X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (1107) 1107
Publication (126) 126
Book Chapter (33) 33
Book Review (14) 14
Book / eBook (6) 6
Conference Proceeding (3) 3
Newsletter (3) 3
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (837) 837
index medicus (554) 554
female (553) 553
male (525) 525
magnetic resonance imaging (344) 344
cerebellum - abnormalities (302) 302
child (283) 283
clinical neurology (276) 276
neurosciences (274) 274
cerebellum (263) 263
genetics & heredity (255) 255
child, preschool (224) 224
animals (207) 207
pediatrics (206) 206
infant (194) 194
adult (193) 193
cerebellum - pathology (189) 189
cerebellar hypoplasia (186) 186
brain (180) 180
mutation (179) 179
adolescent (160) 160
ataxia (148) 148
neurology (141) 141
syndrome (139) 139
infant, newborn (134) 134
cerebellar vermis (125) 125
phenotype (124) 124
pregnancy (122) 122
brain - pathology (121) 121
children (121) 121
joubert syndrome (121) 121
diagnosis (114) 114
mutations (112) 112
hypoplasia (109) 109
pedigree (109) 109
cerebellar diseases - genetics (106) 106
genetic aspects (106) 106
mice (103) 103
cerebellar diseases - pathology (100) 100
research (100) 100
article (90) 90
neuroimaging (89) 89
atrophy (85) 85
radiology, nuclear medicine & medical imaging (85) 85
retina - abnormalities (81) 81
cerebellar diseases - diagnosis (80) 80
genetics (80) 80
gene (77) 77
abnormalities, multiple (75) 75
abnormalities (73) 73
autism (73) 73
cerebellar ataxia (72) 72
dandy-walker malformation (68) 68
brain - abnormalities (67) 67
cerebellum - diagnostic imaging (67) 67
disorders (67) 67
cerebellar ataxia - genetics (66) 66
young adult (66) 66
mri (65) 65
genes (62) 62
joubert-syndrome (62) 62
diagnosis, differential (60) 60
magnetic resonance imaging - methods (60) 60
malformations (60) 60
cerebellar diseases - complications (59) 59
abnormalities, multiple - genetics (58) 58
medicine & public health (57) 57
intellectual disability - genetics (56) 56
prenatal diagnosis (56) 56
middle aged (55) 55
cerebellar development (54) 54
ultrasound (54) 54
biomedicine (53) 53
kidney diseases, cystic - genetics (53) 53
nervous system (53) 53
obstetrics & gynecology (51) 51
vermis (51) 51
analysis (50) 50
cerebellar atrophy (50) 50
cerebellum - physiopathology (50) 50
genetic disorders (50) 50
eye abnormalities - genetics (49) 49
mental-retardation (49) 49
retrospective studies (49) 49
disease (48) 48
medicine (48) 48
kidney diseases, cystic - diagnosis (47) 47
developmental disabilities - genetics (46) 46
proteins (46) 46
tomography, x-ray computed (46) 46
classification (45) 45
gene mutations (45) 45
molar tooth sign (45) 45
eye abnormalities - diagnosis (44) 44
risk factors (44) 44
health aspects (43) 43
physiological aspects (43) 43
pontocerebellar hypoplasia (43) 43
psychiatry (43) 43
gestational age (41) 41
more...
Library Location Library Location
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (1108) 1108
French (6) 6
Spanish (6) 6
German (2) 2
Italian (2) 2
Japanese (1) 1
Korean (1) 1
Russian (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2019, Volume 179, Issue 6, pp. 1053 - 1057
We report two siblings with microcephaly, early infantile onset seizures, and cerebellar vermis hypoplasia, in whom whole exome sequencing revealed a novel... 
microcephaly | cerebellar vermis hypoplasia | HHAT | Nivelon–Nivelon–Mabille syndrome | missense variant | GENE | SONIC HEDGEHOG | MUTATION | GENETICS & HEREDITY | Nivelon-Nivelon-Mabille syndrome | Enzymes | Genomics | Seizures (Medicine) | Hypoplasia | Cerebellum | Microencephaly | Microcephaly | Hedgehog protein | Seizures
Journal Article
Glia, ISSN 0894-1491, 09/2018, Volume 66, Issue 9, pp. 1929 - 1946
Sox2 is a transcription factor active in the nervous system, within different cell types, ranging from radial glia neural stem cells to a few specific types of... 
