Works matching Marfan syndrome and genetics

Results: 215

Marfan syndrome: biological basis and genetics.

Published in:

British Journal of Cardiac Nursing, 2013, v. 8, n. 6, p. 284, doi. 10.12968/bjca.2013.8.6.284

By:

Bentley, Peter

Publication type:

Article

Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation.

Published in:

Clinical Genetics, 2010, v. 77, n. 2, p. 177, doi. 10.1111/j.1399-0004.2009.01287.x

By:

Yoo, E.-H.;
Woo, H.;
Ki, C.-S.;
Lee, H. J.;
Kim, D.-K.;
Kang, I.-S.;
Park, P.;
Sung, K.;
Lee, C. S.;
Chung, T.-Y.;
Moon, J. R.;
Han, H.;
Lee, S.-T.;
Kim, J.-W.

Publication type:

Article

Affected-embryo-based SNP haplotyping with NGS for the preimplantation genetic testing of Marfan syndrome.

Published in:

Systems Biology in Reproductive Medicine, 2021, v. 67, n. 4, p. 298, doi. 10.1080/19396368.2021.1926574

By:

Deng, Yu;
Ou, Zhanhui;
Li, Ru;
Chen, Zhiheng;
Liang, Peiling;
Sun, Ling

Publication type:

Article

Genetic testing in Marfan syndrome.

Published in:

British Journal of Hospital Medicine (17508460), 2016, v. 77, n. 1, p. 38, doi. 10.12968/hmed.2016.77.1.38

By:

Child, Anne H.;
Aragon-Martin, Jose A.;
Sage, Karen

Publication type:

Article

Multi-Scale Biomechanical Remodeling in Aging and Genetic Mutant Murine Mitral Valve Leaflets: Insights into Marfan Syndrome.

Published in:

PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0044639

By:

Gould, Russell A.;
Sinha, Ravi;
Aziz, Hamza;
Rouf, Rosanne;
Dietz III, Harry C.;
Judge, Daniel P.;
Butcher, Jonathan;
Secomb, Timothy W.

Publication type:

Article

The Importance of Genetic Testing in the Clinical Management of Patients With Marfan Syndrome and Related Disorders: In Reply.

Published in:

2008

By:

Schmidtke, Jörg;
Arslan-Kirchner, Mine;
von Kodolitsch, Yskert

Publication type:

Letter

The Importance of Genetic Testing in the Clinical Management of Patients With Marfan Syndrome and Related Disorders: Hypermobility Syndrome.

Published in:

2008

By:

Schilling, Fritz

Publication type:

Letter

Preimplantation genetic diagnosis of human embryos for Marfan's syndrome.

Published in:

Journal of Assisted Reproduction & Genetics, 1998, v. 15, n. 5, p. 281, doi. 10.1023/A:1022540410290

By:

Blaszczyk, A.;
Tang, Y.X.;
Dietz, H. C.;
Adler, A.;
Berkeley, A. S.;
Krey, L. C.;
Grifo, J. A.

Publication type:

Article

Preimplantation Genetic Diagnosis of Marfan's Syndrome Using Single Cell PCR and Restriction...

Published in:: Journal of Assisted Reproduction & Genetics, 1997, v. 14, n. 8, p. 441
Publication type:: Article

Genetik und Prävention am Beispiel genetischer Aortensyndrome (GAS) und des Marfan-Syndroms.

Published in:

Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz, 2015, v. 58, n. 2, p. 146, doi. 10.1007/s00103-014-2093-2

By:

von Kodolitsch, Y.;
Blankart, C. R.;
Vogler, M.;
Kallenbach, K.;
Robinson, P. N.

