| 1 |
Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings.
61
|
Szalai R...Hadzsiev K
|
32446860 |
2020 |
| 2 |
Septopreoptic holoprosencephaly in intracranial abnormalities: an under-diagnosed midline finding.
61
|
Pascoe HM...Kumbla S
|
32103291 |
2020 |
| 3 |
Cerebellar Astrocyte Transduction as Gene Therapy for Megalencephalic Leukoencephalopathy.
61
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Sanchez A...Bosch A
|
32372403 |
2020 |
| 4 |
Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation.
61
|
De Graer C...Donner C
|
31568861 |
2020 |
| 5 |
Multimodal Analysis of STRADA Function in Brain Development.
61
|
Dang LT...Crino PB
|
32457579 |
2020 |
| 6 |
Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA.
61
|
Davis S...Mirzaa G
|
31729162 |
2020 |
| 7 |
One of the First Cases with PIK3CA-related Overgrowth Spectrum (PROS) in Saudi Arabia: A Case Report and Literature Review.
61
|
Alsaedi SA...Shawli AM
|
31929958 |
2020 |
| 8 |
EML1-associated brain overgrowth syndrome with ribbon-like heterotopia.
61
|
Oegema R...Lequin MH
|
31710781 |
2019 |
| 9 |
Variants in nuclear factor I genes influence growth and development.
61
|
Zenker M...Hennekam RC
|
31730271 |
2019 |
| 10 |
Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.
61
|
Dobyns WB...Mirzaa GM
|
31441589 |
2019 |
| 11 |
PUF60-SCRIB fusion transcript in a patient with 8q24.3 microdeletion and atypical Verheij syndrome.
61
|
Abdin D...Di Donato N
|
30472487 |
2019 |
| 12 |
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures.
61
|
Horn S...Abou Jamra R
|
31504246 |
2019 |
| 13 |
Comparison of zebrafish and mice knockouts for Megalencephalic Leukoencephalopathy proteins indicates that GlialCAM/MLC1 forms a functional unit.
61
|
Perez-Rius C...Estevez R
|
31752924 |
2019 |
| 14 |
GATORopathies: The role of amino acid regulatory gene mutations in epilepsy and cortical malformations.
61
|
Iffland PH...Crino PB
|
31625153 |
2019 |
| 15 |
Autosomal recessive Alport syndrome caused by a novel COL4A4 splice site mutation: a case report.
61
|
Senjug P...Galesic Ljubanovic D
|
31686460 |
2019 |
| 16 |
Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.
61
|
Polla DL...Jarvela I
|
30914828 |
2019 |
| 17 |
Understanding Hippocampal Development in Young Children With Autism Spectrum Disorder.
61
|
Reinhardt VP...Solomon M
|
31449875 |
2019 |
| 18 |
Differential Altered Auditory Event-Related Potential Responses in Young Boys on the Autism Spectrum With and Without Disproportionate Megalencephaly.
61
|
De Meo-Monteil R...Saron CD
|
31157516 |
2019 |
| 19 |
[Syndromes with vascular skin anomalies].
61
|
Happle R
|
31111168 |
2019 |
| 20 |
RNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Goutieres syndrome: a case report with a novel pathogenic variant.
61
|
Kameli R...Tavasoli AR
|
31349848 |
2019 |
| 21 |
Severe presentation and complex brain malformations in an individual carrying a CCND2 variant.
61
|
Cappuccio G...Brunetti-Pierri N
|
31056854 |
2019 |
| 22 |
MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome.
61
|
Kato K...Saitoh S
|
30573562 |
2019 |
| 23 |
A Longitudinal Study of Local Gyrification Index in Young Boys With Autism Spectrum Disorder.
61
|
Libero LE...Nordahl CW
|
29850803 |
2019 |
| 24 |
Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature.
61
|
Handoko M...Chao HT
|
30569621 |
2019 |
| 25 |
Heterozygosity for Nuclear Factor One X in mice models features of Malan syndrome.
