-
1
-
-
0027265596
-
Human and murine FMR-1: Alternative splicing and translational initiation downstream of the CGG-repeat
-
Ashley, C.T., Sutcliffe, J.S., Kunst, C.B. et al. (1993) Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG-repeat. Nat. Genet., 4, 244-251.
-
(1993)
Nat. Genet.
, vol.4
, pp. 244-251
-
-
Ashley, C.T.1
Sutcliffe, J.S.2
Kunst, C.B.3
-
2
-
-
0027715424
-
Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and the female gonad
-
Bachner, D., Manca, A., Steinbach, P. et al. (1993) Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and the female gonad. Hum. Mol. Genet., 12, 2043-2050.
-
(1993)
Hum. Mol. Genet.
, vol.12
, pp. 2043-2050
-
-
Bachner, D.1
Manca, A.2
Steinbach, P.3
-
3
-
-
0027375451
-
Rapid fragile X carrier screening and prenatal diagnosis using nonradioactive PCR test
-
Brown, W.T., Houck, G.E., Jeziorowska, A. et al. (1993) Rapid fragile X carrier screening and prenatal diagnosis using nonradioactive PCR test. J. Am. Med. Assoc., 270, 1569-1575.
-
(1993)
J. Am. Med. Assoc.
, vol.270
, pp. 1569-1575
-
-
Brown, W.T.1
Houck, G.E.2
Jeziorowska, A.3
-
4
-
-
0029097960
-
Fragile X premutations in familial premature ovarian failure
-
Conway, G.S., Hettiarachchi, S., Murray, A. and Jacobs, P.A. (1995) Fragile X premutations in familial premature ovarian failure. Lancet, 346, 309-310.
-
(1995)
Lancet
, vol.346
, pp. 309-310
-
-
Conway, G.S.1
Hettiarachchi, S.2
Murray, A.3
Jacobs, P.A.4
-
5
-
-
0030065174
-
Characterization of idiopathic premature ovarian failure
-
Conway, G.S., Kaltsas, G., Patel, A. et al. (1996) Characterization of idiopathic premature ovarian failure. Fertil. Steril., 65, 337-341.
-
(1996)
Fertil. Steril.
, vol.65
, pp. 337-341
-
-
Conway, G.S.1
Kaltsas, G.2
Patel, A.3
-
6
-
-
0021032662
-
Evidence for a genetic factor in the aetiology of premature ovarian failure
-
Coulam, C.B., Stringfellow, S. and Hoefnagel, D. (1983) Evidence for a genetic factor in the aetiology of premature ovarian failure, Fertil. Steril., 40, 693-695.
-
(1983)
Fertil. Steril.
, vol.40
, pp. 693-695
-
-
Coulam, C.B.1
Stringfellow, S.2
Hoefnagel, D.3
-
7
-
-
0025967195
-
Heterozygous fragile X female: Historical, physical, cognitive, and cytogenetic features
-
Cronister, A., Schreiner, R., Wittenberger, M. et al. (1991) Heterozygous fragile X female: historical, physical, cognitive, and cytogenetic features. Am. J. Med. Genet., 38, 269-74.
-
(1991)
Am. J. Med. Genet.
, vol.38
, pp. 269-274
-
-
Cronister, A.1
Schreiner, R.2
Wittenberger, M.3
-
8
-
-
0027509234
-
A point mutation in the FMR-1 gene associated with fragile X mental retardation
-
de Boulle, K., Verkerk, A.J.M.H., Reyniers, E. et al. (1993) A point mutation in the FMR-1 gene associated with fragile X mental retardation. Nat. Genet., 3, 31-35.
-
(1993)
Nat. Genet.
, vol.3
, pp. 31-35
-
-
De Boulle, K.1
Verkerk, A.J.M.H.2
Reyniers, E.3
-
9
-
-
0027176361
-
The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation
-
Devys, D., Lutz, Y., Rouyer, N. et al. (1993) The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nat. Genet., 4, 335-340.
