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Quoted phrase not found in phrase index: "Lissencephaly due to LIS1 mutation"
Page 1
The genetics of lissencephaly.
Fry AE, Cushion TD, Pilz DT. Fry AE, et al. Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):198-210. doi: 10.1002/ajmg.c.31402. Epub 2014 May 23. Am J Med Genet C Semin Med Genet. 2014. PMID: 24862549 Review.
Lissencephaly is a spectrum of severe brain malformations caused by the failure of migrating neurons to reach optimal positions in the developing cerebral cortex. ...This review explores the clinical presentation, radiological features, histological findings and molecular …
Lissencephaly is a spectrum of severe brain malformations caused by the failure of migrating neurons to reach optimal positions in th …
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. ...LCHa is related to mutation in LIS1 or DCX, LCHb with mutation of the RELN gene, and LCHd could be related to the TUBA1A gene. ...
LIS1 mutations cause a more severe malformation in the posterior brain regions. ...LCHa is related to mutation in LI …
Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis.
Leventer RJ, Pilz DT, Matsumoto N, Ledbetter DH, Dobyns WB. Leventer RJ, et al. Mol Med Today. 2000 Jul;6(7):277-84. doi: 10.1016/s1357-4310(00)01730-5. Mol Med Today. 2000. PMID: 10859564 Review.
Lissencephaly includes agyria and pachygyria, and merges with subcortical band heterotopia. Current molecular genetic techniques combined with the identification of affected patients have enabled the detection of two of the genes responsible: LIS1 (PAFAH1B1) on chro …
Lissencephaly includes agyria and pachygyria, and merges with subcortical band heterotopia. Current molecular genetic techniques comb …
Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case report.
Simoes C, Graña M, Rodriguez S, Baltar Yanes F, Tapié A, Dell'Oca N, Naya H, Raggio V, Spangenberg L. Simoes C, et al. BMC Pediatr. 2022 Sep 14;22(1):545. doi: 10.1186/s12887-022-03595-6. BMC Pediatr. 2022. PMID: 36100855 Free PMC article.
CONCLUSIONS: Through this work we found a novel de novo mutation in LIS1/PAFAH1B1 gene, as a likely cause of a rare disease in a young boy with non-specific clinical symptoms. The mutation found correlates with the phenotype studied since the loss of function …
CONCLUSIONS: Through this work we found a novel de novo mutation in LIS1/PAFAH1B1 gene, as a likely cause of a rare disease in …
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. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.
Dobyns WB, Reiner O, Carrozzo R, Ledbetter DH. Dobyns WB, et al. JAMA. 1993 Dec 15;270(23):2838-42. doi: 10.1001/jama.270.23.2838. JAMA. 1993. PMID: 7907669 Review.
We also describe the recent discovery of the lissencephaly gene (LIS1), deletions of which have been implicated as the cause of this disorder in many patients. ...If only ILS patients with the classical form are considered, we detected deletions in eight (38%) of 21 …
We also describe the recent discovery of the lissencephaly gene (LIS1), deletions of which have been implicated as the cause o …
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.
Di Donato N, Timms AE, Aldinger KA, Mirzaa GM, Bennett JT, Collins S, Olds C, Mei D, Chiari S, Carvill G, Myers CT, Rivière JB, Zaki MS; University of Washington Center for Mendelian Genomics; Gleeson JG, Rump A, Conti V, Parrini E, Ross ME, Ledbetter DH, Guerrini R, Dobyns WB. Di Donato N, et al. Genet Med. 2018 Nov;20(11):1354-1364. doi: 10.1038/gim.2018.8. Epub 2018 Apr 19. Genet Med. 2018. PMID: 29671837 Free PMC article.
Many were tested for deletion 17p13.3 and mutations of LIS1, DCX, and ARX, but few other genes. Among those tested, 216 remained unsolved and were tested by a targeted panel of 17 genes (ACTB, ACTG1, ARX, CRADD, DCX, LIS1, TUBA1A, TUBA8, TUBB2B, TUBB, TUBB3, …
Many were tested for deletion 17p13.3 and mutations of LIS1, DCX, and ARX, but few other genes. Among those tested, 216 remain …
Targeted mutagenesis of Lis1 disrupts cortical development and LIS1 homodimerization.
Cahana A, Escamez T, Nowakowski RS, Hayes NL, Giacobini M, von Holst A, Shmueli O, Sapir T, McConnell SK, Wurst W, Martinez S, Reiner O. Cahana A, et al. Proc Natl Acad Sci U S A. 2001 May 22;98(11):6429-34. doi: 10.1073/pnas.101122598. Epub 2001 May 8. Proc Natl Acad Sci U S A. 2001. PMID: 11344260 Free PMC article.
Lissencephaly is a severe brain malformation in humans. To study the function of the gene mutated in lissencephaly (LIS1), we deleted the first coding exon from the mouse Lis1 gene. The deletion resulted in a shorter protein (sLIS1) that initiat …
Lissencephaly is a severe brain malformation in humans. To study the function of the gene mutated in lissencephaly ( …
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 …
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 lissencephaly …
In addition, neither the mutation type nor the location of the mutation were found to predict the severity of LIS1-rela …
35 results