61
|
Oishi S...Piper M
|
30503862 |
2019 |
| 26 |
[Malformations of cortical development and epilepsy].
61
|
Buompadre MC
|
31603842 |
2019 |
| 27 |
Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathway.
61
|
Stutterd C...Leventer R
|
29883676 |
2018 |
| 28 |
Novel Homozygous Deletion in STRADA Gene Associated With Polyhydramnios, Megalencephaly, and Epilepsy in 2 Siblings: Implications for Diagnosis and Treatment.
61
|
Nelson K...Walsh L
|
30311510 |
2018 |
| 29 |
From microcephaly to megalencephaly: determinants of brain size.
61
|
Pirozzi F...Mirzaa G
|
30936767 |
2018 |
| 30 |
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.
61
|
Tripathy R...Keays DA
|
30449657 |
2018 |
| 31 |
Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability.
61
|
Zombor M...Sztriha L
|
30181650 |
2018 |
| 32 |
Clinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > A mutation in PIK3CA gene.
61
|
Maguolo A...Cavarzere P
|
30231930 |
2018 |
| 33 |
Dysplastic megalencephaly phenotype presenting with prenatal high-output cardiac failure.
61
|
Del Campos Braojos F...Guimaraes CVA
|
29594439 |
2018 |
| 34 |
Macrocephaly: Solving the Diagnostic Dilemma.
61
|
Tan AP...Alexia E
|
30086108 |
2018 |
| 35 |
PARD3 dysfunction in conjunction with dynamic HIPPO signaling drives cortical enlargement with massive heterotopia.
61
|
Liu WA...Shi SH
|
29899142 |
2018 |
| 36 |
A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus.
61
|
Maini I...Garavelli L
|
29642246 |
2018 |
| 37 |
In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).
61
|
Ranieri C...Resta N
|
29549527 |
2018 |
| 38 |
Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief report.
61
|
Denorme P...Brems H
|
29493003 |
2018 |
| 39 |
Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.
61
|
Alby C...Thomas S
|
29681083 |
2018 |
| 40 |
Increased cerebral blood flow on arterial spin labeling magnetic resonance imaging can localize to seizure focus in newborns: A report of 3 cases.
61
|
Mabray P...Tsuchida TN
|
29600511 |
2018 |
| 41 |
Dendrite growth and the effect of ectopic Rheb expression on cortical neurons.
61
|
Sokolov AM...Feliciano DM
|
29447953 |
2018 |
| 42 |
mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.
61
|
Gordo G...Lapunzina P
|
28892148 |
2018 |
| 43 |
Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.
61
|
McDermott JH...Douzgou S
|
28941273 |
2018 |
| 44 |
Dysplasia and overgrowth: magnetic resonance imaging of pediatric brain abnormalities secondary to alterations in the mechanistic target of rapamycin pathway.
61
|
Shrot S...Soares BP
|
29279945 |
2018 |
| 45 |
Novel RNASET2 Pathogenic Variants in an East Asian Child with Delayed Psychomotor Development.
61
|
Sun Y...Li G
|
29336640 |
2018 |
| 46 |
Repositioning of Somatic Golgi Apparatus Is Essential for the Dendritic Establishment of Adult-Born Hippocampal Neurons.
61
|
Rao S...Shelly M
|
29217690 |
2018 |
| 47 |
Contribution of Altered Endocannabinoid System to Overactive mTORC1 Signaling in Focal Cortical Dysplasia.
61
|
Garcia-Rincon D...Galve-Roperh I
|
30687088 |
2018 |
| 48 |
Commentary on "Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea".
61
|
Park SM...Ko HC
|
29441111 |
2018 |
| 49 |
Olfactory nerve hypertrophy: a clue to the presence of ipsilateral megalencephaly.
61
|
Iyer RS...Kumar P
|
29066644 |
2017 |
| 50 |
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
61
|
Alcantara D...Mirzaa GM
|
28969385 |
2017 |
Rare neurological diseases 
