Works matching DE "LISSENCEPHALY"

Results: 221

Loss of Microtubule-to-Actin Linkage Disrupts Cortical Development.

Published in:

PLoS Biology, 2011, v. 9, n. 10, p. 1, doi. 10.1371/journal.pbio.1001175

By:

Robinson, Richard

Publication type:

Article

Lissencephaly: Clinical and neuroimaging features in children.

Published in:

Revista Mexicana de Neurociencia, 2021, v. 22, n. 4, p. 134, doi. 10.24875/RMN.20000132

By:

Lapo-Córdova, Nathaly S.;
Ruiz-García, Matilde;
Hernández-Antúnez, Blanca G.

Publication type:

Article

Acalvaria with external hydrocephalus: an uncommon case.

Published in:

2018

By:

da Silva, Aldo Jose F

Publication type:

Letter to the Editor

A unique case of lissencephaly with Crouzon syndrome heterozygous for FGFR2 mutation.

Published in:

2018

By:

Tan, Ai Peng;
Mankad, Kshitij

Publication type:

Letter

Neonatal neuroradiological aspects in Zika virus infection.

Published in:

2016

By:

Wiwanitkit, Viroj

Publication type:

Letter

A comparison of core depressive symptom improvement with anxiety symptom reduction for depressed patients treated with fluoxetine.

Published in:

Taiwanese Journal of Psychiatry, 2022, v. 36, n. 2, p. 97, doi. 10.4103/TPSY.TPSY_20_22

By:

Chen, Feng-;
Lin, Ta-;
Lin, Hsin-;
Lin, Ching-

Publication type:

Article

Depression and violent automatism in lissencephaly with epilepsy: A case report.

Published in:

Taiwanese Journal of Psychiatry, 2022, v. 36, n. 2, p. 95, doi. 10.4103/TPSY.TPSY_19_22

By:

Lo, Yi-;
Hsu, Ya-

Publication type:

Article

X-linked Lissencephaly: a Smooth Brain and a Rough Journey for a 15- Year-Old-Patient.

Published in:

Medicina Moderna, 2018, v. 25, n. 3, p. 171, doi. 10.31689/rmm.2018.25.3.171

By:

Zaharia, Marius-Cristian;
Epure, Diana Anamaria;
Streata, Ioana;
Teleanu, Raluca Ioana

Publication type:

Article

A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A.

Published in:

Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 6, p. 599, doi. 10.1002/mgg3.236

By:

Tian, Guoling;
Cristancho, Ana G.;
Dubbs, Holly A.;
Liu, Grant T.;
Cowan, Nicholas J.;
Goldberg, Ethan M.

Publication type:

Article

A Case of Cecal Volvulus Presenting with Chronic Constipation in Lissencephaly.

Published in:

2013

By:

Eun-Kyung Lee;
Ji Eun Kim;
Yun-young Lee;
Saeyoon Kim;
Kwang Hea Choi

Publication type:

Case Study

EP03.12: A comparison between prenatal and postnatal radiologic findings of prenatally diagnosed lissencephaly cases.

Published in:

Ultrasound in Obstetrics & Gynecology, 2017, v. 50, p. 268, doi. 10.1002/uog.18350

By:

Cho, H.

Publication type:

Article

EP02.04: Prenatal ultrasound diagnosis of lissencephaly in the second trimester of gestation.

Published in:

2016

By:

Kozlova, O.

Publication type:

journal article

Prenatal diagnosis of cobblestone lissencephaly associated with Walker-Warburg syndrome based on a specific sonographic pattern.

Published in:

2016

By:

Lacalm, A.;
Nadaud, B.;
Massoud, M.;
Putoux, A.;
Gaucherand, P.;
Guibaud, L.

Publication type:

journal article

P04.20: Prenatal diagnosis and postnatal outcome of severe microcephaly associated to isolated lissencephaly.

Published in:

Ultrasound in Obstetrics & Gynecology, 2014, v. 44, p. 206, doi. 10.1002/uog.14073

By:

Drummond, C.L.;
Pereira, A.C.;
Parreira, B.A.;
Ancona, C.;
Takagi, M.M.;
Bussamra, L.C.;
Aldrighi, J.

Publication type:

Article

P04.10: Miller-Dieker syndrome.

Published in:

Ultrasound in Obstetrics & Gynecology, 2014, v. 44, p. 204, doi. 10.1002/uog.14063

By:

Delgado Gutiérrez, J.;
Quintero, J.;
Saldarriaga, W.

