Walker–Warburg syndrome (WWS), also called Warburg syndrome, Chemke syndrome, HARD syndrome (Hydrocephalus, Agyria and Retinal Dysplasia), Pagon syndrome...
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epileptologist remembered for the eponymous syndromes Dandy–Walker syndrome, Dandy–Walker-like syndrome and Walker–Warburg syndrome. During his career he published...
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Rubinstein–Taybi syndrome, Marden–Walker syndrome, Sheldon–Hall syndrome, Shah–Waardenburg syndrome, Fryns syndrome, Walker–Warburg syndrome, Fukuyama congenital...
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Vitreous touch syndrome Vogt–Koyanagi–Harada disease Von Hippel–Lindau disease Vulvodynia Waardenburg syndrome WAGR syndrome Walker–Warburg syndrome Wallis–Zieff–Goldblatt...
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Congenital disorder of glycosylation (redirect from CDG syndrome)
the α-dystroglycanopathies (e.g. POMT1/POMT2-CDG (Walker-Warburg syndrome and Muscle-Eye-Brain syndrome)) with deficiencies in O-mannosylation of proteins;...
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Norrie disease (redirect from Anderson-Warburg syndrome)
persistent fetal vasculature, or the dysplasia of trisomy 13 and Walker–Warburg syndrome. For families with an existing history of Norrie disease, genetic...
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Muscle–eye–brain disease (redirect from Muscle-eye-brain syndrome)
dystrophy-dystroglycanopathy, MEB is often confused with other sub-type including Walker–Warburg syndrome and Fukuyama congenital muscular dystrophy. All these 3 diseases...
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Lissencephaly (redirect from Lissencephaly syndrome)
associated with both Isolated Lissencephaly syndrome and Miller–Dieker syndrome. Miller-Dieker syndrome, however, has additional deletions of adjacent...
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characterized by brain malformations along with muscular dystrophy. Walker-Warburg syndrome (WWS) is the most severe dystroglycanopathy phenotype, with the...
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Ciliopathy (redirect from Dandy Walker malformation postaxial polydactyly)
a set of characteristic physiological features which define whether a syndrome is a ciliopathy. Although ciliopathies are usually considered to involve...
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dysplasia, Miller–Dieker syndrome, muscle-brain-eye syndrome [de], Fukuyama congenital muscular dystrophy and Walker–Warburg syndrome are genetic disorders...
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Ullrich congenital muscular dystrophy) α-Dystroglycanopathies (Walker–Warburg syndrome, muscle-eye-brain disease) Laminopathies Distal muscular dystrophy...
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gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome". American Journal of Human Genetics. 71 (5): 1033–43. doi:10.1086/342975...
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aplasia–sclerocornea syndrome Nance–Horan syndrome Oculofaciocardiodental syndrome Patau syndrome Walker–Warburg syndrome Waardenburg syndrome "Microphthalmia". MedlinePlus...
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Louis: Mosby. pp. 896, 7. ISBN 978-1-4160-2999-1. Schinzel Syndrome "Walker-Warburg syndrome | Genetic and Rare Diseases Information Center (GARD) – an...
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are a cause of Fukuyama congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated...
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with congenital muscular dystrophy, dystroglycanopathies, and Walker-Warburg syndrome. The severity of these diseases are correlated to the amount of...
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shown in Scopus. Her most cited are: "Diagnostic criteria for Walker-Warburg syndrome" by Dobyns, W.B., Pagon, R.A., Armstrong, D., Curry, C.J.R., Greenberg...
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arthrogryposis, agenesis of the corpus callosum, Walker–Warburg syndrome, and Mowat–Wilson syndrome. "Meet the 2013 Sundance Filmmakers #31: Martha Shane...
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Persistent fetal vasculature (redirect from Persistent Fetal Vascular Syndrome)
environmental and genetic, are likely at play. Cases of Trisomy-13, Walker–Warburg syndrome, and Norrie diseases all frequently or exclusively include a PFV...
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numerous rare disorders, such as Andersen–Tawil syndrome, Laing distal myopathy, and Walker–Warburg syndrome. Additionally, the association covers conditions...
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different human congenital muscular dystrophy syndromes: Fukuyama congenital muscular dystrophy, Walker-Warburg syndrome, and muscle-eye-brain disease. In cobblestone...
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loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome". Nat Genet. 44 (5): 575–80. doi:10.1038/ng.2252. PMC 3371168....
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Wallis–Zieff–Goldblatt syndrome Wandering spleen Warburg–Sjo–Fledelius syndrome; see Micro syndrome Warburg–Thomsen syndrome Warburton–Anyane–Yeboa syndrome Warfarin...
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(2006). "POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome". J. Med. Genet. 42 (12): 907–12. doi:10.1136/jmg.2005.031963....
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known as Birt–Hogg–Dubé syndrome protein, which functions as an inhibitor of Lactate Dehydrogenase-A and a regulator of the Warburg effect. Folliculin (FLCN)...
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Cork University Press. ISBN 978-185918-4783 Clapham, A.R, Tutin, T.G. and Warburg, E.F. 1968. Excursion Flora of the British Isles. Cambridge University...
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Hereditary spastic paraplegia (redirect from Silver syndrome)
leading to a loss-of-function in L1CAM are also found in other X-linked syndromes. All of these disorders display corticospinal tract impairment (a hallmark...
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and cellular pathology Carl Warburg (1805–1892) — German/British physician and clinical pharmacologist, inventor of Warburg's Tincture, a famed antipyretic...
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Heinrich Warburg linked respiration to particles which he had obtained from extracts of guinea-pig liver and which he called "grana". Warburg and Heinrich...
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