-
1
-
-
0025905795
-
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
-
A.J.M.H. Verkerk, M. Pieretti, J.S. Sutcliffe, Y.H. Fu, D.P.A. Kuhl, A. Pizzuti, O. Reiner, S. Richards, M.F. Victoria, F.P. Zhang, B.E. Eussen, G.J.B. van Ommen, L.A.J. Blonden, G.J. Riggins, J.L. Chastain, C.B. Kunst, H. Galjaard, C.T. Caskey, D.L. Nelson, B.A. Oostra, and S.T. Warren Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome Cell 65 1991 905 914
-
(1991)
Cell
, vol.65
, 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.P.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..
-
2
-
-
0028141919
-
A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: The first 2,253 cases
-
F. Rousseau, D. Heitz, J. Tarleton, J. MacPherson, H. Malmgren, N. Dahl, A. Barnicoat, C. Mathew, E. Mornet, I. Tejada, A. Maddalena, R. Spiegel, A. Schinzel, J.A.G. Marcos, D.F. Schorderet, T. Schaap, L. Maccioni, S. Russo, P.A. Jacobs, C. Schwartz, and J.L. Mandel A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases Am J Hum Genet 55 1994 225 237
-
(1994)
Am J Hum Genet
, vol.55
, pp. 225-237
-
-
Rousseau, F.1
Heitz, D.2
Tarleton, J.3
Macpherson, J.4
Malmgren, H.5
Dahl, N.6
Barnicoat, A.7
Mathew, C.8
Mornet, E.9
Tejada, I.10
Maddalena, A.11
Spiegel, R.12
Schinzel, A.13
Marcos, J.A.G.14
Schorderet, D.F.15
Schaap, T.16
Maccioni, L.17
Russo, S.18
Jacobs, P.A.19
Schwartz, C.20
Mandel, J.L.21
more..
-
3
-
-
57049092347
-
Testing for fragile X gene mutations throughout the life span
-
R.J. Hagerman, and P.J. Hagerman Testing for fragile X gene mutations throughout the life span JAMA 300 2008 2419 2421
-
(2008)
JAMA
, vol.300
, pp. 2419-2421
-
-
Hagerman, R.J.1
Hagerman, P.J.2
-
4
-
-
0036626521
-
Timing of the absence of FMR1 expression in full mutation chorionic villi
-
R. Willemsen, C.J. Bontekoe, L.A. Severijnen, and B.A. Oostra Timing of the absence of FMR1 expression in full mutation chorionic villi Hum Genet 110 2002 601 605
-
(2002)
Hum Genet
, vol.110
, pp. 601-605
-
-
Willemsen, R.1
Bontekoe, C.J.2
Severijnen, L.A.3
Oostra, B.A.4
-
5
-
-
0033797832
-
Dendritic spine structural anomalies in fragile-X mental retardation syndrome
-
S.A. Irwin, R. Galvez, and W.T. Greenough Dendritic spine structural anomalies in fragile-X mental retardation syndrome Cereb Cortex 10 2000 1038 1044
-
(2000)
Cereb Cortex
, vol.10
, pp. 1038-1044
-
-
Irwin, S.A.1
Galvez, R.2
Greenough, W.T.3
-
6
-
-
0032999950
-
Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patients
-
M. Grasso, F. Faravelli, C. Lo Nigro, P. Chiurazzi, M.P. Sperandeo, A. Argusti, M.G. Pomponi, M. Lecora, G.F. Sebastio, L. Perroni, G. Andria, G. Neri, and F.D. Bricarelli Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patients Am J Med Genet 85 1999 311 316
-
(1999)
Am J Med Genet
, vol.85
, pp. 311-316
-
-
Grasso, M.1
Faravelli, F.2
Lo Nigro, C.3
Chiurazzi, P.4
Sperandeo, M.P.5
Argusti, A.6
Pomponi, M.G.7
Lecora, M.8
Sebastio, G.F.9
Perroni, L.10
Andria, G.11
Neri, G.12
Bricarelli, F.D.13
-
7
-
-
84855416324
-
Testing the FMR1 promoter for mosaicism in DNA methylation among CpG sites, strands, and cells in FMR1-expressing males with fragile X syndrome
-
R. Stoger, D.P. Genereux, R.J. Hagerman, P.J. Hagerman, F. Tassone, and C.D. Laird Testing the FMR1 promoter for mosaicism in DNA methylation among CpG sites, strands, and cells in FMR1-expressing males with fragile X syndrome PLoS One 6 2011 e23648
-
(2011)
PLoS One
, vol.6
, pp. 23648
-
-
Stoger, R.1
Genereux, D.P.2
Hagerman, R.J.3
