shubhika, Taylor, Michael, Nathan, Meena

المصدر: Cardiology in the Young ; volume 34, issue 3, page 570-575 ; ISSN 1047-9511 1467-1107

الاتاحة: http://dx.doi.org/10.1017/s1047951123003037
https://www.cambridge.org/core/services/aop-cambridge-core/content/view/S1047951123003037

المؤلفون: Pierpont, Mary Ella, Brueckner, Martina, Chung, Wendy K., Garg, Vidu, Lacro, Ronald V., McGuire, Amy L., Mital, Seema, Priest, James R., Pu, William T., Roberts, Amy, Ware, Stephanie M., Gelb, Bruce D., Russell, Mark W.

المصدر: Circulation ; volume 138, issue 21 ; ISSN 0009-7322 1524-4539

الاتاحة: https://doi.org/10.1161/cir.0000000000000606
https://www.ahajournals.org/doi/full/10.1161/CIR.0000000000000606

المؤلفون: Flyer, Jonathan N., Goudie, Brett W., Greenstein, Emily P., Toro-Salazar, Olga H., Nikolli, Klejda, Sleeper, Lynn A., Clarke, Christopher J., Hidestrand, Pip, Karnik, Ruchika, O'Brien, Sharon E., Zilberman, Mark V., Lacro, Ronald V.

المصدر: Progress in Pediatric Cardiology ; volume 66, page 101543 ; ISSN 1058-9813

الاتاحة: http://dx.doi.org/10.1016/j.ppedcard.2022.101543
https://api.elsevier.com/content/article/PII:S1058981322000650?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1058981322000650?httpAccept=text/plain

المؤلفون: Prakash, Ashwin, Adlakha, Himanshu, Rabideau, Nicole, Hass, Cara J., Morris, Shaine A., Geva, Tal, Gauvreau, Kimberlee, Singh, Michael N., Lacro, Ronald V.

المصدر: Circulation ; volume 133, issue 7 ; ISSN 0009-7322 1524-4539

الاتاحة: http://dx.doi.org/10.1161/circulationaha.115.020200
https://www.ahajournals.org/doi/full/10.1161/CIRCULATIONAHA.115.020200

المؤلفون: Prakash, Ashwin, Adlakha, Himanshu, Hass, Cara, Morris, Shaine A, Geva, Tal, Lacro, Ronald V

Relation: http://www.jcmr-online.com/content/16/S1/O48

الاتاحة: http://www.jcmr-online.com/content/16/S1/O48

المؤلفون: Tinkle, Brad T.¹ bradttinkle@gmail.com, Lacro, Ronald V.², Burke, Leah W.³

المصدر: Pediatrics. Apr2023, Vol. 151 Issue 4, p1-18. 18p.

مصطلحات موضوعية: *MARFAN syndrome, *MORTALITY, *DISEASES, *CLINICAL supervision, *QUALITY of life, *HEALTH care teams, *DISEASE complications, *SYMPTOMS, *CHILDREN, *ADOLESCENCE

المؤلفون: Pitcher, Alex, Emberson, Jonathan, Lacro, Ronald V, Sleeper, Lynn A, Stylianou, Mario, Mahony, Lynn, Pearson, Gail D, Groenink, Maarten, Mulder, Barbara J, Zwinderman, Aeilko H, De Backer, Julie, De Paepe, Anne, Arbustini, Eloisa, Erdem, Guliz, Jin, Xu Yu, Flather, Marcus D, Mullen, Michael J, Child, Anne H, Forteza, Alberto, Evangelista, Arturo, Chiu, Hsin-Hui, Wu, Mei-Hwan, Sandor, George, Bhatt, Ami B, Creager, Mark A, Devereux, Richard B, Loeys, Bart, Forfar, J Colin, Neubauer, Stefan, Watkins, Hugh, Boileau, Catherine, Jondeau, Guillaume, Dietz, Harry C, Baigent, Colin

المصدر: AMERICAN HEART JOURNAL ; ISSN: 0002-8703

مصطلحات موضوعية: Medicine and Health Sciences, THERAPY, ATENOLOL, PROGRESSION, ANEURYSM, CHILDREN, AORTIC-ROOT DILATION, CLINICAL-TRIAL, YOUNG-ADULTS, BETA-BLOCKER, LOSARTAN

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/6835858; http://hdl.handle.net/1854/LU-6835858; http://dx.doi.org/10.1016/j.ahj.2015.01.011; https://biblio.ugent.be/publication/6835858/file/6835898

الاتاحة: https://biblio.ugent.be/publication/6835858
http://hdl.handle.net/1854/LU-6835858
https://doi.org/10.1016/j.ahj.2015.01.011
https://biblio.ugent.be/publication/6835858/file/6835898