-
1
-
-
0025833298
-
Absence of expression of the FMR-1 gene in fragile X syndrome
-
Pieretti M, Zhang FP, Fu YH, Warren ST, Oostra BA, Caskey CT, Nelson DL: Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 1991, 66:817-822 (Pubitemid 121001715)
-
(1991)
Cell
, vol.66
, Issue.4
, pp. 817-822
-
-
Pieretti, M.1
Zhang, F.2
Fu, Y.-H.3
Warren, S.T.4
Oostra, B.A.5
Caskey, C.T.6
Nelson, D.L.7
-
2
-
-
19144366486
-
Mental status of females with an FMR1 gene full mutation
-
de Vries BB, Wiegers AM, Smits AP, Mohkamsing S, Duivenvoorden HJ, Fryns JP, Curfs LM, Halley DJ, Oostra BA, van den Ouweland AM, Niermeijer MF: Mental status of females with an FMR1 gene full mutation. Am J Hum Genet 1996, 58:1025-1032 (Pubitemid 26115174)
-
(1996)
American Journal of Human Genetics
, vol.58
, Issue.5
, pp. 1025-1032
-
-
De Vries, B.B.A.1
Wiegers, A.M.2
Smits, A.P.T.3
Mohkamsing, S.4
Duivenvoorden, H.J.5
Fryns, J.-P.6
Curfs, L.M.G.7
Halley, D.J.J.8
Oostra, B.A.9
Van Den, O.A.M.W.10
Niermeijer, M.F.11
-
3
-
-
0033515679
-
Genotype, molecular phenotype, and cognitive phenotype: Correlations in fragile X syndrome
-
DOI 10.1002/(SICI)1096-8628(19990402)83:4<286::AID-AJMG10>3.0.CO;2- H
-
Kaufmann WE, Abrams MT, Chen W, Reiss AL: Genotype, molecular phenotype, and cognitive phenotype: correlations in fragile X syndrome. Am J Med Genet 1999, 83:286-295 (Pubitemid 29162630)
-
(1999)
American Journal of Medical Genetics
, vol.83
, Issue.4
, pp. 286-295
-
-
Kaufmann, W.E.1
Abrams, M.T.2
Chen, W.3
Reiss, A.L.4
-
4
-
-
0033797832
-
Dendritic spine structural anomalies in fragile-X mental retardation syndrome
-
Irwin SA, Galvez R, Greenough WT: Dendritic spine structural anomalies in fragile-X mental retardation syndrome. Cereb Cortex 2000, 10:1038-1044
-
(2000)
Cereb Cortex
, vol.10
, pp. 1038-1044
-
-
Irwin, S.A.1
Galvez, R.2
Greenough, W.T.3
-
5
-
-
77957967785
-
In vivo brain anatomy of adult males with fragile X syndrome: An MRI study
-
Hallahan BP, Craig MC, Toal F, Daly EM, Moore CJ, Ambikapathy A, Robertson D, Murphy KC, Murphy DG: In vivo brain anatomy of adult males with fragile X syndrome: an MRI study. Neuroimage 2011, 54:16-24
-
(2011)
Neuroimage
, vol.54
, pp. 16-24
-
-
Hallahan, B.P.1
Craig, M.C.2
Toal, F.3
Daly, E.M.4
Moore, C.J.5
Ambikapathy, A.6
Robertson, D.7
Murphy, K.C.8
Murphy, D.G.9
-
6
-
-
77649221039
-
A novel FMR1 PCR method for the routine detection of low-abundance expanded alleles and full mutations in fragile X syndrome
-
Filipovic-Sadic S, Sah S, Chen L, Krosting J, Sekinger E, Zhang W, Hagerman PJ, Stenzel TT, Hadd A, Latham GJ, Tassone F: A novel FMR1 PCR method for the routine detection of low-abundance expanded alleles and full mutations in fragile X syndrome. Clin Chem 2010, 56:399-408
-
(2010)
Clin Chem
, vol.56
, pp. 399-408
-
-
Filipovic-Sadic, S.1
Sah, S.2
Chen, L.3
Krosting, J.4
Sekinger, E.5
Zhang, W.6
Hagerman, P.J.7
Stenzel, T.T.8
Hadd, A.9
Latham, G.J.10
Tassone, F.11
-
7
-
-
78751627969
-
Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier and newborn screening
-
Hantash FM, Goos DG, Tsao D, Quan F, Buller-Burckle A, Peng M, Jarvis M, Sun W, Strom CM: Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screening. Genet Med 2010, 12:162-173
