What's New

Last Posted: Aug 17, 2024

• Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield.
  Shogo Furukawa, et al. Journal of human genetics 2024 0
• Multiplex Consanguineous Family Highlights CLASP1 as a Candidate Gene for Lissencephaly.
  Rawan Alsafh, et al. Neurology. Genetics 2024 0 (4) e200172
• Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
  Daniz Kooshavar et al. Brain Commun 2024 6(2) fcae056
• Lissencephaly With Cerebellar Hypoplasia Due To a New RELN Mutation.
  Liliana Igreja, et al. Pediatric neurology 2023 0 137-140
• Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders.
  González-Morón Dolores, et al. PloS one 2017 0 (9) e0185103
• Identification of a novel PAFAH1B1 missense mutation as a cause of mild lissencephaly with basal ganglia calcification.
  Shi Chang-He, et al. Brain & development 2018 0 (1) 29-35
• Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.
  Polla Daniel L, et al. European journal of human genetics : EJHG 2019 0 (8) 1235-1243
• Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations.
  Accogli Andrea, et al. Seizure 2020 0 145-152
• Lack of association of TP73 with amyotrophic lateral sclerosis in a large cohort of cases.
  Dilliott Allison A, et al. Neurobiology of aging 2022 0 109-111
• [Prenatal diagnosis and genetic analysis of a fetus with Miller-Dieker syndrome].
  Duan Fuhua, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 0 (1) 71-73
• Functional Polymorphisms in the p53 Pathway Genes on the Genetic Susceptibility to Zika Virus Teratogenesis.
  Gomes Julia A, et al. Frontiers in cellular and infection microbiology 2021 0 641413
• Investigation of the most common clinical and imaging findings and the role of tubulin genes in the etiology of malformations of cortical development
  Aksel KiliÇarslan Özge, et al. Turkish journal of medical sciences 2020 7
• Prenatal diagnosis of rare genetic conditions at a tertiary care hospital in Karachi.
  Karim Kouser et al. JPMA. The Journal of the Pakistan Medical Association 2020 Apr 70(4) 724-727
• Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic.
  Hewson Stacy et al. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2018 45(1) 93-96
• Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.
  Di Donato Nataliya, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 4
• The functional polymorphisms of LIS1 are associated with acute myeloid leukemia risk in a Han Chinese population.
  Cao Songyu, et al. Leukemia research 2017 1 7-11
• A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract.
  Hertecant Jozef, et al. Meta gene 2016 9 124-7
• Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
  Di Donato Nataliya, et al. American journal of medical genetics. Part A 2016 5
• Rare ACTG1 variants in fetal microlissencephaly.
  Poirier Karine, et al. European journal of medical genetics 2015 8 (8) 416-8
• A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion.
  Du Xiaonan, et al. BMC medical genetics 2014 0 (1) 62
• Lissencephaly
  From NCATS Genetic and Rare Diseases Information Center
• Lissencephaly 1
  From NCATS Genetic and Rare Diseases Information Center
• Lissencephaly 2
  From NCATS Genetic and Rare Diseases Information Center
• Lissencephaly X-linked
  From NCATS Genetic and Rare Diseases Information Center
• X-linked lissencephaly with abnormal genitalia
  From NCATS Genetic and Rare Diseases Information Center
• LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity.
  Saillour Yoann, et al. Archives of neurology 2009 8 (8) 1007-15
• Evidence for association between structural variants in lissencephaly-related genes and executive deficits in schizophrenia or bipolar patients from a Spanish isolate population.
  Tabarés-Seisdedos Rafael, et al. Psychiatric genetics 2008 12 (6) 313-7
• Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.
  Morris-Rosendahl D J, et al. Clinical genetics 2008 11 (5) 425-33
• The location of DCX mutations predicts malformation severity in X-linked lissencephaly.
  Leger Pierre-Louis, et al. Neurogenetics 2008 10 (4) 277-85
• Variations in genes regulating neuronal migration predict reduced prefrontal cognition in schizophrenia and bipolar subjects from mediterranean Spain: a preliminary study.
  Tabarés-Seisdedos R, et al. Neuroscience 2006 0 (4) 1289-300