-
(1993)
Nat. Genet.
, vol.4
, pp. 335-340
-
-
Devys, D.1
Lutz, Y.2
Rouyer, N.3
-
10
-
-
0031181517
-
On the origin and frequency of Y chromosome deletions responsible for severe male infertility
-
Edwards, R.G. and Bishop, C.E. (1997) On the origin and frequency of Y chromosome deletions responsible for severe male infertility. Mol. Hum. Reprod., 3, 549-554.
-
(1997)
Mol. Hum. Reprod.
, vol.3
, pp. 549-554
-
-
Edwards, R.G.1
Bishop, C.E.2
-
11
-
-
0027209517
-
Fine structure of the human FMR1 gene
-
Eichler, E.E., Richards, S., Gibbs, R.A. and Nelson, D.L. (1993) Fine structure of the human FMR1 gene. Hum. Mol. Genet., 2, 1147-1153.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1147-1153
-
-
Eichler, E.E.1
Richards, S.2
Gibbs, R.A.3
Nelson, D.L.4
-
12
-
-
0028979161
-
Quantitative comparison of FMR1 gene expression in normal and premutation alleles
-
Feng, Y., Lakkis, L. and Devys, D.W.S.T. (1995a) Quantitative comparison of FMR1 gene expression in normal and premutation alleles. Am. J. Hum. Genet., 56, 106-113.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 106-113
-
-
Feng, Y.1
Lakkis, L.2
Devys, D.W.S.T.3
-
13
-
-
0028989063
-
Translational suppression by trinucleotide repeat expansion at FMR1
-
Feng, Y., Zhang, F., Lokey, L.K. et al. (1995b) Translational suppression by trinucleotide repeat expansion at FMR1. Science, 268, 731-734.
-
(1995)
Science
, vol.268
, pp. 731-734
-
-
Feng, Y.1
Zhang, F.2
Lokey, L.K.3
-
14
-
-
0022606335
-
The female and the fragile X: A study of 144 obligate female carriers
-
Fryns, J-P. (1986) The female and the fragile X: a study of 144 obligate female carriers. Am. J. Med. Genet., 23, 157-169.
-
(1986)
Am. J. Med. Genet.
, vol.23
, pp. 157-169
-
-
Fryns, J.-P.1
-
15
-
-
0026907552
-
Fragile X syndrome without CCG amplification has an FMR1 deletion
-
Gedeon, A.K., Baker, E., Robinson, H. et al. (1992) Fragile X syndrome without CCG amplification has an FMR1 deletion. Nat. Genet., 1, 341-344.
-
(1992)
Nat. Genet.
, vol.1
, pp. 341-344
-
-
Gedeon, A.K.1
Baker, E.2
Robinson, H.3
-
16
-
-
0001098508
-
Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome
-
Hinds, H.L., Ashley, C.L., Sutcliffe, J.S. et al. (1993) Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome. Nat. Genet., 2, 197-200.
-
(1993)
Nat. Genet.
, vol.2
, pp. 197-200
-
-
Hinds, H.L.1
Ashley, C.L.2
Sutcliffe, J.S.3
-
17
-
-
0030580604
-
Sequence specific binding of cytosolic proteins to a 12 nucleotide sequence in the 5′ untranslated region of the FMR1 mRNA
-
Iber, H. (1996) Sequence specific binding of cytosolic proteins to a 12 nucleotide sequence in the 5′ untranslated region of the FMR1 mRNA. Biochim. Biophys. Acta, 1309, 167-173.
-
(1996)
Biochim. Biophys. Acta
, vol.1309
, pp. 167-173
-
-
Iber, H.1
-
18
-
-
0027173002
-
Population studies of the fragile X: A molecular approach
-
Jacobs, P.A., Bullman, H., MacPherson, J. et al. (1993) Population studies of the fragile X: a molecular approach. J. Med. Genet., 30, 454-459.
