Works matching DE "AICARDI syndrome"

Results: 56

Aicardi syndrome: when to suspect the unexpected.

Published in:

Epileptic Disorders, 2016, v. 18, n. 2, p. 216, doi. 10.1684/epd.2016.0826

By:

Nascimento, Fábio A.;
Aljaafari, Danah;
Rahim, Massie;
Krings, Timo;
Andrade, Danielle

Publication type:

Article

Aicardi Syndrome in an Infant with Migrating Focal Seizure.

Published in:

Neurology India, 2024, v. 72, n. 2, p. 427, doi. 10.4103/ni.ni_1143_22

By:

Agrawal, Raju;
Das, Shambaditya;
Dubey, Souvik;
Pandit, Alak

Publication type:

Article

Teaching Neuroimage - Aicardi Syndrome: A Triad of Epileptic Spasms, Agenesis of Corpus Callosum, and Chorio-Retinal Lacunae.

Published in:

Neurology India, 2023, v. 71, n. 5, p. 1114, doi. 10.4103/0028-3886.388086

By:

Mahesan, Aakash;
Kamila, Gautam;
Puri, Prabhav;
Kumar, Vinod;
Kumar, Atin;
Jauhari, Prashant;
Chakrabarty, Biswaroop;
Gulati, Sheffali

Publication type:

Article

Triad of gloom in a girl child: Aicardi syndrome.

Published in:

2018

By:

Saini, Lokesh;
Dekate, Parag Shankarao;
Prasad, V. S. V.;
Varma, Dandu Ravi;
V Prasad, V S

Publication type:

journal article

Aicardi syndrome: a case report.

Published in:

Brazilian Journal of Mother & Child Health (BJMCH) / Revista Brasileira de Saude Materno Infantil (RBSMI), 2018, v. 18, n. 4, p. 835, doi. 10.1590/1806-93042018000400009

By:

de Oliveira Menezes, Jean Carlos;
da Silva, Francisco Elvis Farias;
Félix, Érica Galdino;
Alchieri, João Carlos;
da Silva, Joelma Gomes

Publication type:

Article

Aicardi Syndrome Is a Genetically Heterogeneous Disorder.

Published in:

Genes, 2023, v. 14, n. 8, p. 1565, doi. 10.3390/genes14081565

By:

Ha, Thuong T.;
Burgess, Rosemary;
Newman, Morgan;
Moey, Ching;
Mandelstam, Simone A.;
Gardner, Alison E.;
Ivancevic, Atma M.;
Pham, Duyen;
Kumar, Raman;
Smith, Nicholas;
Patel, Chirag;
Malone, Stephen;
Ryan, Monique M.;
Calvert, Sophie;
van Eyk, Clare L.;
Lardelli, Michael;
Berkovic, Samuel F.;
Leventer, Richard J.;
Richards, Linda J.;
Scheffer, Ingrid E.

Publication type:

Article

A rare manifestation of specific learning disability in a child with Aicardi syndrome.

Published in:

Acta Oto-Laryngologica Case Reports, 2016, v. 1, n. 1, p. 17, doi. 10.1080/23772484.2016.1192949

By:

Jain, Saransh;
Dinesh, Nagashreeya

Publication type:

Article

Evaluation of immunological abnormalities in patients with rare syndromes.

Published in:

Central European Journal of Immunology, 2022, v. 47, n. 4, p. 299, doi. 10.5114/ceji.2022.124080

By:

GUL, YAHYA;
KAPAKLI, HASAN;
AYTEKIN, SELMA EROL;
GUNER, ŞUKRU NAIL;
KELES, SEVGI;
GÜL ZAMANI, AYŞE;
YILDIRIM, MAHMUT SELMAN;
REISLI, ÏSMAIL

Publication type:

Article

Endocrinopathies in Aicardi Goutières syndrome—A descriptive case series.

