Works matching DE "WEILL-Marchesani syndrome"

Results: 14

Bilateral Transient Pupil Closure after Iris Supported Intraocular Lens Implantation in a Case with Marfan Syndrome.

Published in:

2012

By:

Kara, Necip;
Bozkurt, Ercüment;
Yazici, Ahmet T.;
Demirok, Ahmet

Publication type:

Case Study

Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review.

Published in:

2016

By:

Reyes-Hernández, Octavio D.;
Palacios-Reyes, Carmen;
Chávez-Ocaña, Sonia;
Cortés-Malagón, Enoc M.;
Alonso-Themann, Patricia Garcia;
Ramos-Cano, Víctor;
Ramírez-Bello, Julián;
Sierra-Martínez, Mónica

Publication type:

journal article

Asthma Discordance in Twins Is Linked to Epigenetic Modifications of T Cells.

Published in:

PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0048796

By:

Runyon, R. Scott;
Cachola, Leslie M.;
Rajeshuni, Nitya;
Hunter, Tessa;
Garcia, Marco;
Ahn, Regina;
Lurmann, Fred;
Krasnow, Ruth;
Jack, Lisa M.;
Miller, Rachel L.;
Swan, Gary E.;
Kohli, Arunima;
Jacobson, Amanda C.;
Nadeau, Kari C.

Publication type:

Article

Systematic review of the psychosocial aspects of living with Marfan syndrome.

Published in:

Clinical Genetics, 2015, v. 87, n. 2, p. 109, doi. 10.1111/cge.12422

By:

Velvin, G.;
Bathen, T.;
Rand‐Hendriksen, S.;
Geirdal, A.Ø.

Publication type:

Article

Isolated Spherophakia and Glaucoma.

Published in:

2013

By:

Pikkel, Joseph;
Irena, Epstein

Publication type:

Case Study

A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66978-8

By:

Evans, Daniel R.;
Green, Jane S.;
Fahiminiya, Somayyeh;
Majewski, Jacek;
Fernandez, Bridget A.;
Deardorff, Matthew A.;
Johnson, Gordon J.;
Whelan, James H.;
Hubmacher, Dirk;
Apte, Suneel S.;
Care4Rare Canada Consortium;
Boycott, Kym;
Bulman, Dennis;
Dyment, David;
McKenzie, Alex;
Brudno, Michael;
Woods, Michael O.

Publication type:

Article

Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1186, doi. 10.1038/ejhg.2014.264

By:

Steinkellner, Hannes;
Etzler, Julia;
Gogoll, Laura;
Neesen, Jürgen;
Stifter, Eva;
Brandau, Oliver;
Laccone, Franco

Publication type:

Article

Bilateral clear lens extraction and intraocular lens implantation in a child with microspherophakia and Marfan syndrome.

Published in:

2019

By:

Godoy Farat, Joyce;
Nascimento Queiroz, Marjorie Fornazier;
Carlos Lottelli, Antonio

Publication type:

Case Study

Insufficiency of YAG Laser Iridotomy to Prevent Pupillary Block Glaucoma in a Microspherophakic Patient with Weill-Marchesani Syndrome.

Published in:

2018

By:

Yazgan, Serpil;
Çelik, Tuba;
Çelik, Erkan

Publication type:

Case Study

Retrospective Study of Visual Outcomes and Complications After Sutureless, Flapless, and Glueless Intrascleral Fixation of Posterior Chamber Intraocular Lens in Children and Young Adults.

Published in:

Journal of Pediatric Ophthalmology & Strabismus, 2017, v. 54, n. 6, p. 381, doi. 10.3928/01913913-20170703-10

By:

Prabu, V. Rajesh;
Kapoor, Smita;
Udayakumar, Swarna;
Gupta, Priyanka

Publication type:

Article

Aneurysm of both coronary buttons in a Marfan patient after Bentall-De Bono operation.

Published in:

2017

By:

Muñoz-Guijosa, Christian;
Romero, Jose M. Cortina

Publication type:

Image

Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review.

Published in:

BMC Ophthalmology, 2015, v. 15, n. 1, p. 21, doi. 10.1186/1471-2415-15-3

By:

Hui Guo;
Xinyi Wu;
Keli Cai;
Zhi Qiao

Publication type:

Article

Mutations in <i>CERS3</i> Cause Autosomal Recessive Congenital Ichthyosis in Humans.

Published in:

PLoS Genetics, 2013, v. 9, n. 6, p. 1, doi. 10.1371/journal.pgen.1003536

By:

Radner, Franz P. W.;
Marrakchi, Slaheddine;
Kirchmeier, Peter;
Kim, Gwang-Jin;
Ribierre, Florence;
Kamoun, Bourane;
Abid, Leila;
Leipoldt, Michael;
Turki, Hamida;
Schempp, Werner;
Heilig, Roland;
Lathrop, Mark;
Fischer, Judith

Publication type:

Article

Microenvironmental Regulation by Fibrillin-1.

Published in:

PLoS Genetics, 2012, v. 8, n. 1, p. 1, doi. 10.1371/journal.pgen.1002425

By:

Sengle, Gerhard;
Tsutsui, Ko;
Keene, Douglas R.;
Tufa, Sara F.;
Carlson, Eric J.;
Charbonneau, Noe L.;
Ono, Robert N.;
Sasaki, Takako;
Wirtz, Mary K.;
Samples, John R.;
Fessler, Liselotte I.;
Fessler, John H.;
Sekiguchi, Kiyotoshi;
Hayflick, Susan J.;
Sakai, Lynn Y.

Publication type:

Article