Hagerman, P.J.4
Tassone, F.5
Laird, C.D.6
-
8
-
-
0031971691
-
Unusual mutations in high functioning fragile X males: Apparent instability of expanded unmethylated CGG repeats
-
D. Wohrle, U. Salat, D. Glaser, J. Mucke, M. Meisel-Stosiek, D. Schindler, W. Vogel, and P. Steinbach Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats J Med Genet 35 1998 103 111
-
(1998)
J Med Genet
, vol.35
, pp. 103-111
-
-
Wohrle, D.1
Salat, U.2
Glaser, D.3
Mucke, J.4
Meisel-Stosiek, M.5
Schindler, D.6
Vogel, W.7
Steinbach, P.8
-
9
-
-
42049113610
-
FMR1 CGG repeat length predicts motor dysfunction in premutation carriers
-
M.A. Leehey, E. Berry-Kravis, C.G. Goetz, L. Zhang, D.A. Hall, L. Li, C.D. Rice, R. Lara, J. Cogswell, A. Reynolds, L. Gane, S. Jacquemont, F. Tassone, J. Grigsby, R.J. Hagerman, and P.J. Hagerman FMR1 CGG repeat length predicts motor dysfunction in premutation carriers Neurology 70 2008 1397 1402
-
(2008)
Neurology
, vol.70
, pp. 1397-1402
-
-
Leehey, M.A.1
Berry-Kravis, E.2
Goetz, C.G.3
Zhang, L.4
Hall, D.A.5
Li, L.6
Rice, C.D.7
Lara, R.8
Cogswell, J.9
Reynolds, A.10
Gane, L.11
Jacquemont, S.12
Tassone, F.13
Grigsby, J.14
Hagerman, R.J.15
Hagerman, P.J.16
-
10
-
-
33645314905
-
Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation
-
B. Bodega, S. Bione, L. Dalpra, D. Toniolo, F. Ornaghi, W. Vegetti, E. Ginelli, and A. Marozzi Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation Hum Reprod 21 2006 952 957
-
(2006)
Hum Reprod
, vol.21
, pp. 952-957
-
-
Bodega, B.1
Bione, S.2
Dalpra, L.3
Toniolo, D.4
Ornaghi, F.5
Vegetti, W.6
Ginelli, E.7
Marozzi, A.8
-
11
-
-
73349120934
-
Premature ovarian failure and fragile X female premutation carriers: No evidence for a skewed X-chromosome inactivation pattern
-
L. Rodriguez-Revenga, I. Madrigal, C. Badenas, M. Xuncla, L. Jimenez, and M. Mila Premature ovarian failure and fragile X female premutation carriers: no evidence for a skewed X-chromosome inactivation pattern Menopause 16 2009 944 949
-
(2009)
Menopause
, vol.16
, pp. 944-949
-
-
Rodriguez-Revenga, L.1
Madrigal, I.2
Badenas, C.3
Xuncla, M.4
Jimenez, L.5
Mila, M.6
-
13
-
-
34147129139
-
Autism spectrum phenotype in males and females with fragile X full mutation and premutation
-
S. Clifford, C. Dissanayake, Q.M. Bui, R. Huggins, A.K. Taylor, and D.Z. Loesch Autism spectrum phenotype in males and females with fragile X full mutation and premutation J Autism Dev Disord 37 2007 738 747
-
(2007)
J Autism Dev Disord
, vol.37
, pp. 738-747
-
-
Clifford, S.1
Dissanayake, C.2
Bui, Q.M.3
Huggins, R.4
Taylor, A.K.5
Loesch, D.Z.6
-
14
-
-
75449113201
-
X chromosome inactivation does not define the development of premature ovarian failure in fragile X premutation carriers
-
M.A. Spath, W.N. Nillesen, A.P. Smits, T.B. Feuth, D.D. Braat, A.G. van Kessel, and H.G. Yntema X chromosome inactivation does not define the development of premature ovarian failure in fragile X premutation carriers Am J Med Genet 152A 2010 387 393
-
(2010)
Am J Med Genet
, vol.152 A
, pp. 387-393
-
-
Spath, M.A.1
Nillesen, W.N.2
Smits, A.P.3
Feuth, T.B.4
Braat, D.D.5
Van Kessel, A.G.6
Yntema, H.G.7
-
15
-
-
9144252520
-
Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population
-
S. Jacquemont, R.J. Hagerman, M.A. Leehey, D.A. Hall, R.A. Levine, J.A. Brunberg, L. Zhang, T. Jardini, L.W. Gane, S.W. Harris, K. Herman, J. Grigsby, C.M. Greco, E. Berry-Kravis, F. Tassone, and P.J. Hagerman Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population JAMA 291 2004 460 469
