-
1
-
-
69249118680
-
Screening for expanded alleles of the fmr1 gene in blood spots from newborn males in a spanish population
-
Fernandez-Carvajal I, Walichiewicz P, Xiaosen X et al (2009) Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population. J Mol Diagn 11:324-328
-
(2009)
J Mol Diagn
, vol.11
, pp. 324-328
-
-
Fernandez-Carvajal, I.1
Walichiewicz, P.2
Xiaosen, X.3
-
2
-
-
18444361806
-
Prevalence of the fragile X syndrome in African-Americans
-
DOI 10.1002/ajmg.10427
-
Crawford DC, Meadows KL, Newman JL et al (2002) Prevalence of the fragile X syndrome in African Americans. Am J Med Genet 110:226-233 (Pubitemid 34627626)
-
(2002)
American Journal of Medical Genetics
, vol.110
, Issue.3
, pp. 226-233
-
-
Crawford, D.C.1
Meadows, K.L.2
Newman, J.L.3
Taft, L.F.4
Scott, E.5
Leslie, M.6
Shubek, L.7
Holmgreen, P.8
Yeargin-Allsopp, M.9
Boyle, C.10
Sherman, S.L.11
-
3
-
-
0033906467
-
Screening for fragile X syndrome in women of reproductive age
-
DOI 10.1002/1097-0223(200008)20:8<611::AID-PD881>3.0.CO;2-M
-
Pesso R, Berkenstadt M, Cuckle H et al (2000) Screening for fragile X syndrome in women of reproductive age. Prenat Diagn 20:611-614 (Pubitemid 30598904)
-
(2000)
Prenatal Diagnosis
, vol.20
, Issue.8
, pp. 611-614
-
-
Pesso, R.1
Berkenstadt, M.2
Cuckle, H.3
Gak, E.4
Peleg, L.5
Frydman, M.6
Barkai, G.7
-
5
-
-
0034917943
-
Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel
-
DOI 10.1086/321974
-
Toledano-Alhadef H, Basel-Vanagaite L, Magal N et al (2001) Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel. Am J Hum Genet 69:351-360 (Pubitemid 32695207)
-
(2001)
American Journal of Human Genetics
, vol.69
, Issue.2
, pp. 351-360
-
-
Toledano-Alhadef, H.1
Basel-Vanagaite, L.2
Magal, N.3
Davidov, B.4
Ehrlich, S.5
Drasinover, V.6
Taub, E.7
Halpern, G.J.8
Ginott, N.9
Shohat, M.10
-
6
-
-
0028799833
-
Prevalence of carriers of premutation-size alleles of the fmr1 gene-and implications for the population genetics of the fragile x syndrome
-
Rousseau F, Rouillard P, Morel ML, Khandjian EW, Morgan K (1995) Prevalence of carriers of premutation-size alleles of the FMR1 gene-and implications for the population genetics of the fragile X syndrome. Am J Hum Genet 57:1006-1018
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1006-1018
-
-
Rousseau, F.1
Rouillard, P.2
Morel, M.L.3
Khandjian, E.W.4
Morgan, K.5
-
7
-
-
0037084852
-
Premutation and intermediate-size FMR1 alleles in 10 572 males from the general population: Loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles
-
Dombrowski C, Lévesque S, Morel ML, Rouillard P, Morgan K, Rousseau F (2002) Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles. Hum Mol Genet 11:371-378 (Pubitemid 34213610)
-
(2002)
Human Molecular Genetics
, vol.11
, Issue.4
, pp. 371-378
-
-
Dombrowski, C.1
Levesque, S.2
Morel, M.L.3
Rouillard, P.4
Morgan, K.5
Rousseau, F.6
-
8
-
-
12944300322
-
Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype
-
DOI 10.1002/ajmg.a.30528
-
Tzeng C, Tsai L, Hwu W et al (2005) Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548 FRAXAC1 haplotype. Am J Med Genet A 133:37-43 (Pubitemid 40175562)
-
(2005)
American Journal of Medical Genetics
, vol.133 A
, Issue.1
, pp. 37-43
-
-
Tzeng, C.-C.1
Tsai, L.-P.2
Hwu, W.-L.3
Lin, S.-J.4
Chao, M.-C.5
Jong, Y.-J.6
Chu, S.-Y.7
Chao, W.-C.8
Lu, C.-L.9
-
9
-
-
0025021038
-
Neuropsychological dysfunction among affected heterozygous fragile X females
-
DOI 10.1002/ajmg.1320350107
-
Grigsby JP, Kemper MB, Hagerman RJ, Myers CS (1990) Neuropsychological dysfunction among affected heterozygous fragile X females. Am J Med Genet 35:28-35 (Pubitemid 20027815)
-
(1990)
American Journal of Medical Genetics
, vol.35
, Issue.1
, pp. 28-35
-
-
Grigsby, J.P.1
Kemper, M.B.2
Hagerman, R.J.3
Myers, C.S.4
-
10
-
-
0026651088
-
Verbal learning and memory among heterozygous fragile x females
-
Grigsby J, Kemper MB, Hagerman RJ (1992) Verbal learning and memory among heterozygous fragile X females. Am J Med Genet 43:111-115
-
(1992)
Am J Med Genet
, vol.43
, pp. 111-115
-
-
Grigsby, J.1
Kemper, M.B.2
Hagerman, R.J.3
-
11
-
-
0027674521
-
The neurocognitive phenotype of female carriers of fragile x: Additional evidence for specificity
-
Mazzocco MM, Pennington BF, Hagerman RJ (1993) The neurocognitive phenotype of female carriers of fragile X: additional evidence for specificity. J Dev Behav Pediatr 14:328-335
-
(1993)
J Dev Behav Pediatr
, vol.14
, pp. 328-335
-
-
Mazzocco, M.M.1
Pennington, B.F.2
Hagerman, R.J.3
-
12
-
-
0025905795
-
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
-
Verkerk AJMH, Pieretti M, Sutcliffe JS et al (1991) Identification of a gene (FMR1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65:905-914 (Pubitemid 121001321)
-
(1991)
Cell
, vol.65
, Issue.5
, pp. 905-914
-
-
Verkerk, A.J.M.H.1
Pieretti, M.2
Sutcliffe, J.S.3
Fu, Y.-H.4
Kuhl, D.P.A.5
Pizzuti, A.6
Reiner, O.7
Richards, S.8
Victoria, M.F.9
Zhang, F.10
Eussen, B.E.11
Van Ommen, G.-J.B.12
Blonden, L.A.J.13
Riggins, G.J.14
Chastain, J.L.15
Kunst, C.B.16
Galjaard, H.17
Caskey, C.T.18
Nelson, D.L.19
Oostra, B.A.20
Warren, S.T.21
more..
-
13
-
-
0026347628
-
Fragile X genotype characterized by an unstable region of DNA
-
Yu S, Pritchard M, Kremer E et al (1991) Fragile-X genotype characterized by an unstable region of DNA. Science 252:1179-1181 (Pubitemid 21917032)
-
(1991)
Science
, vol.252
, Issue.5009
, pp. 1179-1181
-
-
Yu, S.1
Pritchard, M.2
Kremer, E.3
Lynch, M.4
Nancarrow, J.5
Baker, E.6
Holman, K.7
Mulley, J.C.8
Warren, S.T.9
Schlessinger, D.10
Sutherland, G.R.11
Richards, R.I.12
-
14
-
-
77949267659
-
Profiling fragile x syndrome in males: Strengths and weaknesses in cognitive abilities
-
Van der Molen M, Huizinga M, Huizenga HM et al (2010) Profiling fragile X syndrome in males: strengths and weaknesses in cognitive abilities. Res Dev Disabil 31:426-439
-
(2010)
Res Dev Disabil
, vol.31
, pp. 426-439
-
-
Van Der Molen, M.1
Huizinga, M.2
Huizenga, H.M.3
-
15
-
-
2542583041
-
Fragile X mental retardation syndrome: From pathogenesis to diagnostic issues
-
Mandel JL, Biancalana V (2004) Fragile X mental retardation syndrome: from pathogenesis to diagnostic issues. Growth Horm IGF Res 14(Suppl A):S158-S165 (Pubitemid 38701849)
-
(2004)
Growth Hormone and IGF Research
, vol.14
, Issue.SUPPL. A
-
-
Mandel, J.L.1
Biancalana, V.2
-
17
-
-
0021329875
-
An anthropometric study of males with the fragile X syndrome
-
Meryash DL, Cronk CE, Sachs B, Gerald PS (1984) An anthropometric study of males with the fragile-X syndrome. Am J Med Genet 17:159-174 (Pubitemid 14185060)
-
(1984)
American Journal of Medical Genetics
, vol.17
, Issue.1
, pp. 159-174
-
-
Meryash, D.L.1
Cronk, C.E.2
Sachs, B.3
Gerald, P.S.4
-
18
-
-
0001966753
-
Physical and behavioural phenotype
-
In Hagerman RJ, Hagerman P (eds) 3rd edn. The Johns Hopkins University Press, Baltimore
-
Hagerman RJ (2002) Physical and behavioural phenotype. In: Hagerman RJ, Hagerman P (eds) Fragile X syndrome: diagnosis, treatment and research, 3rd edn. The Johns Hopkins University Press, Baltimore, pp 3-109
-
(2002)
Fragile X Syndrome: Diagnosis, Treatment and Research
, pp. 3-109
-
-
Hagerman, R.J.1
-
21
-
-
33845323746
-
Fragile-x syndrome and fragile X-associated tremor/ataxia syndrome: Two faces of FMR1
-
DOI 10.1016/S1474-4422(06)70676-7, PII S1474442206706767
-
Jacquemont S, Hagerman RJ, Hagerman P, Leehey M (2007) Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. Lancet Neurol 6:45-55 (Pubitemid 44880272)
-
(2007)
Lancet Neurology
, vol.6
, Issue.1
, pp. 45-55
-
-
Jacquemont, S.1
Hagerman, R.J.2
Hagerman, P.J.3
Leehey, M.A.4
-
23
-
-
0003313868
-
An integrated approach to intervention
-
In Hagerman R, Cronister A (eds) The Johns Hopkins University Press, Baltimore
-
Scharfenaker S, O'Connor R, Stackhouse R et al (1996) An integrated approach to intervention. In: Hagerman R, Cronister A (eds) Fragile X syndrome: diagnosis treatment and research. The Johns Hopkins University Press, Baltimore, pp 349-411
-
(1996)
Fragile X syndrome: diagnosis treatment and research
, pp. 349-411
-
-
Scharfenaker, S.1
O'Connor, R.2
Stackhouse, R.3
-
24
-
-
0002179170
-
Neuropsychiatric aspects of fragile x syndrome
-
Levitas A (1996) Neuropsychiatric aspects of fragile X syndrome. Semin Clin Neuropsychiatry 1:154-167
-
(1996)
Semin Clin Neuropsychiatry
, vol.1
, pp. 154-167
-
-
Levitas, A.1
-
25
-
-
0028297411
-
Aberrant behaviors of young boys with fragile X syndrome
-
