X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
fraxa (127) 127
humans (108) 108
female (84) 84
fragile x syndrome - genetics (84) 84
male (80) 80
genetics & heredity (77) 77
fragile x syndrome (63) 63
mutation (46) 46
frax (41) 41
fragile x mental retardation protein (35) 35
alleles (34) 34
mental retardation (34) 34
cgg repeat (33) 33
fmr1 (30) 30
instability (30) 30
osteoporosis (29) 29
fragile x syndrome - diagnosis (28) 28
fragile-x-syndrome (28) 28
mental-retardation (28) 28
nerve tissue proteins - genetics (27) 27
premature ovarian failure (27) 27
rna-binding proteins (26) 26
child (25) 25
adult (24) 24
gene (24) 24
heterozygote (24) 24
pedigree (24) 24
x chromosome (24) 24
fraxe (23) 23
identification (20) 20
index medicus (20) 20
adolescent (19) 19
fragile x mental retardation protein - genetics (19) 19
population (19) 19
prevalence (19) 19
site (19) 19
genetic markers (18) 18
intellectual disability - genetics (18) 18
carriers (17) 17
dna (17) 17
fragile x (17) 17
trinucleotide repeats (17) 17
blotting, southern (16) 16
chromosome (16) 16
chromosome fragility (16) 16
methylation (16) 16
primary ovarian insufficiency - genetics (16) 16
biochemistry & molecular biology (15) 15
expression (15) 15
ostéoporose (15) 15
premutation (15) 15
diagnosis (14) 14
phenotype (14) 14
chromosomes (13) 13
dna probes (13) 13
fmr1 gene (13) 13
fragile x syndrome - epidemiology (13) 13
genetic linkage (13) 13
genetic testing (13) 13
women (13) 13
child, preschool (12) 12
polymerase chain reaction (12) 12
region (12) 12
males (11) 11
medicine, research & experimental (11) 11
pcr (11) 11
expansion (10) 10
females (10) 10
fracture (10) 10
fragile-x (10) 10
genetics (10) 10
locus (10) 10
middle aged (10) 10
mutation - genetics (10) 10
obstetrics & gynecology (10) 10
prenatal diagnosis (10) 10
chromosome fragile sites (9) 9
dna - genetics (9) 9
full mutation (9) 9
genetic aspects (9) 9
polymorphism, restriction fragment length (9) 9
pregnancy (9) 9
risk factors (9) 9
trinucleotide repeat expansion (9) 9
trinucleotide repeat expansion - genetics (9) 9
cgg-repeat (8) 8
fmr-1 (8) 8
fmr-1 gene (8) 8
fragile-x syndrome (8) 8
menopause (8) 8
polymerase chain reaction - methods (8) 8
repeat (8) 8
reproductive biology (8) 8
trinucleotide repeats - genetics (8) 8
amplification (7) 7
bone mineral density (7) 7
brazil (7) 7
chromosome mapping (7) 7
dna mutational analysis (7) 7
epidemiology (7) 7
more...
Library Location Library Location
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (152) 152
French (25) 25
Spanish (14) 14
Turkish (6) 6
Portuguese (3) 3
Chinese (2) 2
Czech (2) 2
German (2) 2
Japanese (1) 1
Korean (1) 1
Latvian (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


1991, Johns Hopkins series in contemporary medicine and public health., ISBN 9780801841699, xiv, 378
Book
Genetics in Medicine, ISSN 1098-3600, 12/2018, Volume 20, Issue 12, pp. 1627 - 1634
Purpose: Developmental delay phenotypes have been associated with FMR1 premutation (PM: 55-200 CGG repeats) and "gray zone" (GZ: 45-54 CGG repeats) alleles.... 
fragile X syndrome (FXS) | prevalence | fragile X mental retardation 1 gene (FMR1 gene) | Developmental delay (DD) | premutation | INSTABILITY | NEWBORN | EXPANDED ALLELES | IDENTIFICATION | GENETICS & HEREDITY | FRAGILE-X-SYNDROME | DISORDER | INTERMEDIATE | CGG-REPEAT | FRAXA | Pediatrics | Females | Medical screening | Males
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 12/2018, Volume 115, Issue 51, pp. 13003 - 13008
Journal Article
Human Reproduction, ISSN 0268-1161, 5/2010, Volume 25, Issue 5, pp. 1335 - 1338
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2001, Volume 3, Issue 5, pp. 359 - 371
The fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is one of the most common forms of inherited mental retardation. The cognitive,... 
