X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
phelan-mcdermid syndrome (125) 125
index medicus (78) 78
autism (72) 72
humans (60) 60
shank3 (54) 54
neurosciences (47) 47
chromosome deletion (45) 45
male (43) 43
female (42) 42
child (31) 31
research (30) 30
autism spectrum disorder (29) 29
chromosomes, human, pair 22 - genetics (26) 26
genetics & heredity (26) 26
mutation (26) 26
nerve tissue proteins - genetics (26) 26
phenotype (26) 26
chromosome disorders - genetics (25) 25
genetic aspects (25) 25
22q13.3 deletion syndrome (24) 24
animals (24) 24
clinical neurology (24) 24
22q13 deletion syndrome (23) 23
children (23) 23
mutations (23) 23
adolescent (22) 22
behavior (21) 21
article (20) 20
child, preschool (20) 20
proteins (20) 20
gene (19) 19
autism spectrum disorders (18) 18
mice (18) 18
analysis (16) 16
pediatrics (16) 16
phelan‐mcdermid syndrome (16) 16
schizophrenia (16) 16
disease models, animal (15) 15
mental disorders (15) 15
chromosomes, human, pair 22 (14) 14
genetics (14) 14
health aspects (14) 14
neurodevelopmental disorders (14) 14
phelan–mcdermid syndrome (14) 14
psychiatry (14) 14
adult (13) 13
infant (13) 13
young adult (13) 13
22q13 (12) 12
care and treatment (12) 12
chromosome disorders - diagnosis (12) 12
chromosome disorders - physiopathology (12) 12
deletion syndrome (12) 12
diagnosis (12) 12
intellectual disability (12) 12
postsynaptic density (12) 12
rodents (12) 12
scaffolding protein shank3 (12) 12
bipolar disorder (11) 11
gene deletion (11) 11
gene expression (11) 11
genes (11) 11
nerve tissue proteins - metabolism (11) 11
neuroscience (11) 11
behavioral sciences (10) 10
mental retardation (10) 10
neurosciences. biological psychiatry. neuropsychiatry (10) 10
phenotypes (10) 10
postsynaptic density proteins (10) 10
risk factors (10) 10
autism spectrum disorder - genetics (9) 9
brain (9) 9
chromosome disorders - psychology (9) 9
epilepsy (9) 9
family (9) 9
genetic disorders (9) 9
genotype & phenotype (9) 9
intellectual disabilities (9) 9
medical research (9) 9
medicine (9) 9
medicine, experimental (9) 9
molecular characterization (9) 9
mouse model (9) 9
neurology (9) 9
22q13 deletion (8) 8
adolescents (8) 8
autistic disorder - genetics (8) 8
comparative genomic hybridization (8) 8
complications and side effects (8) 8
disorders (8) 8
fragile-x-syndrome (8) 8
genomics (8) 8
haploinsufficiency (8) 8
intellectual disability - genetics (8) 8
pervasive developmental disorders (8) 8
phelan mcdermid syndrome (8) 8
psychology, developmental (8) 8
seizures (8) 8
social behavior (8) 8
spectrum disorders (8) 8
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
Journal Article
Journal Article
Journal Article
Pediatric Neurology, ISSN 0887-8994, 2016, Volume 65, pp. 1 - 13
Abstract Neurogenetic developmental conditions (NDCs) represent a heterogeneous group of rare inherited disorders with neurological manifestation during... 
Pediatrics | Neurology | neurogenetic disorders | genetic diseases | developmental disorders | therapy | fragile X syndrome | RETT-SYNDROME | TREATABLE INBORN-ERRORS | CLINICAL NEUROLOGY | INTELLECTUAL DISABILITY | TUBEROUS SCLEROSIS COMPLEX | PHELAN-MCDERMID SYNDROME | MOUSE MODEL | DOWN-SYNDROME | FRAGILE-X-SYNDROME | PEDIATRICS | PRADER-WILLI-SYNDROME | GROWTH-FACTOR-I | Fragile X Syndrome - therapy | Humans | Autism Spectrum Disorder - therapy | Developmental Disabilities - genetics | Neurodevelopmental Disorders - genetics | Intellectual Disability - genetics | Tuberous Sclerosis - diagnosis | Down Syndrome - diagnosis | Genetic Testing - trends | Child | Developmental Disabilities - diagnosis | Autism Spectrum Disorder - diagnosis | Fragile X Syndrome - genetics | Autism Spectrum Disorder - genetics | Neurodevelopmental Disorders - therapy | Rett Syndrome - diagnosis | Treatment Outcome | Down Syndrome - therapy | Genetic Therapy - trends | Forecasting | Developmental Disabilities - therapy | Intellectual Disability - therapy | Tuberous Sclerosis - genetics | Tuberous Sclerosis - therapy | Enzyme Replacement Therapy - trends | Intellectual Disability - diagnosis | Down Syndrome - genetics | Rett Syndrome - genetics | Fragile X Syndrome - diagnosis | Neurodevelopmental Disorders - diagnosis | Rett Syndrome - therapy
Journal Article
Nature, ISSN 0028-0836, 2013, Volume 503, Issue 7475, pp. 267 - 271
Journal Article
Journal of Intellectual & Developmental Disability, ISSN 1366-8250, 01/2020, Volume 45, Issue 1, pp. 54 - 58
Background: Phelan-McDermid Syndrome (PHMDS)/22q13.3 deletion syndrome is a rare genetic disorder linked to Autism Spectrum Disorder (ASD) and Intellectual... 
psychiatric disorder | Autism | assessment | bipolar disorder | Phelan-Mcdermid Syndrome | 22q13.3 deletion syndrome | ADULTS | 22q13 | EDUCATION, SPECIAL | INTERVIEW | DISORDER | REHABILITATION | 3 deletion syndrome | PSYCHOPATHOLOGY | ONSET | Disability | Mental disorders | Intellectual disabilities | Comorbidity | Assessment | Learning disabilities
Journal Article
Neurourology and Urodynamics, ISSN 0733-2467, 01/2020, Volume 39, Issue 1, pp. 310 - 318
Aims Phelan‐McDermid syndrome (PMD) is a congenital syndrome caused by a deletion on chromosome 22q13.3. About 600 cases have been identified worldwide. PMD is... 
psychopathology | fecal incontinence | Phelan‐McDermid syndrome | urinary incontinence | enuresis | Phelan-McDermid syndrome | UROLOGY & NEPHROLOGY | DELETION SYNDROME | CHILDREN | Urinary incontinence | Neonates | Fecal incontinence | Enuresis | Hyperactivity | Chromosome 22 | Chromosome deletion | Anxiety | Children | Stereotyped behavior | Constipation | Age
Journal Article
JAMA Psychiatry, ISSN 2168-622X, 04/2015, Volume 72, Issue 4, pp. 377 - 385
Journal Article