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ArticlesPeer ReviewedFull Text
CHD8 haploinsufficiency results in autistic-like phenotypes in mice
Author / Creator:Katayama, Yuta ; Nishiyama, Masaaki ; Shoji, Hirotaka ; Ohkawa, Yasuyuki ; Kawamura, Atsuki ; Sato, Tetsuya ; Suyama, Mikita ; Takumi, Toru ; Miyakawa, Tsuyoshi ; Nakayama, Keiichi I.
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 2016-09, Vol.537 (7622), p.675-679
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Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy
Author / Creator:Roy, Achira ; Skibo, Jonathan ; Kalume, Franck ; Ni, Jing ; Rankin, Sherri ; Lu, Yiling ; Dobyns, William B ; Mills, Gordon B ; Zhao, Jean J ; Baker, Suzanne J ; Millen, Kathleen J
Publisher:England: eLife Science Publications, Ltd
Journal title:eLife, 2015-12, Vol.4
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ArticlesPeer ReviewedFull Text
A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy
Author / Creator:Nguyen, Lam Son ; Schneider, Taiane ; Rio, Marlène ; Moutton, Sébastien ; Siquier-Pernet, Karine ; Verny, Florine ; Boddaert, Nathalie ; Desguerre, Isabelle ; Munich, Arnold ; Rosa, José Luis ; Cormier-Daire, Valérie ; Colleaux, Laurence
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2016-03, Vol.24 (3), p.455-458
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ArticlesPeer ReviewedFull Text
Somatic Development Disorders in Children and Adolescents Affected by Syndromes and Diseases Associated with Neurodysfunction and Hydrocephalus Treated/Untreated Surgically
Author / Creator:Perenc, Lidia ; Guzik, Agnieszka ; Podgórska-Bednarz, Justyna ; Drużbicki, Mariusz
Publisher:Switzerland: MDPI AG
Journal title:International journal of environmental research and public health, 2022-05, Vol.19 (9), p.5712
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ArticlesPeer ReviewedFull Text
Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly
Author / Creator:Woodbury-Smith, Marc ; Deneault, Eric ; Yuen, Ryan K. C. ; Walker, Susan ; Zarrei, Mehdi ; Pellecchia, Giovanna ; Howe, Jennifer L. ; Hoang, Ny ; Uddin, Mohammed ; Marshall, Christian R. ; Chrysler, Christina ; Thompson, Ann ; Szatmari, Peter ; Scherer, Stephen W.
Publisher:England: BioMed Central Ltd
Journal title:Molecular autism, 2017-11, Vol.8 (1), p.59-59, Article 59
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Prenatal diagnosis and delivery of megalencephaly–capillary malformation syndrome
Author / Creator:Porwal, Mokshal ; Anderson, Danyon ; Razzak, Abrahim Nagayoshi ; Fitzgerald, Garrett
Publisher:England: BMJ Publishing Group LTD
Journal title:BMJ case reports, 2022-12, Vol.15 (12), p.e249587
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Reciprocal Relationship between Head Size, an Autism Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8L
Author / Creator:Nebel, Rebecca A. ; Kirschen, Jill ; Cai, Jinlu ; Woo, Young Jae ; Cherian, Koshi ; Abrahams, Brett S.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-06, Vol.10 (6), p.e0129270
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ArticlesPeer ReviewedFull Text
Head Circumferences in Twins With and Without Autism Spectrum Disorders
Author / Creator:Froehlich, Wendy ; Cleveland, Sue ; Torres, Andrea ; Phillips, Jennifer ; Cohen, Brianne ; Torigoe, Tiffany ; Miller, Janet ; Fedele, Angie ; Collins, Jack ; Smith, Karen ; Lotspeich, Linda ; Croen, Lisa A. ; Ozonoff, Sally ; Lajonchere, Clara ; Grether, Judith K. ; Hallmayer, Joachim
Publisher:Boston: Springer US
Journal title:Journal of autism and developmental disorders, 2013-09, Vol.43 (9), p.2026-2037
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ArticlesPeer ReviewedFull Text
Volumetric analysis of cerebrospinal fluid and brain parenchyma in a patient with hydranencephaly and macrocephaly – case report
Author / Creator:Radoš, Milan ; Klarica, Marijan ; Mučić-Pucić, Branka ; Nikić, Ines ; Raguž, Marina ; Galkowski, Valentina ; Mandić, Dora ; Orešković, Darko
Publisher:Croatia: Sveuciliste U Zagrebu
Journal title:Croatian medical journal, 2014-08, Vol.55 (4), p.388-393
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ArticlesPeer ReviewedFull Text
Olfactory nerve hypertrophy: a clue to the presence of ipsilateral megalencephaly
Author / Creator:Iyer, Rajesh Shankar ; Thomas, Bejoy ; Akhtar, Saleem ; Kumar, Praveen
Publisher:England: BMJ Publishing Group LTD
Journal title:BMJ case reports, 2017-10, Vol.2017, p.bcr-2017-222488