Publication type:

Article

De Novo Balanced Translocations Disrupting the FBN1 Gene Diagnosed by Genome Sequencing: An Uncommon Cause of Marfan Syndrome Modifying Genetic Counseling.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63923

By:

Racine, C.;
Callier, P.;
Touraine, R.;
Vitobello, A.;
Hanna, N.;
Arnaud, P.;
Jondeau, G.;
Boileau, C.;
Thauvin‐Robinet, C.;
Creveaux, I.;
Gatinois, V.;
Willems, M.;
Faivre, L.

Publication type:

Article

Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 1, p. 1, doi. 10.1007/s10038-006-0078-1

By:

Mizuguchi, Takeshi;
Matsumoto, Naomichi

Publication type:

Article

NGS analysis in Marfan syndrome spectrum: Combination of rare and common genetic variants to improve genotype-phenotype correlation analysis.

Published in:

PLoS ONE, 2019, v. 14, n. 9, p. 1, doi. 10.1371/journal.pone.0222506

By:

Gentilini, Davide;
Oliveri, Antonino;
Fazia, Teresa;
Pini, Alessandro;
Marelli, Susan;
Bernardinelli, Luisa;
Di Blasio, Anna Maria

Publication type:

Article

Allelic Frequencies of FBN1 Gene Polymorphisms and Genetic Analysis of Italian Families with Marfan Syndrome.

Published in:

Human Heredity, 2000, v. 50, n. 3, p. 175, doi. 10.1159/000022910

By:

Mottes, Monica;
Mirandola, Stefania;
Rigatelli, Federica;
Zolezzi, Francesca;
Lisi, Veronica;
Gordon, Derek;
Pignatti, Pier Franco

Publication type:

Article

Clinical and genetic screening in a large Iranian family with Marfan syndrome: A case study.

Published in:

Health Science Reports, 2023, v. 6, n. 10, p. 1, doi. 10.1002/hsr2.1647

By:

Vafaeie, Farzane;
Miri Karam, Zahra;
Yari, Abolfazl;
Safarpour, Hossein;
Kazemi, Tooba;
Etesam, Shokoofeh;
Mohammadpour, Mojtaba;
Miri‐Moghaddam, Ebrahim

Publication type:

Article

Pre-implantation genetic testing for Marfan syndrome using mini-sequencing.

Published in:

Journal of Obstetrics & Gynaecology, 2022, v. 42, n. 7, p. 2846, doi. 10.1080/01443615.2022.2109957

By:

Piyamongkol, Sirivipa;
Makonkawkeyoon, Krit;
Shotelersuk, Vorasuk;
Sreshthaputra, Opas;
Pantasri, Tawiwan;
Sittiwangkul, Rekwan;
Tongsong, Theera;
Piyamongkol, Wirawit

Publication type:

Article

Application of Whole Exome Sequencing and Functional Annotations to Identify Genetic Variants Associated with Marfan Syndrome.

Published in:

Journal of Personalized Medicine, 2022, v. 12, n. 2, p. N.PAG, doi. 10.3390/jpm12020198

By:

Lin, Min-Rou;
Chang, Che-Mai;
Ting, Jafit;
Chang, Jan-Gowth;
Chou, Wan-Hsuan;
Huang, Kuei-Jung;
Cheng, Gloria;
Chang, Hsiao-Huang;
Chang, Wei-Chiao

Publication type:

Article

Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome.

Published in:

Genes, 2022, v. 13, n. 6, p. 1027, doi. 10.3390/genes13061027

By:

Jimenez, Yanireth;
Paulsen, Cesar;
Turner, Eduardo;
Iturra, Sebastian;
Cuevas, Oscar;
Lay-son, Guillermo;
Repetto, Gabriela M.;
Rojas, Marcelo;
Calderon, Juan F.

Publication type:

Article

Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability.

Published in:

Genes, 2020, v. 11, n. 5, p. 574, doi. 10.3390/genes11050574

By:

Grange, Thomas;
Aubart, Mélodie;
Langeois, Maud;
Benarroch, Louise;
Arnaud, Pauline;
Milleron, Olivier;
Eliahou, Ludivine;
Gross, Marie-Sylvie;
Hanna, Nadine;
Boileau, Catherine;
Gouya, Laurent;
Jondeau, Guillaume

Publication type:

Article

Uncertainty Management and Communication Preferences Related to Genetic Relativism Among Families Affected by Down Syndrome, Marfan Syndrome, and Neurofibromatosis.