Publication type:

Article

OC12.07: Early (15-20 week) ultrasound findings in type-2 cobblestone cortex lissencephaly.

Published in:

Ultrasound in Obstetrics & Gynecology, 2010, v. 36, n. S1, p. 24, doi. 10.1002/uog.7840

By:

Toi, A.;
Fong, K.;
Chitayat, D.;
Shannon, P.;
Blaser, S.

Publication type:

Article

Prenatal ultrasound findings leading to fetal MRI diagnosis of lissencephaly.

Published in:

2008

By:

Schmid, M.;
Krampl, E.;
Arzt, W.;
Brugger, P. C.;
Blaicher, W.;
Prayer, D.

Publication type:

Abstract

First-trimester ultrasound diagnosis in a recurrent case of Walker-Warburg syndrome.

Published in:

2005

By:

Blin, G.;
Rabbé, A.;
Ansquer, Y.;
Meghdiche, S.;
Floch-Tudal, C.;
Mandelbrot, L.;
Rabbé, A

Publication type:

journal article

Prenatal ultrasound findings of lissencephaly associated with Miller-Dieker syndrome and comparison with pre- and postnatal magnetic resonance imaging.

Published in:

2004

By:

Fong, K. W.;
Ghai, S.;
Toi, A.;
Blaser, S.;
Winsor, E. J. T.;
Chitayat, D.

Publication type:

journal article

How early are fetal cerebral sulci visible at prenatal ultrasound and what is the normal pattern of early fetal sulcal development?

Published in:

2004

By:

Toi, A.;
Lister, W. S.;
Fong, K. W.

Publication type:

journal article

Antenatal diagnosis of isolated lissencephaly by ultrasound and magnetic resonance imaging.

Published in:

Ultrasound in Obstetrics & Gynecology, 1998, v. 12, n. 4, p. 276, doi. 10.1046/j.1469-0705.1998.12040276.x

By:

Greco, P.;
Resta, M.;
Vimercati, A.;
Dicuonzo, F.;
Loverro, G.;
Vicino, M.;
Selvaggi, L.

Publication type:

Article

Combination of Miller-Dieker syndrome and VACTERL association causes extremely severe clinical presentation.

Published in:

European Journal of Pediatrics, 2014, v. 173, n. 11, p. 1541, doi. 10.1007/s00431-013-2099-z

By:

Ueda, Hiroko;
Sugiura, Tokio;
Takeshita, Satoru;
Ito, Koichi;
Kakita, Hiroki;
Nagasaki, Rika;
Kurosawa, Kenji;
Saitoh, Shinji

Publication type:

Article

A rare association of congenital melanocytic nevus and lissencephaly in childhood seizure.

Published in:

2016

By:

Kalwaniya, Sarita;
Choudhary, Pradeep;
Khokhar, Harsh Vardhan;
Yadav, Devendra

Publication type:

Case Study

Case Report: Whole Exome Sequencing Unveils an Inherited Truncating Variant in CNTN6 (p.Ser189Ter) in a Mexican Child with Autism Spectrum Disorder.

Published in:

2020

By:

García-Ortiz, José E.;
Zarazúa-Niño, Ana I.;
Hernández-Orozco, Angélica A.;
Reyes-Oliva, Edwin A.;
Pérez-Ávila, Carlos E.;
Becerra-Solano, Luis E.;
Galán-Huerta, Kame A.;
Rivas-Estilla, Ana M.;
Córdova-Fletes, Carlos

Publication type:

Case Study

Posterior quadrantic dysplasia with localized hemimegalencephaly in a patient with giant congenital melanocytic nevus: First case report.

Published in:

Neuroradiology Journal, 2019, v. 32, n. 3, p. 210, doi. 10.1177/1971400919832474

By:

Kumar, Ishan;
Aggarwal, Priyanka;
Rai, Tulika;
Gupta, Vineeta

Publication type:

Article

GPR56-Related Polymicrogyria.

Published in:

Journal of Child Neurology, 2015, v. 30, n. 13, p. 1819, doi. 10.1177/0883073815583335

By:

Desai, Neelu A.;
Udani, Vrajesh

Publication type:

Article

Prenatal Diagnosis and Postnatal Outcome of Schizencephaly.

Published in:

Journal of Child Neurology, 2015, v. 30, n. 10, p. 1388, doi. 10.1177/0883073814556312

By:

Kutuk, Mehmet Serdar;
Gorkem, Sureyya Burcu;
Bayram, Ayse;
Doganay, Selim;
Canpolat, Mehmet;
Basbug, Mustafa

Publication type:

Article

Response to Correspondence on “Lissencephaly With Brainstem and Cerebellar Hypoplasia and Congenital Cataracts”.

