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2002 1
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Page 1
Bilateral frontoparietal polymicrogyria.
Jain P, Sharma S, Bahi-Buisson N, Beldjord C, Aneja S. Jain P, et al. Indian J Pediatr. 2015 Apr;82(4):390-1. doi: 10.1007/s12098-014-1614-1. Epub 2014 Nov 23. Indian J Pediatr. 2015. PMID: 25416088 No abstract available.
Genetics of the polymicrogyria syndromes.
Jansen A, Andermann E. Jansen A, et al. J Med Genet. 2005 May;42(5):369-78. doi: 10.1136/jmg.2004.023952. J Med Genet. 2005. PMID: 15863665 Free PMC article. Review.
The molecular basis of polymicrogyria is beginning to be elucidated with the identification of a gene, GPR56, for bilateral frontoparietal polymicrogyria. Functional studies of the GPR56 gene product will yield insights not only into the causes of polymicrogy …
The molecular basis of polymicrogyria is beginning to be elucidated with the identification of a gene, GPR56, for bilateral fronto …
Bilateral symmetrical frontoparietal polymicrogyria.
Sztriha L, Nork M. Sztriha L, et al. Eur J Paediatr Neurol. 2002;6(4):229-32. doi: 10.1053/ejpn.2002.0599. Eur J Paediatr Neurol. 2002. PMID: 12374591
Magnetic resonance imaging revealed bilateral thick cortex with irregular gyri and festoon-like grey-white matter junction in the frontoparietal areas. Bilateral frontoparietal polymicrogyria might represent either a severe form of a spectrum of malformations …
Magnetic resonance imaging revealed bilateral thick cortex with irregular gyri and festoon-like grey-white matter junction in the frontopari …
Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.
Chang BS, Piao X, Bodell A, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter RM, Innes AM, Voit T, Grant PE, Barkovich AJ, Walsh CA. Chang BS, et al. Ann Neurol. 2003 May;53(5):596-606. doi: 10.1002/ana.10520. Ann Neurol. 2003. PMID: 12730993
Multiple syndromes of region-specific bilateral symmetric polymicrogyria have been reported. We previously have described two families with bilateral frontoparietal polymicrogyria (BFPP), an autosomal recessive syndrome that we mapped to a locus on chromosome …
Multiple syndromes of region-specific bilateral symmetric polymicrogyria have been reported. We previously have described two families with …
Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformation.
Chang BS, Piao X, Giannini C, Cascino GD, Scheffer I, Woods CG, Topcu M, Tezcan K, Bodell A, Leventer RJ, Barkovich AJ, Grant PE, Walsh CA. Chang BS, et al. Neurology. 2004 May 25;62(10):1722-8. doi: 10.1212/01.wnl.0000125187.52952.e9. Neurology. 2004. PMID: 15159468 Review.
BACKGROUND: Syndromes of bilateral symmetric polymicrogyria include an autosomal recessive form of bilateral frontoparietal polymicrogyria (BFPP), in which the malformation is most severe rostrally. ...
BACKGROUND: Syndromes of bilateral symmetric polymicrogyria include an autosomal recessive form of bilateral frontoparietal …
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. ...
GPR56 mutations cause an autosomal recessive polymicrogyria syndrome that has distinctive radiological features combining bilateral …
Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.
Piao X, Chang BS, Bodell A, Woods K, Benzeev B, Topcu M, Guerrini R, Goldberg-Stern H, Sztriha L, Dobyns WB, Barkovich AJ, Walsh CA. Piao X, et al. Ann Neurol. 2005 Nov;58(5):680-7. doi: 10.1002/ana.20616. Ann Neurol. 2005. PMID: 16240336
Human cerebral cortical polymicrogyria is a heterogeneous disorder, with only one known gene (GPR56) associated with an apparently distinctive phenotype, termed bilateral frontoparietal polymicrogyria (BFPP). To define the range of abnormalities that could be …
Human cerebral cortical polymicrogyria is a heterogeneous disorder, with only one known gene (GPR56) associated with an apparently distincti …
Bilateral frontoparietal polymicrogyria: a novel GPR56 mutation and an unusual phenotype.
Santos-Silva R, Passas A, Rocha C, Figueiredo R, Mendes-Ribeiro J, Fernandes S, Biskup S, Leão M. Santos-Silva R, et al. Neuropediatrics. 2015 Apr;46(2):134-8. doi: 10.1055/s-0034-1399754. Epub 2015 Feb 2. Neuropediatrics. 2015. PMID: 25642806
Loss of function of GPR56 causes a specific brain malformation called the bilateral frontoparietal polymicrogyria (BFPP), which has typical clinical and neuroradiological findings. ...
Loss of function of GPR56 causes a specific brain malformation called the bilateral frontoparietal polymicrogyria (BFPP …
GPR56-Related Polymicrogyria: Clinicoradiologic Profile of 4 Patients.
Desai NA, Udani V. Desai NA, et al. J Child Neurol. 2015 Nov;30(13):1819-23. doi: 10.1177/0883073815583335. Epub 2015 Apr 28. J Child Neurol. 2015. PMID: 25922261
Bilateral frontoparietal polymicrogyria is an autosomal recessive cortical malformation associated with abnormalities of neuronal migration, white matter changes, and mild brainstem and cerebellar abnormalities. ...However, no muscle disease or characteristic …
Bilateral frontoparietal polymicrogyria is an autosomal recessive cortical malformation associated with abnormalities o …
Biochemical characterization of genetic mutations of GPR56 in patients with bilateral frontoparietal polymicrogyria (BFPP).
Ke N, Ma H, Diedrich G, Chionis J, Liu G, Yu DH, Wong-Staal F, Li QX. Ke N, et al. Biochem Biophys Res Commun. 2008 Feb 8;366(2):314-20. doi: 10.1016/j.bbrc.2007.11.071. Epub 2007 Nov 26. Biochem Biophys Res Commun. 2008. PMID: 18042463
Bilateral frontoparietal polymicrogyria (BFPP) is a rare genetic disease characterized by cortical malformation associated with GPR56 mutations of frameshift, splicing, and point mutations (Science 303:2033). ...
Bilateral frontoparietal polymicrogyria (BFPP) is a rare genetic disease characterized by cortical malformation associa …
11 results