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Year Number of Results
2004 1
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14 results

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Page 1
The role of GPR56/ADGRG1 in health and disease.
Singh AK, Lin HH. Singh AK, et al. Biomed J. 2021 Oct;44(5):534-547. doi: 10.1016/j.bj.2021.04.012. Epub 2021 May 4. Biomed J. 2021. PMID: 34654683 Free PMC article. Review.
By contrast, aberrant expression or deregulated functions of GPR56 have been implicated in diverse pathological processes, including bilateral frontoparietal polymicrogyria, depression, and tumorigenesis. ...
By contrast, aberrant expression or deregulated functions of GPR56 have been implicated in diverse pathological processes, including bila
Adhesion-GPCRs in the CNS.
Strokes N, Piao X. Strokes N, et al. Adv Exp Med Biol. 2010;706:87-97. doi: 10.1007/978-1-4419-7913-1_7. Adv Exp Med Biol. 2010. PMID: 21618828 Review.
Among the few adhesion-GPCRs being studied, GPR56 is so far the only member associated with a human brain malformation called bilateral frontoparietal polymicrogyria (BFPP). The histopathology of BFPP is a cobblestone-like brain malformation characterized by …
Among the few adhesion-GPCRs being studied, GPR56 is so far the only member associated with a human brain malformation called bilateral
Identification and clinical characteristics of a novel missense ADGRG1 variant in bilateral Frontoparietal Polymicrogyria: The electroclinical change from infancy to adulthood after Callosotomy in three siblings.
Kuo CY, Tsai MH, Lin HH, Wang YC, Singh AK, Chang CC, Lin JJ, Hung PC, Lin KL. Kuo CY, et al. Epilepsia Open. 2023 Mar;8(1):154-164. doi: 10.1002/epi4.12685. Epub 2023 Jan 11. Epilepsia Open. 2023. PMID: 36524291 Free PMC article. Review.
OBJECTIVE: Bilateral frontoparietal polymicrogyria (BFPP) is a rare genetic-related migration disorder. ...
OBJECTIVE: Bilateral frontoparietal polymicrogyria (BFPP) is a rare genetic-related migration disorder. ...
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 different forms of polymicrogyria encompass a wide range of clinical, aetiological, and histological findings. Advances in imaging have improved the diagnosis and classification of the condition. The molecular basis of polymicrogyria is beginning to be elucidate …
The different forms of polymicrogyria encompass a wide range of clinical, aetiological, and histological findings. Advances in imagin …
New trends in neuronal migration disorders.
Verrotti A, Spalice A, Ursitti F, Papetti L, Mariani R, Castronovo A, Mastrangelo M, Iannetti P. Verrotti A, et al. Eur J Paediatr Neurol. 2010 Jan;14(1):1-12. doi: 10.1016/j.ejpn.2009.01.005. Epub 2009 Mar 4. Eur J Paediatr Neurol. 2010. PMID: 19264520 Review.
It is characterized by a cluster of disorganized neurons in abnormal locations and it is divided into three main groups: periventricular nodular heterotopia, subcortical heterotopia and marginal glioneural heterotopia. Polymicrogyria develops at the final stages of neurona …
It is characterized by a cluster of disorganized neurons in abnormal locations and it is divided into three main groups: periventricular nod …
GPR56 and its related diseases.
Jin Z, Luo R, Piao X. Jin Z, et al. Prog Mol Biol Transl Sci. 2009;89:1-13. doi: 10.1016/S1877-1173(09)89001-7. Epub 2009 Oct 7. Prog Mol Biol Transl Sci. 2009. PMID: 20374731 Review.
However, the function of GPR56 remained unclear until 2004 when mutations in the human GPR56 gene were found to cause a specific brain malformation called bilateral frontoparietal polymicrogyria. Although GPR56 is expressed in a wide range of tissues, the con …
However, the function of GPR56 remained unclear until 2004 when mutations in the human GPR56 gene were found to cause a specific brain malfo …
Diffuse malformations of cortical development.
Bahi-Buisson N, Guerrini R. Bahi-Buisson N, et al. Handb Clin Neurol. 2013;111:653-65. doi: 10.1016/B978-0-444-52891-9.00068-3. Handb Clin Neurol. 2013. PMID: 23622213 Review.
Among several syndromes, recessive bilateral fronto-parietal polymicrogyria has been associated with mutations of the GPR56 gene. Bilateral perisylvian polymicrogyria has been associated with mutations in the SRPX2 gene in a few individuals and with li …
Among several syndromes, recessive bilateral fronto-parietal polymicrogyria has been associated with mutations of the GPR56 ge …
Genetic malformations of cortical development.
Guerrini R, Marini C. Guerrini R, et al. Exp Brain Res. 2006 Aug;173(2):322-33. doi: 10.1007/s00221-006-0501-z. Epub 2006 May 25. Exp Brain Res. 2006. PMID: 16724181 Review.
Carrier female patients can have isolated corpus callosum agenesis. Among several syndromes featuring polymicrogyria, bilateral perisylvian polymicrogyria shows genetic heterogeneity, including linkage to chromosome Xq28 in some pedigrees, autosomal dominant …
Carrier female patients can have isolated corpus callosum agenesis. Among several syndromes featuring polymicrogyria, bilateral
GPR56 and the developing cerebral cortex: cells, matrix, and neuronal migration.
Singer K, Luo R, Jeong SJ, Piao X. Singer K, et al. Mol Neurobiol. 2013 Feb;47(1):186-96. doi: 10.1007/s12035-012-8343-0. Epub 2012 Sep 22. Mol Neurobiol. 2013. PMID: 23001883 Free PMC article. Review.
GPR56, a member of the adhesion G protein-coupled receptor (GPCR) family, is integral to the development of the cortex, as mutations in GPR56 cause bilateral frontoparietal polymicrogyria (BFPP). BFPP is a cobblestone-like cortical malformation, characterized …
GPR56, a member of the adhesion G protein-coupled receptor (GPCR) family, is integral to the development of the cortex, as mutations in GPR5 …
Neuronal migration disorders: clinical, neuroradiologic and genetics aspects.
Spalice A, Parisi P, Nicita F, Pizzardi G, Del Balzo F, Iannetti P. Spalice A, et al. Acta Paediatr. 2009 Mar;98(3):421-33. doi: 10.1111/j.1651-2227.2008.01160.x. Epub 2008 Dec 16. Acta Paediatr. 2009. PMID: 19120042 Review.
Genetically, heterotopia is related to Filamin A (FLNA) or ADP-ribosylation factor guanine exchange factor 2 (ARFGEF2) genes mutations. Polymicrogyria is described as an augmentation of small circonvolutions separated by shallow enlarged sulci; bilateral frontopa
Genetically, heterotopia is related to Filamin A (FLNA) or ADP-ribosylation factor guanine exchange factor 2 (ARFGEF2) genes mutations. P
14 results