Published in:

Clinical Case Reports, 2020, v. 8, n. 11, p. 2181, doi. 10.1002/ccr3.3081

By:

Worth, Chris;
Briggs, Tracy A;
Padidela, Raja;
Balmer, Eleanor;
Skae, Mars

Publication type:

Article

Aicardi syndrome: Clinical spectrum of a rare disorder.

Published in:

Journal of Family Medicine & Primary Care, 2025, v. 14, n. 3, p. 1145, doi. 10.4103/jfmpc.jfmpc_1065_24

By:

Jakhar, Sunisha;
Yadav, Dinkar;
Bhalla, Kapil;
Jindal, Komal;
Acharya, Rohan

Publication type:

Article

RNase H2, mutated in Aicardi‐Goutières syndrome, resolves co-transcriptional R-loops to prevent DNA breaks and inflammation.

Published in:

Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30604-0

By:

Cristini, Agnese;
Tellier, Michael;
Constantinescu, Flavia;
Accalai, Clelia;
Albulescu, Laura Oana;
Heiringhoff, Robin;
Bery, Nicolas;
Sordet, Olivier;
Murphy, Shona;
Gromak, Natalia

Publication type:

Article

The evaluation of the retrobulbar orbital fat tissue and optic nerve with strain ratio elastography.

Published in:

Medical Ultrasonography, 2015, v. 17, n. 1, p. 45, doi. 10.11152/mu.2013.2066.171.muv

By:

Vural, Murat;
Acar, Dilek;
Toprak, Uğur;
Numan Alp, Mehmet;
Gürbüz Köz, Özlem;
Sayın, Bige;
Kuşçuoğlu Abat, Gizem

Publication type:

Article

3q21 deletion affects GATA2 and is associated with myelodysplastic syndrome.

Published in:

British Journal of Haematology, 2022, v. 196, n. 4, p. 1120, doi. 10.1111/bjh.17902

By:

Greenmyer, Jacob R.;
Thompson, Whitney S.;
Hoppman, Nicole L.;
Khan, Shakila;
Patnaik, Mrinal S.;
Schimmenti, Lisa A.;
Kohorst, Mira A.

Publication type:

Article

Intracranial arachnoid cysts.

Published in:

Child's Nervous System, 2023, v. 39, n. 10, p. 2771, doi. 10.1007/s00381-023-06066-0

By:

Ahmed, A. Karim;
Cohen, Alan R.

Publication type:

Article

Palliative epilepsy surgery in Aicardi syndrome: a case series and review of literature.

Published in:

Child's Nervous System, 2014, v. 30, n. 3, p. 497, doi. 10.1007/s00381-013-2259-5

By:

Kasasbeh, Aimen;
Gurnett, Christina;
Smyth, Matthew

Publication type:

Article

MOWAT-WILSON SYNDROME: DEEP PHENOTYPING AND MOLECULAR CHARACTERISATION OF TWELVE NEW INDIVIDUALS.

Published in:

Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2025, v. 88, n. 1, p. 26, doi. 10.26650/IUITFD.1597597

By:

ALTUNOĞLU, Umut;
GÜNEŞ, Nilay;
TURGUT, Gözde Tutku;
KALAYCI, Tuğba;
ASLANGER, Ayça Dilruba;
DERBENT, Murat;
ERASLAN, Serpil;
KARAMAN, Birsen;
UYGUNER, Zehra Oya;
TÜYSÜZ, Beyhan;
ALANAY, Yasemin;
KAYSERİLİ, Hülya

Publication type:

Article

Misdiagnosed Aicardi Goutières Syndrome Patient: A Case Report.

Published in:

Reviews in Clinical Medicine, 2021, v. 8, n. 4, p. 166

By:

Vakilzadeh, Mohammad Moein;
Ahangari, Najmeh;
Karimiani, Ehsan Ghayoor;
Toosi, Mehran Beiraghi

Publication type:

Article

Aicardi-Goutieres Syndrome-A Case Report.