-
(2010)
Genet Med
, vol.12
, pp. 162-173
-
-
Hantash, F.M.1
Goos, D.G.2
Tsao, D.3
Quan, F.4
Buller-Burckle, A.5
Peng, M.6
Jarvis, M.7
Sun, W.8
Strom, C.M.9
-
8
-
-
77954378964
-
A simple, high-throughput assay for fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis
-
Lyon E, Laver T, Yu P, Jama M, Young K, Zoccoli M, Marlowe N: A simple, high-throughput assay for fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis. J Mol Diagn 2010, 12:505-511
-
(2010)
J Mol Diagn
, vol.12
, pp. 505-511
-
-
Lyon, E.1
Laver, T.2
Yu, P.3
Jama, M.4
Young, K.5
Zoccoli, M.6
Marlowe, N.7
-
9
-
-
38749141432
-
A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations
-
DOI 10.2353/jmoldx.2008.070073
-
Tassone F, Pan R, Amiri K, Taylor AK, Hagerman PJ: A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations. J Mol Diagn 2008, 10:43-49 (Pubitemid 351184834)
-
(2008)
Journal of Molecular Diagnostics
, vol.10
, Issue.1
, pp. 43-49
-
-
Tassone, F.1
Pan, R.2
Amiri, K.3
Taylor, A.K.4
Hagerman, P.J.5
-
10
-
-
84942951309
-
Molecular predictors of cognitive involvement in female carriers of fragile X syndrome
-
DOI 10.1001/jama.271.7.507
-
Taylor AK, Safanda JF, Fall MZ, Quince C, Lang KA, Hull CE, Carpenter I, Staley LW, Hagerman RJ: Molecular predictors of cognitive involvement in female carriers of fragile X syndrome. JAMA 1994, 271:507-514 (Pubitemid 24050314)
-
(1994)
Journal of the American Medical Association
, vol.271
, Issue.7
, pp. 507-514
-
-
Taylor, A.K.1
Safanda, J.F.2
Fall, M.Z.3
Quince, C.4
Lang, K.A.5
Hull, C.E.6
Carpenter, I.7
Staley, L.W.8
Hagerman, R.J.9
-
11
-
-
0028264043
-
High functioning fragile X males: Demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression
-
DOI 10.1002/ajmg.1320510404
-
Hagerman RJ, Hull CE, Safanda JF, Carpenter I, Staley LW, O'Connor RA, Seydel C, Mazzocco MM, Snow K, Thibodeau SN, Kuh D, Nelson DL, Caskey CT, Annette KT: High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression. Am J Med Genet 1994, 51:298-308 (Pubitemid 24197696)
-
(1994)
American Journal of Medical Genetics
, vol.51
, Issue.4
, pp. 298-308
-
-
Hagerman, R.J.1
Hull, C.E.2
Safanda, J.F.3
Carpenter, I.4
Staley, L.W.5
O'Connor, R.A.6
Seydel, C.7
Mazzocco, M.M.M.8
Snow, K.9
Thibodeau, S.N.10
Kuhl, D.11
Nelson, D.L.12
Caskey, C.T.13
Taylor, A.K.14
-
12
-
-
0027377155
-
High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome
-
Hornstra IK, Nelson DL, Warren ST, Yang TP: High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome. Hum Mol Genet 1993, 2:1659-1665 (Pubitemid 23358685)
-
(1993)
Human Molecular Genetics
, vol.2
, Issue.10
, pp. 1659-1665
-
-
Hornstra, I.K.1
Nelson, D.L.2
Warren, S.T.3
Yang, T.P.4
-
13
-
-
33745187115
-
Methylation- Dependent fragment separation: Direct detection of DNA methylation by capillary electrophoresis of PCR products from bisulfiteconverted genomic DNA
-
Boyd VL, Moody KI, Karger AE, Livak KJ, Zon G, Burns JW: Methylation- dependent fragment separation: direct detection of DNA methylation by capillary electrophoresis of PCR products from bisulfiteconverted genomic DNA. Anal Biochem 2006, 354:266-273
-
(2006)
Anal Biochem
, vol.354
, pp. 266-273
-
-
Boyd, V.L.1
Moody, K.I.2
Karger, A.E.3
Livak, K.J.4
