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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). ...Head computer tomography scans revealed calcifications in 78/95 ( …
OBJECTIVES: To describe aspects of the microcephaly epidemic in the state of Piaui. METHODS: All cases of congenital microcephaly …
Microcephaly and Zika virus: neonatal neuroradiological aspects.
Cavalheiro S, Lopez A, Serra S, Da Cunha A, da Costa MD, Moron A, Lederman HM. Cavalheiro S, et al. Childs Nerv Syst. 2016 Jun;32(6):1057-60. doi: 10.1007/s00381-016-3074-6. Epub 2016 Apr 14. Childs Nerv Syst. 2016. PMID: 27080092 Free PMC article.
PURPOSE: The aim of this study is to describe some radiological features in the newborns with microcephaly caused by Zika virus infection during pregnancy. METHODS: We radiologically analyzed 13 cases of newborns with microcephaly born to mothers who were infected b …
PURPOSE: The aim of this study is to describe some radiological features in the newborns with microcephaly caused by Zika virus infec …
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 …
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 …
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 …
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 …
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 …
LIS1 duplication: expanding the phenotype.
Lockrow JP, Holden KR, Dwivedi A, Matheus MG, Lyons MJ. Lockrow JP, et al. J Child Neurol. 2012 Jun;27(6):791-5. doi: 10.1177/0883073811425972. Epub 2011 Dec 21. J Child Neurol. 2012. PMID: 22190508
Disruptions to LIS1 gene expression result in neuronal migration abnormalities. LIS1 heterozygosity is a significant cause of lissencephaly, while overexpression has recently been noted in cases of microcephaly, ventriculomegaly, and dysgenesis of the corpus callosu …
Disruptions to LIS1 gene expression result in neuronal migration abnormalities. LIS1 heterozygosity is a significant cause of lissencepha …
Primary Dwarfism, Microcephaly, and Chorioretinopathy due to a PLK4 Mutation in Two Siblings.
Martín-Rivada Á, Pozo-Román J, Güemes M, Ortiz-Cabrera NV, Pérez-Jurado LA, Argente J. Martín-Rivada Á, et al. Horm Res Paediatr. 2020;93(9-10):567-572. doi: 10.1159/000514280. Epub 2021 Mar 23. Horm Res Paediatr. 2020. PMID: 33756487
INTRODUCTION: Primary autosomal recessive microcephalies (MCPHs) are characterized by primary dwarfism with MCPH and may present delayed psychomotor development and visual impairment. ...They also presented severe intellectual disability, lissencephaly/pachygyria, s …
INTRODUCTION: Primary autosomal recessive microcephalies (MCPHs) are characterized by primary dwarfism with MCPH and may present dela …
13 results