Published in:

Health Communication, 2012, v. 27, n. 7, p. 663, doi. 10.1080/10410236.2011.629408

By:

Parrott, Roxanne;
Peters, KathrynF.;
Traeder, Tara

Publication type:

Article

Genetic Dissection of Marfan Syndrome and Related Connective Tissue Disorders: An Update 2012.

Published in:

Molecular Syndromology, 2012, v. 3, n. 2, p. 47, doi. 10.1159/000339441

By:

Hoffjan, S.

Publication type:

Article

The Molecular Genetics of Marfan Syndrome.

Published in:

International Journal of Medical Sciences, 2021, v. 18, n. 13, p. 2752, doi. 10.7150/ijms.60685

By:

Qiu Du;
Dingding Zhang;
Yue Zhuang;
Qiongrong Xia;
Taishen Wen;
Haiping Jia

Publication type:

Article

New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.

Published in:

BMC Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2156-15-74

By:

Ren-Qiang Yang;
Jabbari, Javad;
Xiao-Shu Cheng;
Jabbari, Reza;
Nielsen, Jonas B.;
Risgaard, Bjarke;
Xu Chen;
Sajadieh, Ahmad;
Haunsø, Stig;
Hastrup Svendsen, Jesper;
Olesen, Morten S.;
Tfelt-Hansen, Jacob

Publication type:

Article

Ocular, cardiovascular, and genetic characteristics and their associations in children with Marfan syndrome and related fibrillinopathies.

Published in:

Graefe's Archive of Clinical & Experimental Ophthalmology, 2023, v. 261, n. 11, p. 3315, doi. 10.1007/s00417-023-06177-z

By:

Guo, Dongwei;
Liu, Liyan;
Ng, Kit Yee;
Cao, Qianzhong;
Zheng, Danying;
Zhang, Xinyu;
Jin, Guangming

Publication type:

Article

Clinical, pathological and molecular genetic findings in a case of neonatal Marfan syndrome.

Published in:

Acta Paediatrica, 1999, v. 88, n. 1, p. 98, doi. 10.1111/j.1651-2227.1999.tb01277.x

By:

Bresters, D;
Nikkels, PGJ;
Meijboom, EJM;
Hoorntje, TM;
Pals, G;
Beemer, FA

Publication type:

Article

Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS).

Published in:

2002

By:

Loeys, B.;
Nuytinck, L.;
Van Acker, P.;
Walraedt, S.;
Bonduelle, M.;
Sermon, K.;
Hamel, B.;
Sanchez, A.;
Messiaen, L.;
De Paepe, A.

Publication type:

journal article

Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00472-w

By:

Murdock, David R.;
Guo, Dong-chuan;
DePaolo, John S.;
Schwarze, Ulrike;
Duan, Xue-yan;
Cecchi, Alana C.;
Marin, Isabella C.;
Tang, YingYing;
Chong, Jessica X.;
Bamshad, Michael J.;
Leppig, Kathleen A.;
Byers, Peter H.;
Damrauer, Scott M.;
Milewicz, Dianna M.

Publication type:

Article

Comparison of the background, needs, and expectations for genetic counseling of adults with experience with Down syndrome, Marfan syndrome, and neurofibromatosis.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 684, doi. 10.1002/ajmg.a.33863

By:

Peters, Kathryn F.;
Petrill, Stephen A.

Publication type:

Article

First report of the genetic background of Marfan syndrome in Polish patients.

