Works about DYSTROPHY

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DIAGNOSTIC OPHTHALMOLOGY.

Published in:

Canadian Veterinary Journal / Revue Vétérinaire Canadienne, 2025, v. 66, n. 5, p. 575

By:

Sandmeyer, Lynne S.;
Leis, Marina L.

Publication type:

Article

Reversal of rocuronium-induced profound neuromuscular block by sugammadex in Duchenne muscular dystrophy.

Published in:

Pediatric Anesthesia, 2009, v. 19, n. 12, p. 1226, doi. 10.1111/j.1460-9592.2009.03178.x

By:

de BOER, HANS D.;
van ESMOND, JAN;
BOOIJ, LEO H.J.D.;
DRIESSEN, JACQUES J.

Publication type:

Article

The postoperative cardiovascular arrest of a 5-year-old male: an initial presentation of Duchenne's muscular dystrophy.

Published in:

Pediatric Anesthesia, 2006, v. 16, n. 2, p. 170, doi. 10.1111/j.1460-9592.2005.01698.x

By:

Girshin, Michael;
Mukherjee, Jana;
Clowney, Ross;
Singer, Lewis P.;
Wasnick, John

Publication type:

Article

Homonuclear chemical shift correlation in rotating solids via RN<sup>?</sup><sub> n</sub> symmetry-based adiabatic RF pulse schemes.

Published in:

Journal of Biomolecular NMR, 2004, v. 30, n. 4, p. 389, doi. 10.1007/s10858-004-4056-7

By:

Riedel, Kerstin;
Leppert, Jörg;
Häfner, Sabine;
Ohlenschläger, Oliver;
Görlach, Matthias;
Ramachandran, Ramadurai

Publication type:

Article

A case of congenital pyloric atresia with dystrophic epidermolysis bullosa.

Published in:

2014

By:

Short, Scott;
Grant, Christa;
Merianos, Demetri;
Haydel, Dana;
Ford, Henri

Publication type:

Report

Quantitative MR evaluation of body composition in patients with Duchenne muscular dystrophy.

Published in:

2002

By:

Pichiecchio, Anna;
Uggetti, Carla;
Egitto, Maria;
Berardinelli, Angela;
Orcesi, Simona;
Gorni, Ksenija;
Zanardi, Cristina;
Tagliabue, Anna;
Egitto, Maria Grazia;
Gorni, Ksenija Olga Tatiana

Publication type:

journal article

Identification of the rare variant p.Val803Met of WFS1 gene as a cause of Wolfram-like syndrome in a Chinese family.

Published in:

Acta Diabetologica, 2020, v. 57, n. 11, p. 1399, doi. 10.1007/s00592-020-01572-y

By:

Deng, Hongjun;
Zhang, Jiaoyue;
Zhu, Feng;
Deng, Xiuling;
Yuan, Li

Publication type:

Article

The l-arginine/NO pathway and homoarginine are altered in Duchenne muscular dystrophy and improved by glucocorticoids.

Published in:

Amino Acids, 2015, v. 47, n. 9, p. 1853, doi. 10.1007/s00726-015-2018-x

By:

Hörster, Irina;
Weigt-Usinger, Katharina;
Carmann, Christina;
Chobanyan-Jürgens, Kristine;
Köhler, Cornelia;
Schara, Ulrike;
Kayacelebi, Arslan;
Beckmann, Bibiana;
Tsikas, Dimitrios;
Lücke, Thomas

Publication type:

Article

Cystic Dystrophy in Heterotopic Pancreas of the Duodenal Wall.

Published in:

Digestive Surgery, 2008, v. 25, n. 4, p. 262, doi. 10.1159/000148133

By:

Jovanovic, Ivan;
Alempijevic, Tamara;
Lukic, Snezana;
Knezevic, Srboljub;
Popovic, Dragan;
Dugalic, Vladimir;
Micev, Marjan;
Krstic, Miodrag

Publication type:

Article

2021 Scientific Session of the Society of American Gastrointestinal and Endoscopic Surgeons (SAGES), Las Vegas, Nevada, 31 August–3 September 2021: Posters.

