Walker–Warburg syndrome (WWS), also called Warburg syndrome, Chemke syndrome, HARD syndrome (Hydrocephalus, Agyria and Retinal Dysplasia), Pagon syndrome...
8 KB (682 words) - 05:46, 6 July 2024
Rubinstein–Taybi syndrome, Marden–Walker syndrome, Sheldon–Hall syndrome, Shah–Waardenburg syndrome, Fryns syndrome, Walker–Warburg syndrome, Fukuyama congenital...
47 KB (5,483 words) - 15:13, 2 March 2024
epileptologist remembered for the eponymous syndromes Dandy–Walker syndrome, Dandy–Walker-like syndrome and Walker–Warburg syndrome. During his career he published...
6 KB (620 words) - 17:40, 25 March 2024
Vitreous touch syndrome Vogt–Koyanagi–Harada disease Von Hippel–Lindau disease Vulvodynia Waardenburg syndrome WAGR syndrome Walker–Warburg syndrome Wallis–Zieff–Goldblatt...
42 KB (4,065 words) - 11:33, 29 August 2024
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;...
41 KB (3,740 words) - 23:31, 13 August 2024
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...
30 KB (3,742 words) - 01:00, 9 March 2024
Lissencephaly (redirect from Lissencephaly syndrome)
associated with both Isolated Lissencephaly syndrome and Miller–Dieker syndrome. Miller-Dieker syndrome, however, has additional deletions of adjacent...
24 KB (2,536 words) - 17:29, 27 August 2024
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...
33 KB (3,533 words) - 20:13, 14 August 2024
characterized by brain malformations along with muscular dystrophy. Walker-Warburg syndrome (WWS) is the most severe dystroglycanopathy phenotype, with the...
34 KB (3,524 words) - 14:14, 13 August 2024
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...
35 KB (2,499 words) - 18:40, 12 July 2024
dysplasia, Miller–Dieker syndrome, muscle-brain-eye syndrome [de], Fukuyama congenital muscular dystrophy and Walker–Warburg syndrome are genetic disorders...
7 KB (690 words) - 13:11, 25 July 2024
aplasia–sclerocornea syndrome Nance–Horan syndrome Oculofaciocardiodental syndrome Patau syndrome Walker–Warburg syndrome Waardenburg syndrome "Microphthalmia". MedlinePlus...
25 KB (2,173 words) - 09:44, 18 March 2024
Ullrich congenital muscular dystrophy) α-Dystroglycanopathies (Walker–Warburg syndrome, muscle-eye-brain disease) Laminopathies Distal muscular dystrophy...
9 KB (899 words) - 01:15, 30 January 2023
are a cause of Fukuyama congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated...
10 KB (1,240 words) - 08:02, 22 December 2023
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...
5 KB (496 words) - 17:14, 3 December 2023
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...
9 KB (1,019 words) - 06:44, 27 March 2022
Louis: Mosby. pp. 896, 7. ISBN 978-1-4160-2999-1. Schinzel Syndrome "Walker-Warburg syndrome | Genetic and Rare Diseases Information Center (GARD) – an...
4 KB (328 words) - 22:00, 6 May 2024
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...
30 KB (3,573 words) - 11:18, 3 December 2023
arthrogryposis, agenesis of the corpus callosum, Walker–Warburg syndrome, and Mowat–Wilson syndrome. "Meet the 2013 Sundance Filmmakers #31: Martha Shane...
12 KB (1,240 words) - 22:40, 28 April 2023
numerous rare disorders, such as Andersen–Tawil syndrome, Laing distal myopathy, and Walker–Warburg syndrome. Additionally, the association covers conditions...
41 KB (4,186 words) - 19:57, 18 August 2024
with congenital muscular dystrophy, dystroglycanopathies, and Walker-Warburg syndrome. The severity of these diseases are correlated to the amount of...
3 KB (413 words) - 09:17, 31 August 2022
different human congenital muscular dystrophy syndromes: Fukuyama congenital muscular dystrophy, Walker-Warburg syndrome, and muscle-eye-brain disease. In cobblestone...
20 KB (2,359 words) - 06:20, 6 July 2024
Wallis–Zieff–Goldblatt syndrome Wandering spleen Warburg–Sjo–Fledelius syndrome; see Micro syndrome Warburg–Thomsen syndrome Warburton–Anyane–Yeboa syndrome Warfarin...
5 KB (439 words) - 17:45, 14 March 2022
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....
14 KB (1,192 words) - 11:20, 14 July 2024
(2006). "POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome". J. Med. Genet. 42 (12): 907–12. doi:10.1136/jmg.2005.031963....
7 KB (649 words) - 02:52, 3 December 2023
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)...
48 KB (5,618 words) - 16:28, 4 August 2024
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...
9 KB (884 words) - 02:31, 19 August 2024
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...
36 KB (3,347 words) - 19:00, 17 April 2024
Heinrich Warburg linked respiration to particles which he had obtained from extracts of guinea-pig liver and which he called "grana". Warburg and Heinrich...
166 KB (18,358 words) - 23:39, 24 August 2024
Wallace – journalist Vera Wang – fashion designer Felix M. Warburg James Warburg – banker Paul Warburg – banker Andy Warhol – artist Bruce Wasserstein (1947-2009) –...
94 KB (7,605 words) - 09:36, 30 August 2024