Sox2 | ataxia | Bergmann glia | transcription factors | mouse genetic models | cerebellum | EXOCYTOTIC RELEASE | GLUTAMATE RELEASE | TRANSPORTERS | MID/HINDBRAIN ORGANIZER | SPINAL-CORD | NEURODEGENERATION | AMYOTROPHIC-LATERAL-SCLEROSIS | NEUROSCIENCES | NEURAL STEM-CELLS | EXPRESSION | BRAIN | Animals, Newborn | Cerebellar Vermis - growth & development | Cerebellar Vermis - metabolism | Synaptic Transmission - physiology | Neuroglia - pathology | Homeodomain Proteins - metabolism | Cells, Cultured | Gene Expression Regulation - physiology | Otx Transcription Factors - metabolism | Mice, Transgenic | Neural Stem Cells - pathology | SOXB1 Transcription Factors - metabolism | Animals | SOXB1 Transcription Factors - genetics | Neuroglia - metabolism | Glutamic Acid - metabolism | Mutation | Ataxia - metabolism | Cerebellar Vermis - pathology | Neural Stem Cells - metabolism | Ataxia - pathology | Animal genetics | Neurosciences | Neurons | Analysis | Stem cells | Genetic aspects | Genetic transcription | Cerebellum | Regulators | Deregulation | Transcription factors | Central nervous system | Radial glial cells | Stem cell transplantation | Nervous system | Motor task performance | Neuronal-glial interactions | Defects | Embryogenesis | Clonal deletion | Purkinje cells | Deletion | Ataxia | Otx2 protein | Transgenes | Hypoplasia | Abnormalities | Ablation | Embryos | Mutants | Embryonic growth stage | Neural stem cells | Hippocampus
Journal Article
eLife, ISSN 2050-084X, 12/2013, Volume 2, Issue 2, p. e01305
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 03/2016, Volume 61, Issue 3, pp. 235 - 239
CHARGE syndrome (OMIM 214800) is a rare autosomal-dominant congenital malformation syndrome that results from haploinsufficiency of the chromodomain helicase... 
PHENOTYPE | CHD7 GENE | MUTATIONS | SPECTRUM | ASSOCIATION | GENETICS & HEREDITY | Genetic Predisposition to Disease | Humans | Child, Preschool | Infant | Male | Young Adult | CHARGE Syndrome - pathology | Adolescent | Female | CHARGE Syndrome - genetics | Cerebellar Vermis - pathology | Child | Infant, Newborn | Republic of Korea
Journal Article
Molecular Cytogenetics, ISSN 1755-8166, 12/2016, Volume 9, Issue 1, p. 89
Background: Rearrangements involving the short arm of chromosome 18 have been extensively described. Here we report a microduplication of 320.5-431.5 Kb at... 
Hypoplasia of the cerebellar vermis | Deafness | 18p11.31-p11.23 microduplication | Chorioretinal coloboma | Growth hormone deficiency | MIDLINE DEFECTS | LAMININ | MEMBRANE FORMATION | MODEL | DYSTROPHY | GENETICS & HEREDITY | DISABILITY | FISH | MUTATIONS | Physiological aspects | Development and progression | Genetic disorders | Research | Gene mutations | Risk factors
Journal Article
Neurocase, ISSN 1355-4794, 03/2010, Volume 16, Issue 2, pp. 119 - 124
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2006, Volume 50, Issue 1, pp. 48 - 53
Abstract Here we describe the clinical, histopathological and molecular studies of a female proband that died at 2 months of age in the context of a syndromic... 
Medical Education | Polymicrogyria | Cerebellar vermis hypoplasia | Cleft palate | cerebellar vermis hypoplasia | polymicrogyria | cleft palate | MUTATIONS | GENE | GENETICS & HEREDITY | Facial Bones - abnormalities | Cleft Palate - pathology | Humans | Female | Infant | Cerebellum - abnormalities | Infant, Newborn | Syndrome
Journal Article
Brain, ISSN 0006-8950, 2010, Volume 133, Issue 11, pp. 3210 - 3220
Journal Article