Published in:

Journal of Bangladesh College of Physicians & Surgeons, 2022, v. 40, n. 2, p. 132, doi. 10.3329/jbcps.v40i2.58697

By:

LIZA, NOOR-A-SABAH;
ANWAR, S. K. SERJINA;
KUNDU, GOPEN KUMAR

Publication type:

Article

Full Mouth Rehabilitation of a Child with Aicardia-Goutières: A Rare Syndrome.

Published in:

Journal of Clinical & Diagnostic Research, 2023, v. 17, n. 1, p. 19, doi. 10.7860/JCDR/2023/58913.17383

By:

PATHAK, PRADNYA DILEEP;
SHAH, PREETAM P.;
LAKADE, LAXMI S.;
SHINDE, MAYA U.

Publication type:

Article

146th Annual Meeting American Neurological Association.

Published in:: 2021
Publication type:: journal article

Choroidal neovascularization and bevacizumab therapy in Aicardi syndrome.

Published in:

2013

By:

Wenick, Adam;
Paskowitz, Daniel;
Tauqir, M.;
Nguyen, Quan

Publication type:

Letter

POTÊNCIAL TERAPÊUTICO DA CANNABIS MEDICINAL NO TRATAMENTO DAS CONVULSÕES EM PACIENTES COM SÍNDROME DE AICARDI.

Published in:

Revista Foco (Interdisciplinary Studies Journal), 2025, v. 18, n. 4, p. 1, doi. 10.54751/revistafoco.v18n4-094

By:

Luana de Souza, Letícia;
Caroline de Souza, Anne;
Silva Oliveira, Geanne;
Pereira Bezerra, Yuri Charllub

Publication type:

Article

Term newborn with microphthalmia, encephalocele and linear skin defect.

Published in:

European Journal of Pediatric Dermatology, 2021, v. 31, n. 2, p. 95

By:

Franco Fuenmayor, M. E.;
Huff, M. L.

Publication type:

Article

Independent variant analysis of TEAD1 and OCEL1 in 38 Aicardi syndrome patients.

Published in:

Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 2, p. 117, doi. 10.1002/mgg3.250

By:

Wong, Bibiana K. Y.;
Sutton, Vernon R.;
Lewis, Richard A.;
Van den Veyver, Ignatia B.

Publication type:

Article

Association between Macular Thickness Profiles and Visual Function in Healthy Eyes: The Singapore Epidemiology of Eye Diseases (SEED) Study.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-63063-y

By:

Poh, Stanley;
Tham, Yih-Chung;
Chee, Miao Li;
Dai, Wei;
Majithia, Shivani;
Soh, Zhi Da;
Fenwick, Eva K.;
Tao, Yijin;
Thakur, Sahil;
Rim, Tyler Hyungtaek;
Sabanayagam, Charumathi;
Cheng, Ching-Yu

Publication type:

Article

EVALUATION OF NEWBORN SCAN RESULTS WITH TANDEM MS.

Published in:

2020

By:

Topcu, Cemile;
Gurbilek, Mehmet;
Mihci, Yasemin

Publication type:

Abstract

Rare health conditions 60: mitochondrial encephalo-myopathy, lactic acidosis and stroke-like episodes; Aicardi syndrome; monkeypox; and Ogilvie syndrome.

Published in:

British Journal of Healthcare Assistants, 2022, v. 16, n. 7, p. 328, doi. 10.12968/bjha.2022.16.7.328

By:

Barber, Chris

Publication type:

Article

AGS, SLE, and RNASEH2 mutations: translating insights into therapeutic advances.

Published in:

Journal of Clinical Investigation, 2015, v. 125, n. 1, p. 102, doi. 10.1172/jci78533

By:

Pendergraft III, William F.;
Means, Terry K.

Publication type:

Article

Corrigendum: The Role of Nucleases and Nucleic Acid Editing Enzymes in the Regulation of Self-Nucleic Acid Sensing.

Published in:

2021

By:

Santa, Pauline;
Garreau, Anne;
Serpas, Lee;
Ferriere, Amandine;
Blanco, Patrick;
Soni, Chetna;
Sisirak, Vanja

Publication type:

Correction Notice

The Role of Nucleases and Nucleic Acid Editing Enzymes in the Regulation of Self-Nucleic Acid Sensing.