Lachiewicz AM, Spiridigliozzi GA, Gullion CM et al (1994) Aberrant behaviours of young boys with fragile X syndrome. Am J Ment Retard 98:567-579 (Pubitemid 24096753)
-
(1994)
American Journal on Mental Retardation
, vol.98
, Issue.5
, pp. 567-579
-
-
Lachiewicz, A.M.1
Spiridigliozzi, G.A.2
Gullion, C.M.3
Ransford, S.N.4
Rao, K.5
-
26
-
-
33748295575
-
Autistic behavior in children with fragile X syndrome: Prevalence, stability, and the impact of FMRP
-
DOI 10.1002/ajmg.a.31286
-
Hatton D, Sideris J, Skinner M et al (2006) Autistic behaviour in children with fragile X syndrome: prevalence, stability, and the impact of FMRP. Am J Med Genet 140:1804-1813 (Pubitemid 44330644)
-
(2006)
American Journal of Medical Genetics, Part A
, vol.140
, Issue.17
, pp. 1804-1813
-
-
Hatton, D.D.1
Sideris, J.2
Skinner, M.3
Mankowski, J.4
Bailey Jr., D.B.5
Roberts, J.6
Mirrett, P.7
-
27
-
-
4444322917
-
Autism spectrum disorder in fragile X syndrome: Communication, social interaction, and specific behaviors
-
DOI 10.1002/ajmg.a.30229
-
Kaufmann WE, Cortell R, Kau AS et al (2004) Autism spectrum disorder in fragile X syndrome: communication, social interaction, and specific behaviors. Am J Med Genet 129A:225-234 (Pubitemid 39166187)
-
(2004)
American Journal of Medical Genetics
, vol.129 A
, Issue.3
, pp. 225-234
-
-
Kaufmann, W.E.1
Cortell, R.2
Kau, A.S.M.3
Bukelis, I.4
Tierney, E.5
Gray, R.M.6
Cox, C.7
Capone, G.T.8
Stanard, P.9
-
28
-
-
0035675794
-
The behavioral phenotype in fragile X: Symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders
-
Rogers SJ, Wehner EA, Hagerman RJ et al (2001) The behavioural phenotype in fragile X: symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders. J Dev Behav Pediatr 22:409-417 (Pubitemid 34026944)
-
(2001)
Journal of Developmental and Behavioral Pediatrics
, vol.22
, Issue.6
, pp. 409-417
-
-
Rogers, S.J.1
Wehner, E.A.2
Hagerman, R.3
-
29
-
-
56649106246
-
Autism profiles of males with fragile x syndrome
-
Harris S, Hessl D, Goodlin-Jones B et al (2008) Autism profiles of males with fragile x syndrome. Am J Ment Retard 113:427-438
-
(2008)
Am J Ment Retard
, vol.113
, pp. 427-438
-
-
Harris, S.1
Hessl, D.2
Goodlin-Jones, B.3
-
30
-
-
0042009485
-
Behavioural relationship between autism and fragile x syndrome
-
Demark JL, Feldman MA, Holden JJ (2003) Behavioural relationship between autism and fragile X syndrome. Am J Ment Retard 108:314-326
-
(2003)
Am J Ment Retard
, vol.108
, pp. 314-326
-
-
Demark, J.L.1
Feldman, M.A.2
Holden, J.J.3
-
32
-
-
37849047416
-
Brief report: Aggression and stereotypic behaviour in males with fragile x syndrome-moderating secondary genes in a "single gene" disorder
-
Hessl D, Tassone F, Cordeiro L et al (2008) Brief report: aggression and stereotypic behaviour in males with fragile X syndrome-moderating secondary genes in a "single gene" disorder. J Autism Dev Disord 38:184-189
-
(2008)
J Autism Dev Disord
, vol.38
, pp. 184-189
-
-
Hessl, D.1
Tassone, F.2
Cordeiro, L.3
-
33
-
-
4544306641
-
Neuropsychiatric symptoms of fragile X syndrome: Pathophysiology and pharmacotherapy
-
DOI 10.2165/00023210-200418110-00001
-
Tsiouris JA, Brown WT (2004) Neuropsychiatric symptoms of fragile X syndrome: pathophysiology and pharmacotherapy. CNS Drugs 18:687-703 (Pubitemid 39243564)
-
(2004)
CNS Drugs
, vol.18
, Issue.11
, pp. 687-703
-
-
Tsiouris, J.A.1
Brown, W.T.2
-
35
-
-
85128246040
-
Clinical assessment of dsm-iv anxiety disorders in fragile x syndrome: Prevalence and characterization
-
Cordeiro L, Ballinger E, Hagerman R, Hessl D (2011) Clinical assessment of DSM-IV anxiety disorders in fragile X syndrome: prevalence and characterization. J Neurodev Disord 3:1-11
-
(2011)
J Neurodev Disord
, vol.3
, pp. 1-11
-
-
Cordeiro, L.1
Ballinger, E.2
Hagerman, R.3
Hessl, D.4
-
36
-
-
0021797558
-
Learning disabilities and attentional problems in boys with the fragile X syndrome
-
Hagerman R, Kemper M, Hudson M (1985) Learning disabilities and attentional problems in boys with the fragile X syndrome. Am J Dis Child 139:674-678 (Pubitemid 15006403)
-
(1985)
American Journal of Diseases of Children
, vol.139
, Issue.7
, pp. 674-678
-
-
Hagerman, R.1
Kemper, M.2
Hudson, M.3
-
37
-
-
84894454320
-
A solution to limitations of cognitive testing in children with intellectual disabilities: The case of fragile x syndrome
-
Hessl D, Nguyen DV, Green C et al (2008) A solution to limitations of cognitive testing in children with intellectual disabilities: the case of fragile X syndrome. J Neurodev Disord 1:33-45
-
(2008)
J Neurodev Disord
, vol.1
, pp. 33-45
-
-
Hessl, D.1
Nguyen, D.V.2
Green, C.3
-
38
-
-
0000310701
-
Strengths and weaknesses in the intellectual functioning of males with fragile x syndrome
-
Dykens EM, Hoddap RM, Leckman JF (1987) Strengths and weaknesses in the intellectual functioning of males with fragile X syndrome. Am J Med Genet 28:13-15
-
(1987)
Am J Med Genet
, vol.28
, pp. 13-15
-
-
Dykens, E.M.1
Hoddap, R.M.2
Leckman, J.F.3
-
39
-
-
0025974956
-
Cognitive profiles associated with the fragile x syndrome in males and females
-
Freund LS, Reiss AL (1991) Cognitive profiles associated with the fragile X syndrome in males and females. Am J Med Genet 38:542-547
-
(1991)
Am J Med Genet
, vol.38
, pp. 542-547
-
-
Freund, L.S.1
Reiss, A.L.2
-
40
-
-
0022571185
-
Cognitive profiles and the spectrum of clinical manifestations in heterozygous fra(X) females
-
Kemper MB, Hagerman RJ, Ahmad RS, Mariner R (1986) Cognitive profiles and the spectrum of clinical manifestations in heterozygous fragile X females. Am J Med Genet 23:139-156 (Pubitemid 16139722)
-
(1986)
American Journal of Medical Genetics
, vol.23
, Issue.1-2
, pp. 139-156
-
-
Kemper, M.B.1
Hagerman, R.J.2
Ahmad, R.S.3
Mariner, R.4
-
41
-
-
0032951157
-
Spatial cognition in males with Fragile-X syndrome: Evidence for a neuropsychological phenotype
-
Cornish KM, Munira F, Cross G (1999) Spatial cognition in males with fragile X syndrome: evidence for a neuropsychological phenotype. Cortex 35:263-271 (Pubitemid 29221707)
-
(1999)
Cortex
, vol.35
, Issue.2
, pp. 263-271
-
-
Cornish, K.M.1
Munir, F.2
Cross, G.3
-
42
-
-
0029586063
-
Adult fragile X syndrome: Neuropsychology, brain anatomy, and metabolism
-
DOI 10.1002/ajmg.1320600603
-
Shapiro MB, Murphy DGM, Hagerman RJ et al (1995) Adult fragile X syndrome: neuropsychology, brain anatomy and metabolism. Am J Med Genet 60:480-493 (Pubitemid 26002115)
-
(1995)
American Journal of Medical Genetics - Neuropsychiatric Genetics
, vol.60
, Issue.6
, pp. 480-493
-
-
Schapiro, M.B.1
Murphy, D.G.M.2
Hagerman, R.J.3
Azari, N.P.4
Alexander, G.E.5
Miezejeski, C.M.6
Hinton, V.J.7
Horwitz, B.8
Haxby, J.V.9
Kumar, A.10
White, B.11
Grady, C.L.12
-
43
-
-
0034256980
-
A neuropsychological profile of attention deficits in young males with fragile X syndrome
-
DOI 10.1016/S0028-3932(00)00036-1, PII S0028393200000361
-
Munir F, Cornish K, Wilding J (2000) A neuropsychological profile of attention deficits in young males with fragile X syndrome. Neuropsychologia 38:1261-1270 (Pubitemid 30345521)
-
(2000)
Neuropsychologia
, vol.38
, Issue.9
, pp. 1261-1270
-
-
Munir, F.1
Cornish, K.M.2
Wilding, J.3
-
45
-
-
0034537428
-
Nature of the working memory deficit in Fragile-X syndrome
-
DOI 10.1006/brcg.1999.1200
-
Munir F, Cornish KM, Wilding J (2000) Nature of the working memory deficit in fragile X syndrome. Brain Cogn 44:387-401 (Pubitemid 32001410)
-
(2000)
Brain and Cognition
, vol.44
, Issue.3
, pp. 387-401
-
-
Munir, F.1
Cornish, K.M.2
Wilding, J.3
-
47
-
-
0023688156
-
Clinical features and reproductive patterns in fragile x female heterozygotes
-
Loesch DZ, Hay DA (1988) Clinical features and reproductive patterns in fragile X female heterozygotes. J Med Genet 25:407-414
-
(1988)
J Med Genet
, vol.25
, pp. 407-414
-
-
Loesch, D.Z.1
Hay, D.A.2
-
48
-
-
0026500880
-
Girls with fragile x syndrome: Physical and neurocognitive status and outcome
-
Hagerman RJ, Jackson C, Amiri K et al (1992) Girls with fragile X syndrome: physical and neurocognitive status and outcome. Pediatrics 89:395-400
-
(1992)
Pediatrics
, vol.89
, pp. 395-400
-
-
Hagerman, R.J.1
Jackson, C.2
Amiri, K.3
-
50
-
-
0031978146
-
Phenotypic involvement in females with the FMR1 gene mutation
-
DOI 10.1352/0895-8017(1998)102<0590:PIIFWT>2.0.CO;2
-
Riddle JE, Cheema A, Sobesky WE et al (1998) Phenotypic involvement in females with the FMR1 gene mutation. Am J Ment Retard 102:590-601 (Pubitemid 28224438)
-
(1998)
American Journal on Mental Retardation
, vol.102
, Issue.6
