Works matching DE "MARFAN syndrome"

Results: 1401

The Role of Intra-Follicular Shear Forces in Hidradenitis Suppurativa.

Published in:

Skin Pharmacology & Physiology, 2023, v. 36, n. 6, p. 302, doi. 10.1159/000536067

By:

Stancic, Bor Hrvatin;
Boer, Jurr;
Dolenc-Voljč, Mateja;
Jemec, Gregor B.E.

Publication type:

Article

Understanding the links between snoring, OSA and aortic root pathologies in Marfan syndrome.

Published in:

Sleep & Biological Rhythms, 2023, v. 21, n. 1, p. 5, doi. 10.1007/s41105-022-00432-2

By:

Edwards, Bradley A.;
Joosten, Simon A.

Publication type:

Article

Snoring and aortic dimension in Marfan syndrome.

Published in:

Sleep & Biological Rhythms, 2023, v. 21, n. 1, p. 33, doi. 10.1007/s41105-022-00413-5

By:

Sowho, Mudiaga;
Potocki, Mariah;
Sgambati, Frank;
Neptune, Enid

Publication type:

Article

Comparison of long-term outcomes of the Bentall procedure between patients with and without Marfan syndrome.

Published in:

Heart & Vessels, 2025, v. 40, n. 2, p. 181, doi. 10.1007/s00380-024-02453-y

By:

Okugi, Satoshi;
Saito, Satoshi;
Kikuchi, Chizuo;
Hamasaki, Azumi;
Niinami, Hiroshi

Publication type:

Article

Variable severity of cardiovascular phenotypes in patients with an early-onset form of Marfan syndrome harboring FBN1 mutations in exons 24-32.

Published in:

Heart & Vessels, 2016, v. 31, n. 10, p. 1717, doi. 10.1007/s00380-016-0793-2

By:

Maeda, Jun;
Kosaki, Kenjiro;
Shiono, Junko;
Kouno, Kazuki;
Aeba, Ryo;
Yamagishi, Hiroyuki

Publication type:

Article

Histopathology of aortic complications in bicuspid aortic valve versus Marfan syndrome: relevance for therapy?

Published in:

Heart & Vessels, 2016, v. 31, n. 5, p. 795, doi. 10.1007/s00380-015-0703-z

By:

Grewal, Nimrat;
Franken, Romy;
Mulder, Barbara;
Goumans, Marie-José;
Lindeman, Johannes;
Jongbloed, Monique;
DeRuiter, Marco;
Klautz, Robert;
Bogers, Ad;
Poelmann, Robert;
Groot, Adriana

Publication type:

Article

High incidence and severity of periodontitis in patients with Marfan syndrome in Japan.

Published in:

Heart & Vessels, 2015, v. 30, n. 5, p. 692, doi. 10.1007/s00380-013-0434-y

By:

Suzuki, Jun-ichi;
Imai, Yasushi;
Aoki, Mieko;
Fujita, Daishi;
Aoyama, Norio;
Tada, Yuko;
Akazawa, Hiroshi;
Izumi, Yuichi;
Isobe, Mitsuaki;
Komuro, Issei;
Nagai, Ryozo;
Hirata, Yasunobu

Publication type:

Article

Impairment of flow-mediated dilation correlates with aortic dilation in patients with Marfan syndrome.

Published in:

Heart & Vessels, 2014, v. 29, n. 4, p. 478, doi. 10.1007/s00380-013-0393-3

By:

Takata, Munenori;
Amiya, Eisuke;
Watanabe, Masafumi;
Omori, Kazuko;
Imai, Yasushi;
Fujita, Daishi;
Nishimura, Hiroshi;
Kato, Masayoshi;
Morota, Tetsuro;
Nawata, Kan;
Ozeki, Atsuko;
Watanabe, Aya;
Kawarasaki, Shuichi;
Hosoya, Yumiko;
Nakao, Tomoko;
Maemura, Koji;
Nagai, Ryozo;
Hirata, Yasunobu;
Komuro, Issei

Publication type:

Article

A giant cause of a low pressure headache.

Published in:

2013

By:

Miller, S;
Overell, J;
Jampana, R;
Gorrie, G;
Tyagi, A;
Gilles, C;
McKenzie, M

Publication type:

Abstract

Congenital intrathoracic stomach can be safely managed laparoscopically.

Published in:

2020

By:

Gupta, Alisha;
Zia, Bushra;
Mullassery, Dhanya;
De Coppi, Paolo;
Giuliani, Stefano;
Curry, Joseph I.;
Cross, Kate M.