-
(2004)
JAMA
, vol.291
, pp. 460-469
-
-
Jacquemont, S.1
Hagerman, R.J.2
Leehey, M.A.3
Hall, D.A.4
Levine, R.A.5
Brunberg, J.A.6
Zhang, L.7
Jardini, T.8
Gane, L.W.9
Harris, S.W.10
Herman, K.11
Grigsby, J.12
Greco, C.M.13
Berry-Kravis, E.14
Tassone, F.15
Hagerman, P.J.16
-
16
-
-
78751631879
-
FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: Insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States
-
F.M. Hantash, D.M. Goos, B. Crossley, B. Anderson, K. Zhang, W. Sun, and C.M. Strom FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States Genet Med 13 2011 39 45
-
(2011)
Genet Med
, vol.13
, pp. 39-45
-
-
Hantash, F.M.1
Goos, D.M.2
Crossley, B.3
Anderson, B.4
Zhang, K.5
Sun, W.6
Strom, C.M.7
-
17
-
-
0030015140
-
Tissue differences in fragile X mosaics: Mosaicism in blood cells may differ greatly from skin
-
C.S. Dobkin, S.L. Nolin, I. Cohen, V. Sudhalter, M.G. Bialer, X.H. Ding, E.C. Jenkins, N. Zhong, and W.T. Brown Tissue differences in fragile X mosaics: mosaicism in blood cells may differ greatly from skin Am J Med Genet 64 1996 296 301
-
(1996)
Am J Med Genet
, vol.64
, pp. 296-301
-
-
Dobkin, C.S.1
Nolin, S.L.2
Cohen, I.3
Sudhalter, V.4
Bialer, M.G.5
Ding, X.H.6
Jenkins, E.C.7
Zhong, N.8
Brown, W.T.9
-
18
-
-
27644507366
-
Fragile X syndrome: Diagnostic and carrier testing
-
S. Sherman, B.A. Pletcher, and D.A. Driscoll Fragile X syndrome: diagnostic and carrier testing Genet Med 7 2005 584 587
-
(2005)
Genet Med
, vol.7
, pp. 584-587
-
-
Sherman, S.1
Pletcher, B.A.2
Driscoll, D.A.3
-
19
-
-
80052036864
-
Clinical utility gene card for: Fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency
-
S. Jacquemont, S. Birnbaum, S. Redler, P. Steinbach, and V. Biancalana Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency Eur J Hum Genet 2011 http://dx.doi.org/10.1038/ejhg.2011.55
-
(2011)
Eur J Hum Genet
-
-
Jacquemont, S.1
Birnbaum, S.2
Redler, S.3
Steinbach, P.4
Biancalana, V.5
-
21
-
-
33746625983
-
Simplified molecular diagnosis of fragile X syndrome by fluorescent methylation-specific PCR and GeneScan analysis
-
Y. Zhou, J.M. Lum, G.H. Yeo, J. Kiing, S.K. Tay, and S.S. Chong Simplified molecular diagnosis of fragile X syndrome by fluorescent methylation-specific PCR and GeneScan analysis Clin Chem 52 2006 1492 1500
-
(2006)
Clin Chem
, vol.52
, pp. 1492-1500
-
-
Zhou, Y.1
Lum, J.M.2
Yeo, G.H.3
Kiing, J.4
Tay, S.K.5
Chong, S.S.6
-
22
-
-
37549001314
-
A ligation assay for multiplex analysis of CpG methylation using bisulfite-treated DNA
-
C. Dahl, and P. Guldberg A ligation assay for multiplex analysis of CpG methylation using bisulfite-treated DNA Nucleic Acids Res 35 2007 e144
-
(2007)
Nucleic Acids Res
, vol.35
, pp. 144
-
-
Dahl, C.1
Guldberg, P.2
-
23
-
-
79959234736
-
High-resolution methylation polymerase chain reaction for fragile X analysis: Evidence for novel FMR1 methylation patterns undetected in Southern blot analyses
-
L. Chen, A.G. Hadd, S. Sah, J.F. Houghton, S. Filipovic-Sadic, W. Zhang, P.J. Hagerman, F. Tassone, and G.J. Latham High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses Genet Med 13 2011 528 538
-
(2011)
Genet Med
, vol.13
, pp. 528-538
-
-
Chen, L.1
Hadd, A.G.2
Sah, S.3
Houghton, J.F.4
Filipovic-Sadic, S.5
Zhang, W.6
Hagerman, P.J.7
Tassone, F.8
Latham, G.J.9
-
24
-
-
55949085788
-
Methylation-specific multiplex ligation-dependent probe amplification enables a rapid and reliable distinction between male FMR1 premutation and full-mutation alleles
