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Fragile X syndrome
LE WE PMID CA
Fragile X syndrome925Fragiles X Syndrom

Angelman s syndrome

Aripiprazole

Autism

Catch22

CMV

CNS (Development)

Cornelia de Lange syndrome

Down s syndrome

FMR1 FMRP

FRA12A mental retardation

Fragile X associated tremor ataxia syndrome

Fragile X syndrome

FRAXE mental retardation

Friedreich ataxia

Genetics (Trinucleotide deletion)

Genetics (Trinucleotide repeat)

HOXA1

MECP2

Myotonic dystrophy

Neurofibromatosis

Neuroligin3 NLGN3

Neuroligin4 NLGN4

NRXN1 Neurexin1

Ovary (Insufficiency premature)

Pervasive developmental disorder

Phenylketonuria

PTEN MMAC1 TEP1

Rett s syndrome

Rubella

SHANK3

Synapse

Thalidomide

Tuberous sclerosis

Turner s syndrome

Valproic acid

Williams syndrome

2008  
1
Fragile X syndrome in Korea: a case series and a review of the literature.
[18583885] J Korean Med Sci 23(3): 470-6 (2008)
1994  
2
2009  
3
Systematic review of pharmacological treatments in fragile X syndrome.
[19822023] BMC Neurol 9(-): 53 (2009)
2003  
4
Screening for fragile X syndrome: a literature review and modelling study.
[12969542] Health Technol Assess 7(16): 1-106 (2003)
2004  
5
The fragile-X premutation: a maturing perspective.
[15052536] Am J Hum Genet 74(5): 805-16 (2004)
1989  
6
2000  
7
Dendritic spine structural anomalies in fragile-X mental retardation syndrome.
[11007554] Cereb Cortex 10(10): 1038-44 (2000)
2008  
8
2000  
9
Understanding the molecular basis of fragile X syndrome.
[10767313] Hum Mol Genet 9(6): 901-8 (2000)
1998  
10
1993  
11
Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation.
[8100582] J Med Genet 30(5): 410-3 (1993)
1991  
12
Molecular genetics of fragile X: a cytogenetics viewpoint. Report of the Fifth International Symposium on X Linked Mental Retardation, Strasbourg, France, 12 to 16 August 1991 (organiser Dr J-L Mandel).
[1757955] J Med Genet 28(12): 814-7 (1991)
1991  
13
Cloning of the gene for the fragile X syndrome: implications for the clinical geneticist.
[1757954] J Med Genet 28(12): 811-3 (1991)
1991  
14
1989  
15
Intelligence and cognitive profile in the fra(X) syndrome: a longitudinal study in 18 fra(X) boys.
[2746616] J Med Genet 26(7): 443-6 (1989)
1984  
16
The fragile X syndrome: the patients and their chromosomes.
[6371234] J Med Genet 21(2): 84-91 (1984)
2006  
17
Local protein synthesis and spine morphogenesis: Fragile X syndrome and beyond.
[16822971] J Neurosci 26(27): 7151-5 (2006)
2009  
18
Advances in the treatment of fragile X syndrome.
[19117905] Pediatrics 123(1): 378-90 (2009)
1997  
19
Fragile X syndrome. Molecular and clinical insights and treatment issues.
[9109330] West J Med 166(2): 129-37 (1997)
1999  
20
2009  
21
Fragile X: a family of disorders.
[19968948] Adv Pediatr 56(-): 165-86 (2009)
2007  
22
A genetic etiology of pervasive developmental disorder guides treatment.
[17403969] Am J Psychiatry 164(4): 575-80 (2007)
2009  
23
2004  
24
Molecular diagnosis and genetic counseling for fragile X mental retardation.
[15069237] Neurol India 52(1): 36-42 (2004)
2009  
25
Chromatin remodeling in the noncoding repeat expansion diseases.
[18957431] J Biol Chem 284(12): 7413-7 (2009)
2009  
26
Mutation spectra in fragile X syndrome induced by deletions of CGG*CCG repeats.
[18957433] J Biol Chem 284(12): 7407-11 (2009)
2010  
27
Involvement and therapeutic potential of the GABAergic system in the fragile X syndrome.
[21057732] ScientificWorldJournal 10(-): 2198-206 (2010)
2010  
28
Aripiprazole in autism spectrum disorders and fragile X syndrome.
[20643378] Neurotherapeutics 7(3): 258-63 (2010)
2007  
29
Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X.
[17097142] Neurosci Biobehav Rev 31(3): 315-26 (2007)
2009  
30
Treatments for fragile X syndrome: a closer look at the data.
[20014373] Dev Disabil Res Rev 15(4): 353-60 (2009)
2009  
31
Mouse models of fragile X-associated tremor ataxia.
[19574928] J Investig Med 57(8): 837-41 (2009)
2009  
32
A review of fragile X premutation disorders: expanding the psychiatric perspective.
[19422761] J Clin Psychiatry 70(6): 852-62 (2009)
2011  
33
Regulation of molecular pathways in the Fragile X Syndrome: insights into Autism Spectrum Disorders.
[21842222] J Neurodev Disord 3(3): 257-69 (2011)
2009  
34
The state of synapses in fragile X syndrome.
[19325170] Neuroscientist 15(5): 549-67 (2009)
2009  
35
Insights into brain development from neurogenetic syndromes: evidence from fragile X syndrome, Williams syndrome, Turner syndrome and velocardiofacial syndrome.
[19376197] Neuroscience 164(1): 257-71 (2009)
2011  
36
2009  
37
Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist.
[18728070] J Med Genet 46(1): 1-8 (2009)
2011  
38
The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge.
[21912443] Clin Biochem Rev 32(3): 135-62 (2011)

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