Published in:

Polish Archives of Internal Medicine, 2013, v. 123, n. 11, p. 646, doi. 10.20452/pamw.1986

By:

Wypasek, Ewa;
Potaczek, Daniel P.;
Stąpor, Renata;
Coucke, Paul J.;
De Backer, Julie;
De Paepe, Anne M.;
Undas, Anetta

Publication type:

Article

Locating genetic knowledge: Picturing Marfan syndrome and its traveling constituencies.

Published in:

Science, Technology & Human Values, 1998, v. 23, n. 1, p. 71, doi. 10.1177/016224399802300104

By:

Heath, Deborah

Publication type:

Article

Quantitative measurement of dural ectasia: associations with clinical and genetic characteristics in Marfan syndrome.

Published in:

European Spine Journal, 2024, v. 33, n. 7, p. 2561, doi. 10.1007/s00586-024-08252-3

By:

Vornetti, Gianfranco;
Vara, Giulio;
Baroni, Maria Chiara;
Mariucci, Elisabetta;
Donti, Andrea;
Cirillo, Luigi;
Ratti, Stefano;
Cantoni, Elena;
Venturi, Greta;
Tonon, Caterina;
Lodi, Raffaele;
Spinardi, Luca

Publication type:

Article

1例Gitelman综合征合并马方综合征患儿的临床资料及基因检测分析.

Published in:

Shandong Medical Journal, 2025, v. 65, n. 3, p. 126, doi. 10.3969/j.issn.1002-266X.2025.03.026

By:

孙文慧;
刘玲;
崔振琼;
霍美玲

Publication type:

Article

Preimplantation genetic testing for Marfan syndrome.

Published in:

Molecular Human Reproduction, 1996, v. 2, n. 9, p. 713, doi. 10.1093/molehr/2.9.713

By:

Harton, G.L.;
Tsipouras, P.;
Sisson, M.E.;
Starr, K.M.;
Mahoney, B.S.;
Fugger, E.F.;
Schulman, J.D.;
Kilpatrick, M.W.;
Levinson, G.;
Black, S.H.

Publication type:

Article

A New Mouse Model for Marfan Syndrome Presents Phenotypic Variability Associated with the Genetic Background and Overall Levels of Fbn1 Expression.

Published in:

PLoS ONE, 2010, v. 5, n. 11, p. 1, doi. 10.1371/journal.pone.0014136

By:

Lima, Bruno L.;
Santos, Enrico J. C.;
Fernandes, Gustavo R.;
Merkel, Christian;
Mello, Marco R. B.;
Gomes, Juliana P. A.;
Soukoyan, Marina;
Kerkis, Alexandre;
Massironi, Silvia M. G.;
Visintin, José A.;
Pereira, Lygia V.

Publication type:

Article

Marfan syndrome: biological basis and genetics.

Published in:

2013

By:

Bentley, Peter

Publication type:

Journal Article

Genetic linkage in Marfan syndrome, ectopia lentis and contractural arachnodactyly.

Published in:: 1992
Publication type:: Abstract

Preimplantation Genetic Diagnosis in Marfan Syndrome.

Published in:

Case Reports in Obstetrics & Gynecology, 2013, p. 1, doi. 10.1155/2013/542961

By:

Vlahos, N. F.;
Triantafyllidou, O.;
Vitoratos, N.;
Grigoriadis, C.;
Creatsas, G.

Publication type:

Article

Targeted next‐generation sequencing reveals the genetic mechanism of Chinese Marfan syndrome cohort with ocular manifestation.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 7, p. 1, doi. 10.1002/mgg3.2482

By:

Han, Dongming;
Wang, Ziwei;
Chen, Xuan;
Liu, Zijia;
Yang, Zhengtao;
Chen, Yixi;
Tian, Peiyi;
Li, Jiankang;
Wang, ZhuoShi

Publication type:

Article

Morphological and genetic aspects of Marfan Syndrome as demonstrated by a case of death during pregnancy with the discovery of two de novo missense mutations in the FBN1 gene.

