Lissencephaly 1
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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
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
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- Microcephaly
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- Phenylketonuria
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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