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Year Number of Results
1979 1
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1999 3
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2002 3
2003 8
2004 5
2005 7
2006 7
2007 8
2008 14
2009 9
2010 16
2011 9
2012 7
2013 6
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126 results

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Page 1
Neuronal migration disorders.
Guerrini R, Parrini E. Guerrini R, et al. Neurobiol Dis. 2010 May;38(2):154-66. doi: 10.1016/j.nbd.2009.02.008. Epub 2009 Feb 23. Neurobiol Dis. 2010. PMID: 19245832 Review.
Lissencephaly-pachygyria-severe band heterotopia are diffuse neuronal migration disorders (NMDs) causing severe, global neurological impairment. Abnormalities of the LIS1, DCX, ARX, TUBA1A and RELN genes have been associated with these malformations. ...
Lissencephaly-pachygyria-severe band heterotopia are diffuse neuronal migration disorders (NMDs) causing severe, global neurological
Deregulation of microtubule organization and RNA metabolism in Arx models for lissencephaly and developmental epileptic encephalopathy.
Drongitis D, Caterino M, Verrillo L, Santonicola P, Costanzo M, Poeta L, Attianese B, Barra A, Terrone G, Lioi MB, Paladino S, Di Schiavi E, Costa V, Ruoppolo M, Miano MG. Drongitis D, et al. Hum Mol Genet. 2022 Jun 4;31(11):1884-1908. doi: 10.1093/hmg/ddac028. Hum Mol Genet. 2022. PMID: 35094084 Free PMC article.
X-linked lissencephaly with abnormal genitalia (XLAG) and developmental epileptic encephalopathy-1 (DEE1) are caused by mutations in the Aristaless-related homeobox (ARX) gene, which encodes a transcription factor responsible for brain development. ...To addr …
X-linked lissencephaly with abnormal genitalia (XLAG) and developmental epileptic encephalopathy-1 (DEE1) are caused by mutati …
Genetic Basis of Brain Malformations.
Parrini E, Conti V, Dobyns WB, Guerrini R. Parrini E, et al. Mol Syndromol. 2016 Sep;7(4):220-233. doi: 10.1159/000448639. Epub 2016 Aug 27. Mol Syndromol. 2016. PMID: 27781032 Free PMC article. Review.
Genes that have been associated to MCD are mainly involved in cell proliferation and specification, neuronal migration, and late cortical organization. Lissencephaly-pachygyria-severe band heterotopia are diffuse neuronal migration disorders causing severe global neurologi …
Genes that have been associated to MCD are mainly involved in cell proliferation and specification, neuronal migration, and late cortical or …
Generation of FLAG-tagged Arx knock-in mouse model.
Lim Y, Cho IT, Golden JA, Cho G. Lim Y, et al. Genesis. 2022 Jul;60(6-7):e23479. doi: 10.1002/dvg.23479. Epub 2022 Jun 3. Genesis. 2022. PMID: 35656878 Free PMC article.
Using a FLAG antibody, we successfully detected ARX with immunofluorescent staining and pulled down ARX in embryonic brain tissues. This Flag-Arx mouse line will be a useful tool to isolate ARX complexes from mouse tissues for many applications....
Using a FLAG antibody, we successfully detected ARX with immunofluorescent staining and pulled down ARX in embryonic brain tis …
[ARX--one gene--many phenotypes].
Lisik M, Sieroń AL. Lisik M, et al. Neurol Neurochir Pol. 2008 Jul-Aug;42(4):338-44. Neurol Neurochir Pol. 2008. PMID: 18975239 Review. Polish.
The ARX gene belongs to transcription factors involved in differentiation of specific neuronal cells in the central nervous system. ...Described disorders caused by mutations in the ARX gene include: hydrocephaly with abnormal genitalia (HYD-AG), lissencep
The ARX gene belongs to transcription factors involved in differentiation of specific neuronal cells in the central nervous system. . …
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.
LIS1 mutations cause a more severe malformation in the posterior brain regions. DCX mutations usually cause anteriorly predominant lissencephaly in males and SBH in female patients. Additional forms are X-linked lissencephaly with corpus callosum agenesis and ambigu …
LIS1 mutations cause a more severe malformation in the posterior brain regions. DCX mutations usually cause anteriorly predominant lissen
Inactivation of Arx, the murine ortholog of the X-linked lissencephaly with ambiguous genitalia gene, leads to severe disorganization of the ventral telencephalon with impaired neuronal migration and differentiation.
Colombo E, Collombat P, Colasante G, Bianchi M, Long J, Mansouri A, Rubenstein JL, Broccoli V. Colombo E, et al. J Neurosci. 2007 Apr 25;27(17):4786-98. doi: 10.1523/JNEUROSCI.0417-07.2007. J Neurosci. 2007. PMID: 17460091 Free PMC article.
ARX loss-of-function mutations cause X-linked lissencephaly with ambiguous genitalia (XLAG), a severe neurological condition that results in profound brain malformations, including microcephaly, absence of corpus callosum, and impairment of the basal ganglia.
ARX loss-of-function mutations cause X-linked lissencephaly with ambiguous genitalia (XLAG), a severe neurological cond
Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly.
Friocourt G, Marcorelles P, Saugier-Veber P, Quille ML, Marret S, Laquerrière A. Friocourt G, et al. Acta Neuropathol. 2011 Feb;121(2):149-70. doi: 10.1007/s00401-010-0768-9. Epub 2010 Nov 3. Acta Neuropathol. 2011. PMID: 21046408 Free PMC article. Review.
Type I lissencephaly or agyria-pachygyria is a rare developmental disorder which results from a defect of neuronal migration. ...In this review, we summarize the current knowledge concerning these genetic disorders including clinical, neuropathological and molecular result …
Type I lissencephaly or agyria-pachygyria is a rare developmental disorder which results from a defect of neuronal migration. ...In t …
Ambiguous Genitalia and Lissencephaly in A 46,XY Neonate with a Novel Variant of Aristaless Gene.
Basa M, Vukovic R, Sarajlija A, Milenkovic T, Djordjevic M, Vucetic B, Martic J. Basa M, et al. Acta Endocrinol (Buchar). 2021 Jul-Sep;17(3):402-405. doi: 10.4183/aeb.2021.402. Acta Endocrinol (Buchar). 2021. PMID: 35342471 Free PMC article.
INTRODUCTION: Disorders of sexual development can present isolated or as a part of complex genetic syndromes. CASE PRESENTATION: A newborn with ambiguous genitalia and prenatally diagnosed brain malformations was referred to our hospital. ...Congenital adrenal hyperplasia …
INTRODUCTION: Disorders of sexual development can present isolated or as a part of complex genetic syndromes. CASE PRESENTATION: A newborn w …
126 results