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ArticlesPeer ReviewedFull Text
Focal megalencephaly: intraoperative ultrasound imaging in epilepsy surgery
Author / Creator:Baskan, Ozdil ; Silav, Gokalp ; Demirci, Sema ; Canoz, Ozlem ; Turanli, Guzide ; Elmaci, Ilhan
Publisher:Tokyo: Springer Japan
Journal title:Journal of medical ultrasonics (2001), 2015-01, Vol.42 (1), p.127-131
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ArticlesPeer ReviewedFull Text
Hemimegalencephaly: 2D, 3D Ultrasound and MRI Correlation
Author / Creator:Romero, X.C. ; Molina, F.S. ; Pastor, E. ; Amaya, F.
Publisher:Basel, Switzerland: Karger
Journal title:Fetal diagnosis and therapy, 2011-04, Vol.29 (3), p.257-260
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ArticlesPeer ReviewedFull Text
Risk of sensorineural hearing loss in infants with abnormal head size
Author / Creator:Olusanya, Bolajoko
Publisher:India: Medknow Publications
Journal title:Annals of African medicine, 2013-04, Vol.12 (2), p.98-104
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ArticlesPeer ReviewedFull Text
Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spaces—extended spectrum of the condition
Author / Creator:Szczałuba, Krzysztof ; Mierzewska, Hanna ; Obersztyn, Ewa ; Tryfon, Jolanta ; Bekiesińska-Figatowska, Monika ; Szczepanik, Elzbieta ; Chrzanowska, Krystyna ; Bocian, Ewa
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Journal of applied genetics, 2012-05, Vol.53 (2), p.189-191
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ArticlesPeer ReviewedFull Text
Phakomatosis pigmentovascularis type IIB in association with external hydrocephalus
Author / Creator:Okunola, Peter ; Ofovwe, Gabriel ; Abiodun, Moses ; Isah, Abiodun ; Ikubor, Joyce
Publisher:England: BMJ Publishing Group LTD
Journal title:BMJ case reports, 2012, Vol.2012, p.bcr1220115432
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ArticlesPeer ReviewedFull Text
MEGALOCORNEA SHOULD BE INVESTIGATED IN CASES WITH HYPOTONIA AND MENTAL RETARDATION: NEUHAUSER SYNDROME--AN EASILY MISSED DIAGNOSIS
Author / Creator:Atik, T ; Atik, S Sahin ; Çoğulu, O ; Özkinay, F
Publisher:Switzerland
Journal title:Genetic counseling, 2015, Vol.26 (4), p.443
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CHD8 haploinsufficiency results in autistic-like phenotypes in mice

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Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy

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A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy

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Somatic Development Disorders in Children and Adolescents Affected by Syndromes and Diseases Associated with Neurodysfunction and Hydrocephalus Treated/Untreated Surgically

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Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly

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Prenatal diagnosis and delivery of megalencephaly–capillary malformation syndrome

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Reciprocal Relationship between Head Size, an Autism Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8L

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Head Circumferences in Twins With and Without Autism Spectrum Disorders

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Volumetric analysis of cerebrospinal fluid and brain parenchyma in a patient with hydranencephaly and macrocephaly – case report

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Olfactory nerve hypertrophy: a clue to the presence of ipsilateral megalencephaly

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Focal megalencephaly: intraoperative ultrasound imaging in epilepsy surgery

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Hemimegalencephaly: 2D, 3D Ultrasound and MRI Correlation

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Risk of sensorineural hearing loss in infants with abnormal head size

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Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spaces—extended spectrum of the condition

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Phakomatosis pigmentovascularis type IIB in association with external hydrocephalus

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MEGALOCORNEA SHOULD BE INVESTIGATED IN CASES WITH HYPOTONIA AND MENTAL RETARDATION: NEUHAUSER SYNDROME--AN EASILY MISSED DIAGNOSIS

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