Zon, G.5
Burns, J.W.6
-
14
-
-
55949085788
-
Methylation-specific multiplex ligation- Dependent probe amplification enables a rapid and reliable distinction between male FMR1 premutation and full-mutation alleles
-
Nygren AO, Lens SI, Carvalho R: Methylation-specific multiplex ligation- dependent probe amplification enables a rapid and reliable distinction between male FMR1 premutation and full-mutation alleles. J Mol Diagn 2008, 10:496-501
-
(2008)
J Mol Diagn
, vol.10
, pp. 496-501
-
-
Nygren, A.O.1
Lens, S.I.2
Carvalho, R.3
-
15
-
-
33746625983
-
Simplified molecular diagnosis of fragile X syndrome by fluorescent methylation-specific PCR and GeneScan analysis
-
DOI 10.1373/clinchem.2006.068593
-
Zhou Y, Lum JM, Yeo GH, Kiing J, Tay SK, Chong SS: Simplified molecular diagnosis of fragile X syndrome by fluorescent methylationspecific PCR and GeneScan analysis. Clin Chem 2006, 52:1492-1500 (Pubitemid 44148311)
-
(2006)
Clinical Chemistry
, vol.52
, Issue.8
, pp. 1492-1500
-
-
Zhou, Y.1
Lum, J.M.S.2
Yeo, G.-H.3
Kiing, J.4
Tay, S.K.H.5
Chong, S.S.6
-
16
-
-
34147221390
-
A homogeneous assay for analysis of FMR1 promoter methylation in patients with fragile X syndrome
-
DOI 10.1373/clinchem.2006.080762
-
Dahl C, Gronskov K, Larsen LA, Guldberg P, Brondum-Nielsen K: A homogeneous assay for analysis of FMR1 promoter methylation in patients with fragile X syndrome. Clin Chem 2007, 53:790-793 (Pubitemid 46580255)
-
(2007)
Clinical Chemistry
, vol.53
, Issue.4
, pp. 790-793
-
-
Dahl, C.1
Gronskov, K.2
Larsen, L.A.3
Guldberg, P.4
Brondum-Nielsen, K.5
-
17
-
-
35648994779
-
High-resolution melting for accurate assessment of DNA methylation
-
DOI 10.1373/clinchem.2007.094854
-
Dahl C, Guldberg P: High-resolution melting for accurate assessment of DNA methylation. Clin Chem 2007, 53:1877-1878 (Pubitemid 350036029)
-
(2007)
Clinical Chemistry
, vol.53
, Issue.11
, pp. 1877-1878
-
-
Dahl, C.1
Guldberg, P.2
-
18
-
-
37549001314
-
A ligation assay for multiplex analysis of CpG methylation using bisulfite-treated DNA
-
Dahl C, Guldberg P: A ligation assay for multiplex analysis of CpG methylation using bisulfite-treated DNA. Nucleic Acids Res 2007, 35:e144
-
(2007)
Nucleic Acids Res
, vol.35
-
-
Dahl, C.1
Guldberg, P.2
-
19
-
-
29244490041
-
Analysis of repetitive element DNA methylation by MethyLight
-
DOI 10.1093/nar/gki987
-
Weisenberger DJ, Campan M, Long TI, Kim M, Woods C, Fiala E, Ehrlich M, Laird PW: Analysis of repetitive element DNA methylation by MethyLight. Nucleic Acids Res 2005, 33:6823-6836 (Pubitemid 41830488)
-
(2005)
Nucleic Acids Research
, vol.33
, Issue.21
, pp. 6823-6836
-
-
Weisenberger, D.J.1
Campan, M.2
Long, T.I.3
Kim, M.4
Woods, C.5
Fiala, E.6
Ehrlich, M.7
Laird, P.W.8
-
20
-
-
0034920619
-
Evaluation of the fragile X (FRAXA) syndrome with methylation-sensitive PCR
-
DOI 10.1007/s004390100519
-
Weinhausel A, Haas OA: Evaluation of the fragile X (FRAXA) syndrome with methylation-sensitive PCR. Hum Genet 2001, 108:450-458 (Pubitemid 32700346)
-
(2001)
Human Genetics
, vol.108
, Issue.6
, pp. 450-458
-
-
Weinhausel, A.1
Haas, O.A.2
-
21
-
-
70350519151
-
Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA
-