, pp. 590-601
-
-
Riddle, J.E.1
Cheema, A.2
Sobesky, W.E.3
Gardner, S.C.4
Taylor, A.K.5
Pennington, B.F.6
Hagerman, R.J.7
-
51
-
-
0033612144
-
FMRP expression as a potential prognostic indicator in fragile X syndrome
-
DOI 10.1002/(SICI)1096-8628(19990528)84:3<250::AID-AJMG17>3.0.CO;2- 4
-
Tassone F, Hagerman RJ, Ikle DN et al (1999) FMR1 protein expression as a potential prognostic indicator in fragile X syndrome. Am J Med Genet 84:250-261 (Pubitemid 29206978)
-
(1999)
American Journal of Medical Genetics
, vol.84
, Issue.3
, pp. 250-261
-
-
Tassone, F.1
Hagerman, R.J.2
Ikle, D.N.3
Dyer, P.N.4
Lampe, M.5
Willemsen, R.6
Oostra, B.A.7
Taylor, A.K.8
-
53
-
-
0036514351
-
Genetic and environmental influences on the cognitive outcomes of children with fragile x syndrome
-
DOI 10.1097/00004583-200203000-00002
-
Dyer-Friedman J, Glaser B, Hessl D et al (2002) Genetic and environmental influences on the cognitive outcomes of children with fragile X syndrome. J Am Acad Child Adolesc Psychiatry 41(3):237-244 (Pubitemid 38338144)
-
(2002)
Journal of the American Academy of Child and Adolescent Psychiatry
, vol.41
, Issue.3
, pp. 237-244
-
-
Dyer-Friedman, J.1
Glaser, B.2
Hessl, D.3
Johnston, C.4
Huffman, L.C.5
Taylor, A.6
Wisbeck, J.7
Reiss, A.L.8
-
54
-
-
0028838676
-
Contribution of the fmr1 gene mutation to human intellectual dysfunction
-
Reiss AL, Freund LS, Baumgardner TL, Abrams MT, Denckla MB (1995) Contribution of the FMR1 gene mutation to human intellectual dysfunction. Nat Genet 11:331-334
-
(1995)
Nat Genet
, vol.11
, pp. 331-334
-
-
Reiss, A.L.1
Freund, L.S.2
Baumgardner, T.L.3
Abrams, M.T.4
Denckla, M.B.5
-
55
-
-
0027511297
-
Psychiatric disorders associated with fragile X in the young female
-
Freund L, Reiss AL, Abrams M (1993) Psychiatric disorders associate with fragile X in the young female. Paediatrics 91:321-329 (Pubitemid 23042311)
-
(1993)
Pediatrics
, vol.91
, Issue.2
, pp. 321-329
-
-
Freund, L.S.1
Reiss, A.L.2
Abrams, M.T.3
-
56
-
-
84862523549
-
Epidemiology of depressive symptomatology in adolescents
-
Kaplan SC, Hong GK, Weinhold C (1986) Epidemiology of depressive symptomatology in adolescents. Am J Psychiatry 18:343-354
-
(1986)
Am J Psychiatry
, vol.18
, pp. 343-354
-
-
Kaplan, S.C.1
Hong, G.K.2
Weinhold, C.3
-
57
-
-
58849100848
-
Mood and anxiety disorders in females with the fmr1 premutation
-
Roberts JE, Bailey DB Jr., Mankowski J et al (2009) Mood and anxiety disorders in females with the FMR1 premutation. Am J Med Genet 150B:130-139
-
(2009)
Am J Med Genet
, vol.150 B
, pp. 130-139
-
-
Roberts, J.E.1
Bailey Jr., D.B.2
Mankowski, J.3
-
58
-
-
0023855391
-
Psychiatric disability in female carriers of the fragile X chromosome
-
Reiss AL, Hagerman RJ, Vingradov S, Abrams M, King RJ (1988) Psychiatric disability in female carriers of the fragile X chromosome. Arch Gen Psychiatry 45:25-30 (Pubitemid 18018566)
-
(1988)
Archives of General Psychiatry
, vol.45
, Issue.1
, pp. 25-30
-
-
Reiss, A.L.1
Hagerman, R.J.2
Vinogradov, S.3
Abrams, M.4
King, R.J.5
-
59
-
-
0026520331
-
Chromosome fragility and psychopathology in obligate female carriers of the fragile x chromosome
-
Freund LS, Reiss AL (1992) Chromosome fragility and psychopathology in obligate female carriers of the fragile X chromosome. Arch Gen Psychiatry 49:54-60
-
(1992)
Arch Gen Psychiatry
, vol.49
, pp. 54-60
-
-
Freund, L.S.1
Reiss, A.L.2
-
60
-
-
0030054149
-
Learning-disabled males with a fragile X CGG expansion in the upper premutation size range
-
Hagerman RJ, Staley LW, O'Connor R et al (1996) Learning disabled males with a fragile X CGG expansion in the upper premutation range. Paediatrics 97:122-126 (Pubitemid 26012623)
-
(1996)
Pediatrics
, vol.97
, Issue.1
, pp. 122-126
-
-
Hagerman, R.J.1
Staley, L.W.2
O'Conner, R.3
Lugenbeel, K.4
Nelson, D.5
Mclean, S.D.6
Taylor, A.7
-
61
-
-
0028237294
-
Transmitting males and carrier females in fragile X - Revisited
-
DOI 10.1002/ajmg.1320510418
-
Loesch DZ, Hay DA, Mulley JC (1994) Transmitting males and carrier females in fragile X revisited. Am J Med Genet 51:392-399 (Pubitemid 24197710)
-
(1994)
American Journal of Medical Genetics
, vol.51
, Issue.4
, pp. 392-399
-
-
Loesch, D.Z.1
Hay, D.A.2
Mulley, J.3
-
62
-
-
4544347583
-
The effect of pre-mutation of X chromosome CGG trinucleotide repeats on brain anatomy
-
DOI 10.1093/brain/awh256
-
Moore CJ, Daly EM, Tassone F et al (2004) The effect of premutation of X chromosome CGG trinucleotide repeats on brain anatomy. Brain 127:2672-2681 (Pubitemid 39627376)
-
(2004)
Brain
, vol.127
, Issue.12
, pp. 2672-2681
-
-
Moore, C.J.1
Daly, E.M.2
Tassone, F.3
Tysoe, C.4
Schmitz, N.5
Ng, V.6
Chitnis, X.7
McGuire, P.8
Suckling, J.9
Davies, K.E.10
Hagerman, R.J.11
Hagerman, P.J.12
Murphy, K.C.13
Murphy, D.G.M.14
-
64
-
-
33750283784
-
Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation
-
PII 0000470320060400200012
-
Farzin F, Perry H, Hessl D et al (2006) Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation. J Dev Behav Pediatr 27(2):S137-S144 (Pubitemid 44620295)
-
(2006)
Journal of Developmental and Behavioral Pediatrics
, vol.27
, Issue.2 SUPPL. 2
-
-
Farzin, F.1
Perry, H.2
Hessl, D.3
Loesch, D.4
Cohen, J.5
Bacalman, S.6
Gane, L.7
Tassone, F.8
Hagerman, P.9
Hagerman, R.10
-
65
-
-
0041819618
-
Clinical features of boys with fragile X premutations and intermediate alleles
-
Aziz M, Stathopulu E, Callias M et al (2003) Clinical features of boys with fragile X premutations and intermediate alleles. Am J Med Genet 121B(1):119-127 (Pubitemid 37064041)
-
(2003)
American Journal of Medical Genetics - Neuropsychiatric Genetics
, vol.121 B
, Issue.1
, pp. 119-127
-
-
Aziz, M.1
Stathopulu, E.2
Callias, M.3
Taylor, C.4
Turk, J.5
Oostra, B.6
Willemsen, R.7
Patton, M.8
-
66
-
-
12744260103
-
Autistic spectrum disorder and the fragile x premutation
-
Goodlin-Jones B, Tassone F, Gane LW, Hagerman RJ (2004) Autistic spectrum disorder and the fragile X premutation. J Dev Behav Pediatr 25(6):392-398
-
(2004)
J Dev Behav Pediatr
, vol.25
, Issue.6
, pp. 392-398
-
-
Goodlin-Jones, B.1
Tassone, F.2
Gane, L.W.3
Hagerman, R.J.4
-
67
-
-
11144293459
-
The emerging fragile X premutation phenotype: Evidence from the domain of social cognition
-
DOI 10.1016/j.bandc.2004.08.020, PII S0278262604002167
-
Cornish KM, Kogan C, Turk J et al (2005) The emerging fragile X premutation phenotype: evidence from the domain of social cognition. Brain Cogn 57(1):53-60 (Pubitemid 40040531)
-
(2005)
Brain and Cognition
, vol.57
, Issue.1
, pp. 53-60
-
-
Cornish, K.1
Kogan, C.2
Turk, J.3
Manly, T.4
James, N.5
Mills, A.6
Dalton, A.7
-
68
-
-
0342699760
-
Early development, temperament, and functional impairment in autism and fragile X syndrome
-
DOI 10.1023/A:1005412111706
-
Bailey DB Jr., Hatton DD, Mesibov GB, Ament N, Skinner M (2000) Early development, temperament and functional impairment in autism and fragile X syndrome. J Autism Dev Disord 30:49-59 (Pubitemid 30216633)
-
(2000)
Journal of Autism and Developmental Disorders
, vol.30
, Issue.1
, pp. 49-59
-
-
Bailey Jr., D.B.1
Hatton, D.D.2
Mesibov, G.3
Ament, N.4
Skinner, M.5
-
69
-
-
67649218764
-
A review of fragile x premutation disorders: Expanding the psychiatric perspective
-
Bourgeois JA, Coffey SM, Rivera SM et al (2009) A review of fragile X premutation disorders: expanding the psychiatric perspective. J Clin Psychiatry 70(6):852-862
-
(2009)
J Clin Psychiatry
, vol.70
, Issue.6
, pp. 852-862
-
-
Bourgeois, J.A.1
Coffey, S.M.2
Rivera, S.M.3
-
70
-
-
0027383339
-
A study of the physical, behavioral, and medical phenotype, including anthropometric measures, of females with fragile X syndrome
-
Hull C, Hagerman RJ (1993) A study of the physical, behavioural, and medical phenotype, including anthropometric measures of females with fragile X syndrome. Am J Dis Child 147:1236-1241 (Pubitemid 23331965)
-
(1993)
American Journal of Diseases of Children
, vol.147
, Issue.11
, pp. 1236-1241
-
-
Hull, C.1
Hagerman, R.J.2
-
71
-
-
0011726601
-
Neuropsychology
-
In Hagerman RJ, Hagerman PJ (eds) 3rd edn. The Johns Hopkins University Press, Baltimore
-
Bennetto L, Pennington BF (2002) Neuropsychology. In: Hagerman RJ, Hagerman PJ (eds) Fragile X syndrome: diagnosis, treatment and research, 3rd edn. The Johns Hopkins University Press, Baltimore
-
(2002)
Fragile X Syndrome: Diagnosis, Treatment and Research
-
-
Bennetto, L.1
Pennington, B.F.2
-
72
-
-
0032541268
-
Genotype-phenotype relationship in female carriers of the premutation and full mutation of FMR-1