Published in:

Anthropological Review, 2023, v. 86, n. 4, p. 63, doi. 10.18778/1898-6773.86.4.05

By:

Aquila, Isabella;
Sacco, Matteo Antonio;
Boca, Silvia;
Malanga, Donatella;
Viglietto, Giuseppe;
Abenavoli, Ludovico;
Maesani, Martino;
Varotto, Elena;
Galassi, Francesco Maria;
Ricci, Pietrantonio

Publication type:

Article

Thoracic Aortic Dissection.

Published in:

Texas Heart Institute Journal, 2012, v. 39, n. 6, p. 838

By:

Choi, Justin Chin-Bong;
LeMaire, Scott A.

Publication type:

Article

Recurrent and founder mutations in the Netherlands.

Published in:

Netherlands Heart Journal, 2010, v. 18, n. 2, p. 85, doi. 10.1007/BF03091743

By:

Aalberts, J.;
Schuurman, A.;
Pals, G.;
Hamel, B.;
Bosman, G.;
Hilhorst-Hofstee, Y.;
Barge-Schaapveld, D.;
Mulder, B.;
Berg, M.;
Tintelen, J.

Publication type:

Article

Living with Marfan syndrome III. Quality of life and reproductive planning.

Published in:

Clinical Genetics, 2002, v. 62, n. 2, p. 110, doi. 10.1034/j.1399-0004.2002.620203.x

By:

Peters, KF;
Kong, F;
Hanslo, M;
Biesecker, BB

Publication type:

Article

Traboulsi syndrome.

Published in:

2025

By:

Castro, Daniel de;
Pujol-Pocull, David;
Domínguez, Fernando

Publication type:

Abstract

Orthodontic Perspective on Marfan Syndrome: A Unique Case Report.

Published in:

Journal of Clinical & Diagnostic Research, 2023, v. 17, n. 11, p. 1, doi. 10.7860/JCDR/2023/65591.18668

By:

SIL, SHILADITYA;
KERTHNA, D.;
GHOSH, SHUBHANKAR;
SAHA, NILANJANA

Publication type:

Article

Living with Marfan syndrome: coping with stigma.

Published in:

Clinical Genetics, 2005, v. 68, n. 1, p. 6, doi. 10.1111/j.1399-0004.2005.00446.x

By:

Peters, K. F.;
Apse, K. A.;
Blackford, A.;
McHugh, B.;
Michalic, D.;
Biesecker, B. B.

Publication type:

Article

Molecular genetic analysis of connective tissue disorders.

Published in:

2005

By:

Mayer K;
Marschall C

Publication type:

Journal Article

Molekulargenetische Diagnostik von Bindegewebserkrankungen.

Published in:

Journal of Laboratory Medicine / Laboratoriums Medizin, 2005, v. 29, n. 3, p. 176, doi. 10.1515/JLM.2005.026

By:

Mayer, Karin;
Marschall, Christoph

Publication type:

Article

Genotype-phenotype spectrum and prognosis of early-onset Marfan syndrome.

Published in:

BMC Pediatrics, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12887-023-04357-8

By:

Kemezyte, Aurelija;
Gegieckiene, Ruta;
Burnyte, Birute

Publication type:

Article

CARDIOVASCULAR DISEASE AND INCREASED PREVALENCE OF MORBIDITY AND MORTALITY IN MARFAN SYNDROME.

Published in:

SEA: Practical Application of Science, 2022, v. 10, n. 28, p. 25

By:

ADUMITRACHIOAIEI, Heidrun;
PAPANIKOLAOU, Paraskevi;
LUCA, Alina-Costina

Publication type:

Article

Familial Dissecting Aortic Aneurysm in the Absence of Marfan's Syndrome with Review of the Literature:.

Published in:

Vascular Surgery, 1990, v. 24, n. 6, p. 411, doi. 10.1177/153857449002400607

By:

Kerstein, Morris D.;
Kiev, Jonathan;
Levelo, Barry M.

Publication type:

Article