Coffee B, Keith K, Albizua I, Malone T, Mowrey J, Sherman SL, Warren ST: Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet 2009, 85:503-514
-
(2009)
Am J Hum Genet
, vol.85
, pp. 503-514
-
-
Coffee, B.1
Keith, K.2
Albizua, I.3
Malone, T.4
Mowrey, J.5
Sherman, S.L.6
Warren, S.T.7
-
22
-
-
0030785355
-
Epigenetic variation illustrated by DNA methylation patterns of the fragile-X gene FMR1
-
DOI 10.1093/hmg/6.11.1791
-
Stoger R, Kajimura TM, Brown WT, Laird CD: Epigenetic variation illustrated by DNA methylation patterns of the fragile-X gene FMR1. Hum Mol Genet 1997, 6:1791-1801 (Pubitemid 27460352)
-
(1997)
Human Molecular Genetics
, vol.6
, Issue.11
, pp. 1791-1801
-
-
Stoger, R.1
Kajimura, T.M.2
Brown, W.T.3
Laird, C.D.4
-
23
-
-
34447269154
-
PCR approach for detection of Fragile X syndrome and Huntington disease based on modified DNA: Limits and utility
-
DOI 10.1089/gte.2006.0508
-
Rosales-Reynoso MA, Vilatela EA, Ojeda RM, Arce-Rivas A, Sandoval L, Troyo-Sanroman R, Barros-Nunez P: PCR approach for detection of fragile X syndrome and Huntington disease based on modified DNA: limits and utility. Genet Test 2007, 11:153-159 (Pubitemid 47041933)
-
(2007)
Genetic Testing
, vol.11
, Issue.2
, pp. 153-159
-
-
Rosales-Reynoso, M.A.1
Vilatela, E.A.2
Ojeda, R.M.3
Arce-Rivas, A.4
Sandoval, L.5
Troyo-Sanroman, R.6
Barros-Nunez, P.7
-
24
-
-
2342453877
-
Robust fragile X (CGG)n genotype classification using a methylation specific triple PCR assay
-
Zhou Y, Law HY, Boehm CD, Yoon CS, Cutting GR, Ng IS, Chong SS: Robust fragile X (CGG)n genotype classification using a methylation specific triple PCR assay. J Med Genet 2004, 41:e45
-
(2004)
J Med Genet
, vol.41
-
-
Zhou, Y.1
Law, H.Y.2
Boehm, C.D.3
Yoon, C.S.4
Cutting, G.R.5
Ng, I.S.6
Chong, S.S.7
-
25
-
-
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, Dyer PN, Lampe M, Willemsen R, Oostra BA, Taylor AK: FMRP expression as a potential prognostic indicator in fragile X syndrome. Am J Med Genet 1999, 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
-
26
-
-
77952304162
-
Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio
-
Godler DE, Tassone F, Loesch DZ, Taylor AK, Gehling F, Hagerman RJ, Burgess T, Ganesamoorthy D, Hennerich D, Gordon L, Evans A, Choo KH, Slater HR: Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio. Hum Mol Genet 2010, 19:1618-1632
-
(2010)
Hum Mol Genet
, vol.19
, pp. 1618-1632
-
-
Godler, D.E.1
Tassone, F.2
Loesch, D.Z.3
Taylor, A.K.4
Gehling, F.5
Hagerman, R.J.6
Burgess, T.7
Ganesamoorthy, D.8
Hennerich, D.9
Gordon, L.10
Evans, A.11
Choo, K.H.12
Slater, H.R.13
-
27
-
-
77957226059
-
Methylation analysis of fragile X related epigenetic elements may provide a suitable newborn screening test for fragile X syndrome
-
Godler DE, Slater HR, Amor D, Loesch DZ: Methylation analysis of fragile X related epigenetic elements may provide a suitable newborn screening test for fragile X syndrome. Med Genet 2010, 12:595
-
(2010)
Med Genet
, vol.12
, pp. 595
-
-
Godler, D.E.1
Slater, H.R.2
Amor, D.3
Loesch, D.Z.4
-
28
-
-
0037100616
-
Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine
-
Pietrobono R, Pomponi MG, Tabolacci E, Oostra B, Chiurazzi P, Neri G: Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine. Nucleic Acids Res 2002, 30:3278-3285 (Pubitemid 34846192)
