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Quoted phrase not found in phrase index: "Lissencephaly due to LIS1 mutation"
Page 1
Lissencephaly: Expanded imaging and clinical classification.
Di Donato N, Chiari S, Mirzaa GM, Aldinger K, Parrini E, Olds C, Barkovich AJ, Guerrini R, Dobyns WB. Di Donato N, et al. Am J Med Genet A. 2017 Jun;173(6):1473-1488. doi: 10.1002/ajmg.a.38245. Epub 2017 Apr 25. Am J Med Genet A. 2017. PMID: 28440899 Free PMC article.
Lissencephaly ("smooth brain," LIS) is a malformation of cortical development associated with deficient neuronal migration and abnormal formation of cerebral convolutions or gyri. ...Using these data plus published reports, we constructed a new imaging based classification …
Lissencephaly ("smooth brain," LIS) is a malformation of cortical development associated with deficient neuronal migration and abnorm …
Deletion of 17p13 and LIS1 gene mutation in isolated lissencephaly sequence.
Elias RC, Galera MF, Schnabel B, Briones MR, Borri ML, Lipay M, Carvalheira G, Brunoni D, Melaragno MI. Elias RC, et al. Pediatr Neurol. 2006 Jul;35(1):42-6. doi: 10.1016/j.pediatrneurol.2005.12.001. Pediatr Neurol. 2006. PMID: 16814084
Classical lissencephaly is a neuroblast migration disorder that occurs either as isolated lissencephaly sequence or in association with malformation syndromes, such as the Miller-Dieker syndrome. In this work, alterations of the LIS1 gene in patients diagnose …
Classical lissencephaly is a neuroblast migration disorder that occurs either as isolated lissencephaly sequence or in associa …
Lissencephaly in an epilepsy cohort: Molecular, radiological and clinical aspects.
Kolbjer S, Martin DA, Pettersson M, Dahlin M, Anderlid BM. Kolbjer S, et al. Eur J Paediatr Neurol. 2021 Jan;30:71-81. doi: 10.1016/j.ejpn.2020.12.011. Epub 2021 Jan 8. Eur J Paediatr Neurol. 2021. PMID: 33453472
Four patients (20%) had tubulin encoding gene mutations (TUBA1A, TUBG1 and TUBGCP6). Mutations in DCX, DYNC1H1, ADGRG1 and WDR62 were identified in single patients. ...CONCLUSION: The most common genetic aetiologies in our cohort of 20 individuals with epilepsy and …
Four patients (20%) had tubulin encoding gene mutations (TUBA1A, TUBG1 and TUBGCP6). Mutations in DCX, DYNC1H1, ADGRG1 and WDR …
Genotype-phenotype correlation in lissencephaly and subcortical band heterotopia: the key questions answered.
Leventer RJ. Leventer RJ. J Child Neurol. 2005 Apr;20(4):307-12. doi: 10.1177/08830738050200040701. J Child Neurol. 2005. PMID: 15921231 Review.
The genetic basis of approximately 70% of classic lissencephaly and 80% of typical subcortical band heterotopia is known. ...There is a robust correlation between many of the clinical aspects of lissencephaly or subcortical band heterotopia and the type and location …
The genetic basis of approximately 70% of classic lissencephaly and 80% of typical subcortical band heterotopia is known. ...There is …
Lissencephaly and the molecular basis of neuronal migration.
Kato M, Dobyns WB. Kato M, et al. Hum Mol Genet. 2003 Apr 1;12 Spec No 1:R89-96. doi: 10.1093/hmg/ddg086. Hum Mol Genet. 2003. PMID: 12668601 Review.
In this review, we summarize current knowledge regarding five genes that cause or contribute to human lissencephaly, including LIS1, 14-3-3 epsilon, DCX, RELN and ARX. Each of these is associated with a characteristic pattern of malformation that involves the cerebr …
In this review, we summarize current knowledge regarding five genes that cause or contribute to human lissencephaly, including LIS …
Location and type of mutation in the LIS1 gene do not predict phenotypic severity.