-
DOI 10.1016/S0165-1781(98)00055-9, PII S0165178198000559
-
Franke P, Leboyer M, Gansicke M et al (1998) Genotype-phenotype relationship in female carriers of the premutation and full mutation of FMR-1. Psychiatry Res 80:113-127 (Pubitemid 28414872)
-
(1998)
Psychiatry Research
, vol.80
, Issue.2
, pp. 113-127
-
-
Franke, P.1
Leboyer, M.2
Gansicke, M.3
Weiffenbach, O.4
Biancalana, V.5
Cornillet-Lefebre, P.6
Croquette, M.F.7
Froster, U.8
Schwab, S.G.9
Poustka, F.10
Hautzinger, M.11
Maier, W.12
-
73
-
-
70349612509
-
Penetrance of fmr1 premutation associated pathologies in fragile x syndrome families
-
Rodriguez-Revenga L, Madrigal I, Pagonabarraga J et al (2009) Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families. Eur J Hum Genet 17:1359-1362
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 1359-1362
-
-
Rodriguez-Revenga, L.1
Madrigal, I.2
Pagonabarraga, J.3
-
74
-
-
26944432986
-
Anxiety and depression, attention, and executive functions in hypothyroidism
-
DOI 10.1017/S1355617705050642, PII S1355617705050642
-
Constant EL, Adam S, Seron X et al (2005) Anxiety and depression, attention, and executive functions in hypothyroidism. J Int Neuropsychol Soc 11:535-544 (Pubitemid 41478986)
-
(2005)
Journal of the International Neuropsychological Society
, vol.11
, Issue.5
, pp. 535-544
-
-
Constant, E.L.1
Adam, S.2
Seron, X.3
Bruyer, R.4
Seghers, A.5
Daumerie, C.6
-
75
-
-
7644232157
-
Depression and anxiety in different thyroid function states
-
DOI 10.1055/s-2004-825925
-
Larisch R, Kley K, Nikolaus S et al (2004) Depression and anxiety in different thyroid function states. Horm Metab Res 36:650-653 (Pubitemid 39457644)
-
(2004)
Hormone and Metabolic Research
, vol.36
, Issue.9
, pp. 650-653
-
-
Larisch, R.1
Kley, K.2
Nikolaus, S.3
Sitte, W.4
Franz, M.5
Hautzel, H.6
Tress, W.7
Muller, H.-W.8
-
76
-
-
0035104929
-
Increased serum FSH in female fragile X premutation carriers with either regular menstrual cycles or on oral contraceptives
-
Hundscheid RD, Braat DD, Kiemeney LA et al (2001) Increased serum FSH in female fragile X premutation carriers with either regular menstrual cycles or on oral contraceptives. Human Reprod 16:457-462 (Pubitemid 32218793)
-
(2001)
Human Reproduction
, vol.16
, Issue.3
, pp. 457-462
-
-
Hundscheid, R.D.L.1
Braat, D.D.M.2
Kiemeney, L.A.L.M.3
Smits, A.P.T.4
Thomas, C.M.G.5
-
77
-
-
0033515496
-
Fragile X premutation is a significant risk factor for premature ovarian failure: The international collaborative POF in fragile X study - Preliminary data
-
DOI 10.1002/(SICI)1096-8628(19990402)83:4<322::AID-AJMG17>3.0.CO;2- B
-
Allingham-Hawkins DJ, Brown CA, Babul R et al (1999) Fragile X premutation is a significant risk factor for premature ovarian failure. The international collaborative POF in fragile X study-preliminary data. Am J Med Genet 83:322-325 (Pubitemid 29162637)
-
(1999)
American Journal of Medical Genetics
, vol.83
, Issue.4
, pp. 322-325
-
-
Allingham-Hawkins, D.J.1
Babul-Hirji, R.2
Chitayat, D.3
Holden, J.J.A.4
Yang, K.T.5
Lee, C.6
Hudson, R.7
Gorwill, H.8
Nolin, S.L.9
Glicksman, A.10
Jenkins, E.C.11
Brown, W.T.12
Howard-Peebles, P.N.13
Becchi, C.14
Cummings, E.15
Fallon, L.16
Seitz, S.17
Black, S.H.18
Vianna-Morgante, A.M.19
Costa, S.S.20
Otto, P.A.21
Mingroni-Netto, R.C.22
Murray, A.23
Webb, J.24
MacSwinney, F.25
Dennis, N.26
Jacobs, P.A.27
Syrrou, M.28
Georgiou, I.29
Patsalis, P.C.30
Giovannucci Uzielli, M.L.31
Guarducci, S.32
Lapi, E.33
Cecconi, A.34
Ricci, U.35
Ricotti, G.36
Biondi, C.37
Scarselli, B.38
Vieri, F.39
more..
-
78
-
-
0035838379
-
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
-
Hagerman RJ, Leehey M, Heinrichs W et al (2001) Intention tremor, Parkinsonism and generalized brain atrophy in older male carriers of fragile X. Neurology 57:127-130 (Pubitemid 32634862)
-
(2001)
Neurology
, vol.57
, Issue.1
, pp. 127-130
-
-
Hagerman, R.J.1
Leehey, M.2
Heinrichs, W.3
Tassone, F.4
Wilson, R.5
Hills, J.6
Grigsby, J.7
Gage, B.8
Hagerman, P.J.9
-
79
-
-
0037384643
-
Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates
-
DOI 10.1086/374321
-
Jacquemont S, Hagerman RJ, Leehey M et al (2003) Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet 72:869-878 (Pubitemid 36403306)
-
(2003)
American Journal of Human Genetics
, vol.72
, Issue.4
, pp. 869-878
-
-
Jacquemont, S.1
Hagerman, R.J.2
Leehey, M.3
Grigsby, J.4
Zhang, L.5
Brunberg, J.A.6
Greco, C.7
Des Portes, V.8
Jardini, T.9
Levine, R.10
Berry-Kravis, E.11
Brown, W.T.12
Schaeffer, S.13
Kissel, J.14
Tassone, F.15
Hagerman, P.J.16
-
80
-
-
0037229944
-
The fragile X premutation presenting as essential tremor
-
Leehey MA, Munhoz RP, Lang AE et al (2003) The fragile X premutation presenting as essential tremor. AMA Arch Neurol 60:117-121 (Pubitemid 36078118)
-
(2003)
Archives of Neurology
, vol.60
, Issue.1
, pp. 117-121
-
-
Leehey, M.A.1
Munhoz, R.P.2
Lang, A.E.3
Brunberg, J.A.4
Grigsby, J.5
Greco, C.6
Jacquemont, S.7
Tassone, F.8
Lozano, A.M.9
Hagerman, P.J.10
Hagerman, R.J.11
-
81
-
-
42949147652
-
Expanded clinical phenotype of women with the fmr1 premutation
-
Coffey SM, Cook K, Tartaglia N et al (2008) Expanded clinical phenotype of women with the FMR1 premutation. Am J Med Genet 146A:1009-1016
-
(2008)
Am J Med Genet
, vol.146 A
, pp. 1009-1016
-
-
Coffey, S.M.1
Cook, K.2
Tartaglia, N.3
-
82
-
-
60849092523
-
Lifespan changes in working memory in fragile x premutation males
-
Cornish KM, Kogan CS, Li L et al (2009) Lifespan changes in working memory in fragile X premutation males. Brain Cogn 69:551-558
-
(2009)
Brain Cogn
, vol.69
, pp. 551-558
-
-
Cornish, K.M.1
Kogan, C.S.2
Li, L.3
-
83
-
-
57149143313
-
No evidence for a difference in neuropsychological profile among carriers and non-carriers of the fmr1 premutation in adults under the age of 50
-
Hunter JE, Allen EG, Ann Abramowitz A et al (2008) No evidence for a difference in neuropsychological profile among carriers and non-carriers of the FMR1 premutation in adults under the age of 50. Am J Hum Genet 83:692-702
-
(2008)
Am J Hum Genet
, vol.83
, pp. 692-702
-
-
Hunter, J.E.1
Allen, E.G.2
Ann Abramowitz, A.3
-
86
-
-
0033940157
-
Elevated levels of FMR1 mRNA carrier males: A new mechanism of involvement in the fragile-X syndrome
-
DOI 10.1086/302720
-
Tassone F, Hagerman RJ, Taylor AK, Gane LW, Godfrey TE, Hagerman PJ (2000) Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. Am J Hum Genet 66:6-15 (Pubitemid 30481464)
-
(2000)
American Journal of Human Genetics
, vol.66
, Issue.1
, pp. 6-15
-
-
Tassone, F.1
Hagerman, R.J.2
Taylor, A.K.3
Gane, L.W.4
Godfrey, T.E.5
Hagerman, P.J.6
-
88
-
-
0014517848
-
A marker x chromosome
-
Lubs H (1969) A marker X chromosome. Am J Hum Genet 21:231-244
-
(1969)
Am J Hum Genet
, vol.21
, pp. 231-244
-
-
Lubs, H.1
-
89
-
-
0017381277
-
Fragile sites on human chromosomes: Demonstration of their dependence on the type of tissue culture medium
-
Sutherland GR (1977) Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium. Science 197:265-266 (Pubitemid 8130438)
-
(1977)
Science
, vol.197
, Issue.4300
, pp. 265-266
-
-
Sutherland, G.R.1
-
90
-
-
0029895568
-
Molecular clinical correlations in males with an expanded fmr1 mutation
-
Merenstein SA, Sobesky WE, Taylor AK et al (1996) Molecular clinical correlations in males with an expanded FMR1 mutation. Am J Med Genet 64:388-394
-
(1996)
Am J Med Genet
, vol.64
, pp. 388-394
-
-
Merenstein, S.A.1
Sobesky, W.E.2
Taylor, A.K.3
-
91
-
-
24144501508
-
Cytogenetic abnormalities and fragile-x syndrome in autism spectrum disorder
-
Reddy KS (2005) Cytogenetic abnormalities and fragile-X syndrome in autism spectrum disorder. BMC Med Genet 18:3
-
(2005)
BMC Med Genet
, vol.18
, pp. 3
-
-
Reddy, K.S.1
-
92
-
-
0037320928
-
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles
-
DOI 10.1086/367713
-
Nolin SL, Brown WT, Glicksman A et al (2003) Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet 72:454-464 (Pubitemid 36194253)
-
(2003)
American Journal of Human Genetics
, vol.72
, Issue.2
, pp. 454-464
-
-
Nolin, S.L.1
Brown, W.T.2
Glicksman, A.3
Houck Jr., G.E.4
Gargano, A.D.5
Sullivan, A.6
Biancalana, V.7
Brondum-Nielsen, K.8
Hjalgrim, H.9
Holinski-Feder, E.10
Kooy, F.11
Longshore, J.12
Macpherson, J.13
Mandel, J.-L.14
Matthijs, G.15
Rousseau, F.16
Steinbach, P.17
Vaisanen, M.-L.18
Von Koskull, H.19
Sherman, S.L.20
more..
-
93
-
-
1942467797
-
Molecular insights into mental retardation: Multiple functions for the Fragile X mental retardation protein?