Published in:: Surgical Endoscopy & Other Interventional Techniques, 2021, v. 35, n. 1, p. 104, doi. 10.1007/s00464-021-08748-9
Publication type:: Article

In vivo confocal microscopy detects preclinical corneal lattice dystrophy.

Published in:

Eye (0950-222X), 2013, v. 27, n. 8, p. 991, doi. 10.1038/eye.2013.80

By:

Kailasanathan, A;
Maharajan, S

Publication type:

Article

Choroidal new vessels in type 1 myotonic dystrophy-related macular dystrophy respond to anti-VEGF therapy.

Published in:

Eye (0950-222X), 2012, v. 26, n. 12, p. 1595, doi. 10.1038/eye.2012.197

By:

Zinkernagel, M S;
Hornby, S J;
MacLaren, R E

Publication type:

Article

Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations.

Published in:

Eye (0950-222X), 2011, v. 25, n. 2, p. 208, doi. 10.1038/eye.2010.180

By:

Cohn, A. C.;
Turnbull, C.;
Ruddle, J. B.;
Guymer, R. H.;
Kearns, L. S.;
Staffieri, S.;
Daggett, H. T.;
Hewitt, A. W.;
Mackey, D. A.

Publication type:

Article

Recurrent endothelial graft rejection after DSAEK triple procedure.

Published in:

2010

By:

Jhanji, V.;
Vajpayee, R. B.

Publication type:

Case Study

Descemet membrane endothelial keratoplasty (DMEK) for Fuchs endothelial dystrophy: review of the first 50 consecutive cases.

Published in:

Eye (0950-222X), 2009, v. 23, n. 10, p. 1990, doi. 10.1038/eye.2008.393

By:

Ham, L.;
Dapena, I.;
van Luijk, C.;
van der Wees, J.;
Melles, G. R. J.

Publication type:

Article

Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients.

Published in:

Eye (0950-222X), 2009, v. 23, n. 4, p. 895, doi. 10.1038/eye.2008.116

By:

Mok, J.-W.;
Kim, H.-S.;
Joo, C.-K.

Publication type:

Article

Phenotype of autosomal dominant cone–rod dystrophy due to the R838C mutation of the GUCY2D gene encoding retinal guanylate cyclase-1.

Published in:

Eye (0950-222X), 2007, v. 21, n. 9, p. 1220, doi. 10.1038/sj.eye.6702612

By:

Smith, M.;
Whittock, N.;
Searle, A.;
Croft, M.;
Brewer, C.;
Cole, M.

Publication type:

Article

Retinal pigment epithelial changes and choroidal neovascularisation at the edge of posterior staphylomas; a case series and review of the literature.

Published in:

Eye (0950-222X), 2006, v. 20, n. 2, p. 150, doi. 10.1038/sj.eye.6701824

By:

Mehta, P.;
Dinakaran, S.;
Squirrell, D.;
Talbot, J.

Publication type:

Article

Gelatinous drop-like corneal dystrophy in a child with developmental delay: clinicopathological features and exclusion of the M1S1 gene.

Published in:

2005

By:

Akhtar, S.;
Bron, A. J.;
Qin, X.;
Creer, R. C.;
Guggenheim, J. A.;
Meek, K. M.

Publication type:

journal article

Clinical and immunopathological corneal phenotype in homozygotes for the BIGH3 R124H mutation.

Published in:

Eye (0950-222X), 2005, v. 19, n. 1, p. 92, doi. 10.1038/sj.eye.6701398

By:

Diaper, C. J. M.;
Schorderet, D. F.;
Chaubert, P.;
Munier, F. L.

Publication type:

Article

Analysis of the EFEMP1 gene in individuals and families with early onset drusen.