-
A.O. Nygren, S.I. Lens, and R. Carvalho Methylation-specific multiplex ligation-dependent probe amplification enables a rapid and reliable distinction between male FMR1 premutation and full-mutation alleles J Mol Diagn 10 2008 496 501
-
(2008)
J Mol Diagn
, vol.10
, pp. 496-501
-
-
Nygren, A.O.1
Lens, S.I.2
Carvalho, R.3
-
25
-
-
70350519151
-
Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA
-
B. Coffee, K. Keith, I. Albizua, T. Malone, J. Mowrey, S.L. Sherman, and S.T. Warren Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA Am J Hum Genet 85 2009 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
-
26
-
-
82755191695
-
FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles
-
D.E. Godler, H.R. Slater, Q.M. Bui, M. Ono, F. Gehling, D. Francis, D.J. Amor, J.L. Hopper, R. Hagerman, and D.Z. Loesch FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles J Mol Diagn 13 2011 528 536
-
(2011)
J Mol Diagn
, vol.13
, pp. 528-536
-
-
Godler, D.E.1
Slater, H.R.2
Bui, Q.M.3
Ono, M.4
Gehling, F.5
Francis, D.6
Amor, D.J.7
Hopper, J.L.8
Hagerman, R.9
Loesch, D.Z.10
-
27
-
-
77649221039
-
A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome
-
S. Filipovic-Sadic, S. Sah, L. Chen, J. Krosting, E. Sekinger, W. Zhang, P.J. Hagerman, T.T. Stenzel, A.G. Hadd, G.J. Latham, and F. Tassone A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome Clin Chem 56 2010 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.G.9
Latham, G.J.10
Tassone, F.11
-
28
-
-
77956816409
-
An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis
-
L. Chen, A. Hadd, S. Sah, S. Filipovic-Sadic, J. Krosting, E. Sekinger, R. Pan, P.J. Hagerman, T.T. Stenzel, F. Tassone, and G.J. Latham An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis J Mol Diagn 12 2010 589 600
-
(2010)
J Mol Diagn
, vol.12
, pp. 589-600
-
-
Chen, L.1
Hadd, A.2
Sah, S.3
Filipovic-Sadic, S.4
Krosting, J.5
Sekinger, E.6
Pan, R.7
Hagerman, P.J.8
Stenzel, T.T.9
Tassone, F.10
Latham, G.J.11
-
29
-
-
84865085764
-
Performance evaluation of two methods using commercially available reagents for PCR-based detection of FMR1 mutation
-
J.S. Juusola, P. Anderson, F. Sabato, D.S. Wilkinson, A. Pandya, and A. Ferreira-Gonzalez Performance evaluation of two methods using commercially available reagents for PCR-based detection of FMR1 mutation J Mol Diagn 14 2012 476 486
-
(2012)
J Mol Diagn
, vol.14
, pp. 476-486
-
-
Juusola, J.S.1
Anderson, P.2
Sabato, F.3
Wilkinson, D.S.4
Pandya, A.5
Ferreira-Gonzalez, A.6
-
30
-
-
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
-
F. Tassone, R. Pan, K. Amiri, A.K. Taylor, and P.J. Hagerman 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 10 2008 43 49
-
(2008)
J Mol Diagn
, vol.10
, pp. 43-49
-
-
Tassone, F.1
Pan, R.2
Amiri, K.3
Taylor, A.K.4
Hagerman, P.J.5
-
31
-
-
0025952727
-
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
-
F. Rousseau, D. Heitz, V. Biancalana, S. Blumenfeld, C. Kretz, J. Boue, N. Tommerup, C. Van Der Hagen, C. DeLozier-Blanchet, M.F. Croquette, S. Gilgenkrantz, P. Jalbert, M.A. Voelckel, I. Oberle, and J.L. Mandel Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation N Engl J Med 325 1991 1673 1681
-
(1991)
N Engl J Med
, vol.325
, pp. 1673-1681
-
-
Rousseau, F.1
Heitz, D.2
Biancalana, V.3
Blumenfeld, S.4
Kretz, C.5
Boue, J.6
Tommerup, N.7
Van Der Hagen, C.8
Delozier-Blanchet, C.9
Croquette, M.F.10
Gilgenkrantz, S.11
Jalbert, P.12
Voelckel, M.A.13
Oberle, I.14
Mandel, J.L.15