Uyanik G, Morris-Rosendahl DJ, Stiegler J, Klapecki J, Gross C, Berman Y, Martin P, Dey L, Spranger S, Korenke GC, Schreyer I, Hertzberg C, Neumann TE, Burkart P, Spaich C, Meng M, Holthausen H, Adès L, Seidel J, Mangold E, Buyse G, Meinecke P, Schara U, Zeschnigk C, Muller D, Helland G, Schulze B, Wright ML, Kortge-Jung S, Hehr A, Bogdahn U, Schuierer G, Kohlhase J, Aigner L, Wolff G, Hehr U, Winkler J. Uyanik G, et al. Neurology. 2007 Jul 31;69(5):442-7. doi: 10.1212/01.wnl.0000266629.98503.d0. Neurology. 2007. PMID: 17664403
Type 1 lissencephaly is mostly associated with a heterozygous deletion of the entire LIS1 gene, whereas intragenic heterozygous LIS1 mutations or hemizygous DCX mutations in males are less common. ...Furthermore, we present two patients with nov …
Type 1 lissencephaly is mostly associated with a heterozygous deletion of the entire LIS1 gene, whereas intragenic heterozygou …
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.
Pilz DT, Matsumoto N, Minnerath S, Mills P, Gleeson JG, Allen KM, Walsh CA, Barkovich AJ, Dobyns WB, Ledbetter DH, Ross ME. Pilz DT, et al. Hum Mol Genet. 1998 Dec;7(13):2029-37. doi: 10.1093/hmg/7.13.2029. Hum Mol Genet. 1998. PMID: 9817918
Deletions or mutations of LIS1 on 17p13.3 and mutations in XLIS ( DCX ) on Xq22.3-q23 produce LIS. ...The mutations in LIS1 were predicted to result in protein truncation in six of eight patients and splice site mutations in two, a …
Deletions or mutations of LIS1 on 17p13.3 and mutations in XLIS ( DCX ) on Xq22.3-q23 produce LIS. ...The mutations …
Analysis of lissencephaly-causing LIS1 mutations.
Sapir T, Eisenstein M, Burgess HA, Horesh D, Cahana A, Aoki J, Hattori M, Arai H, Inoue K, Reiner O. Sapir T, et al. Eur J Biochem. 1999 Dec;266(3):1011-20. doi: 10.1046/j.1432-1327.1999.00942.x. Eur J Biochem. 1999. PMID: 10583396 Free article.
Mutations in the LIS1 gene may result in severe abnormalities of brain cortical layering known as lissencephaly. Most lissencephaly-causing LIS1 mutations are deletions that encompass the entire gene, therefore the mechanism of the diseas …
Mutations in the LIS1 gene may result in severe abnormalities of brain cortical layering known as lissencephaly. Most …
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity.
Saillour Y, Carion N, Quelin C, Leger PL, Boddaert N, Elie C, Toutain A, Mercier S, Barthez MA, Milh M, Joriot S, des Portes V, Philip N, Broglin D, Roubertie A, Pitelet G, Moutard ML, Pinard JM, Cances C, Kaminska A, Chelly J, Beldjord C, Bahi-Buisson N. Saillour Y, et al. Arch Neurol. 2009 Aug;66(8):1007-15. doi: 10.1001/archneurol.2009.149. Arch Neurol. 2009. PMID: 19667223
In addition, neither the mutation type nor the location of the mutation were found to predict the severity of LIS1-related lissencephaly. CONCLUSION: Our results confirm the homogeneity profile of patients with LIS1-related lissencepha …
In addition, neither the mutation type nor the location of the mutation were found to predict the severity of LIS1 …
Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary.
Mokánszki A, Körhegyi I, Szabó N, Bereg E, Gergev G, Balogh E, Bessenyei B, Sümegi A, Morris-Rosendahl DJ, Sztriha L, Oláh E. Mokánszki A, et al. J Child Neurol. 2012 Dec;27(12):1534-40. doi: 10.1177/0883073811436326. Epub 2012 Mar 8. J Child Neurol. 2012. PMID: 22408144
Mutations involving LIS1 and TUBA1A result in the classic form of lissencephaly, whereas mutations of the DCX gene cause lissencephaly in males and subcortical band heterotopia in females. ...The mutations appeared in the first half of th …
Mutations involving LIS1 and TUBA1A result in the classic form of lissencephaly, whereas mutations of the DCX ge …
26 results