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Quoted phrase not found in phrase index: "Lissencephaly 6 with microcephaly"
Page 1
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 …
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 …
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 …
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 …
Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype.
Lin PY, Tseng MH, Zenker M, Rao J, Hildebrandt F, Lin SH, Lin CC, Chang JH, Hsu CH, Lee MD, Lin SP, Tsai JD. Lin PY, et al. Orphanet J Rare Dis. 2018 Dec 17;13(1):226. doi: 10.1186/s13023-018-0961-9. Orphanet J Rare Dis. 2018. PMID: 30558655 Free PMC article.
Recently, it has been reported that mutations in KEOPS-encoding genes, including the OSGEP gene, were responsible for GAMOS. RESULTS: Overall, 6 patients from 5 different Taiwanese families were included in our study; the patients had an identical OSGEP gene mutation (c.74 …
Recently, it has been reported that mutations in KEOPS-encoding genes, including the OSGEP gene, were responsible for GAMOS. RESULTS: Overal …
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 …
Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.
Peluso F, Caraffi SG, Zuntini R, Trimarchi G, Ivanovski I, Valeri L, Barbieri V, Marinelli M, Pancaldi A, Melli N, Cesario C, Agolini E, Cellini E, Radio FC, Crisafi A, Napoli M, Guerrini R, Tartaglia M, Novelli A, Gargano G, Zuffardi O, Garavelli L. Peluso F, et al. Genes (Basel). 2021 Jun 24;12(7):962. doi: 10.3390/genes12070962. Genes (Basel). 2021. PMID: 34202629 Free PMC article.
We report on two siblings suffering from different pathogenic conditions, born to consanguineous parents. A multigene panel for brain malformations and microcephaly identified the homozygous splicing variant NM_005886.3:c.1416+1del in the KATNB1 gene in the older sister. . …
We report on two siblings suffering from different pathogenic conditions, born to consanguineous parents. A multigene panel for brain malfor …
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
Six children underwent MRI examination after 2 years of life; in this subgroup, WM abnormalities were extensive and confluent (4/6), bilateral and multifocal (1/6) or absent (1/6). Four children showed a progression of myelination. Ventriculomegaly (9/14), mi …
Six children underwent MRI examination after 2 years of life; in this subgroup, WM abnormalities were extensive and confluent (4/6), …
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 …
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 …
17 results