Publication type:

journal article

Pediatric bilateral spontaneous pneumothoraces in monozygotic twins.

Published in:

2012

By:

Hofmann, Luke;
Hetz, Stephen

Publication type:

Report

Cervical kyphosis correction in Marfan syndrome: our experience and literature review.

Published in:

Child's Nervous System, 2024, v. 40, n. 2, p. 495, doi. 10.1007/s00381-023-06046-4

By:

Kumarasamy, Sivaraman;
Sawarkar, Dattaraj P.;
Singh, Pankaj Kumar;
Kumar, Rajinder;
Chandra, Poodipedi Sarat;
Kale, Shashank Sharad

Publication type:

Article

Early diagnosis of lateral meningocele syndrome in an infant without neurological symptoms based on genomic analysis.

Published in:

Child's Nervous System, 2022, v. 38, n. 3, p. 659, doi. 10.1007/s00381-021-05232-6

By:

Yamada, Mamiko;
Arimitsu, Takeshi;
Suzuki, Hisato;
Miwa, Tomoru;
Kosaki, Kenjiro

Publication type:

Article

Molecular pathogenesis and management strategies of ectopia lentis.

Published in:

Eye (0950-222X), 2014, v. 28, n. 2, p. 162, doi. 10.1038/eye.2013.274

By:

Chandra, A;
Charteris, D

Publication type:

Article

The subluxated lens: a patient's perspective.

Published in:

2006

By:

Soni, M.;
Mughal, M.;
Kirkby, G.

Publication type:

Letter

Management of a pregnant woman with Marfan syndrome and aortic root and aberrant right subclavian artery aneurysm: a case report.

Published in:

European Heart Journal Case Reports, 2024, v. 8, n. 8, p. 1, doi. 10.1093/ehjcr/ytae411

By:

Voges, Inga;
Hoffmann, Ulrike;
Attman, Tim;
Uebing, Anselm

Publication type:

Article

Mitral valve transcatheter edge-to-edge repair as a bridge to treat aortic dissecting aneurysm in a case of Marfan syndrome: a case report.

Published in:

European Heart Journal Case Reports, 2024, v. 8, n. 7, p. 1, doi. 10.1093/ehjcr/ytae338

By:

Kawamoto, Takanori;
Kogure, Tomohito;
Koyanagi, Chihiro;
Ashihara, Kyomi;
Yamaguchi, Junichi

Publication type:

Article

Atrial septal defect becoming clinically evident after cardiac surgery for annuloaortic ectasia: a case report.

Published in:

European Heart Journal Case Reports, 2024, v. 8, n. 7, p. 1, doi. 10.1093/ehjcr/ytae299

By:

Meguro, Kentaro;
Koitabashi, Toshimi;
Fujita, Teppei;
Ako, Junya

Publication type:

Article

In vivo optical coherence tomography visualisation of coronary artery embolism caused by BioGlue in a middle-aged woman with Marfan syndrome who underwent the Bentall procedure: a case report.

Published in:

European Heart Journal Case Reports, 2023, v. 7, n. 11, p. 1, doi. 10.1093/ehjcr/ytad585

By:

Hamaguchi, Yukihiro;
Enomoto, Soichiro;
Kondo, Hirokazu;
Tamura, Toshihiro

Publication type:

Article

Marfan Syndrome: Clinical, Surgical, and Anesthetic Considerations.

Published in:

2014

By:

Castellano, José M.;
Silvay, George;
Castillo, Javier G.;
Castellano, José M

Publication type:

journal article

A case of coexistence of Marfan and Ehlers-Danlos syndromes in a 15-year-old boy.

Published in:

2014

By:

Swacha, Zbigniew;
Rutkowska-Sak, Lidia;
Gazda, Agnieszka

Publication type:

Case Study

Marfan syndrome - typical musculoskeletal abnormalities, rare occurrence in children.

Published in:

Rheumatology / Reumatologia, 2014, v. 52, n. 6, p. 402, doi. 10.5114/reum.2014.47236

By:

Żuber, Zbigniew;
Solakiewicz, Anna;
Turowska-Heydel, Dorota;
Sobczyk, Małgorzata

Publication type:

Article

Swallowing and quality of life in individuals with Marfan syndrome: a cross-sectional study.

Published in:

2022

By:

Baylow, Hope E.;
Esfandiarei, Mitra;
Ratiu, Ileana

Publication type:

journal article

Executive function and quality of life in individuals with Marfan syndrome.

Published in:

2018

By:

Ratiu, Ileana;
Virden, Thomas B.;
Baylow, Hope;
Flint, Melissa;
Esfandiarei, Mitra

Publication type:

journal article

Satisfaction with life in adults with Marfan syndrome (MFS): associations with health-related consequences of MFS, pain, fatigue, and demographic factors.