-
(2002)
Nucleic Acids Research
, vol.30
, Issue.14
, pp. 3278-3285
-
-
Pietrobono, R.1
Pomponi, M.G.2
Tabolacci, E.3
Oostra, B.4
Chiurazzi, P.5
Neri, G.6
-
29
-
-
59349108302
-
Oct4-induced pluripotency in adult neural stem cells
-
Kim JB, Sebastiano V, Wu G, Arauzo-Bravo MJ, Sasse P, Gentile L, Ko K, Ruau D, Ehrich M, van den Boom D, Meyer J, Hubner K, Bernemann C, Ortmeier C, Zenke M, Fleischmann BK, Zaehres H, Scholer HR: Oct4-induced pluripotency in adult neural stem cells. Cell 2009, 136:411-419
-
(2009)
Cell
, vol.136
, pp. 411-419
-
-
Kim, J.B.1
Sebastiano, V.2
Wu, G.3
Arauzo-Bravo, M.J.4
Sasse, P.5
Gentile, L.6
Ko, K.7
Ruau, D.8
Ehrich, M.9
Van Den Boom, D.10
Meyer, J.11
Hubner, K.12
Bernemann, C.13
Ortmeier, C.14
Zenke, M.15
Fleischmann, B.K.16
Zaehres, H.17
Scholer, H.R.18
-
30
-
-
77649271805
-
Consolidation of the cancer genome into domains of repressive chromatin by long-range epigenetic silencing (LRES) reduces transcriptional plasticity
-
Coolen MW, Stirzaker C, Song JZ, Statham AL, Kassir Z, Moreno CS, Young AN, Varma V, Speed TP, Cowley M, Lacaze P, Kaplan W, Robinson MD, Clark SJ: Consolidation of the cancer genome into domains of repressive chromatin by long-range epigenetic silencing (LRES) reduces transcriptional plasticity. Nat Cell Biol 2010, 12:235-246
-
(2010)
Nat Cell Biol
, vol.12
, pp. 235-246
-
-
Coolen, M.W.1
Stirzaker, C.2
Song, J.Z.3
Statham, A.L.4
Kassir, Z.5
Moreno, C.S.6
Young, A.N.7
Varma, V.8
Speed, T.P.9
Cowley, M.10
Lacaze, P.11
Kaplan, W.12
Robinson, M.D.13
Clark, S.J.14
-
31
-
-
35648937679
-
Genomic profiling of CpG methylation and allelic specificity using quantitative high-throughput mass spectrometry: Critical evaluation and improvements
-
Coolen MW, Statham AL, Gardiner-Garden M, Clark SJ: Genomic profiling of CpG methylation and allelic specificity using quantitative high-throughput mass spectrometry: critical evaluation and improvements. Nucleic Acids Res 2007, 35:e119
-
(2007)
Nucleic Acids Res
, vol.35
-
-
Coolen, M.W.1
Statham, A.L.2
Gardiner-Garden, M.3
Clark, S.J.4
-
32
-
-
27644548948
-
Quantitative high-throughput analysis of DNA methylation patterns by base-specific cleavage and mass spectrometry
-
DOI 10.1073/pnas.0507816102
-
Ehrich M, Nelson MR, Stanssens P, Zabeau M, Liloglou T, Xinarianos G, Cantor CR, Field JK, van den Boom D: Quantitative high-throughput analysis of DNA methylation patterns by base-specific cleavage and mass spectrometry. Proc Natl Acad Sci U S A 2005, 102:15785-15790 (Pubitemid 41552820)
-
(2005)
Proceedings of the National Academy of Sciences of the United States of America
, vol.102
, Issue.44
, pp. 15785-15790
-
-
Ehrich, M.1
Nelson, M.R.2
Stanssens, P.3
Zabeau, M.4
Liloglou, T.5
Xinarianos, G.6
Cantor, C.R.7
Field, J.K.8
Van Den, B.D.9
-
34
-
-
0029028295
-
Rapid antibody test for fragile X syndrome
-
Willemsen R, Mohkamsing S, de Vries B, Devys D, van den Ouweland A, Mandel JL, Galjaard H, Oostra B: Rapid antibody test for fragile X syndrome. Lancet 1995, 345:1147-1148
-
(1995)
Lancet
, vol.345
, pp. 1147-1148
-
-
Willemsen, R.1
Mohkamsing, S.2
De Vries, B.3
Devys, D.4
Van Den Ouweland, A.5
Mandel, J.L.6
Galjaard, H.7
