Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1990 1
2001 1
2002 1
2013 1
2020 1
2021 1
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

7 results

Results by year

Filters applied: . Clear all
Proximity search should include two or more words. Proximity operator ignored :~0
Page 1
Lissencephaly: Update on diagnostics and clinical management.
Koenig M, Dobyns WB, Di Donato N. Koenig M, et al. Eur J Paediatr Neurol. 2021 Nov;35:147-152. doi: 10.1016/j.ejpn.2021.09.013. Epub 2021 Oct 7. Eur J Paediatr Neurol. 2021. PMID: 34731701 Review.
Lissencephaly represents a spectrum of rare malformations of cortical development including agyria, pachygyria and subcortical band heterotopia. The progress in molecular genetics has led to identification of 31 lissencephaly-associated genes with the overall diagnostic yi …
Lissencephaly represents a spectrum of rare malformations of cortical development including agyria, pachygyria and subcortical band h …
Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.
Guerrini R, Carrozzo R. Guerrini R, et al. Seizure. 2001 Oct;10(7):532-43; quiz 544-7. doi: 10.1053/seiz.2001.0650. Seizure. 2001. PMID: 11749114 Free article. Review.
We review here those malformations of the cerebral cortex which are most often observed in epilepsy patients, for which a genetic basis has been elucidated or is suspected and give indications for genetic testing. There are three forms of lissencephaly (agyria-pachygyria) …
We review here those malformations of the cerebral cortex which are most often observed in epilepsy patients, for which a genetic basis has …
Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.
Guerrini R, Carrozzo R. Guerrini R, et al. Seizure. 2002 Apr;11 Suppl A:532-43; quiz 544-7. Seizure. 2002. PMID: 12185771 Review.
We review here those malformations of the cerebral cortex which are most often observed in epilepsy patients, for which a genetic basis has been elucidated or is suspected and give indications for genetic testing. There are three forms of lissencephaly (agyria-pachygyria) …
We review here those malformations of the cerebral cortex which are most often observed in epilepsy patients, for which a genetic basis has …
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations.
Accogli A, Severino M, Riva A, Madia F, Balagura G, Iacomino M, Carlini B, Baldassari S, Giacomini T, Croci C, Pisciotta L, Messana T, Boni A, Russo A, Bilo L, Tonziello R, Coppola A, Filla A, Mecarelli O, Casalone R, Pisani F, Falsaperla R, Marino S, Parisi P, Ferretti A, Elia M, Luchetti A, Milani D, Vanadia F, Silvestri L, Rebessi E, Parente E, Vatti G, Mancardi MM, Nobili L, Capra V, Salpietro V, Striano P, Zara F. Accogli A, et al. Seizure. 2020 Aug;80:145-152. doi: 10.1016/j.seizure.2020.05.023. Epub 2020 Jun 3. Seizure. 2020. PMID: 32570172 Free article.
The diagnostic yield was higher in patients with lissencephaly/pachygyria (60 %) (p = 0.001), cobblestone malformation (50 %), and subcortical band heterotopia (SBH) (40 %). ...
The diagnostic yield was higher in patients with lissencephaly/pachygyria (60 %) (p = 0.001), cobblestone malformation (50 %), and su …
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.
Dawood M, Akay G, Mitani T, Marafi D, Fatih JM, Gezdirici A, Najmabadi H, Kahrizi K, Punetha J, Grochowski CM, Du H, Jolly A, Li H, Coban-Akdemir Z, Sedlazeck FJ, Hunter JV, Jhangiani SN, Muzny D, Pehlivan D, Posey JE, Carvalho CMB, Gibbs RA, Lupski JR. Dawood M, et al. Am J Med Genet A. 2023 Mar;191(3):794-804. doi: 10.1002/ajmg.a.63080. Epub 2023 Jan 4. Am J Med Genet A. 2023. PMID: 36598158 Free PMC article.
Here, using exome sequencing (ES) and family-based rare variant analyses, we report a homozygous, frameshifting indel deleting the canonical stop codon in the last exon of PPP1R35 [Chr7: c.753_*3delGGAAGCGTAGACCinsCG (p.Trp251Cysfs*22)]; the variant allele maps in a 3.7 Mb block …
Here, using exome sequencing (ES) and family-based rare variant analyses, we report a homozygous, frameshifting indel deleting the canonical …
Prenatal diagnosis of autosomal dominant microcephaly and postnatal evaluation with magnetic resonance imaging.
Persutte WH, Kurczynski TW, Chaudhuri K, Lenke RR, Woldenberg L, Brinker RA. Persutte WH, et al. Prenat Diagn. 1990 Oct;10(10):631-42. doi: 10.1002/pd.1970101003. Prenat Diagn. 1990. PMID: 2274488
Neurologic assessment of the neonate with magnetic resonance imaging showed abnormal development of the brain, with small cerebellar and cerebral hemispheres, and pachygyria. These images are compared with the magnetic resonance images of the mother. ...
Neurologic assessment of the neonate with magnetic resonance imaging showed abnormal development of the brain, with small cerebellar and cer …
New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.
Bahi-Buisson N, Souville I, Fourniol FJ, Toussaint A, Moores CA, Houdusse A, Lemaitre JY, Poirier K, Khalaf-Nazzal R, Hully M, Leger PL, Elie C, Boddaert N, Beldjord C, Chelly J, Francis F; SBH-LIS European Consortium. Bahi-Buisson N, et al. Brain. 2013 Jan;136(Pt 1):223-44. doi: 10.1093/brain/aws323. Brain. 2013. PMID: 23365099 Free PMC article.
To clarify this point, we investigated a cohort of 180 patients who were referred with the agyria-pachygyria subcortical band heterotopia spectrum. DCX mutations were identified in 136 individuals. ...
To clarify this point, we investigated a cohort of 180 patients who were referred with the agyria-pachygyria subcortical band heterot …