Published in:

Eye (0950-222X), 2005, v. 19, n. 1, p. 11, doi. 10.1038/sj.eye.6701435

By:

Narendran, N.;
Guymer, R. H.;
Cain, M.;
Baird, P. N.

Publication type:

Article

Treatment of inoperable coronary disease and refractory angina: spinal stimulators, epidurals, gene therapy, transmyocardial laser, and counterpulsation.

Published in:

2004

By:

Svorkdal, Nelson

Publication type:

journal article

Three-dimensional assessment of pharyngeal airway in individuals with myotonic dystrophy type 1.

Published in:

Turkish Journal of Medical Sciences, 2021, v. 51, n. 6, p. 3022, doi. 10.3906/sag-2105-106

By:

EVLİCE, Burcu;
KOÇ, Filiz;
DUYAN, Hazal;
SOYDAN ÇABUK, Damla

Publication type:

Article

Nail changes in patients with inflammatory bowel diseases.

Published in:

Turkish Journal of Medical Sciences, 2016, v. 46, n. 2, p. 495, doi. 10.3906/sag-1502-139

By:

EKİZ, Özlem;
ÇELİK, Ebru;
BALTA, İlknur;
BÜLBÜL ŞEN, Bilge;
RİFAİOĞLU, Emine Nur;
DEMİR, Mehmet;
EKİZ, Fuat;
BAŞAR, Ömer;
YÜKSEL, Osman

Publication type:

Article

CASE REPORT Orthodontic treatment of a case of Becker muscular dystrophy.

Published in:

Orthodontics & Craniofacial Research, 2004, v. 7, n. 1, p. 55, doi. 10.1046/j.1601-6335.2003.00271.x

By:

Suda, N.;
Matsuda, A.;
Yoda, S.;
Ishizaki, T.;
Higashibori, N.;
Kim, F.;
Otani-Saito, K.;
Ohyama, K.

Publication type:

Article

Rehabilitation of a 13‐Year History of Habitual Tic‐Induced Nail Dystrophy.

Published in:

2025

By:

Chen, Liang;
Li, Zheyuan;
Liu, Tianyi

Publication type:

Case Study

Pseudo‐psoriatic nail dystrophy revealing contact allergy to nail cosmetics.

Published in:

2024

By:

Lahouel, Ines;
Trimeche, Khaoula;
Smida, Salma;
Youssef, Monia;
Belhadjali, Hichem;
Zili, Jameleddine

Publication type:

Case Study

Selenium in the supplement as the probable cause of hair loss and nail dystrophy.

Published in:

2024

By:

Civas, Ekrem;
Akpınar, Ümit

Publication type:

Case Study

Screening for increased protein thiol oxidation in oxidatively stressed muscle tissue.

Published in:

Free Radical Research, 2011, v. 45, n. 9, p. 991, doi. 10.3109/10715762.2011.590136

By:

El-Shafey, Ahmed F.;
Armstrong, Alexander E.;
Terrill, Jessica R.;
Grounds, Miranda D.;
Arthur, Peter G.

Publication type:

Article

Pathological findings in a Dachshund-cross dog with neuroaxonal dystrophy.

Published in:

2016

By:

Pintus, Davide;
Cancedda, Maria Giovanna;
Macciocu, Simona;
Contu, Claudia;
Ligios, Ciriaco

Publication type:

Case Study

Complex Regional Pain Syndrome in the Head and Neck: A Review of the Literature.

Published in:

Journal of Orofacial Pain, 2002, v. 16, n. 2, p. 93

By:

Melis, Marcello;
Zawawi, Khalid;
Al-Badawi, Emad;
Lobo, Silvia Lobo;
Mehta, Noshir

Publication type:

Article

The Role of Sympathetic Activity in Neuropathic Orofacial Pain.