-
Zalfa F, Bagni C (2004) Molecular insights into mental retardation: multiple functions for the fragile X mental retardation protein? Curr Issues Mol Biol 6:73-88 (Pubitemid 38528985)
-
(2004)
Current Issues in Molecular Biology
, vol.6
, Issue.2
, pp. 73-88
-
-
Zalfa, F.1
Bagni, C.2
-
94
-
-
0027300283
-
Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain
-
DOI 10.1038/ng0693-147
-
Abitbol M, Menini C, Delezoide AL et al (1993) Nucleus basalis magnocellularis and hippocampus are the major sites of FMR1 expression in the human fetal brain. Nat Genet 4:147-153 (Pubitemid 23179098)
-
(1993)
Nature Genetics
, vol.4
, Issue.2
, pp. 147-153
-
-
Abitbol, M.1
Menini, C.2
Delezoide, A.-L.3
Rhyner, T.4
Vekemans, M.5
Mallet, J.6
-
95
-
-
0027397928
-
Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome
-
DOI 10.1038/ng0193-36
-
Hinds HL, Ashley CT, Sutcliffe JS et al (1993) Tissue specific expression of FMR1 provides evidence for a functional role in fragile X syndrome. Nat Genet 3:36-43 (Pubitemid 23063286)
-
(1993)
Nature Genetics
, vol.3
, Issue.1
, pp. 36-43
-
-
Hinds, H.L.1
Ashley, C.T.2
Sutcliffe, J.S.3
Nelson, D.L.4
Warren, S.T.5
Housman, D.E.6
Schalling, M.7
-
96
-
-
0028971722
-
The fragile x mental retardation syndrome protein interacts with novel homologs fxr1 and fxr2
-
Zhang Y, O'Connor P, Siomi M et al (1995) The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2. EMBO J 14:5358-5366
-
(1995)
EMBO J
, vol.14
, pp. 5358-5366
-
-
Zhang, Y.1
O'Connor, P.2
Siomi, M.3
-
97
-
-
0029816723
-
The fragile X mental retardation protein is a ribonucleoprotein containing both nuclear localization and nuclear export signals
-
Eberhart DE, Malter HE, Feng Y, Warren ST (1996) The fragile X mental retardation protein is a ribonucleoprotein containing both nuclear localization and nuclear export signals. Hum Mol Genet 5:1083-1091 (Pubitemid 26318545)
-
(1996)
Human Molecular Genetics
, vol.5
, Issue.8
, pp. 1083-1091
-
-
Eberhart, D.E.1
Malter, H.E.2
Feng, Y.3
Warren, S.T.4
-
98
-
-
0032847774
-
Dissecting FMR1, the protein responsible for fragile X syndrome, in its structural and functional domains
-
DOI 10.1017/S1355838299990647
-
Adinolfi S, Bagni C, Musco G et al (1999) Dissecting FMR1, the protein responsible for fragile X syndrome, in its structural and functional domains. RNA 5:1248-1258 (Pubitemid 29422766)
-
(1999)
RNA
, vol.5
, Issue.9
, pp. 1248-1258
-
-
Adinolfi, S.1
Bagni, C.2
Musco, G.3
Gibson, T.4
Mazzarella, L.5
Pastore, A.6
-
99
-
-
0038795996
-
The RNA binding protein FMRP: New connections and missing links
-
DOI 10.1016/S0248-4900(03)00037-6
-
Schaeffer C, Beaulande M, Ehresmann C et al (2003) The RNA binding protein FMRP: new connections and missing links. Biol Cell 95:221-228 (Pubitemid 36889223)
-
(2003)
Biology of the Cell
, vol.95
, Issue.3-4
, pp. 221-228
-
-
Schaeffer, C.1
Beaulande, M.2
Ehresmann, C.3
Ehresmann, B.4
Moine, H.5
-
100
-
-
0033499661
-
Isolation of an FMRP-associated messenger ribonucleoprotein particle and identification of nucleolin and the fragile X-related proteins as components of the complex
-
Ceman S, Brown V, Warren ST (1999) Isolation of an FMRPassociated messenger ribonucleoprotein particle and identification of nucleolin and the fragile X related proteins as components of the complex. Mol Cell Biol 19:7925-7932 (Pubitemid 30413987)
-
(1999)
Molecular and Cellular Biology
, vol.19
, Issue.12
, pp. 7925-7932
-
-
Ceman, S.1
Brown, V.2
Warren, S.T.3
-
101
-
-
0036501460
-
Knockout mouse model for fxr2: A model for mental retardation
-
Carola JM, Mcllwain KL, Nieuwenhuien IM et al (2002) Knockout mouse model for FXR2: a model for mental retardation. Hum Mol Genet 11:487-498
-
(2002)
Hum Mol Genet
, vol.11
, pp. 487-498
-
-
Carola, J.M.1
Mcllwain, K.L.2
Nieuwenhuien, I.M.3
-
102
-
-
15244347192
-
Translational complexity of the fragile X mental retardation protein: Insights from the fly
-
DOI 10.1016/j.molcel.2005.03.004
-
Broadie V, Pan L (2005) Translational complexity of the fragile X mental retardation protein: insights form the fly. Mol Cell 17:757-759 (Pubitemid 40386937)
-
(2005)
Molecular Cell
, vol.17
, Issue.6
, pp. 757-759
-
-
Broadie, K.1
Pan, L.2
-
103
-
-
62149089881
-
Minocycline promotes dendritic spine maturation and improves behavioural performance in the fragile x mouse model
-
Bilousova TV, Dansie L, Ngo M et al (2009) Minocycline promotes dendritic spine maturation and improves behavioural performance in the fragile X mouse model. J Med Genet 46:94-102
-
(2009)
J Med Genet
, vol.46
, pp. 94-102
-
-
Bilousova, T.V.1
Dansie, L.2
Ngo, M.3
-
104
-
-
33744966575
-
Local functions for FMRP in axon growth cone motility and activity-dependent regulation of filopodia and spine synapses
-
DOI 10.1016/j.mcn.2006.02.001, PII S1044743106000443
-
Antar LN, Li C, Zhang H, Carroll RC, Bassell GC (2006) Local functions for FMRP in axon growth cone motility and activitydependent regulation of filopodia and spine synapses. Mol Cell Neurosci 32:37-48 (Pubitemid 43868095)
-
(2006)
Molecular and Cellular Neuroscience
, vol.32
, Issue.1-2
, pp. 37-48
-
-
Antar, L.N.1
Li, C.2
Zhang, H.3
Carroll, R.C.4
Bassell, G.J.5
-
105
-
-
30744433092
-
A receptor subunit δ in the fragile X knockout mouse model
-
DOI 10.1016/j.nbd.2005.07.017, PII S0969996105002135
-
Gantois I, Vandesompele J, Speleman F et al (2006) Expression profiling reveals underexpression of the GABAA receptor subunit delta in the fragile X knockout mice model. Neurobiol Dis 21:346-357 (Pubitemid 43099858)
-
(2006)
Neurobiology of Disease
, vol.21
, Issue.2
, pp. 346-357
-
-
Gantois, I.1
Vandesompele, J.2
Speleman, F.3
Reyniers, E.4
D'Hooge, R.5
Severijnen, L.-A.6
Willemsen, R.7
Tassone, F.8
Kooy, R.F.9
-
106
-
-
13044251823
-
Attenuated sensitivity to neuroactive steroids in γ-aminobutyrate type A receptor delta subunit knockout mice
-
DOI 10.1073/pnas.96.22.12905
-
Mihalek RM, Banerjee PK, Korpi ER et al (1999) Attenuated sensitivity to neuroactive steroids in c-aminobutyrate type A receptor delta subunit knockout mice. Proc Natl Acad Sci USA 96:12905-12910 (Pubitemid 29513601)
-
(1999)
Proceedings of the National Academy of Sciences of the United States of America
, vol.96
, Issue.22
, pp. 12905-12910
-
-
Mihalek, R.M.1
Banerjee, P.K.2
Korpi, E.R.3
Quinlan, J.J.4
Firestone, L.L.5
Mi, Z.-P.6
Lagenaur, C.7
Tretter, V.8
Sieghart, W.9
Anagnostaras, S.G.10
Sage, J.R.11
Fanselow, M.S.12
Guidotti, A.13
Spigelman, I.14
Li, Z.15
DeLorey, T.M.16
Olsen, R.W.17
Homanics, G.E.18
-
107
-
-
33750726094
-
A receptor in fragile X syndrome
-
DOI 10.1016/j.brainres.2006.08.115, PII S0006899306026564
-
D'Hulst C, De Geest N, Reeve SP et al (2006) Decreased expression of the GABAA receptor in fragile X syndrome. Brain Res 1121:238-245 (Pubitemid 44708899)
-
(2006)
Brain Research
, vol.1121
, Issue.1
, pp. 238-245
-
-
D'Hulst, C.1
De Geest, N.2
Reeve, S.P.3
Van Dam, D.4
De Deyn, P.P.5
Hassan, B.A.6
Kooy, R.F.7
-
108
-
-
58249135425
-
Decreased expression of the gabaa receptor in fragile x syndrome
-
D'Hulst C, De Geestb N, Reeveb S et al (2009) Decreased expression of the GABAA receptor in fragile X syndrome. Brain Res 1253:176-183
-
(2009)
Brain Res
, vol.1253
, pp. 176-183
-
-
D'Hulst, C.1
De Geestb, N.2
Reeveb, S.3
-
109
-
-
0034685813
-
Role for rapid dendritic protein synthesis in hippocampal mglur-dependent long-term depression
-
Huber KM, Kayser MS, Bear MF (2000) Role for rapid dendritic protein synthesis in hippocampal mGluR-dependent long-term depression. Science 288:1254-1257
-
(2000)
Science
, vol.288
, pp. 1254-1257
-
-
Huber, K.M.1
Kayser, M.S.2
Bear, M.F.3
-
110
-
-
0034942216
-
Chemical induction of mGluR5- and protein synthesis-dependent long-term depression in hippocampal area CA1
-
Huber KM, Roder JC, Bear MF (2001) Chemical induction of mGluR5-and protein synthesis-dependent long-term depression in hippocampal area CA1. J Neurophysiol 86:321-325 (Pubitemid 32623237)
-
(2001)
Journal of Neurophysiology
, vol.86
, Issue.1
, pp. 321-325
-
-
Huber, K.M.1
Roder, J.C.2
Bear, M.F.3
-
111
-
-
0035912771
-
Synaptic regulation of protein synthesis and the fragile X protein
-
DOI 10.1073/pnas.141145998
-
Greenough WT, Klintsova AY, Irwin SA et al (2001) Synaptic regulation of protein synthesis and the fragile X protein. Proc Natl Acad Sci USA 98:7101-7106 (Pubitemid 32567909)
-
(2001)
Proceedings of the National Academy of Sciences of the United States of America
, vol.98
, Issue.13
, pp. 7101-7106
-
-
Greenough, W.T.1
Klintsova, A.Y.2
Irwin, S.A.3