Published in:

2016

By:

Velvin, Gry;
Bathen, Trine;
Rand-Hendriksen, Svend;
Geirdal, Amy;
Geirdal, Amy Østertun

Publication type:

journal article

Assessment of Myocardial Fibrosis in Marfan Syndrome Using Cardiac Magnetic Resonance Imaging.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70024

By:

Demolder, Anthony;
Devos, Dan;
De Backer, Julie;
Muiño‐Mosquera, Laura

Publication type:

Article

A Novel Heterozygous Intronic FBN1 Variant Contributes to Aberrant RNA Splicing in Marfan Syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 9, p. 1, doi. 10.1002/mgg3.70004

By:

Dougarem, Djouhayna;
Chen, Yi‐Xiao;
Sun, Yi‐Na;
Huang, He‐Feng;
Luo, Qiong

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

A novel pathogenic variant located just upstream of the C‐terminal Ser423‐X‐Ser425 phosphorylation motif in SMAD3 causing Loeys–Dietz syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2257

By:

Ishii, Satoshi;
Fujiwara, Takayuki;
Yagi, Hiroki;
Takeda, Norifumi;
Ando, Masahiko;
Yamauchi, Haruo;
Inuzuka, Ryo;
Taniguchi, Yuki;
Hatano, Masaru;
Komuro, Issei

Publication type:

Article

Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 7, p. 1, doi. 10.1002/mgg3.2166

By:

Buki, Gergely;
Szalai, Renata;
Pinter, Adrienn;
Hadzsiev, Kinga;
Melegh, Bela;
Rauch, Tibor;
Bene, Judit

Publication type:

Article

Clinical and genetic findings in Chinese families with congenital ectopia lentis.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 5, p. 1, doi. 10.1002/mgg3.2140

By:

Liu, Xin;
Niu, Liman;
Zhang, Liyun;
Jiang, Liqiong;
Liu, Kaiqing;
Wu, Xueping;
Liu, Xinhua;
Wang, Jiantao

Publication type:

Article

CRISPR/Cas9 in zebrafish: An attractive model for FBN1 genetic defects in humans.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 10, p. 1, doi. 10.1002/mgg3.1775

By:

Yin, Xiaoyun;
Hao, Jianxiu;
Yao, Yuanqing

Publication type:

Article

Association between subjective well‐being and perception of medical care system among patients with Marfan syndrome: A cross‐sectional study.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 5, p. 1, doi. 10.1002/mgg3.1661

By:

Shimizu, Tomoko;
Shimizu, Yasuko

Publication type:

Article

Mutation analysis and prenatal diagnosis of a family with congenital contractural arachnodactyly.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 4, p. 1, doi. 10.1002/mgg3.1638

By:

Hu, Lin;
Li, Huanzheng;
Sun, Guang;
Wu, Ke;
Luan, Zhaotang;
Xiang, Yanbao;
Tang, Shaohua

Publication type:

Article

Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1274

By:

Bitarafan, Fatemeh;
Razmara, Ehsan;
Khodaeian, Mehrnoosh;
Keramatipour, Mohammad;
Kalhor, Alireza;
Jafarinia, Ehsan;
Garshasbi, Masoud

Publication type:

Article

Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 3, p. 1, doi. 10.1002/mgg3.1116

By:

McInerney‐Leo, Aideen M.;
West, Jennifer;
Wheeler, Lawrie;
Leo, Paul J.;
Summers, Kim M.;
Anderson, Lisa;
Brown, Matthew A.;
West, Malcolm;
Duncan, Emma L.

Publication type:

Article

Sleep disordered breathing in Marfan syndrome: Value of standard screening questionnaires.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1039

By:

Sowho, Mudiaga O.;
Patil, Susheel;
Schneider, Hartmut;
MacCarrick, Gretchen;
Kirkness, Jason P.;
Wolfe, Lisa F.;
Sterni, Laura;
Cistulli, Peter A.;
Neptune, Enid R.