Published in:

Journal of Orofacial Pain, 1996, v. 10, n. 4, p. 297

By:

Lynch, Mary E.;
Elgeneidy, Adry K.

Publication type:

Article

Maxillary Implant Prosthodontic Treatment Using Digital Laboratory Protocol for a Patient with Epidermolysis Bullosa: A Case History Report.

Published in:

2017

By:

Agustín-Panadero, Rubén;
Serra-Pastor, Blanca;
Peñarrocha-Oltra, David;
Peñarrocha-Diago, Miguel

Publication type:

journal article

Drosophila model to clarify the pathological significance of OPA1 in autosomal dominant optic atrophy.

Published in:

eLife, 2024, p. 1, doi. 10.7554/eLife.87880

By:

Yohei Nitta;
Jiro Osaka;
Ryuto Maki;
Satoko Hakeda-Suzuki;
Emiko Suzuki;
Satoshi Ueki;
Takashi Suzuki;
Atsushi Sugie

Publication type:

Article

Novel hemizygous single‐nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss.

Published in:

2024

By:

German, Ryan J.;
Vuocolo, Blake;
Vossaert, Liesbeth;
Owen, Nichole;
Lewis, Richard A.;
Saba, Lisa;
Wangler, Michael F.;
Nagamani, Sandesh

Publication type:

Case Study

Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 10, p. 1, doi. 10.1002/mgg3.2023

By:

Souzeau, Emmanuelle;
Siggs, Owen M.;
Mullany, Sean;
Schmidt, Joshua M.;
Hassall, Mark M.;
Dubowsky, Andrew;
Chappell, Angela;
Breen, James;
Bae, Haae;
Nicholl, Jillian;
Hadler, Johanna;
Kearns, Lisa S.;
Staffieri, Sandra E.;
Hewitt, Alex W.;
Mackey, David A.;
Gupta, Aanchal;
Burdon, Kathryn P.;
Klebe, Sonja;
Craig, Jamie E.;
Mills, Richard A.

Publication type:

Article

Asymptomatic ASS1 carriers with high blood citrulline levels.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 9, p. 1, doi. 10.1002/mgg3.2007

By:

Chen, Hui‐An;
Hsu, Rai‐Hseng;
Chang, Kai‐Ling;
Huang, Yi‐Chen;
Chiang, Yun‐Chen;
Lee, Ni‐Chung;
Hwu, Wuh‐Liang;
Chiu, Pao‐Chin;
Chien, Yin‐Hsiu

Publication type:

Article

De novo nonsense variant in ASXL3 in a Chinese girl causing Bainbridge–Ropers syndrome: A case report and review of literature.

Published in:

2022

By:

Wang, Qin;
Zhang, Jianming;
Jiang, Nan;
Xie, Jiansheng;
Yang, Jingxin;
Zhao, Xiaoshan

Publication type:

Case Study

The clinical utility of a risk‐modifying SNP to detect carriers for spinal muscular atrophy with increased sensitivity.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1897

By:

Ware, Gardenier;
Miller, Cecelia;
Jones, Dan;
Avenarius, Matthew

Publication type:

Article

Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1892

By:

Borja, Nicholas;
Bivona, Stephanie;
Peart, Lé Shon;
Johnson, Brittany;
Gonzalez, Joanna;
Barbouth, Deborah;
Moore, Henry;
Guo, Shengru;
Bademci, Guney;
Tekin, Mustafa;
Acosta, Maria T.;
Adam, Margaret;
Adams, David R.;
Agrawal, Pankaj B.;
Alejandro, Mercedes E.;
Alvey, Justin;
Amendola, Laura;
Andrews, Ashley;
Ashley, Euan A.;
Azamian, Mahshid S.

