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
1996 1
2007 1
2011 3
2012 1
2014 1
2016 3
2017 1
2018 1
2019 3
2020 1
2022 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

14 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Lissencephaly 6 with microcephaly"
Page 1
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.
Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, Krumbiegel M, Reis A, Thiel CT, Popp B. Hebebrand M, et al. Orphanet J Rare Dis. 2019 Feb 11;14(1):38. doi: 10.1186/s13023-019-1020-x. Orphanet J Rare Dis. 2019. PMID: 30744660 Free PMC article. Review.
The most commonly reported features were developmental delay (98%), anomalies of the corpus callosum (96%), microcephaly (76%) and lissencephaly (agyria-pachygyria) (70%), although reporting was incomplete in the different studies. ...Missense variants cluster in th …
The most commonly reported features were developmental delay (98%), anomalies of the corpus callosum (96%), microcephaly (76%) and …
Clinical and epidemiological aspects of microcephaly in the state of Piaui, northeastern Brazil, 2015-2016.
Almeida IMLM, Ramos CV, Rodrigues DC, Sousa AC, Nascimento MLCAPCD, Silva MVBD, Batista FMA, Santos JPD, Oliveira RS, Soares FAF, Xavier SCDC, Carvalho-Costa FA. Almeida IMLM, et al. J Pediatr (Rio J). 2019 Jul-Aug;95(4):466-474. doi: 10.1016/j.jped.2018.04.013. Epub 2018 Jun 29. J Pediatr (Rio J). 2019. PMID: 29963988 Free article.
OBJECTIVES: To describe aspects of the microcephaly epidemic in the state of Piaui. METHODS: All cases of congenital microcephaly confirmed in the state between 2015 and 2016 were included (n=100). Investigation forms of the Regional Reference Center for Microcep …
OBJECTIVES: To describe aspects of the microcephaly epidemic in the state of Piaui. METHODS: All cases of congenital microcephaly …
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
Bahi-Buisson N, Poirier K, Fourniol F, Saillour Y, Valence S, Lebrun N, Hully M, Bianco CF, Boddaert N, Elie C, Lascelles K, Souville I; LIS-Tubulinopathies Consortium; Beldjord C, Chelly J. Bahi-Buisson N, et al. Brain. 2014 Jun;137(Pt 6):1676-700. doi: 10.1093/brain/awu082. Brain. 2014. PMID: 24860126
Systematic review of patients' neuroimaging and neuropathological data allowed us to distinguish at least five cortical malformation syndromes: (i) microlissencephaly (n = 12); (ii) lissencephaly (n = 19); (iii) central pachygyria and polymicrogyria-like cortical dysplasia …
Systematic review of patients' neuroimaging and neuropathological data allowed us to distinguish at least five cortical malformation syndrom …
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy.
Naim A, Accogli A, Amadori E, D'Onofrio G, Madia F, Tortora D, Zara F, Striano P, Salpietro V, Severino M. Naim A, et al. Eur J Med Genet. 2022 Nov;65(11):104622. doi: 10.1016/j.ejmg.2022.104622. Epub 2022 Sep 16. Eur J Med Genet. 2022. PMID: 36122673
Variants in KIF5C were first associated a decade ago with microcephaly and malformations of cortical development, with a phenotypic spectrum ranging from polymicrogyria to pachygyria. ...(Glu237Lys) KIF5C variant associated with a distinctive neuroradiological pattern of a …
Variants in KIF5C were first associated a decade ago with microcephaly and malformations of cortical development, with a phenotypic s …
Malformations of cortical development: clinical spectrum in a series of 101 patients and review of the literature (Part I).
Güngör S, Yalnizoğlu D, Turanli G, Saatçi I, Erdoğan-Bakar E, Topçu M. Güngör S, et al. Turk J Pediatr. 2007 Apr-Jun;49(2):120-30. Turk J Pediatr. 2007. PMID: 17907510 Review.
Routine EEG and MRI were obtained. The patients were between 1 month and 19 years of age (mean: 6.1 +/- 4.4 years). Fifty-four patients were diagnosed with polymicrogyria (PMG), 23 patients with lissencephaly, 12 patients with schizencephaly, and 12 patients with he …
Routine EEG and MRI were obtained. The patients were between 1 month and 19 years of age (mean: 6.1 +/- 4.4 years). Fifty-four patien …
Congenital Zika Virus Infection: Beyond Neonatal Microcephaly.