Galvez, R.4
Bates, K.E.5
Weiler, I.J.6
-
112
-
-
0345528532
-
Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation
-
DOI 10.1073/pnas.94.10.5395
-
Weiler IJ, Irwin SA, Klintsova AY et al (1997) Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation. Proc Natl Acad Sci USA 94:5395-5400 (Pubitemid 27214794)
-
(1997)
Proceedings of the National Academy of Sciences of the United States of America
, vol.94
, Issue.10
, pp. 5395-5400
-
-
Weiler, I.J.1
Irwin, S.A.2
Klintsova, A.Y.3
Spencer, C.M.4
Brazelton, A.D.5
Miyashiro, K.6
Comery, T.A.7
Patel, B.8
Eberwine, J.9
Greenough, W.T.10
-
113
-
-
33746196574
-
Local protein synthesis and spine morphogenesis: Fragile x syndrome and beyond
-
Grossman AW, Aldridge GM, Weiler IJ, Greenough WT (2006) Local protein synthesis and spine morphogenesis: fragile X syndrome and beyond. J Neurosci 26:7151-7155
-
(2006)
J Neurosci
, vol.26
, pp. 7151-7155
-
-
Grossman, A.W.1
Aldridge, G.M.2
Weiler, I.J.3
Greenough, W.T.4
-
114
-
-
13844316424
-
The fragile X mental retardation protein and group I metabotropic glutamate receptors regulate levels of mRNA granules in brain
-
DOI 10.1073/pnas.0409803102
-
Aschrafi A, Cunningham BA, Edelman GM, Vanderklish PW (2005) The fragile X mental retardation protein and group I metabotropic glutamate receptors regulate levels of mRNA granules in brain. Proc Natl Acad Sci USA 102:2180-2185 (Pubitemid 40262032)
-
(2005)
Proceedings of the National Academy of Sciences of the United States of America
, vol.102
, Issue.6
, pp. 2180-2185
-
-
Aschrafi, A.1
Cunningham, B.A.2
Edelman, G.M.3
Vanderklish, P.W.4
-
115
-
-
36549017140
-
Fragile X: Translation in action
-
DOI 10.1038/sj.npp.1301610, PII 1301610
-
Bear MF, Dolen G, Osterweil E, Nagarajan N (2008) Fragile X: translation in action. Neuropsychopharmacology 33:84-87 (Pubitemid 350191335)
-
(2008)
Neuropsychopharmacology
, vol.33
, Issue.1
, pp. 84-87
-
-
Bear, M.F.1
Dolen, G.2
Osterweil, E.3
Nagarajan, N.4
-
116
-
-
3042647610
-
The mGluR theory of fragile X mental retardation
-
DOI 10.1016/j.tins.2004.04.009, PII S0166223604001328
-
Bear MF, Huber KM, Warren ST (2004) The mGluR theory of fragile X mental retardation. Trends Neurosci 27:370-377 (Pubitemid 38829251)
-
(2004)
Trends in Neurosciences
, vol.27
, Issue.7
, pp. 370-377
-
-
Bear, M.F.1
Huber, K.M.2
Warren, S.T.3
-
117
-
-
76749128438
-
Repetitive self-grooming behavior in the btbr mouse model of autism is blocked by the mglur5 antagonist mpep
-
Silverman JL, Tolu S, Barkan C, Crawley J (2010) Repetitive self-grooming behavior in the BTBR mouse model of autism is blocked by the mGluR5 antagonist MPEP. Neuropsychopharmacology 35:976-989
-
(2010)
Neuropsychopharmacology
, vol.35
, pp. 976-989
-
-
Silverman, J.L.1
Tolu, S.2
Barkan, C.3
Crawley, J.4
-
118
-
-
78650937072
-
Epigenetic modification of the fmr1 gene in fragile x syndrome is associated with differential response to the mglur5 antagonist afq056
-
Jacquemont S, Curie A, des Portes V et al (2011) Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056. Sci Transl Med 3(64):64ra1
-
(2011)
Sci Transl Med
, vol.3
, Issue.64
-
-
Jacquemont, S.1
Curie, A.2
Des Portes, V.3
-
119
-
-
0018877483
-
Phase II double-blind controlled study of a new anxiolytic, fenobam (McN-3377) vs placebo
-
Friedmann C, Davis L, Ciccone P, Rubin R (1980) Phase II double-blind controlled study of a new anxiolytic, fenobam (McN-3377) vs placebo. Curr Ther Res 27:144-151 (Pubitemid 10149548)
-
(1980)
Current Therapeutic Research - Clinical and Experimental
, vol.27
, Issue.2
, pp. 144-151
-
-
Friedmann, C.T.H.1
Davis, L.J.2
Ciccone, P.E.3
Rubin, R.T.4
-
120
-
-
0019957859
-
Treatment of anxiety using fenobam (a nonbenzodiazepine) in a double-blind standard (diazepam) placebo-controlled study
-
Pecknold JC, McClure DJ, Appeltauer L, Wrzesinski L, Allan T (1982) Treatment of anxiety using fenobam (a nonbenzodiazepine) in a double-blind standard (diazepam) placebo-controlled study. J Clin Psychopharmacol 2:129-133 (Pubitemid 12025672)
-
(1982)
Journal of Clinical Psychopharmacology
, vol.2
, Issue.2
, pp. 129-133
-
-
Pecknold, J.C.1
McClure, D.J.2
Appeltauer, L.3
-
121
-
-
65949096495
-
A pilot open label, single dose trial of fenobam in adults with fragile x syndrome
-
Berry-Kravis E, Hessl D, Coffey S et al (2009) A pilot open label, single dose trial of fenobam in adults with fragile X syndrome. J Med Genet 46:266-271
-
(2009)
J Med Genet
, vol.46
, pp. 266-271
-
-
Berry-Kravis, E.1
Hessl, D.2
Coffey, S.3
-
122
-
-
77957678816
-
Open-label add-on treatment trial of minocycline in fragile x syndrome
-
Paribello C, Tao L, Folino A et al (2010) Open-label add-on treatment trial of minocycline in fragile X syndrome. BMC Neurol 10:91
-
(2010)
BMC Neurol
, vol.10
, pp. 91
-
-
Paribello, C.1
Tao, L.2
Folino, A.3
-
123
-
-
77958192422
-
Side effects of minocycline treatment in patients with fragile x syndrome and exploration of outcome measures
-
Utari A, Chonchaiya W, Rivera SM et al (2010) Side effects of minocycline treatment in patients with fragile X syndrome and exploration of outcome measures. Am J Intellect Dev Disabil 115:433-443
-
(2010)
Am J Intellect Dev Disabil
, vol.115
, pp. 433-443
-
-
Utari, A.1
Chonchaiya, W.2
Rivera, S.M.3
-
124
-
-
0037158482
-
Dendritic spine and dendritic field characteristics of layer V pyramidal neurons in the visual cortex of fragile-X knockout mice
-
DOI 10.1002/ajmg.10500
-
Irwin SA, Idupulapati M, Gilbert ME et al (2002) Dendritic spine and dendritic field characteristics of layer V pyramidal neurons in the visual cortex of fragile-X knockout mice. Am J Med Genet 111:140-146 (Pubitemid 34809494)
-
(2002)
American Journal of Medical Genetics
, vol.111
, Issue.2
, pp. 140-146
-
-
Irwin, S.A.1
Idupulapati, M.2
Gilbert, M.E.3
Harris, J.B.4
Chakravarti, A.B.5
Rogers, E.J.6
Crisostomo, R.A.7
Larsen, B.P.8
Mehta, A.9
Alcantara, C.J.10
Patel, B.11
Swain, R.A.12
Weiler, I.J.13
Oostra, B.A.14
Greenough, W.T.15
-
125
-
-
0035863624
-
Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: A quantitative examination
-
DOI 10.1002/1096-8628(20010115)98:2<161::AID-AJMG1025>3.0.CO;2-B
-
Irwin SA, Patel B, Idupulapati M et al (2001) Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: a quantitative examination. Am J Med Genet 98:161-167 (Pubitemid 32051804)
-
(2001)
American Journal of Medical Genetics
, vol.98
, Issue.2
, pp. 161-167
-
-
Irwin, S.A.1
Patel, B.2
Idupulapati, M.3
Harris, J.B.4
Crisostomo, R.A.5
Larsen, B.P.6
Kooy, F.7
Willems, P.J.8
Cras, P.9
Kozlowski, P.B.10
Swain, R.A.11
Weiler, I.J.12
Greenough, W.T.13
-
127
-
-
0033797832
-
Dendritic spine structural anomalies in fragile-x mental retardation syndrome
-
Irwin SA, Galvez R, Greenough WT
-
Irwin SA, Galvez R, Greenough WT (2000) Dendritic spine structural anomalies in fragile-X mental retardation syndrome. Cereb Cortex 10:1038-1044
-
(2000)
Cereb Cortex
, vol.10
, pp. 1038-1044
-
-
-
128
-
-
33845232989
-
Neuroanatomical, molecular genetic, and behavioral correlates of fragile X syndrome
-
DOI 10.1016/j.brainresrev.2006.06.001, PII S0165017306000828
-
Koukoui SD, Chaudhuri A (2007) Neuroanatomical, molecular, genetic, and behavioural correlates of fragile X syndrome. Brain Res Rev 53:27-38 (Pubitemid 44854210)
-
(2007)
Brain Research Reviews
, vol.53
, Issue.1
, pp. 27-38
-
-
Koukoui, S.D.1
Chaudhuri, A.2
-
129
-
-
33947537457
-
Fragile X mental retardation protein induces synapse loss through acute postsynaptic translational regulation
-
DOI 10.1523/JNEUROSCI.0054-07.2007
-
Pfeiffer BE, Huber KM (2007) Fragile X mental retardation protein induces synapse loss through acute postsynaptic translational regulation. J Neurosci 27:3120-3130 (Pubitemid 46474113)
-
(2007)
Journal of Neuroscience
, vol.27
, Issue.12
, pp. 3120-3130
-
-
Pfeiffer, B.E.1
Huber, K.M.2
-
130
-
-
77952394997
-
Fragile x mental retardation protein is required for synapse elimination by the activity-dependent transcription factor mef2
-
Pfeiffer BE, Zang T, Wilkerson JR et al (2010) Fragile X mental retardation protein is required for synapse elimination by the activity-dependent transcription factor MEF2. Neuron 66:191-197
-
(2010)
Neuron
, vol.66
, pp. 191-197
-
-
Pfeiffer, B.E.1
Zang, T.2
Wilkerson, J.R.3
-
131
-
-
30344473617
-
Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS)
-
DOI 10.1093/brain/awh683
-
Greco CM, Berman RF, Martin RM et al (2006) Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). Brain 129:243-255 (Pubitemid 43063775)
-
(2006)
Brain
, vol.129
, Issue.1
