1 |
Sleep Problems in Children With Neurocutaneous Syndromes: A Cross-Sectional Study.
62
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Saini L...Sharawat IK
|
35918819 |
2022 |
2 |
Brain Abnormalities in PIK3CA-Related Overgrowth Spectrum: Physician, Patient, and Caregiver Experiences.
62
|
Dexheimer J...Mirzaa GM
|
35857185 |
2022 |
3 |
[Smith-Kingsmore syndrome caused by MTOR gene variation: 2 cases and literature review].
62
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Lei HH...Yang Y
|
36038305 |
2022 |
4 |
LysM-positive neurons drive Tuberous Sclerosis Complex (TSC)-associated brain lesions.
62
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Zhang J...Zhang Y
|
36115548 |
2022 |
5 |
Dyke-davidoff-masson syndrome: A case report of an adolescent boy at a tertiary hospital in Adamawa, North-Eastern Nigeria.
62
|
Usman AB...Hirayama K
|
36149226 |
2022 |
6 |
Cochlear Implantation in a Profoundly Deaf Child with Cystic Leukoencephalopathy without Megalencephaly.
62
|
Gopalakrishnan A...Alexander A
|
35979751 |
2022 |
7 |
Hemimegalencephaly: Evolution From an Atypical Focal Early Appearance on Fetal MRI to More Conventional MR Findings.
62
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Kakish D...Krishnan A
|
36120272 |
2022 |
8 |
Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome?
62
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Beltrami B...Bedeschi MF
|
36017115 |
2022 |
9 |
Qualitative research with patients and caregivers of patients with PIK3CA related overgrowth spectrum: content validity of clinical outcome assessments.
62
|
Raymond K...D'Alessio D
|
35829859 |
2022 |
10 |
Clinical Conundrum: Polyhydramnios as a Marker for a Fetal Genetic Syndrome in the Canadian Old Order Mennonite Population.
62
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Hutson J...Rupar CA
|
35131504 |
2022 |
11 |
Thyroid hypogenesis is associated with a novel AKT3 germline variant that causes megalencephaly and cortical malformation.
62
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Mori J...Chiyonobu T
|
35665751 |
2022 |
12 |
Equivocal evidence for a link between megalencephaly-related genes and primate brain size evolution.
62
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DeCasien AR...Higham JP
|
35764790 |
2022 |
13 |
Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS).
62
|
Gokpinar Ili E...Ilgin Ruhi H
|
35238469 |
2022 |
14 |
Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study.
62
|
Diociaiuti A...El Hachem M
|
35740480 |
2022 |
15 |
Mapping the PIK3CA-related overgrowth spectrum (PROS) patient and caregiver journey using a patient-centered approach.
62
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Rodriguez-Laguna L...Johnson C
|
35526022 |
2022 |
16 |
PIK3CA-related overgrowth with an uncommon phenotype: case report.
62
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Rotunno R...El Hachem M
|
35551640 |
2022 |
17 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome (MCAP): A Rare Dynamic Genetic Disorder.
62
|
Sarma K...Gaikwad SB
|
35733479 |
2022 |
18 |
Fetal Brain Development: Regulating Processes and Related Malformations.
62
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Leibovitz Z...Haddad L
|
35743840 |
2022 |
19 |
Prenatal MR Imaging Phenotype of Fetuses with Tuberous Sclerosis: An Institutional Case Series and Literature Review.
62
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Goergen SK...Fahey MC
|
35332020 |
2022 |
20 |
TAU ablation in excitatory neurons and postnatal TAU knockdown reduce epilepsy, SUDEP, and autism behaviors in a Dravet syndrome model.
62
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Shao E...Mucke L
|
35476595 |
2022 |
21 |
The utility of cerebrospinal fluid-derived cell-free DNA in molecular diagnostics for the PIK3CA-related megalencephaly-capillary malformation (MCAP) syndrome: a case report.
62
|
Chen WL...Mirzaa GM
|
35483878 |
2022 |
22 |
Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K-AKT-mTOR signaling pathway.
62
|
Bourgon N...Collaborators
|
34170046 |
2022 |
23 |
Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
62
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Pirozzi F...Mirzaa GM
|
35355055 |
2022 |
24 |
Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India.
62
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Gowda VK...Benakappa N
|
35186388 |
2022 |
25 |
Endosomal trafficking defects alter neural progenitor proliferation and cause microcephaly.