Published in:

2015

By:

Salman, Michael S.;
Abumansour, Iman S.;
Chudley, Albert E.;
Chodirker, Bernard N.;
Wrogemann, Jens

Publication type:

Letter to the Editor

Lissencephaly With Brainstem and Cerebellar Hypoplasia and Congenital Cataracts.

Published in:: Journal of Child Neurology, 2015, v. 30, n. 5, p. 625, doi. 10.1177/0883073813494266
Publication type:: Article

Lissencephaly With Brainstem and Cerebellar Hypoplasia and Congenital Cataracts.

Published in:

2014

By:

Abumansour, Iman S.;
Wrogemann, Jens;
Chudley, Albert E.;
Chodirker, Bernard N.;
Salman, Michael S.

Publication type:

Case Study

Cobblestone Lissencephaly in Schinzel-Giedion Syndrome.

Published in:

Journal of Child Neurology, 2013, v. 28, n. 2, p. 259, doi. 10.1177/0883073812441250

By:

Lach, Boleslaw;
Arredondo, Jorge

Publication type:

Article

Lissencephaly and Band Heterotopia: LIS1, TUBA1A, and DCX Mutations in Hungary.

Published in:

Journal of Child Neurology, 2012, v. 27, n. 12, p. 1534, doi. 10.1177/0883073811436326

By:

Mokánszki, Attila;
Körhegyi, Ivett;
Szabó, Nóra;
Bereg, Edit;
Gergev, Gyurgyinka;
Balogh, Erzsébet;
Bessenyei, Beáta;
Sümegi, Andrea;
Morris-Rosendahl, Deborah J.;
Sztriha, László;
Oláh, Éva

Publication type:

Article

LIS1 Duplication: Expanding the Phenotype.

Published in:

Journal of Child Neurology, 2012, v. 27, n. 6, p. 791, doi. 10.1177/0883073811425972

By:

Lockrow, Jason P.;
Holden, Kenton R.;
Dwivedi, Alka;
Matheus, Maria G.;
Lyons, Michael J.

Publication type:

Article

Evaluation of White Matter Changes in Agyria–Pachygyria Complex Using Diffusion Tensor Imaging.

Published in:

Journal of Child Neurology, 2011, v. 26, n. 4, p. 433, doi. 10.1177/0883073810382452

By:

Yu-Chia Kao;
Peng, Steven Shinn-Forng;
Wen-Chin Weng;
Ming-I Lin;
Wang-Tso Lee

Publication type:

Article

Deletion of 14-3-3ε and CRK: A Clinical Syndrome With Macrocephaly, Developmental Delay, and Generalized Epilepsy.

Published in:

Journal of Child Neurology, 2011, v. 26, n. 2, p. 223, doi. 10.1177/0883073810379638

By:

Tenney, Jeffrey R.;
Hopkin, Robert J.;
Schapiro, Mark B.

Publication type:

Article

A Novel Missense Mutation in LIS1 in a Child With Subcortical Band Heterotopia and Pachygyria Inherited From His Mildly Affected Mother With Somatic Mosaicism.

Published in:

Journal of Child Neurology, 2010, v. 25, n. 6, p. 738, doi. 10.1177/0883073809343312

By:

Mineyko, Aleksandra;
Doja, Asif;
Hurteau, Julie;
Dobyns, William B.;
Das, Soma;
Boycott, Kym M.

Publication type:

Article

Muscular Dystrophy: Central Nervous System α-Dystroglycan Glycosylation Defects and Brain Malformation.

Published in:

Journal of Child Neurology, 2010, v. 25, n. 3, p. 312, doi. 10.1177/0883073809338958

By:

Fagiolari, Gigliola;
Cappellini, Anna;
Cagliani, Rachele;
Prelle, Alessandro;
Lucchini, Valeria;
Fortunato, Francesco;
Locatelli, Federica;
Crugnola, Veronica;
Comi, Giacomo Pietro;
Bresolin, Nereo;
Moggio, Maurizio;
Lamperti, Costanza

Publication type:

Article

Partial Epilepsy in an Adolescent Male With Limb-Girdle Muscular Dystrophy 1B.

Published in:

Journal of Child Neurology, 2009, v. 24, n. 3, p. 346, doi. 10.1177/0883073808323525

By:

Chang-Yong Tsao;
Mendell, Jerry R.