, pp. 243-255
-
-
Greco, C.M.1
Berman, R.F.2
Martin, R.M.3
Tassone, F.4
Schwartz, P.H.5
Chang, A.6
Trapp, B.D.7
Iwahashi, C.8
Brunberg, J.9
Grigsby, J.10
Hessl, D.11
Becker, E.J.12
Papazian, J.13
Leehey, M.A.14
Hagerman, R.J.15
Hagerman, P.J.16
-
132
-
-
23944431645
-
Fmr1 rna within the intranuclear inclusions of fragile x associated tremor/ataxia syndrome
-
Tassone F, Iwahahi C, Hagerman PJ (2004) FMR1 RNA within the intranuclear inclusions of Fragile X associated tremor/ataxia syndrome. RNA Biol 1:103-105
-
(2004)
RNA Biol
, vol.1
, pp. 103-105
-
-
Tassone, F.1
Iwahahi, C.2
Hagerman, P.J.3
-
133
-
-
0036345801
-
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile x carriers
-
Greco C, Hagerman RJ, Tassone F et al (2002) Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain 125:1760-1771
-
(2002)
Brain
, vol.125
, pp. 1760-1771
-
-
Greco, C.1
Hagerman, R.J.2
Tassone, F.3
-
134
-
-
0028898302
-
Neurodevelopmental effects of the fmr1 full mutation in humans
-
Reiss AL, Abrams MT, Greenlaw R, Freund L, Denckla MB (1995) Neurodevelopmental effects of the FMR1 full mutation in humans. Nat Med 1:159-167
-
(1995)
Nat Med
, vol.1
, pp. 159-167
-
-
Reiss, A.L.1
Abrams, M.T.2
Greenlaw, R.3
Freund, L.4
Denckla, M.B.5
-
135
-
-
0034896495
-
Brain anatomy, gender and iq in children and adolescents with fragile x syndrome
-
Eliez S, Blasey CM, Freund LS et al (2001) Brain anatomy, gender and IQ in children and adolescents with fragile X syndrome. Brain 124:168-1610
-
(2001)
Brain
, vol.124
, pp. 168-1610
-
-
Eliez, S.1
Blasey, C.M.2
Freund, L.S.3
-
136
-
-
39049094764
-
Neuroanatomy of fragile X syndrome is associated with aberrant behavior and the fragile X mental retardation protein (FMRP)
-
DOI 10.1002/ana.21243
-
Gothelf D, Furfaro JA, Hoeft F et al (2008) Neuroanatomy of fragile X syndrome is associated with aberrant behaviour and the fragile X mental retardation protein (FMR1 PROTEIN). Ann Neurol 63:40-51 (Pubitemid 351240550)
-
(2008)
Annals of Neurology
, vol.63
, Issue.1
, pp. 40-51
-
-
Gothelf, D.1
Furfaro, J.A.2
Hoeft, F.3
Eckert, M.A.4
Hall, S.S.5
O'Hara, R.6
Erba, H.W.7
Ringel, J.8
Hayashi, K.M.9
Patnaik, S.10
Golianu, B.11
Kraemer, H.C.12
Thompson, P.M.13
Piven, J.14
Reiss, A.L.15
-
137
-
-
50949100442
-
Morpohometric spatial patterns differentiating boys with fragile x syndrome, typically developing boys, developmentally delayed boys aged 1 to 3 years
-
Hoeft F, Lightbody AA, Hazlett HC et al (2008) Morpohometric spatial patterns differentiating boys with fragile X syndrome, typically developing boys, developmentally delayed boys aged 1 to 3 years. Arch Gen Psychiatry 65:1087-1097
-
(2008)
Arch Gen Psychiatry
, vol.65
, pp. 1087-1097
-
-
Hoeft, F.1
Lightbody, A.A.2
Hazlett, H.C.3
-
138
-
-
73849144314
-
Teasing apart the heterogeneity of autism: Same behaviour, different brains in toddlers with fragile x syndrome and autism
-
Hazlett HC, Poe MD, Lightbody AA et al (2009) Teasing apart the heterogeneity of autism: same behaviour, different brains in toddlers with fragile X syndrome and autism. J Neurodev Disord 1:181-190
-
(2009)
J Neurodev Disord
, vol.1
, pp. 181-190
-
-
Hazlett, H.C.1
Poe, M.D.2
Lightbody, A.A.3
-
139
-
-
77957967785
-
In vivo brain anatomy of adult males with fragile x syndrome: An mri study
-
Hallahan B, Craig M, Toal F et al (2010) In vivo brain anatomy of adult males with fragile X syndrome: an MRI study. Neuroimage 54:16-24
-
(2010)
Neuroimage
, vol.54
, pp. 16-24
-
-
Hallahan, B.1
Craig, M.2
Toal, F.3
-
140
-
-
71749109795
-
A voxelbased morphometry comparison of regional gray matter between fragile x syndrome and autism
-
Wilson LB, Tregellas JR, Hagerman RJ et al (2009) A voxelbased morphometry comparison of regional gray matter between fragile X syndrome and autism. Psychiatry Res 174:138-145
-
(2009)
Psychiatry Res
, vol.174
, pp. 138-145
-
-
Wilson, L.B.1
Tregellas, J.R.2
Hagerman, R.J.3
-
141
-
-
0031882461
-
Decreased cerebellar posterior vermis size in fragile xsyndrome: Correlation with neurocognitive performance
-
Mostofsky SH, Mazzocco MM, Aakalu G et al (1998) Decreased cerebellar posterior vermis size in fragile Xsyndrome: correlation with neurocognitive performance. Neurology 51:121-130
-
(1998)
Neurology
, vol.51
, pp. 121-130
-
-
Mostofsky, S.H.1
Mazzocco, M.M.2
Aakalu, G.3
-
142
-
-
0025969057
-
Neuroanatomy of fragile x syndrome: The posterior fossa
-
Reiss AL, Aylward E, Freund LS et al (1991) Neuroanatomy of fragile X syndrome: the posterior fossa. Ann Neurol 29:26-32
-
(1991)
Ann Neurol
, vol.29
, pp. 26-32
-
-
Reiss, A.L.1
Aylward, E.2
Freund, L.S.3
-
143
-
-
0028898302
-
Neurodevelopmental effects of the fmr-1 full mutation in humans
-
Reiss AL, Abrams MT, Greenlaw R et al (1995) Neurodevelopmental effects of the FMR-1 full mutation in humans. Nat Med 1:159-167
-
(1995)
Nat Med
, vol.1
, pp. 159-167
-
-
Reiss, A.L.1
Abrams, M.T.2
Greenlaw, R.3
-
144
-
-
0032012318
-
Fragile X syndrome: Clinical, electroencephalographic and neuroimaging characteristics
-
Guerreiro MM, Camargo EE, Kato M et al (1998) Fragile X syndrome, Clinical, electroencephalographic and neuroimaging characteristics. Aq Neuropsiquiatr 56:18-23 (Pubitemid 128515335)
-
(1998)
Arquivos de Neuro-Psiquiatria
, vol.56
, Issue.1
, pp. 18-23
-
-
Guerreiro, M.M.1
Camargo, E.E.2
Kato, M.3
Marques-De-Faria, A.P.4
Ciasca, S.M.5
Guerreiro, C.A.M.6
Menezes Netto, J.R.7
Moura-Ribeiro, M.V.L.8
-
145
-
-
0028070159
-
Neuroanatomy of fragile X syndrome: The temporal lobe
-
Reiss AL, Lee J, Freund L (1994) Neuroanatomy of fragile X syndrome: the temporal lobe. Neurology 44:1317-1324 (Pubitemid 24232237)
-
(1994)
Neurology
, vol.44
, Issue.7
, pp. 1317-1324
-
-
Reiss, A.L.1
Lee, J.2
Freund, L.3
-
146
-
-
77957952275
-
Reliability and validity of mri measurement of the amygdala and hippocampus in children with fragile x syndrome
-
Kates WR, Abrams MT, Kaufmann WE, Breiter SN, Reiss AL (1997) Reliability and validity of MRI measurement of the amygdala and hippocampus in children with fragile X syndrome. Psychiatry Res 76:15-27
-
(1997)
Psychiatry Res
, vol.76
, pp. 15-27
-
-
Kates, W.R.1
Abrams, M.T.2
Kaufmann, W.E.3
Breiter, S.N.4
Reiss, A.L.5
-
147
-
-
1842407859
-
Fragile-X: Neuropsychological test performance, CGG triplet repeat lengths, and hippocampal volumes
-
Jäkälä P, Hänninen T, Ryynänen M et al (1997) Fragile-X: neuropsychological test performance, CGG triplet repeat lengths, and hippocampal volumes. J Clin Invest 100:331-338 (Pubitemid 27349079)
-
(1997)
Journal of Clinical Investigation
, vol.100
, Issue.2
, pp. 331-338
-
-
Jakala, P.1
Hanninen, T.2
Ryynanen, M.3
Laakso, M.4
Partanen, K.5
Mannermaa, A.6
Soininen, H.7
-
148
-
-
0035141047
-
Differential impact of the FMR-1 full mutation on memory and attention functioning: A neuropsychological perspective
-
DOI 10.1162/089892901564126
-
Cornish KM, Munira F, Cross G (2001) Differential impact of the FMR1 full mutation on memory and attention functioning: a neuropsychological perspective. J Cogn Neurosci 13:144-150 (Pubitemid 32121501)
-
(2001)
Journal of Cognitive Neuroscience
, vol.13
, Issue.1
, pp. 144-150
-
-
Cornish, K.M.1
Munir, F.2
Cross, G.3
-
149
-
-
34249804167
-
Fronto-striatal dysfunction and potential compensatory mechanisms in male adolescents with fragile X syndrome
-
DOI 10.1002/hbm.20406
-
Hoeft F, Hernandez A, Sudharshan P et al (2007) Fronto-striatal dysfunction and potential compensatory mechanisms in male adolescents with fragile X syndrome. Hum Brain Map 28:543-554 (Pubitemid 46849370)
-
(2007)
Human Brain Mapping
, vol.28
, Issue.6
, pp. 543-554
-
-
Hoeft, F.1
Hernandez, A.2
Parthasarathy, S.3
Watson, C.L.4
Hall, S.S.5
Reiss, A.L.6
-
150
-
-
0030995187
-
Attentional activation of the cerebellum independent of motor involvement
-
DOI 10.1126/science.275.5308.1940
-
Allen G, Buxton R, Wong EC, Courchesne E (1997) Attentional activation of the cerebellum independent of motor involvement. Science 275:1940-1943 (Pubitemid 27148817)
-
(1997)
Science
, vol.275
, Issue.5308
, pp. 1940-1943
-
-
Allen, G.1
Buxton, R.B.2
Wong, E.C.3
Courchesne, E.4
-
151
-
-
0033168294
-
Spatial attention deficits in patients with acquired or developmental cerebellar abnormality
-
Townsend J, Courchesne E, Covington J et al (1999) Spatial attention deficits in patients with acquired or developmental cerebellar abnormality. J Neurosci 19:5632-5643 (Pubitemid 29300225)
-
(1999)
Journal of Neuroscience
, vol.19
, Issue.13
, pp. 5632-5643
-
-
Townsend, J.1
Courchesne, E.2
Covington, J.3
