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Quoted phrase not found in phrase index: "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2"
Page 1
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
Rivière JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL; Finding of Rare Disease Genes (FORGE) Canada Consortium; Majewski J, Bulman DE, O'Driscoll M, Shendure J, Graham JM Jr, Boycott KM, Dobyns WB. Rivière JB, et al. Nat Genet. 2012 Jun 24;44(8):934-40. doi: 10.1038/ng.2331. Nat Genet. 2012. PMID: 22729224 Free PMC article.
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndromes are sporadic overgrowth disorders associated with markedly enlarged brain size and other recognizable features. We performe …
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) …
Prenatal Ultrasound Diagnosis of Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome with Persistent Hyperplastic Primary Vitreous: A Case Report.
Su XR, Ma B, Zhang C, Li TG, Han BL, Wu WR, Nie F. Su XR, et al. Fetal Diagn Ther. 2024;51(2):154-158. doi: 10.1159/000535509. Epub 2023 Nov 26. Fetal Diagn Ther. 2024. PMID: 38008077
INTRODUCTION: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome is a rare autosomal dominant disorder characterized by megalencephaly (i.e., overgrowth of the brain), polymicrogyria, focal hypoplasia of the cerebral cortex, …
INTRODUCTION: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome is a rare autosomal …
PIK3R2/Pik3r2 Activating Mutations Result in Brain Overgrowth and EEG Changes.
Shi X, Lim Y, Myers AK, Stallings BL, Mccoy A, Zeiger J, Scheck J, Cho G, Marsh ED, Mirzaa GM, Tao T, Golden JA. Shi X, et al. Ann Neurol. 2020 Dec;88(6):1077-1094. doi: 10.1002/ana.25890. Epub 2020 Sep 28. Ann Neurol. 2020. PMID: 32856318 Free PMC article.
OBJECTIVE: Mutations in phosphatidylinositol-4,5-bisphosphate 3-kinase (PI3K) complex have been associated with a broad spectrum of brain and organ overgrowth syndromes. For example, mutations in phosphatidylinositol-3-kinase regulatory subunit 2 (PIK3R2) have been …
OBJECTIVE: Mutations in phosphatidylinositol-4,5-bisphosphate 3-kinase (PI3K) complex have been associated with a broad spectrum of brain an …
The Fetus with Ganglionic Eminence Abnormality: Head Size and Extracranial Sonographic Findings Predict Genetic Diagnoses and Postnatal Outcomes.
Goergen SK, Alibrahim E, Christie J, Dobrotwir A, Fahey M, Fender L, Frawley K, Manikkam SA, Pinner JR, Sinnott S, Romaniello R, Sandaradura SA, Taylor J, Vasudevan A, Righini A. Goergen SK, et al. AJNR Am J Neuroradiol. 2021 Aug;42(8):1528-1534. doi: 10.3174/ajnr.A7131. Epub 2021 May 6. AJNR Am J Neuroradiol. 2021. PMID: 33958329 Free PMC article.
MATERIALS AND METHODS: Between January 2010 and June 2020, seven hospitals in 2 countries performing fetal MR imaging examinations identified fetal MR imaging studies demonstrating ganglionic eminence enlargement, cavitation, or both. ...RESULTS: Twenty-two fetuses with ga …
MATERIALS AND METHODS: Between January 2010 and June 2020, seven hospitals in 2 countries performing fetal MR imaging examinations id …