Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2012 | 1 |
2020 | 1 |
2021 | 1 |
2023 | 1 |
2024 | 1 |
Search Results
4 results
Results by year
Filters applied: . Clear all
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.
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 …
Item in Clipboard
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 …
Item in Clipboard
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 …
Item in Clipboard
Cite
Cite