Fragile X syndrome | Review | Epidemiology | Mental retardation | FMR1 | FRAXA | RAPID ANTIBODY-TEST | HAIR ROOT ANALYSIS | fragile X syndrome | LEARNING-DIFFICULTIES | RETARDED MALES | RNA-BINDING PROTEIN | mental retardation | epidemiology | FULL MUTATION | review | DNA DIAGNOSIS | GENETICS & HEREDITY | CGG-REPEAT | MENTAL-RETARDATION PROTEIN | PRENATAL-DIAGNOSIS
Journal Article
Parkinsonism and Related Disorders, ISSN 1353-8020, 2010, Volume 17, Issue 4, pp. 281 - 284
Abstract Background It is debatable whether the size of triplet repeats of the fragile X mental retardation genes FMR1 and FMR2 (found at the FRAXA and FRAXE... 
Neurology | Clinical manifestation | FRAXE | FRAXA | Parkinson’s disease | Risk factor
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 02/2006, Volume 14, Issue 2, pp. 253 - 255
Journal Article
Gene, ISSN 0378-1119, 10/2015, Volume 570, Issue 2, pp. 180 - 184
Journal Article
Genes, Brain and Behavior, ISSN 1601-1848, 04/2012, Volume 11, Issue 3, pp. 325 - 331
textabstractFragile X syndrome (FXS) is the most common inherited form of intellectual disability. Patients with FXS do not only suffer from cognitive... 
Locomotion | Cue recognition | Avoidance behavior | Procedural memory formation | MGluR5 inhibitor | Erasmus Ladder | Fragile X syndrome | Motor learning | Fmr1 KO | motor learning | mGluR5 inhibitor | procedural memory formation | cue recognition | locomotion | PROTEIN | MENTAL-RETARDATION | BEHAVIOR | FENOBAM | NEUROSCIENCES | RECEPTOR ANTAGONIST | KNOCK | POTENT | FRAGILE-X-SYNDROME | BEHAVIORAL SCIENCES | FRAXA | MOTOR DEFICITS | Memory Disorders - physiopathology | Cognition Disorders - physiopathology | Memory Disorders - genetics | Fragile X Syndrome - physiopathology | Mice, Inbred C57BL | Excitatory Amino Acid Antagonists - toxicity | Receptors, Metabotropic Glutamate - physiology | Cognition Disorders - genetics | Avoidance Learning - physiology | Cognition Disorders - drug therapy | Fragile X Syndrome - complications | Discrimination Learning - physiology | Mice, Knockout | Animals | Discrimination Learning - drug effects | Memory Disorders - drug therapy | Fragile X Syndrome - psychology | Receptor, Metabotropic Glutamate 5 | Avoidance Learning - drug effects | Fragile X Mental Retardation Protein - genetics | Imidazoles - toxicity | Mice | Receptors, Metabotropic Glutamate - antagonists & inhibitors | Disease Models, Animal | Deregulation | Neurosciences | Glutamate | Animal behavior | Mental illness | Analysis | Rodents | Memory | Discrimination | Original
Journal Article
Annals of Endocrinology (Annales D'Endocrinologie, English Edition), ISSN 0003-4266, 2010, Volume 71, Issue 3, pp. 215 - 217
Résumé La recherche de prémutations exposant au risque de syndrome de l’X fragile est recommandée en routine chez toutes les femmes présentant une insuffisance... 
Internal Medicine | Endocrinology & Metabolism | Prémutations de l’X fragile | Insuffisance ovarienne prématurée | FRAXA premutation | Premature ovarian failure | Prémutation FRAXA | Fragile X premutations | WOMEN | HORMONE | ENDOCRINOLOGY & METABOLISM | FRAGILE-X PREMUTATION | DISORDERS | CARRIERS
Journal Article
Human Reproduction, ISSN 0268-1161, 08/2003, Volume 18, Issue 8, pp. 1637 - 1640
Journal Article
Human Reproduction, ISSN 0268-1161, 2000, Volume 15, Issue 11, pp. 2418 - 2422
Premature ovarian failure (POF) is defined as ovarian failure occurring before the age of 40 years, A genetic aetiology is suggested by the occurrence of... 
BPES/FRAXA premutation | Premature ovarian failure | X chromosome | PREMUTATION | BPES | FRAGILE-X | EPICANTHUS INVERSUS SYNDROME | premature ovarian failure | LONG ARM | DELETION | OBSTETRICS & GYNECOLOGY | WOMEN | REPRODUCTIVE BIOLOGY | STIMULATING-HORMONE RECEPTOR | GENE | MUTATION | FRAXA premutation | EARLY MENOPAUSE
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2015, Volume 167, Issue 10, pp. 2306 - 2313
Journal Article