Publication type:

Article

Increased frequency of FBN1 frameshift and nonsense mutations in Marfan syndrome patients with aortic dissection.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1041

By:

Xu, Shijun;
Li, Lei;
Fu, Yuwei;
Wang, Xin;
Sun, Hairui;
Wang, Jianbin;
Han, Lu;
Wu, Zining;
Liu, Yongmin;
Zhu, Junming;
Sun, Lizhong;
Lan, Feng;
He, Yihua;
Zhang, Hongjia

Publication type:

Article

Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1023

By:

Lin, Mao;
Liu, Zhenlei;
Liu, Gang;
Zhao, Sen;
Li, Chao;
Chen, Weisheng;
Coban Akdemir, Zeynep;
Lin, Jiachen;
Song, Xiaofei;
Wang, Shengru;
Xu, Qiming;
Zhao, Yanxue;
Wang, Lianlei;
Zhang, Yuanqiang;
Yan, Zihui;
Liu, Sen;
Liu, Jiaqi;
Chen, Yixin;
Zuo, Yuzhi;
Yang, Xu

Publication type:

Article

Sleep apnea and the impact on cardiovascular risk in patients with Marfan syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 8, p. N.PAG, doi. 10.1002/mgg3.805

By:

Muiño‐Mosquera, Laura;
Bauters, Fré;
Dhondt, Karlien;
De Wilde, Hans;
Jordaens, Luc;
De Groote, Katya;
De Wolf, Daniel;
Hertegonne, Katrien;
De Backer, Julie

Publication type:

Article

Mutation screening in the FBN1 gene responsible for Marfan syndrome and related disorder in Chinese families.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 4, p. N.PAG, doi. 10.1002/mgg3.594

By:

Gong, Bo;
Yang, Lan;
Wang, Qingwei;
Ye, Zimeng;
Guo, Xiaoxin;
Yang, Chen;
Hao, Fang;
Shi, Yi;
Huang, Yi;
Qu, Chao;
Yang, Zhenglin

Publication type:

Article

Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 2, p. N.PAG, doi. 10.1002/mgg3.518

By:

Overwater, Eline;
Efrat, Rifka;
Barge‐Schaapveld, Daniela Q. C. M.;
Lakeman, Phillis;
Weiss, Marjan M.;
Maugeri, Alessandra;
van Tintelen, J. Peter;
Houweling, Arjan C.

Publication type:

Article

Survival, causes of death, and cardiovascular events in patients with Marfan syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 6, p. 1114, doi. 10.1002/mgg3.489

By:

Vanem, Thy Thy;
Geiran, Odd Ragnar;
Krohg‐Sørensen, Kirsten;
Røe, Cecilie;
Paus, Benedicte;
Rand‐Hendriksen, Svend

Publication type:

Article

Beals syndrome (congenital contractural arachnodactyly): prenatal ultrasound findings and molecular analysis.

Published in:

Ultrasound in Obstetrics & Gynecology, 2014, v. 44, n. 4, p. 486, doi. 10.1002/uog.13350

By:

Inbar‐Feigenberg, M.;
Meirowitz, N.;
Nanda, D.;
Toi, A.;
Okun, N.;
Chitayat, D.

Publication type:

Article

OP32.05: Prenatal diagnosis of neonatal Marfan syndrome.

Published in:

Ultrasound in Obstetrics & Gynecology, 2011, v. 38, p. 149, doi. 10.1002/uog.9558

By:

Gavilan, C.;
Escribano, D.;
Herraiz, I.;
Gomez Montes, E.;
Arbues, J.;
Galindo Izquierdo, A.

Publication type:

Article

P03.13: Neonatal Marfan syndrome.

Published in:

Ultrasound in Obstetrics & Gynecology, 2009, v. 34, n. S1, p. 190, doi. 10.1002/uog.7054

By:

Hugger, C.;
Kühn, T.;
Niethammer, K.;
Partsch, C. J.

Publication type:

Article

Poster abstracts: P27: ABNORMALITIES OF THE PLACENTA AND UMBILICAL CORD.

Published in:: 2007
Publication type:: Abstract

Prenatal diagnosis of Marfan syndrome.

Published in:

2007

By:

Stadiê, R.;
Geipel, A.;
Heep, A.;
Herberg, U.;
Welker, B.;
Gembruch, U.;
Berg, C.;
Stadié, R

Publication type:

Case Study

Early prenatal diagnosis by celocentesis.

Published in:

Ultrasound in Obstetrics & Gynecology, 2004, v. 23, n. 5, p. 482, doi. 10.1002/uog.1046

By:

Makrydimas, G.;
Georgiou, I.;
Bouba, I.;
Lolis, D.;
Nicolaides, K. H.

Publication type:

Article

Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly.

Published in:

Ultrasound in Obstetrics & Gynecology, 2002, v. 20, n. 4, p. 395, doi. 10.1046/j.1469-0705.2002.00819.x

By:

Kölble, N;
Wisser, J;
Babcock, D;
Maslen, C;
Huch, R;
Steinmann, B

Publication type:

Article