Publication type:

Article

Genotype-Phenotype Correlation in Lissencephaly and Subcortical Band Heterotopia: The Key Questions Answered.

Published in:

Journal of Child Neurology, 2005, v. 20, n. 4, p. 307, doi. 10.1177/08830738050200040701

By:

Leventer, Richard Jacob

Publication type:

Article

Cortical dysplasia resembling human type 2 lissencephaly in mice lacking all three APP family members.

Published in:

EMBO Journal, 2004, v. 23, n. 20, p. 4106, doi. 10.1038/sj.emboj.7600390

By:

Herms, Jochen;
Anliker, Brigitte;
Heber, Sabine;
Ring, Sabine;
Fuhrmann, Martin;
Kretzschmar, Hans;
Sisodia, Sangram;
Müller, Ulrike

Publication type:

Article

DCX, a new mediator of the JNK pathway.

Published in:

EMBO Journal, 2004, v. 23, n. 4, p. 823, doi. 10.1038/sj.emboj.7600079

By:

Gdalyahu, Amos;
Ghosh, Indraneel;
Levy, Talia;
Sapir, Tamar;
Sapoznik, Sivan;
Fishler, Yael;
Azoulai, David;
Reiner, Orly

Publication type:

Article

Novel KIF5C Gene Mutation Leading to Frontal Pachygyria: A Rare Case Report and a Review of the Literature.

Published in:

Journal of Pediatric Neurosciences, 2023, v. 18, n. 4, p. 330, doi. 10.4103/jpn.jpn_42_22

By:

Kotechaa, Udhaya;
Mistri, Mehul;
Shah, Parth;
Shah, Nidhi;
Jain, Vivek;
Goyal, Manisha

Publication type:

Article

Novel KIF5C Gene Mutation Leading to Frontal Pachygyria: A Rare Case Report and a Review of the Literature.

Published in:

Journal of Pediatric Neurosciences, 2023, v. 18, n. 3, p. 330, doi. 10.4103/jpn.jpn_42_22

By:

Kotechaa, Udhaya;
Mistri, Mehul;
Shah, Parth;
Shah, Nidhi;
Jain, Vivek;
Goyal, Manisha

Publication type:

Article

A Cause of Refractory Seizures: Fumarase Deficiency.

Published in:

Journal of Pediatric Neurosciences, 2023, v. 18, n. 2, p. 172, doi. 10.4103/jpn.JPN_105_21

By:

Yekedüz, Merve Koç;
Doğulu, Neslihan;
Öncül, Ümmühan;
Köse, Engin;
Ünal, Özlem;
Eminoğlu, Fatma Tuba

Publication type:

Article

Electroclinical Pattern and Epilepsy Evolution in an Infant with Miller-Dieker Syndrome.

Published in:

Journal of Pediatric Neurosciences, 2018, v. 13, n. 3, p. 302, doi. 10.4103/jpn.JPN_182_17

By:

Falsaperla, Raffaele;
Marino, Simona Domenica;
Marino, Silvia;
Pavone, Piero

Publication type:

Article

Lissencephaly--pachygyria Masquerading as Leukodystrophy on Magnetic Resonance Imaging Brain.

Published in:

Journal of Pediatric Neurosciences, 2017, v. 12, n. 2, p. 154, doi. 10.4103/jpn.JPN_192_16

By:

Israni, Anil Vasudev;
Mandal, Anirban

Publication type:

Article

A Neonate with X-linked Lissencephaly with Ambiguous Genitalia.

Published in:

Journal of Pediatric Neurosciences, 2017, v. 12, n. 1, p. 80, doi. 10.4103/jpn.JPN_122_16

By:

Minocha, Priyanka;
Choudhary, Anita;
Shambhavi;
Sitaraman, Sadasivan

Publication type:

Article

Type 1 lissencephaly and multiple afebrile seizures in a 2-month-old baby.

Published in:

2015

By:

Shibchurn, Mithilesh

Publication type:

Case Study

A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females.

Published in:

Epilepsia (Series 4), 2011, v. 52, n. 5, p. 984, doi. 10.1111/j.1528-1167.2011.02980.x

By:

Ekşioğlu, Yaman Z.;
Pong, Amanda W.;
Takeoka, Masanori

Publication type:

Article

Rare genetic causes of lissencephaly may implicate microtubule-based transport in the pathogenesis of cortical dysplasias.

Published in:

Epilepsia (Series 4), 2010, v. 51, p. 67, doi. 10.1111/j.1528-1167.2010.02853.x

By:

Liu, Judy S.;
Walsh, Christopher A.

Publication type:

Article