-
(1993)
J. Med. Genet.
, vol.30
, pp. 454-459
-
-
Jacobs, P.A.1
Bullman, H.2
MacPherson, J.3
-
19
-
-
0029042740
-
A heterogeneous set of FMR1 proteins is widely distributed in mouse tissues and is modulated in cell culture
-
Khandjian, E.W., Fortin, A., Thibeau, A. et al. (1995) A heterogeneous set of FMR1 proteins is widely distributed in mouse tissues and is modulated in cell culture. Hum. Mol. Genet., 4, 783-789.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 783-789
-
-
Khandjian, E.W.1
Fortin, A.2
Thibeau, A.3
-
20
-
-
0023250423
-
Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome
-
Krauss, C.M., Turksoy, N., Atkins, L. et al. (1987) Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome. N. Eng. Med. J., 317, 125-131.
-
(1987)
N. Eng. Med. J.
, vol.317
, pp. 125-131
-
-
Krauss, C.M.1
Turksoy, N.2
Atkins, L.3
-
21
-
-
0021707831
-
Familial premature ovarian failure
-
Mattison, D.R., Evans, M.I., Schwimmer, M.B. et al. (1984) Familial premature ovarian failure. Am. J. Hum. Genet., 36, 1341-1348.
-
(1984)
Am. J. Hum. Genet.
, vol.36
, pp. 1341-1348
-
-
Mattison, D.R.1
Evans, M.I.2
Schwimmer, M.B.3
-
22
-
-
0028267736
-
A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome
-
Meijer, H., de Graaff, E., Merckx, D.M.L. et al. (1994) A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome. Hum. Mol. Genet., 3, 615-620.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 615-620
-
-
Meijer, H.1
De Graaff, E.2
Merckx, D.M.L.3
-
23
-
-
8044254656
-
The role of size and haplotype in the stability of FRAXA and FRAXE alleles during transmission
-
Murray, A., Macpherson, J.N., Pound, M.C. et al. (1997) The role of size and haplotype in the stability of FRAXA and FRAXE alleles during transmission. Hum. Mol. Genet., 6, 173-185.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 173-185
-
-
Murray, A.1
Macpherson, J.N.2
Pound, M.C.3
-
24
-
-
0031857007
-
Studies of FRAXA and FRAXE in women with premature ovarian failure
-
in press
-
Murray, A., Webb, J., Grimley, S. et al. (1998) Studies of FRAXA and FRAXE in women with premature ovarian failure. J. Med. Genet., in press.
-
(1998)
J. Med. Genet.
-
-
Murray, A.1
Webb, J.2
Grimley, S.3
-
25
-
-
0029931540
-
Confirmation of early menopause in fragile X carriers
-
Partington, M.W., Moore, D.Y. and Turner, G.M. (1996) Confirmation of early menopause in fragile X carriers. Am. J. Med. Genet., 64, 370-372.
-
(1996)
Am. J. Med. Genet.
, vol.64
, pp. 370-372
-
-
Partington, M.W.1
Moore, D.Y.2
Turner, G.M.3
-
26
-
-
0028087750
-
Molecular and cytogenetic studies of an X autosome translocation in a patient with premature ovarian failure and review of the literature
-
Powell, CM., Taggart, R.T., Drumheller, T.C. et al. (1994) Molecular and cytogenetic studies of an X autosome translocation in a patient with premature ovarian failure and review of the literature. Am. J. Med. Genet., 52, 19-26.
-
(1994)
Am. J. Med. Genet.
