X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (603) 603
Publication (52) 52
Book Chapter (15) 15
Newsletter (4) 4
Book Review (3) 3
Web Resource (2) 2
Conference Proceeding (1) 1
Dissertation (1) 1
Magazine Article (1) 1
Paper (1) 1
Reference (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
macrocephaly (552) 552
humans (359) 359
male (247) 247
female (236) 236
index medicus (177) 177
genetics & heredity (163) 163
child, preschool (145) 145
child (130) 130
infant (125) 125
pediatrics (120) 120
clinical neurology (90) 90
autism (88) 88
syndrome (85) 85
adolescent (82) 82
children (75) 75
magnetic resonance imaging (73) 73
hydrocephalus (69) 69
adult (68) 68
diagnosis (64) 64
infant, newborn (64) 64
phenotype (64) 64
genetic aspects (63) 63
mutation (52) 52
neurosciences (51) 51
surgery (51) 51
research (48) 48
intellectual disability - genetics (46) 46
megalencephaly - genetics (46) 46
abnormalities, multiple - genetics (45) 45
head circumference (44) 44
megalencephaly (41) 41
mental retardation (41) 41
brain - pathology (40) 40
brain (39) 39
pedigree (39) 39
intellectual disability (34) 34
microcephaly (34) 34
head - abnormalities (33) 33
overgrowth (32) 32
skull - abnormalities (31) 31
gene mutations (29) 29
genetics (29) 29
risk factors (29) 29
gene (28) 28
health aspects (28) 28
infants (28) 28
mutations (28) 28
developmental delay (27) 27
megalencephaly - diagnosis (27) 27
cephalometry (26) 26
disease (26) 26
abnormalities (25) 25
abnormalities, multiple - pathology (25) 25
article (24) 24
brain - abnormalities (24) 24
genetic disorders (24) 24
pregnancy (24) 24
retrospective studies (24) 24
tomography, x-ray computed (24) 24
macrocephaly-capillary malformation (23) 23
neurology (23) 23
pten (23) 23
abnormalities, multiple - diagnosis (22) 22
animals (22) 22
autistic disorder - genetics (22) 22
care and treatment (22) 22
craniofacial abnormalities - genetics (22) 22
family (22) 22
growth (22) 22
leukoencephalopathy (22) 22
medicine & public health (21) 21
analysis (20) 20
epilepsy (20) 20
pervasive developmental disorders (20) 20
case report (19) 19
developmental disabilities - genetics (19) 19
external hydrocephalus (19) 19
genes (19) 19
seizures (19) 19
age (18) 18
autism spectrum disorders (18) 18
diagnosis, differential (18) 18
follow-up studies (18) 18
megalencephaly - pathology (18) 18
middle aged (18) 18
physiological aspects (18) 18
psychiatry (18) 18
young adult (18) 18
case studies (17) 17
cowden-syndrome (17) 17
hydrocephalus - surgery (17) 17
megalencephaly - complications (17) 17
pten phosphohydrolase - genetics (17) 17
neuroimaging (16) 16
prevalence (16) 16
autism spectrum disorder (15) 15
individuals (15) 15
leukodystrophy (15) 15
marmorata-telangiectatica-congenita (15) 15
medicine (15) 15
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (554) 554
Spanish (22) 22
German (18) 18
Turkish (9) 9
Italian (5) 5
French (4) 4
Portuguese (3) 3
Korean (2) 2
Polish (2) 2
Catalan (1) 1
Hungarian (1) 1
Japanese (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


02/2014
Background: Alexander disease (AD) is a sporadic leukodystrophy that predominantly affects infants and children and usually results in death within ten years... 
Alexander Disease | Megalencephaly | Leukoencephalopathy | Alexander's leukodystrophy | Macrocephaly
Web Resource
02/2010
Background: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disorder characterized by macrocephaly, and slowly... 
Megalencephaly | MLC1 gene | Leukoencephalopathy | Macrocephaly
Web Resource
Medicina (Argentina), ISSN 0025-7680, 09/2018, Volume 78, pp. 101 - 107
Journal Article
Human Mutation, ISSN 1059-7794, 03/2016, Volume 37, Issue 3, pp. 242 - 245
ABSTRACT Activating somatic PIK3CA mutations underlie a growing heterogeneous spectrum of segmental overgrowth disorders. We report the identification and... 
p110α | macrocephaly | PIK3CA | overgrowth
Journal Article
Paediatrics and Child Health, ISSN 1751-7222, 2015, Volume 25, Issue 5, pp. 239 - 242
Abstract Macrocephaly is usually a benign condition that does not require intervention. However, there are some underlying causes that clinicians need to be... 
Pediatrics | familial macrocephaly | megalencephaly | macrocephaly | hydrocephalus | Megalencephaly | Hydrocephalus | Familial macrocephaly | Macrocephaly
Journal Article
Paediatrics and Child Health, ISSN 1751-7222, 05/2019, Volume 29, Issue 5, pp. 235 - 239
Macrocephaly is usually a benign condition that does not require intervention. Presenting in infancy, it is commonly due to familial macrocephaly (FM).... 
familial macrocephaly | megalencephaly | macrocephaly | hydrocephalus | Medical personnel | Practice | Diagnosis | Pediatric research | Macrocephaly
Journal Article
Journal of Pediatric Neurology, ISSN 1304-2580, 06/2012, Volume 10, Issue 2, pp. 147 - 149
Abstract Leukemia is the most common malignancy in children. There were different atypical presentations of acute leukemia described in literature like cardiac... 
leukemia | Macrocephaly | Tomography | Leukemia | Fever
Journal Article
Pakistan Paediatric Journal, ISSN 0304-4904, 12/2017, Volume 41, Issue 4, pp. 218 - 228
Journal Article
Journal Article
Journal of Maternal-Fetal and Neonatal Medicine, ISSN 1476-7058, 2018, pp. 1 - 6
To examine the occurrence and outcomes of fetuses with wide subarachnoid space without ventriculomegaly in pregnant women with fetal macrocephaly as a sole... 
Fetal MRI | macrocephaly | neurodevelopmental delay | wide subarachnoid space | pregnancy
Journal Article
Journal of Taibah University Medical Sciences, ISSN 1658-3612, 09/2014, Volume 9, Issue 3, pp. 209 - 212
Objectives Dandy-Walker syndrome is a rare disorder characterised by complete or partial agenesis of the vermis, cystic dilatation of the fourth ventricle and... 
Ventriculomegaly | Macrocephaly | DandyeWalker syndrome
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2012, Volume 44, Issue 8, pp. 934 - 940
Journal Article
Pediatric Neurology, ISSN 0887-8994, 04/2019, Volume 93, pp. 61 - 62
Journal Article
Cell, ISSN 0092-8674, 07/2014, Volume 158, Issue 2, pp. 263 - 276
Journal Article
CLINICAL NEUROLOGY AND NEUROSURGERY, ISSN 0303-8467, 09/2019, Volume 184, p. 105400
We present a case of megalencephalic leukoencephalopathy with subcortical cysts without macrocephaly and who initially presented with severe psychiatric... 
SURGERY | Turner's syndrome | Epilepsy | Depression | Megalencephalic leukoencephalopathy with subcortical cysts | Macrocephaly | CLINICAL NEUROLOGY
Journal Article
No results were found for your search.

Cannot display more than 1000 results, please narrow the terms of your search.