Westerfield, M.4
Harris, N.S.5
Lyden, P.6
Lowry, T.P.7
Press, G.A.8
-
152
-
-
19944389574
-
Persistent cognitive dysfunction secondary to cerebellar injury in patients treated for posterior fossa tumors in childhood
-
DOI 10.1159/000084860
-
Ronning C, Sundet K, Due-Tonnessen B et al (2005) Persistent cognitive dysfunction secondary to cerebellar injury in patients treated for posterior fossa tumors in childhood. Pediatr Neurosurg 41:15-21 (Pubitemid 40754706)
-
(2005)
Pediatric Neurosurgery
, vol.41
, Issue.1
, pp. 15-21
-
-
Ronning, C.1
Sundet, K.2
Due-Tonnessen, B.3
Lundar, T.4
Helseth, E.5
-
153
-
-
0036846189
-
Fragile X premutation carriers: Characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction
-
Brunberg JA, Jacquemont S, Hagerman RJ et al (2002) Fragile X permutation carriers: characteristic MR imaging findings in adult males with progressive cerebellar and cognitive dysfunction. Am J Neuroradiol 23:1757-1766 (Pubitemid 35304116)
-
(2002)
American Journal of Neuroradiology
, vol.23
, Issue.10
, pp. 1757-1766
-
-
Brunberg, J.A.1
Jacquemont, S.2
Hagerman, R.J.3
Berry-Kravis, E.M.4
Grigsby, J.5
Leehey, M.A.6
Tassone, F.7
Ted Brown, W.8
Greco, C.M.9
Hagerman, P.J.10
-
154
-
-
23244441878
-
Magnetic resonance imaging study in older fragile X premutation male carriers
-
DOI 10.1002/ana.20542
-
Loesch DZ, Litewka L, Brotchie P et al (2005) Magnetic resonance imaging study in older fragile X premutation male carriers. Ann Neurol 58:326-330 (Pubitemid 41098892)
-
(2005)
Annals of Neurology
, vol.58
, Issue.2
, pp. 326-330
-
-
Loesch, D.Z.1
Litewka, L.2
Brotchie, P.3
Huggins, R.M.4
Tassone, F.5
Cook, M.6
-
155
-
-
33750335320
-
Molecular and imaging correlates of the fragile X-associated tremor/ataxia syndrome
-
DOI 10.1212/01.wnl.0000239837.57475.3a, PII 0000611420061024000023
-
Cohen S, Masyn K, Adams J et al (2006) Molecular and imaging correlates of the fragile X-associated tremor/ataxia syndrome. Neurology 67:1426-1431 (Pubitemid 44632067)
-
(2006)
Neurology
, vol.67
, Issue.8
, pp. 1426-1431
-
-
Cohen, S.1
Masyn, K.2
Adams, J.3
Hessl, D.4
Rivera, S.5
Tassone, F.6
Brunberg, J.7
DeCarli, C.8
Zhang, L.9
Cogswell, J.10
Loesch, D.11
Leehey, M.12
Grigsby, J.13
Hagerman, P.J.14
Hagerman, R.15
-
156
-
-
34548209247
-
Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS)
-
DOI 10.1212/01.wnl.0000269781.10417.7b, PII 0000611420070828000007
-
Adams JS, Adams PE, Nguyen D et al (2007) Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS). Neurology 69:851-859 (Pubitemid 47329584)
-
(2007)
Neurology
, vol.69
, Issue.9
, pp. 851-859
-
-
Adams, J.S.1
Adams, P.E.2
Nguyen, D.3
Brunberg, J.A.4
Tassone, F.5
Zhang, W.6
Koldewyn, K.7
Rivera, S.M.8
Grigsby, J.9
Zhang, L.10
DeCarli, C.11
Hagerman, P.J.12
Hagerman, R.J.13
-
157
-
-
67649151875
-
Reduced hippocampal activation during recall is associated with elevated fmr1 mrna and psychiatric symptoms in men with the fragile x premutation
-
Koldewyn K, Hessl D, Adams J et al (2008) Reduced hippocampal activation during recall is associated with elevated FMR1 mRNA and psychiatric symptoms in men with the fragile X premutation. Brain Imaging Behav 2:105-116
-
(2008)
Brain Imaging Behav
, vol.2
, pp. 105-116
-
-
Koldewyn, K.1
Hessl, D.2
Adams, J.3
-
158
-
-
33846648486
-
Amygdala dysfunction in men with the fragile X premutation
-
DOI 10.1093/brain/awl338
-
Hessl D, Rivera S, Koldewyn K et al (2007) Amygdala dysfunction in men with the fragile X premutation. Brain 130:404-416 (Pubitemid 46181094)
-
(2007)
Brain
, vol.130
, Issue.2
, pp. 404-416
-
-
Hessl, D.1
Rivera, S.2
Koldewyn, K.3
Cordeiro, L.4
Adams, J.5
Tassone, F.6
Hagerman, P.J.7
Hagerman, R.J.8
-
159
-
-
77949854405
-
Psychological symptoms correlate with reduced hippocampal volume in fragile x premutation carriers
-
Adams PE, Adams JS, Nguyen DV et al (2010) Psychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriers. Am J Med Genet Part B 153B:775-785
-
(2010)
Am J Med Genet Part B
, vol.153 B
, pp. 775-785
-
-
Adams, P.E.1
Adams, J.S.2
Nguyen, D.V.3
-
160
-
-
0026339303
-
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
-
Oberle I, Rousseau F, Heitz D et al (1991) Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252:1097-1102 (Pubitemid 21917021)
-
(1991)
Science
, vol.252
, Issue.5009
, pp. 1097-1102
-
-
Oberle, I.1
Rousseau, F.2
Heitz, D.3
Kretz, C.4
Devys, D.5
Hanauer, A.6
Boue, J.7
Bertheas, M.F.8
Mandel, J.L.9
-
161
-
-
85046113287
-
Prenatal diagnosis of fragile x syndrome
-
Willemsen R, Oosterwijk JC, Los FJ et al (1996) Prenatal diagnosis of fragile X syndrome. Lancet 348:967-968
-
(1996)
Lancet
, vol.348
, pp. 967-968
-
-
Willemsen, R.1
Oosterwijk, J.C.2
Los, F.J.3
-
162
-
-
69249084981
-
A quantitative elisa assay for the fragile x mental retardation 1 protein
-
Iwahashi C, Tassone F, Hagerman RJ et al (2009) A quantitative ELISA assay for the fragile X mental retardation 1 protein. J Mol Diagn 11:281-289
-
(2009)
J Mol Diagn
, vol.11
, pp. 281-289
-
-
Iwahashi, C.1
Tassone, F.2
Hagerman, R.J.3
-
163
-
-
23244439758
-
Genetic counseling for fragile X syndrome: Updated recommendations of the National Society of Genetic Counselors
-
DOI 10.1007/s10897-005-4802-x
-
McConkie-Rosell A, Finucane B, Cronister A, Abrams L, Bennett RL, Pettersen BJ (2005) Genetic counselling for fragile X syndrome: updated recommendations of the NSGC. J Genet Couns 14:249-270 (Pubitemid 41095420)
-
(2005)
Journal of Genetic Counseling
, vol.14
, Issue.4
, pp. 249-270
-
-
McConkie-Rosell, A.1
Finucane, B.2
Cronister, A.3
Abrams, L.4
Bennett, R.L.5
Pettersen, B.J.6
-
164
-
-
85120218642
-
Syndrome: Diagnostic and carrier testing (policy statement)
-
Fragile X (1994) syndrome: diagnostic and carrier testing (policy statement). Am J Med Genet 53:380-381
-
(1994)
Am J Med Genet
, vol.53
, pp. 380-381
-
-
Fragile, X.1
-
165
-
-
33750986764
-
Symptomatic treatment in the fragile X-associated tremor/ataxia syndrome
-
DOI 10.1002/mds.21001
-
Hall DA, Berry-Kravis E, Hagerman RJ et al (2006) Symptomatic treatment in the fragile X associated tremor/ataxia syndrome. Mov Disord 21:1741-1744 (Pubitemid 44742210)
-
(2006)
Movement Disorders
, vol.21
, Issue.10
, pp. 1741-1744
-
-
Hall, D.A.1
Berry-Kravis, E.2
Hagerman, R.J.3
Hagerman, P.J.4
Rice, C.D.5
Leehey, M.A.6
-
167
-
-
0032748826
-
Double-blind placebo controlled study of l-acetylcarnitine for the treatment of hyperactive behaviour in fragile x syndrome
-
Torroi MG, Vernacotola S, Mariotti P et al (1999) Double-blind placebo controlled study of L-acetylcarnitine for the treatment of hyperactive behaviour in fragile x syndrome. Am J Med Genet 87:366-368
-
(1999)
Am J Med Genet
, vol.87
, pp. 366-368
-
-
Torroi, M.G.1
Vernacotola, S.2
Mariotti, P.3
-
168
-
-
24344457816
-
Suppression of two major Fragile X Syndrome mouse model phenotypes by the mGluR5 antagonist MPEP
-
DOI 10.1016/j.neuropharm.2005.06.004, PII S0028390805002170
-
Yan QJ, Rammal M, Tranfaglia M, Bauchwitz RP (2005) Suppression of two major fragile X syndrome mouse model phenotypes by the mGluR5 antagonist MPEP. Neuropharmacology 49:1053-1066 (Pubitemid 41503304)
-
(2005)
Neuropharmacology
, vol.49
, Issue.7
, pp. 1053-1066
-
-
Yan, Q.J.1
Rammal, M.2
Tranfaglia, M.3
Bauchwitz, R.P.4
-
169
-
-
20044388322
-
Pharmacological rescue of synaptic plasticity, courtship behavior, and mushroom body defects in a Drosophila model of Fragile X syndrome
-
DOI 10.1016/j.neuron.2005.01.038
-
McBride SM, Choi CH, Wang Y et al (2005) Pharmacological rescue of synaptic plasticity, courtship behaviour, and mushroom body defects in a Drosophila model of fragile X syndrome. Neuron 45:753-764 (Pubitemid 40320709)
-
(2005)
Neuron
, vol.45
, Issue.5
, pp. 753-764
-
-
McBride, S.M.J.1
Choi, C.H.2
Wang, Y.3
Liebelt, D.4
Braunstein, E.5
Ferreiro, D.6
Sehgal, A.7
Siwicki, K.K.8
Dockendorff, T.C.9
Nguyen, H.T.10
McDonald, T.V.11
Jongens, T.A.12
-
170
-
-
23844547567
-
Enriched environment promotes behavioral and morphological recovery in a mouse model for the fragile X syndrome
-
DOI 10.1073/pnas.0504984102
-
Restivo L, Ferrari F, Passimo E et al (2005) Enriched environment promotes behavioural and morphological recovery in a mouse model for the fragile X syndrome. Proc Natl Acad Sci USA 102:11557-11562 (Pubitemid 41153858)
-
(2005)
Proceedings of the National Academy of Sciences of the United States of America
, vol.102
, Issue.32
, pp. 11557-11562
-
-
Restivo, L.1
Ferrari, F.2
Passino, E.3
Sgobio, C.4
Bock, J.5
Oostra, B.A.6
Bagni, C.7
Ammassari-Teule, M.8
|