62
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Carpentieri JA...Baffet AD
|
35013230 |
2022 |
26 |
A rare case of hemimegalencephaly diagnosed prenatally.
62
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Wojtowicz A...Huras H
|
35894497 |
2022 |
27 |
Brain overgrowth associated with megalencephaly-capillary malformation syndrome causing progressive Chiari and syringomyelia.
62
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Deleu T...Calenbergh FV
|
35673641 |
2022 |
28 |
Treating refractory corneal hydrops in a male patient with vernal keratoconjunctivitis and mental retardation: a case report.
62
|
Shih EJ...Chen JL
|
35073856 |
2022 |
29 |
Autism spectrum disorder in a child with megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP).
62
|
St John LJ...Rao N
|
34969807 |
2021 |
30 |
The blended phenotype of a germline RIT1 and a mosaic PIK3CA variant.
62
|
Berland S...Douzgou S
|
34887308 |
2021 |
31 |
Longitudinal Evaluation of Cerebral Growth Across Childhood in Boys and Girls With Autism Spectrum Disorder.
62
|
Lee JK...Nordahl CW
|
33388135 |
2021 |
32 |
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.
62
|
Pirozzi F...Mirzaa GM
|
34087052 |
2021 |
33 |
The Names of Things: The 2018 Bernard Sachs Lecture.
62
|
Dobyns WB
|
34330614 |
2021 |
34 |
Siblings with megalencephalic leukoencephalopathy with subcortical cysts van der Knaap disease.
62
|
M P S...Prasad SG
|
35136617 |
2021 |
35 |
Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant.
62
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Poole RL...Tatton-Brown K
|
34032352 |
2021 |
36 |
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features.
62
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Zaki MS...Maroofian R
|
34163010 |
2021 |
37 |
Megalencephaly-capillary malformation syndrome and associated hydrocephalus: treatment options and revision of the literature.
62
|
Alamar M...Hinojosa J
|
34047857 |
2021 |
38 |
The Fetus with Ganglionic Eminence Abnormality: Head Size and Extracranial Sonographic Findings Predict Genetic Diagnoses and Postnatal Outcomes.
62
|
Goergen SK...Righini A
|
33958329 |
2021 |
39 |
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
62
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Carmignac V...Vabres P
|
33833411 |
2021 |
40 |
STRADA-mutant human cortical organoids model megalencephaly and exhibit delayed neuronal differentiation.
62
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Dang LT...Parent JM
|
33619909 |
2021 |
41 |
Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndrome.
62
|
Aerden M...Devriendt K
|
33605605 |
2021 |
42 |
Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity.
62
|
Besterman AD...Martinez-Agosto JA
|
34197453 |
2021 |
43 |
Megalencephaly Polymicrogyria Polydactyly Hydrocephalus (MPPH): A Case Report and Review of Literature.
62
|
Ortiz JF...Patel A
|
34354878 |
2021 |
44 |
[The etiology of 340 infants with early-onset epilepsy].
62
|
Song TY...Tian XJ
|
33902223 |
2021 |
45 |
Medulloblastoma in the setting of megalencephaly polymicrogyria polydactyly hydrocephalus.
62
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Hadzipasic M...Fehnel KP
|
33634562 |
2021 |
46 |
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.
62
|
Garde A...Faivre L
|
33415748 |
2021 |
47 |
CRADD and USP44 mutations in intellectual disability, mild lissencephaly, brain atrophy, developmental delay, strabismus, behavioural problems and skeletal anomalies.
62
|
Koprulu M...Tolun A
|
33647455 |
2021 |
48 |
Cerebellar dysplasia related to PIK3CA mutation: a three-case series.
62
|
Di Stasi M...Parazzini C
|
32901329 |
2021 |
49 |
Fetal Megalencephaly with Cortical Dysplasia at 18 Gestational Weeks Related to Paternal UPD Mosaicism with PTEN Mutation.
62
|
Pooh RK...Chiyo H
|
33801456 |
2021 |
50 |
Novel neonatal presentation of megalencephaly-polymicrogyria-pigmentary mosaicism syndrome (MPPM) related to MTOR mutation: Report of a case.
62
|
Taylor DL...Morley KW
|
33325571 |
2021 |