Published in:

Frontiers in Immunology, 2021, v. 11, p. N.PAG, doi. 10.3389/fimmu.2021.629922

By:

Santa, Pauline;
Garreau, Anne;
Serpas, Lee;
Ferriere, Amandine;
Blanco, Patrick;
Soni, Chetna;
Sisirak, Vanja

Publication type:

Article

Dirty Fish Versus Squeaky Clean Mice: Dissecting Interspecies Differences Between Animal Models of Interferonopathy.

Published in:

Frontiers in Immunology, 2021, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.623650

By:

Rutherford, Holly A.;
Kasher, Paul R.;
Hamilton, Noémie

Publication type:

Article

The importance of evaluating dysphagia in a patient with Aicardi Syndrome.

Published in:

2022

By:

Silva Caldas, Verena;
Tomas Ananias, Pedro Yan;
Baptista Giffoni, Rodolfo;
dos Santos, Gabriele;
Reis Costa, Matheus Gomes;
Campos e Santos, Erica Cristina

Publication type:

Case Study

Imaging Similarities Between Oral-Facial-Digital Syndrome Type 1 and Aicardi Syndrome: Prenatal and Postnatal Magnetic Resonance Imaging (MRI) Findings in 4 Patients.

Published in:

Journal of Child Neurology, 2023, v. 38, n. 1/2, p. 31, doi. 10.1177/08830738221147372

By:

Venkatesan, Charu;
Countee, Elizabeth;
Wong, Beatrix;
Spaeth, Christine;
Kline-Fath, Beth M.;
Nagaraj, Usha D.

Publication type:

Article

Ketogenic Diet Therapy for Epilepsy Associated With Aicardi Syndrome.

Published in:

Journal of Child Neurology, 2021, v. 36, n. 11, p. 1007, doi. 10.1177/08830738211023335

By:

Sanchez, Miguel A. Ramirez;
Cervenka, Mackenzie C.;
Bessone, Stacey K.;
Kossoff, Eric H.

Publication type:

Article

Prenatal and Postnatal Diagnosis and Genetic Background of Corpus Callosum Malformations and Neonatal Follow-Up.

Published in:

Children, 2024, v. 11, n. 7, p. 797, doi. 10.3390/children11070797

By:

Bartek, Virág;
Szabó, István;
Harmath, Ágnes;
Rudas, Gábor;
Steiner, Tidhar;
Fintha, Attila;
Ács, Nándor;
Beke, Artúr

Publication type:

Article

Az Aicardi-szindrómáról öt betegünk kapcsán.

Published in:

Gyermekgyógyászat, 2024, v. 75, n. 4, p. 282

By:

Zsuzsa, Siegler;
Erika, Maka;
Eszter, Kormos;
Márta, Hegyi;
Bence, Ambrus;
Judit, Cservenyák;
Barbara, Patócs;
Tímea, Bodó;
Tímea, Lõrincz-Molnár;
István, Biró;
Péter, Barsi;
András, Fogarasi

Publication type:

Article

Aicardi syndrome.

Published in:

Learning Disability Practice, 2020, v. 23, n. 4, p. 14, doi. 10.7748/ldp.23.4.14.s11

By:

Joanne, Blair

Publication type:

Article

Aicardi Syndrome.

Published in:

2018

By:

Law, Janice C.;
Breazzano, Mark P.;
Eliott, Dean

Publication type:

Image

Smartphones, Video Display Terminals, and Dry Eye Disease in Children.

Published in:

2014

By:

Wagner, Rudolph S.

Publication type:

Editorial

Early arteriopathy in Aicardi–Goutières syndrome 5. Case report and review of literature.

