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Quoted phrase not found in phrase index: "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12"
Page 1
Spinal correction in patients with Fukuyama congenital muscular dystrophy.
Saito W, Namba T, Inoue G, Imura T, Miyagi M, Nakazawa T, Shirasawa E, Uchida K, Takaso M. Saito W, et al. J Orthop Sci. 2017 Jul;22(4):658-664. doi: 10.1016/j.jos.2017.02.005. Epub 2017 Mar 18. J Orthop Sci. 2017. PMID: 28325699
RESULTS: The mean height, weight and body mass index of the patients were 144.1 11.8 cm, 26.5 8.7 kg and 12.5 2.6 kg/m(2). The average intensive care unit stay was 1.3 days. ...FCMD patients are mentally impaired and physically small, so post-operative observation a …
RESULTS: The mean height, weight and body mass index of the patients were 144.1 11.8 cm, 26.5 8.7 kg and 12.5 2.6 kg/m(2). The averag …
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.
Taniguchi K, Kobayashi K, Saito K, Yamanouchi H, Ohnuma A, Hayashi YK, Manya H, Jin DK, Lee M, Parano E, Falsaperla R, Pavone P, Van Coster R, Talim B, Steinbrecher A, Straub V, Nishino I, Topaloglu H, Voit T, Endo T, Toda T. Taniguchi K, et al. Hum Mol Genet. 2003 Mar 1;12(5):527-34. doi: 10.1093/hmg/ddg043. Hum Mol Genet. 2003. PMID: 12588800
Since the MEB phenotype overlaps substantially with those of Fukuyama-type congenital muscular dystrophy (FCMD) and Walker-Warburg syndrome (WWS), these three diseases are thought to result from a similar pathomechanism. ...Including six previously reported m …
Since the MEB phenotype overlaps substantially with those of Fukuyama-type congenital muscular dystrophy (FCMD) and Walker-Warburg …
Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping.
Cormand B, Avela K, Pihko H, Santavuori P, Talim B, Topaloglu H, de la Chapelle A, Lehesjoki AE. Cormand B, et al. Am J Hum Genet. 1999 Jan;64(1):126-35. doi: 10.1086/302206. Am J Hum Genet. 1999. PMID: 9915951 Free PMC article.
A similar combination of muscle and brain involvement is also seen in Walker-Warburg syndrome (WWS) and Fukuyama congenital muscular dystrophy (FCMD). ...Multipoint linkage analysis gave a maximum LOD score of 6.17 at locus D1S2677. These findings prov …
A similar combination of muscle and brain involvement is also seen in Walker-Warburg syndrome (WWS) and Fukuyama congen …
Two families with novel missense mutations in COL4A1: When diagnosis can be missed.
Giorgio E, Vaula G, Bosco G, Giacone S, Mancini C, Calcia A, Cavalieri S, Di Gregorio E, Rigault De Longrais R, Leombruni S, Pinessi L, Cerrato P, Brusco A, Brussino A. Giorgio E, et al. J Neurol Sci. 2015 May 15;352(1-2):99-104. doi: 10.1016/j.jns.2015.03.042. Epub 2015 Apr 7. J Neurol Sci. 2015. PMID: 25873210 Free article.
Mutations in COL4A1, encoding one of the six collagen type IV proteins, cover a wide spectrum of autosomal dominant overlapping phenotypes including porencephaly, small-vessel disease and hemorrhagic stroke, leukoencephalopathy, hereditary angiopathy with nephropathy, aneurysms a …
Mutations in COL4A1, encoding one of the six collagen type IV proteins, cover a wide spectrum of autosomal dominant overlapping phenotypes i …
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
Hehr U, Uyanik G, Gross C, Walter MC, Bohring A, Cohen M, Oehl-Jaschkowitz B, Bird LM, Shamdeen GM, Bogdahn U, Schuierer G, Topaloglu H, Aigner L, Lochmüller H, Winkler J. Hehr U, et al. Neurogenetics. 2007 Nov;8(4):279-88. doi: 10.1007/s10048-007-0096-y. Epub 2007 Sep 29. Neurogenetics. 2007. PMID: 17906881
Furthermore, severe hydrocephalus was reported in two families during a previous pregnancy, emphasizing the phenotypic overlap with Walker-Warburg syndrome. In addition to three previously reported mutations, we identified six novel POMGnT1 mutations (one mis …
Furthermore, severe hydrocephalus was reported in two families during a previous pregnancy, emphasizing the phenotypic overlap with Walke …
First-trimester ultrasound diagnosis in a recurrent case of Walker-Warburg syndrome.
Blin G, Rabbé A, Ansquer Y, Meghdiche S, Floch-Tudal C, Mandelbrot L. Blin G, et al. Ultrasound Obstet Gynecol. 2005 Sep;26(3):297-9. doi: 10.1002/uog.1965. Ultrasound Obstet Gynecol. 2005. PMID: 16082720 Free article.
We report on two siblings with Walker-Warburg syndrome (WWS) born to a consanguineous couple. In the index case, the second-trimester scan showed ventricular dilatation and we diagnosed WWS after observing retinal detachment at 26 weeks' gestation and …
We report on two siblings with Walker-Warburg syndrome (WWS) born to a consanguineous couple. In the index case, the se …
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 …