Oostra, B.8
-
35
-
-
0037079905
-
Application of robust pedigree analysis in studies of complex genotype-phenotype relationships in fragile X syndrome
-
DOI 10.1002/ajmg.10129
-
Loesch DZ, Huggins RM, Taylor AK: Application of robust pedigree analysis in studies of complex genotype-phenotype relationships in fragile X syndrome. Am J Med Genet 2002, 107:136-142 (Pubitemid 34038595)
-
(2002)
American Journal of Medical Genetics
, vol.107
, Issue.2
, pp. 136-142
-
-
Loesch, D.Z.1
Huggins, R.M.2
Taylor, A.K.3
-
36
-
-
70349508331
-
An improved diagnostic PCR assay for identification of cryptic heterozygosity for CGG triplet repeat alleles in the fragile X gene (FMR1)
-
Khaniani MS, Kalitsis P, Burgess T, Slater HR: An improved diagnostic PCR assay for identification of cryptic heterozygosity for CGG triplet repeat alleles in the fragile X gene (FMR1). Mol Cytogenet 2008, 1:5
-
(2008)
Mol Cytogenet
, vol.1
, pp. 5
-
-
Khaniani, M.S.1
Kalitsis, P.2
Burgess, T.3
Slater, H.R.4
-
37
-
-
0034526068
-
Transcription of the FMR1 gene in individuals with fragile X syndrome
-
DOI 10.1002/1096-8628(200023)97:3<195::AID-AJMG1037>3.0.CO;2-R
-
Tassone F, Hagerman RJ, Chamberlain WD, Hagerman PJ: Transcription of the FMR1 gene in individuals with fragile X syndrome. Am J Med Genet 2000, 97:195-203 (Pubitemid 32059207)
-
(2000)
American Journal of Medical Genetics - Seminars in Medical Genetics
, vol.97
, Issue.3
, pp. 195-203
-
-
Tassone, F.1
Hagerman, R.J.2
Chamberlain, W.D.3
Hagerman, P.J.4
-
38
-
-
71849115415
-
A distinct DNA-methylation boundary in the 5=-upstream sequence of the FMR1 promoter binds nuclear proteins and is lost in fragile X syndrome
-
Naumann A, Hochstein N, Weber S, Fanning E, Doerfler W: A distinct DNA-methylation boundary in the 5=-upstream sequence of the FMR1 promoter binds nuclear proteins and is lost in fragile X syndrome. Am J Hum Genet 2009, 85:606-616
-
(2009)
Am J Hum Genet
, vol.85
, pp. 606-616
-
-
Naumann, A.1
Hochstein, N.2
Weber, S.3
Fanning, E.4
Doerfler, W.5
-
39
-
-
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: Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. Am J Hum Genet 2000, 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
-
40
-
-
0035838379
-
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
-
Hagerman RJ, Leehey M, Heinrichs W, Tassone F, Wilson R, Hills J, Grigsby J, Gage B, Hagerman PJ: Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 2001, 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
-
41
-
-
0036345801
-
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers
-
Greco CM, Hagerman RJ, Tassone F, Chudley AE, Del Bigio MR, Jacquemont S, Leehey M, Hagerman PJ: Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain 2002, 125:1760-1771
-
(2002)
Brain
, vol.125
, pp. 1760-1771
-
-
Greco, C.M.1
Hagerman, R.J.2
Tassone, F.3
Chudley, A.E.4
Del Bigio, M.R.5
Jacquemont, S.6
Leehey, M.7
Hagerman, P.J.8
-
42
-
-
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, Babul-Hirji R, Chitayat D, Holden JJ, Yang KT, Lee C, et al.: 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 1999, 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, U.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..