, vol.52
, pp. 19-26
-
-
Powell, C.M.1
Taggart, R.T.2
Drumheller, T.C.3
-
27
-
-
0028936072
-
An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene
-
Quan, F., Zonana, J., Gunter, K. et al. (1995) An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene. Am. J. Hum. Genet., 56, 1042-1051.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 1042-1051
-
-
Quan, F.1
Zonana, J.2
Gunter, K.3
-
28
-
-
0027261456
-
Fragile X syndrome unstable element, p(CCG)n, and other simple tandem repeat sequences are binding sites for specific nuclear proteins
-
Richards, R.I., Holman, K., Yu, S. and Sutherland, G.R. (1993) Fragile X syndrome unstable element, p(CCG)n, and other simple tandem repeat sequences are binding sites for specific nuclear proteins. Hum. Mol. Genet., 2, 1429-1435.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1429-1435
-
-
Richards, R.I.1
Holman, K.2
Yu, S.3
Sutherland, G.R.4
-
29
-
-
0025952727
-
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
-
Rousseau, F., Heitz, D., Biancalana, V. et al. (1991) Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N. Engl. J. Med., 325, 1673-1681.
-
(1991)
N. Engl. J. Med.
, vol.325
, pp. 1673-1681
-
-
Rousseau, F.1
Heitz, D.2
Biancalana, V.3
-
30
-
-
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, M.L. et al. (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
-
31
-
-
0028237295
-
Obstetrical and gynecological complications in Fragile X carriers: A multicenter study
-
Schwartz, C.E., Dean, J., Howard-Peebles, P.N. et al. (1994) Obstetrical and gynecological complications in Fragile X carriers: a multicenter study. Am. J. Med. Genet., 51, 400-402.
-
(1994)
Am. J. Med. Genet.
, vol.51
, pp. 400-402
-
-
Schwartz, C.E.1
Dean, J.2
Howard-Peebles, P.N.3
-
32
-
-
0028246435
-
FMR1 knockout mice: A model to study mental retardation
-
The Dutch-Belgian Fragile X Consortium (1994) FMR1 knockout mice: a model to study mental retardation. Cell, 78, 23-33.
-
(1994)
Cell
, vol.78
, pp. 23-33
-
-
-
33
-
-
0027985106
-
Dizygous twinning and premature menopause in fragile X syndrome
-
Turner, G., Robinson, H., Wake, S. and Martin, N. (1994) Dizygous twinning and premature menopause in fragile X syndrome. Lancet, 344, 1500.
-
(1994)
Lancet
, vol.344
, pp. 1500
-
-
Turner, G.1
Robinson, H.2
Wake, S.3
Martin, N.4
-
34
-
-
0027409764
-
Alternative splicing in the fragile X gene FMR1
-
Verkerk, A.J.M.H., de Graaff, E., de Boulle, K. et al. (1993) Alternative splicing in the fragile X gene FMR1. Hum. Mol. Genet., 4, 399-404.
-
(1993)
Hum. Mol. Genet.
, vol.4
, pp. 399-404
-
-
Verkerk, A.J.M.H.1
De Graaff, E.2
De Boulle, K.3
-
35
-
-
0030015141
-
FRAXA premutation associated with premature ovarian failure
-
Vianna-Morgante, A.M., Costa, S.S., Pares, A.S. and Verreschi, I.T. (1996) FRAXA premutation associated with premature ovarian failure. Am. J. Med. Genet., 64, 373-375.
-
(1996)
Am. J. Med. Genet.
, vol.64
, pp. 373-375
-
-
Vianna-Morgante, A.M.1
Costa, S.S.2
Pares, A.S.3
Verreschi, I.T.4
-
36
-
-
0026781016
-
A microdeletion of less than 250 kb, including the proximal part of the FMR-1 gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome
-
Wohrle, D., Kotzot, D., Hirst, M.C. et al. (1992) A microdeletion of less than 250 kb, including the proximal part of the FMR-1 gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome. Am. J. Hum. Genet., 51, 299-306.
-
(1992)
Am. J. Hum. Genet.
, vol.51
, pp. 299-306
-
-
Wohrle, D.1
Kotzot, D.2
Hirst, M.C.3
|