Publication type:

Article

Compound heterozygous KCNV2 variants contribute to cone dystrophy with supernormal rod responses in a Chinese family.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 10, p. 1, doi. 10.1002/mgg3.1795

By:

Liu, Man;
Zhu, Yingchuan;
Huang, Lian;
Jiang, Wenhao;
Wu, Na;
Song, Yue;
Lu, Yilu;
Ma, Yongxin

Publication type:

Article

The first Japanese family of CDH3‐related hypotrichosis with juvenile macular dystrophy.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1688

By:

Hayashi, Takaaki;
Katagiri, Satoshi;
Kubota, Daiki;
Mizobuchi, Kei;
Ishiuji, Yozo;
Asahina, Akihiko;
Kameya, Shuhei;
Nakano, Tadashi

Publication type:

Article

Epimutation of MMACHC compound to a genetic mutation in cblC cases.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1625

By:

Zhang, Xiaoman;
Chen, Qiong;
Song, Yinsen;
Guo, Pengbo;
Wang, Yanhong;
Luo, Shuying;
Zhang, Yaodong;
Zhou, Chongchen;
Li, Dongxiao;
Chen, Yongxing;
Wei, Haiyan

Publication type:

Article

High throughput screening for expanded CTG repeats in myotonic dystrophy type 1 using melt curve analysis.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 4, p. 1, doi. 10.1002/mgg3.1619

By:

Butterfield, Russell J.;
Imburgia, Carina;
Mayne, Katie;
Newcomb, Tara;
Dunn, Diane M.;
Duval, Brett;
Feldkamp, Marcia L.;
Johnson, Nicholas E.;
Weiss, Robert B.

Publication type:

Article

A novel de novo SLC26A3 mutation causing congenital chloride diarrhea in a Japanese neonate.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1505

By:

Konishi, Ken‐ichiro;
Mizuochi, Tatsuki;
Honma, Hitoshi;
Etani, Yuri;
Morikawa, Kazue;
Wada, Kazuko;
Yamamoto, Ken

Publication type:

Article

Characterization of CRB1 splicing in retinal organoids derived from a patient with adult‐onset rod‐cone dystrophy caused by the c.1892A>G and c.2548G>A variants.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1489

By:

Zhang, Xiao;
Thompson, Jennifer A.;
Zhang, Dan;
Charng, Jason;
Arunachalam, Sukanya;
McLaren, Terri L.;
Lamey, Tina M.;
De Roach, John N.;
Jennings, Luke;
McLenachan, Samuel;
Chen, Fred K.

Publication type:

Article

Clinical manifestation and genetic analysis in Chinese early onset X‐linked retinoschisis.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1421

By:

Huang, Li;
Sun, Limei;
Wang, Zhirong;
Chen, Chonglin;
Wang, Panfeng;
Sun, Wenmin;
Luo, Xiaoling;
Ding, Xiaoyan

Publication type:

Article

Consanguineous‐derived homozygous WNT1 mutation results in osteogenesis imperfect with congenital ptosis and exotropia.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1350

By:

Chen, Peng;
Chen, Jiaxi;
Yang, Zhantao;
Lu, Yang;
Shen, Liping;
Zhou, Kai;
Ye, Shenyi;
Shen, Bo

Publication type:

Article

Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1308

By:

Mizobuchi, Kei;
Hayashi, Takaaki;
Yoshitake, Kazutoshi;
Fujinami, Kaoru;
Tachibana, Toshiaki;
Tsunoda, Kazushige;
Iwata, Takeshi;
Nakano, Tadashi

Publication type:

Article

Extending the spectrum of CLRN1‐ and ABCA4‐associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 3, p. 1, doi. 10.1002/mgg3.1123

By:

Abu‐Ameerh, Mohammed;
Mohammad, Hashim;
Dardas, Zain;
Barham, Raghda;
Ali, Dema;
Bijawi, Maysa;
Tawalbeh, Mohamed;
Amr, Sami;
Hatmal, Ma'mon M.;
Al‐Bdour, Muawyah;
Awidi, Abdalla;
Azab, Belal

Publication type:

Article