Melo AS, Aguiar RS, Amorim MM, Arruda MB, Melo FO, Ribeiro ST, Batista AG, Ferreira T, Dos Santos MP, Sampaio VV, Moura SR, Rabello LP, Gonzaga CE, Malinger G, Ximenes R, de Oliveira-Szejnfeld PS, Tovar-Moll F, Chimelli L, Silveira PP, Delvechio R, Higa L, Campanati L, Nogueira RM, Filippis AM, Szejnfeld J, Voloch CM, Ferreira OC Jr, Brindeiro RM, Tanuri A. Melo AS, et al. JAMA Neurol. 2016 Dec 1;73(12):1407-1416. doi: 10.1001/jamaneurol.2016.3720. JAMA Neurol. 2016. PMID: 27695855
MAIN OUTCOMES AND MEASURES: Description of the major lesions caused by ZIKV congenital infection. RESULTS: Of the 11 infants, 7 (63.6%) were female, and the median (SD) maternal age at delivery was 25 (6) years. ...The median (SD) cephalic perimeter at birth was 31 …
MAIN OUTCOMES AND MEASURES: Description of the major lesions caused by ZIKV congenital infection. RESULTS: Of the 11 infants, 7 (63.6 …
Brain magnetic resonance findings in symptomatic congenital cytomegalovirus infection.
Manara R, Balao L, Baracchini C, Drigo P, D'Elia R, Ruga EM. Manara R, et al. Pediatr Radiol. 2011 Aug;41(8):962-70. doi: 10.1007/s00247-011-2120-5. Epub 2011 May 20. Pediatr Radiol. 2011. PMID: 21597906
RESULTS: Microcephaly, cerebral palsy and epilepsy were found in eight, six and seven patients, respectively (all concomitant in 6); 12 children developed sensory-neural hearing loss (SNHL). ...Ventriculomegaly (9/14), migration disorders (6/14 polymicrogyria …
RESULTS: Microcephaly, cerebral palsy and epilepsy were found in eight, six and seven patients, respectively (all concomitant in 6 …
Electrographic pattern recognition: A simple tool to predict clinical outcome in children with lissencephaly.
Jauhari P, Farmania R, Chakrabarty B, Kumar A, Gulati S. Jauhari P, et al. Seizure. 2020 Dec;83:175-180. doi: 10.1016/j.seizure.2020.10.020. Epub 2020 Oct 31. Seizure. 2020. PMID: 33161247 Free article.
EEG findings were categorized into three patterns and its association with clinical severity was studied. RESULTS: Twenty-eight children (males = 17) with lissencephaly were enrolled. Median age at diagnosis was 6.5months (range 3days-3years). ...Grade 4 (diffuse pa …
EEG findings were categorized into three patterns and its association with clinical severity was studied. RESULTS: Twenty-eight children (ma …
DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation.
Urquhart JE, Beaman G, Byers H, Roberts NA, Chervinsky E, O'Sullivan J, Pilz D, Fry A, Williams SG, Bhaskar SS, Khayat M, Simanovsky N, Shachar IB, Shalev SA, Newman WG. Urquhart JE, et al. Clin Genet. 2016 Jun;89(6):724-7. doi: 10.1111/cge.12734. Epub 2016 Feb 3. Clin Genet. 2016. PMID: 26757254
Lissencephaly is a phenotypically and genetically heterogeneous group of cortical brain malformations due to abnormal neuronal migration. ...A consanguineous family was ascertained with three siblings affected by a severe prenatal neurodevelopmental disorder characterised …
Lissencephaly is a phenotypically and genetically heterogeneous group of cortical brain malformations due to abnormal neuronal migrat …
Zika Virus-Associated Micrencephaly: A Thorough Description of Neuropathologic Findings in the Fetal Central Nervous System.
Štrafela P, Vizjak A, Mraz J, Mlakar J, Pižem J, Tul N, Županc TA, Popović M. Štrafela P, et al. Arch Pathol Lab Med. 2017 Jan;141(1):73-81. doi: 10.5858/arpa.2016-0341-SA. Epub 2016 Oct 11. Arch Pathol Lab Med. 2017. PMID: 27726416 Free article.
CONTEXT: -The 2015 outbreak of Zika virus in Brazil resulted in a 20-times increased prevalence of congenital microcephaly in stillborns and neonates and was instrumental in raising the suspicion of a causal association between Zika virus and microcephaly. ...DESIGN …
CONTEXT: -The 2015 outbreak of Zika virus in Brazil resulted in a 20-times increased prevalence of congenital microcephaly in stillbo …
14 results