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Quoted phrase not found in phrase index: "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10"
Page 1
A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.
Corsten-Janssen N, Bouman K, Diphoorn JCD, Scheper AJ, Kinds R, El Mecky J, Breet H, Verheij JBGM, Suijkerbuijk R, Duin LK, Manten GTR, van Langen IM, Sijmons RH, Sikkema-Raddatz B, Westers H, van Diemen CC. Corsten-Janssen N, et al. Prenat Diagn. 2020 Sep;40(10):1300-1309. doi: 10.1002/pd.5781. Epub 2020 Jul 20. Prenat Diagn. 2020. PMID: 32627857 Free PMC article.
RESULTS: We established a genetic rES-based diagnosis in 8 out of 23 fetuses (35%) without QF-PCR or array abnormalities. Diagnoses included MIRAGE (SAMD9), Zellweger (PEX1), Walker-Warburg (POMGNT1), Noonan (PTNP11), Kabuki (KMT2D), and CHARGE (CHD7) syndrome …
RESULTS: We established a genetic rES-based diagnosis in 8 out of 23 fetuses (35%) without QF-PCR or array abnormalities. Diagnoses included …
Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy.
Taniguchi-Ikeda M, Kobayashi K, Kanagawa M, Yu CC, Mori K, Oda T, Kuga A, Kurahashi H, Akman HO, DiMauro S, Kaji R, Yokota T, Takeda S, Toda T. Taniguchi-Ikeda M, et al. Nature. 2011 Oct 5;478(7367):127-31. doi: 10.1038/nature10456. Nature. 2011. PMID: 21979053 Free PMC article.
Introduction of antisense oligonucleotides (AONs) targeting the splice acceptor, the predicted exonic splicing enhancer and the intronic splicing enhancer prevented pathogenic exon-trapping by SVA in cells of patients with FCMD and model mice, rescuing normal fukutin mRNA …
Introduction of antisense oligonucleotides (AONs) targeting the splice acceptor, the predicted exonic splicing enhancer and the intro …
Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy.
van Tol W, van Scherpenzeel M, Alsady M, Riemersma M, Hermans E, Kragt E, Tasca G, Kamsteeg EJ, Pennings M, van Beusekom E, Vermeulen JR, van Bokhoven H, Voermans NC, Willemsen MA, Ashikov A, Lefeber DJ. van Tol W, et al. Clin Chem. 2019 Oct;65(10):1295-1306. doi: 10.1373/clinchem.2019.305391. Epub 2019 Aug 2. Clin Chem. 2019. PMID: 31375477
Moreover, CDP-ribitol concentrations were reduced in fibroblasts and skeletal muscle biopsies from patients with CRPPA myopathy, showing that CDP-ribitol could serve as a diagnostic marker to identify patients with CRPPA with severe Walker-Warburg syndrome an …
Moreover, CDP-ribitol concentrations were reduced in fibroblasts and skeletal muscle biopsies from patients with CRPPA myopathy, showing tha …
Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.
Schell-Apacik CC, Wagner K, Bihler M, Ertl-Wagner B, Heinrich U, Klopocki E, Kalscheuer VM, Muenke M, von Voss H. Schell-Apacik CC, et al. Am J Med Genet A. 2008 Oct 1;146A(19):2501-11. doi: 10.1002/ajmg.a.32476. Am J Med Genet A. 2008. PMID: 18792984 Free PMC article.
In 11 of the 28 patients with ACC, the following diagnoses could be established: Mowat-Wilson syndrome (n = 2), Walker-Warburg syndrome (n = 1), oro-facial-digital syndrome type 1 (n = 1), and chromosomal rearrangements (n = 7), including a pati …
In 11 of the 28 patients with ACC, the following diagnoses could be established: Mowat-Wilson syndrome (n = 2), Walker-Warb …
Walker-Warburg Syndrome.
Khalaf SS, Tareef RB. Khalaf SS, et al. J AAPOS. 2006 Oct;10(5):486-8. doi: 10.1016/j.jaapos.2006.06.016. J AAPOS. 2006. PMID: 17070491 Free article. No abstract available.
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.
Bahi-Buisson N, Poirier K, Boddaert N, Fallet-Bianco C, Specchio N, Bertini E, Caglayan O, Lascelles K, Elie C, Rambaud J, Baulac M, An I, Dias P, des Portes V, Moutard ML, Soufflet C, El Maleh M, Beldjord C, Villard L, Chelly J. Bahi-Buisson N, et al. Brain. 2010 Nov;133(11):3194-209. doi: 10.1093/brain/awq259. Epub 2010 Oct 7. Brain. 2010. PMID: 20929962
GPR56 mutations cause an autosomal recessive polymicrogyria syndrome that has distinctive radiological features combining bilateral frontoparietal polymicrogyria, white matter abnormalities and cerebellar hypoplasia. ...The foetal case, which was terminated at 35 weeks of …
GPR56 mutations cause an autosomal recessive polymicrogyria syndrome that has distinctive radiological features combining bilateral f …
Prenatal Diagnosis of Persistent Hyperplastic Primary Vitreous: Report of 2 Cases and Review of the Literature.
Esmer AC, Sivrikoz TS, Gulec EY, Sezer S, Kalelioglu I, Has R, Yuksel A. Esmer AC, et al. J Ultrasound Med. 2016 Oct;35(10):2285-91. doi: 10.7863/ultra.15.11040. Epub 2016 Aug 31. J Ultrasound Med. 2016. PMID: 27582535 Review.
It might be isolated or associated with congenital syndromes such as trisomy 13, Walker-Warburg syndrome, and Norrie disease. We present 2 cases of persistent hyperplastic primary vitreous diagnosed by prenatal sonography in the early third trimester. ...In b …
It might be isolated or associated with congenital syndromes such as trisomy 13, Walker-Warburg syndrome, and Norrie di …