-
1
-
-
0026345716
-
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
-
Fu YH, Kuhl DP, Pizzuti A, et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 2001;67:1047-1058.
-
(2001)
Cell
, vol.67
, pp. 1047-1058
-
-
Fu, Y.H.1
Kuhl, D.P.2
Pizzuti, A.3
-
2
-
-
0025952727
-
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
-
Rousseau F, Heitz D, Biancalana V, et al. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med 1991;325:1673-1681.
-
(1991)
N Engl J Med
, vol.325
, pp. 1673-1681
-
-
Rousseau, F.1
Heitz, D.2
Biancalana, V.3
-
3
-
-
0034522229
-
Premature ovarian failure in the fragile X syndrome
-
Sherman SL. Premature ovarian failure in the fragile X syndrome. Am J Med Genet 2000;97:189-194.
-
(2000)
Am J Med Genet
, vol.97
, pp. 189-194
-
-
Sherman, S.L.1
-
5
-
-
0035838379
-
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
-
Hagerman RJ, Leehey M, Heinrichs W, et al. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 2001;57:127-130.
-
(2001)
Neurology
, vol.57
, pp. 127-130
-
-
Hagerman, R.J.1
Leehey, M.2
Heinrichs, W.3
-
6
-
-
0345538689
-
A cerebellar tremor/ataxia syndrome among fragile X premutation carriers
-
Hagerman PJ, Greco CM, Hagerman RJ. A cerebellar tremor/ataxia syndrome among fragile X premutation carriers. Cytogenet Genome Res 2003;100:206-212.
-
(2003)
Cytogenet Genome Res
, vol.100
, pp. 206-212
-
-
Hagerman, P.J.1
Greco, C.M.2
Hagerman, R.J.3
-
7
-
-
14044268841
-
Association of FMRP1 repeat size with ovarian dysfunction
-
Sullivan AK, Marcus M, Epstein MP, et al. Association of FMRP1 repeat size with ovarian dysfunction. Hum Reprod 2005;20:402-412.
-
(2005)
Hum Reprod
, vol.20
, pp. 402-412
-
-
Sullivan, A.K.1
Marcus, M.2
Epstein, M.P.3
-
8
-
-
0034128910
-
Reproductive and menstrual history of females with fragile X expansions
-
Murray A, Ennis S, MacSwiney F, Webb J, Morton NE. Reproductive and menstrual history of females with fragile X expansions. Eur J Hum Genet 2000;8:247-252.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 247-252
-
-
Murray, A.1
Ennis, S.2
MacSwiney, F.3
Webb, J.4
Morton, N.E.5
-
9
-
-
0033912299
-
Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations
-
Hundscheid RD, Sistermans EA, Thomas CM, et al. Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations. Am J Hum Genet 2000;66:413-428.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 413-428
-
-
Hundscheid, R.D.1
Sistermans, E.A.2
Thomas, C.M.3
-
10
-
-
0035098593
-
Implications of the FMR1 gene in menopause: Study of 147 Spanish women
-
Mallolas J, Duran M, Sanchez A, et al. Implications of the FMR1 gene in menopause: study of 147 Spanish women. Menopause 2001;8:106-110.
-
(2001)
Menopause
, vol.8
, pp. 106-110
-
-
Mallolas, J.1
Duran, M.2
Sanchez, A.3
-
11
-
-
31344455020
-
Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers
-
Ennis S, Ward D, Murray A. Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers. Eur J Hum Genet 2006;14:253-255.
-
(2006)
Eur J Hum Genet
, vol.14
, pp. 253-255
-
-
Ennis, S.1
Ward, D.2
Murray, A.3
-
12
-
-
0033940157
-
Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in the fragile-X syndrome
-
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.
-
(2000)
Am J Hum Genet
, vol.66
, 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
-
13
-
-
0037384643
-
Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates
-
Jacquemont S, Hagerman RJ, Leehey M, et al. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet 2003;72:869-878.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 869-878
-
-
Jacquemont, S.1
Hagerman, R.J.2
Leehey, M.3
-
14
-
-
34247360453
-
Analysis of FMR1 gene expression in female premutation carriers using robust segmented linear regression models
-
García-Alegría E, Ibáñez B, Mínguez M, et al. Analysis of FMR1 gene expression in female premutation carriers using robust segmented linear regression models. RNA 2007;13:756-762.
-
(2007)
RNA
, vol.13
, pp. 756-762
-
-
García-Alegría, E.1
Ibáñez, B.2
Mínguez, M.3
-
15
-
-
18144384470
-
An update: Spontaneous premature ovarian failure is not an early menopause
-
Nelson LM, Covington SN, Rebar RW. An update: spontaneous premature ovarian failure is not an early menopause. Fertil Steril 2005;83:1327-1332.
-
(2005)
Fertil Steril
, vol.83
, pp. 1327-1332
-
-
Nelson, L.M.1
Covington, S.N.2
Rebar, R.W.3
-
16
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acid Res 1998;16:1215.
-
(1998)
Nucleic Acid Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
17
-
-
0035745322
-
Diagnóstico molecular por reacción en cadena de la polimerasa del Síndrome X frágil: Aplicación de un protocolo diagnóstico en 50 familias del norte de España.
-
Duran Domínguez M, Molina Carrillo M, Fernandez Toral J, et al. Diagnóstico molecular por reacción en cadena de la polimerasa del Síndrome X frágil: aplicación de un protocolo diagnóstico en 50 familias del norte de España. Ann Esp Pediatr 2001;54:331-339.
-
(2001)
Ann Esp Pediatr
, vol.54
, pp. 331-339
-
-
Duran Domínguez, M.1
Molina Carrillo, M.2
Fernandez Toral, J.3
-
18
-
-
0026663548
-
Direct DNA analysis of fragile X syndrome in Spanish pedigrees
-
Tejada I, Mornet E, Biancalana V, et al. Direct DNA analysis of fragile X syndrome in Spanish pedigrees. Am J Med Genet 1992;43:282-290.
-
(1992)
Am J Med Genet
, vol.43
, pp. 282-290
-
-
Tejada, I.1
Mornet, E.2
Biancalana, V.3
-
19
-
-
33751360696
-
Molecular predictors carriers of fragile X syndrome
-
Taylor AK, Safanda JF, Fall MZ, et al. Molecular predictors carriers of fragile X syndrome. JAMA 1994;271:552-553.
-
(1994)
JAMA
, vol.271
, pp. 552-553
-
-
Taylor, A.K.1
Safanda, J.F.2
Fall, M.Z.3
-
20
-
-
0033515496
-
Fragile X premutation is a significant risk factor for premature ovarian failure: The International Collaborative POF in Fragile X Study - preliminary data
-
Allingham-Hawkins DJ, Babul-Hirji R, Chitayat D, 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.
-
(1999)
Am J Med Genet
, vol.83
, pp. 322-325
-
-
Allingham-Hawkins, D.J.1
Babul-Hirji, R.2
Chitayat, D.3
|