-
43
-
-
14044268841
-
Association of FMR1 repeat size with ovarian dysfunction
-
DOI 10.1093/humrep/deh635
-
Sullivan AK, Marcus M, Epstein MP, Allen EG, Anido AE, Paquin JJ, Yadav-Shah M, Sherman SL: Association of FMR1 repeat size with ovarian dysfunction. Hum Reprod 2005, 20:402-412 (Pubitemid 40277608)
-
(2005)
Human Reproduction
, vol.20
, Issue.2
, pp. 402-412
-
-
Sullivan, A.K.1
Marcus, M.2
Epstein, M.P.3
Allen, E.G.4
Anido, A.E.5
Paquin, J.J.6
Yadav-Shah, M.7
Sherman, S.L.8
-
44
-
-
0027361706
-
Genotype-phenotype relationships in fragile X syndrome: A family study
-
Loesch DZ, Huggins R, Hay DA, Gedeon AK, Mulley JC, Sutherland GR: Genotype-phenotype relationships in fragile X syndrome: a family study. Am J Hum Genet 1993, 53:1064-1073 (Pubitemid 23313770)
-
(1993)
American Journal of Human Genetics
, vol.53
, Issue.5
, pp. 1064-1073
-
-
Loesch, D.Z.1
Huggins, R.2
Hay, D.A.3
Gedeon, A.K.4
Mulley, J.C.5
Sutherland, G.R.6
-
45
-
-
33846899670
-
Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X
-
DOI 10.1016/j.neubiorev.2006.09.007, PII S0149763406001114
-
Loesch DZ, Bui QM, Dissanayake C, Clifford S, Gould E, Bulhak- Paterson D, Tassone F, Taylor AK, Hessl D, Hagerman R, Huggins RM: Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X. Neurosci Biobehav Rev 2007, 31:315-326 (Pubitemid 46241448)
-
(2007)
Neuroscience and Biobehavioral Reviews
, vol.31
, Issue.3
, pp. 315-326
-
-
Loesch, D.Z.1
Bui, Q.M.2
Dissanayake, C.3
Clifford, S.4
Gould, E.5
Bulhak-Paterson, D.6
Tassone, F.7
Taylor, A.K.8
Hessl, D.9
Hagerman, R.10
Huggins, R.M.11
-
46
-
-
0036927063
-
Effect of the deficits of fragile X mental retardation protein on cognitive status of fragile X males and females assessed by robust pedigree analysis
-
Loesch DZ, Huggins RM, Bui QM, Epstein JL, Taylor AK, Hagerman RJ: Effect of the deficits of fragile X mental retardation protein on cognitive status of fragile x males and females assessed by robust pedigree analysis. J Dev Behav Pediatr 2002, 23:416-423 (Pubitemid 36054485)
-
(2002)
Journal of Developmental and Behavioral Pediatrics
, vol.23
, Issue.6
, pp. 416-423
-
-
Loesch, D.Z.1
Huggins, R.M.2
Bui, Q.M.3
Epstein, J.L.4
Taylor, A.K.5
Hagerman, R.J.6
-
47
-
-
59449085928
-
Advances in the treatment of fragile X syndrome
-
Hagerman RJ, Berry-Kravis E, Kaufmann WE, Ono MY, Tartaglia N, Lachiewicz A, Kronk R, Delahunty C, Hessl D, Visootsak J, Picker J, Gane L, Tranfaglia M: Advances in the treatment of fragile X syndrome. Pediatrics 2009, 123:378-390
-
(2009)
Pediatrics
, vol.123
, pp. 378-390
-
-
Hagerman, R.J.1
Berry-Kravis, E.2
Kaufmann, W.E.3
Ono, M.Y.4
Tartaglia, N.5
Lachiewicz, A.6
Kronk, R.7
Delahunty, C.8
Hessl, D.9
Visootsak, J.10
Picker, J.11
Gane, L.12
Tranfaglia, M.13
|