Published in:

Neuroradiology Journal, 2023, v. 36, n. 6, p. 740, doi. 10.1177/19714009231154677

By:

Markovic, Ivana;
Jocic-Jakubi, Bosanka;
Milenkovic, Zoran

Publication type:

Article

Serial Fetal MRI for the Diagnosis of Aicardi Syndrome.

Published in:

Neuroradiology Journal, 2013, v. 26, n. 4, p. 380, doi. 10.1177/197140091302600403

By:

HERGAN, B.;
ATAR, O. D.;
PORETTI, A.;
HUISMAN, T. A. G. M.

Publication type:

Article

Commentary: Cataract surgery in pediatric patients with systemic comorbidities.

Published in:

Indian Journal of Ophthalmology, 2023, v. 71, n. 1, p. 138, doi. 10.4103/ijo.IJO_2217_22

By:

Donimath, Kshitij;
Kaur, Savleen;
Sukhija, Jaspreet

Publication type:

Article

Interhemispheric Cysts with Agenesis of the Corpus Callosum Requiring Open Fenestration.

Published in:

Canadian Journal of Neurological Sciences, 2021, v. 48, n. 5, p. 722, doi. 10.1017/cjn.2020.262

By:

Vivekanandan, Amirti;
Abbass, Mohamad;
Ghare, Aisha;
Hammond, Robert;
Ranger, Adrianna

Publication type:

Article

Isolated, persisting, large choroid plexus cysts should warrant neurosonographic follow-up.

Published in:

2021

By:

Paladini, D.;
Donarini, G.;
Bottelli, L.;
Rossi, A.;
Coltri, A.;
Fulcheri, E.

Publication type:

Case Study

EP01.13: Prenatal diagnosis of Aicardi syndrome: a case report.

Published in:

Ultrasound in Obstetrics & Gynecology, 2017, v. 50, p. 260, doi. 10.1002/uog.18322

By:

Hsieh, C.T.

Publication type:

Article

Case Report: Subtotal Hemispherotomy Modulates the Epileptic Spasms in Aicardi Syndrome.

Published in:

Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.683729

By:

Iimura, Yasushi;
Sugano, Hidenori;
Mitsuhashi, Takumi;
Ueda, Tetsuya;
Karagiozov, Kostadin;
Abe, Shimpei;
Otsubo, Hiroshi

Publication type:

Article

Clinical Non-penetrance Associated with Biallelic Mutations in the RNase H2 Complex.

Published in:

Journal of Clinical Immunology, 2023, v. 43, n. 4, p. 706, doi. 10.1007/s10875-023-01438-2

By:

Crow, Yanick J.;
Gonzalez-Granado, Luis I;
Coarelli, Giulia;
Pierron, Lucie;
Maystadt, Isabelle;
Wagner, Matias;
Zamani, Mina;
Sadeghian, Saeid;
David, Clémence;
Rice, Gillian I

Publication type:

Article

Tofacitinib treatment for psoriatic skin lesions associated with Aicardi-Goutières syndrome 7/Singleton-Merten syndrome 1.

Published in:

2025

By:

Beerepoot, Shanice;
Grinwis, Lucas;
Vanderver, Adeline L.;
van der Knaap, Marjo S.;
Kuijpers, Taco W.

Publication type:

Letter

Population‐based study of rare epilepsy incidence in a US urban population.

Published in:

Epilepsia (Series 4), 2024, v. 65, n. 8, p. 2341, doi. 10.1111/epi.18029

By:

Barbour, Kristen;
Tian, Niu;
Yozawitz, Elissa G.;
Wolf, Steven;
McGoldrick, Patricia E.;
Sands, Tristan T.;
Nelson, Aaron;
Basma, Natasha;
Grinspan, Zachary M.

Publication type:

Article

Jean Aicardi (1926–2015).

Published in:

Journal of Neurology, 2024, v. 271, n. 11, p. 7363, doi. 10.1007/s00415-024-12684-8

By:

Huang, Alisha;
Jafarpour, Saba;
Nishimori, Nicole A.;
Kazerooni, Lilia;
Santoro, Jonathan D.

Publication type:

Article