Works matching DE "WEILL-Marchesani syndrome"
Results: 14
Mutations in <i>CERS3</i> Cause Autosomal Recessive Congenital Ichthyosis in Humans.
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- PLoS Genetics, 2013, v. 9, n. 6, p. 1, doi. 10.1371/journal.pgen.1003536
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- Article
Microenvironmental Regulation by Fibrillin-1.
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- PLoS Genetics, 2012, v. 8, n. 1, p. 1, doi. 10.1371/journal.pgen.1002425
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- Article
Bilateral Transient Pupil Closure after Iris Supported Intraocular Lens Implantation in a Case with Marfan Syndrome.
- Published in:
- 2012
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- Case Study
Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1186, doi. 10.1038/ejhg.2014.264
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- Article
Systematic review of the psychosocial aspects of living with Marfan syndrome.
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- Clinical Genetics, 2015, v. 87, n. 2, p. 109, doi. 10.1111/cge.12422
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- Article
Retrospective Study of Visual Outcomes and Complications After Sutureless, Flapless, and Glueless Intrascleral Fixation of Posterior Chamber Intraocular Lens in Children and Young Adults.
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- Journal of Pediatric Ophthalmology & Strabismus, 2017, v. 54, n. 6, p. 381, doi. 10.3928/01913913-20170703-10
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- Article
Asthma Discordance in Twins Is Linked to Epigenetic Modifications of T Cells.
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- PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0048796
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- Article
Isolated Spherophakia and Glaucoma.
- Published in:
- 2013
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- Case Study
Aneurysm of both coronary buttons in a Marfan patient after Bentall-De Bono operation.
- Published in:
- 2017
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- Image
Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review.
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- BMC Ophthalmology, 2015, v. 15, n. 1, p. 21, doi. 10.1186/1471-2415-15-3
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- Article
Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review.
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- 2016
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- Publication type:
- journal article
Bilateral clear lens extraction and intraocular lens implantation in a child with microspherophakia and Marfan syndrome.
- Published in:
- 2019
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- Publication type:
- Case Study
A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features.
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66978-8
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- Article
Insufficiency of YAG Laser Iridotomy to Prevent Pupillary Block Glaucoma in a Microspherophakic Patient with Weill-Marchesani Syndrome.
- Published in:
- 2018
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- Publication type:
- Case Study