-
32
-
-
84867356319
-
Reliable and sensitive detection of fragile X (expanded) alleles in clinical prenatal DNA samples with a fast turnaround time
-
S. Seneca, W. Lissens, K. Endels, B. Caljon, M. Bonduelle, K. Keymolen, M. De Rademaeker, U. Ullmann, P. Haentjens, K. Van Berkel, and S. Van Dooren Reliable and sensitive detection of fragile X (expanded) alleles in clinical prenatal DNA samples with a fast turnaround time J Mol Diagn 14 2012 560 568
-
(2012)
J Mol Diagn
, vol.14
, pp. 560-568
-
-
Seneca, S.1
Lissens, W.2
Endels, K.3
Caljon, B.4
Bonduelle, M.5
Keymolen, K.6
De Rademaeker, M.7
Ullmann, U.8
Haentjens, P.9
Van Berkel, K.10
Van Dooren, S.11
-
33
-
-
78650937072
-
Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056
-
S. Jacquemont, A. Curie, V. des Portes, M.G. Torrioli, E. Berry-Kravis, R.J. Hagerman, F.J. Ramos, K. Cornish, Y. He, C. Paulding, G. Neri, F. Chen, N. Hadjikhani, D. Martinet, J. Meyer, J.S. Beckmann, K. Delange, A. Brun, G. Bussy, F. Gasparini, T. Hilse, A. Floesser, J. Branson, G. Bilbe, D. Johns, and B. Gomez-Mancilla Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056 Sci Transl Med 3 2011 64ra1
-
(2011)
Sci Transl Med
, vol.3
-
-
Jacquemont, S.1
Curie, A.2
Des Portes, V.3
Torrioli, M.G.4
Berry-Kravis, E.5
Hagerman, R.J.6
Ramos, F.J.7
Cornish, K.8
He, Y.9
Paulding, C.10
Neri, G.11
Chen, F.12
Hadjikhani, N.13
Martinet, D.14
Meyer, J.15
Beckmann, J.S.16
Delange, K.17
Brun, A.18
Bussy, G.19
Gasparini, F.20
Hilse, T.21
Floesser, A.22
Branson, J.23
Bilbe, G.24
Johns, D.25
Gomez-Mancilla, B.26
more..
-
34
-
-
19144366486
-
Mental status of females with an FMR1 gene full mutation
-
B.B. de Vries, A.M. Wiegers, A.P. Smits, S. Mohkamsing, H.J. Duivenvoorden, J.P. Fryns, L.M. Curfs, D.J. Halley, B.A. Oostra, A.M. van den Ouweland, and M.F. Niermeijer Mental status of females with an FMR1 gene full mutation Am J Hum Genet 58 1996 1025 1032
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1025-1032
-
-
De Vries, B.B.1
Wiegers, A.M.2
Smits, A.P.3
Mohkamsing, S.4
Duivenvoorden, H.J.5
Fryns, J.P.6
Curfs, L.M.7
Halley, D.J.8
Oostra, B.A.9
Van Den Ouweland, A.M.10
Niermeijer, M.F.11
-
35
-
-
84857862311
-
Molecular genetic testing for fragile X syndrome: Laboratory performance on the College of American Pathologists proficiency surveys (2001-2009)
-
K.E. Weck, B. Zehnbauer, M. Datto, and I. Schrijver Molecular genetic testing for fragile X syndrome: laboratory performance on the College of American Pathologists proficiency surveys (2001-2009) Genet Med 14 2012 306 312
-
(2012)
Genet Med
, vol.14
, pp. 306-312
-
-
Weck, K.E.1
Zehnbauer, B.2
Datto, M.3
Schrijver, I.4
-
36
-
-
33746931612
-
A cryptic full mutation in a male with a classical fragile X phenotype
-
J.J. MacKenzie, I. Sumargo, and S.A. Taylor A cryptic full mutation in a male with a classical fragile X phenotype Clin Genet 70 2006 39 42
-
(2006)
Clin Genet
, vol.70
, pp. 39-42
-
-
Mackenzie, J.J.1
Sumargo, I.2
Taylor, S.A.3
-
37
-
-
16344366410
-
Recruitment rates and fear of phlebotomy in pediatric patients in a genetic study of epilepsy
-
D.J. Dlugos, T.M. Scattergood, T.N. Ferraro, W.H. Berrettinni, and R.J. Buono Recruitment rates and fear of phlebotomy in pediatric patients in a genetic study of epilepsy Epilepsy Behav 6 2005 444 446 Development
-
(2005)
Epilepsy Behav
, vol.6
, pp. 444-446
-
-
Dlugos, D.J.1
Scattergood, T.M.2
Ferraro, T.N.3
Berrettinni, W.H.4
Buono, R.J.5
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