-
1
-
-
2342635196
-
The fragile X premutation: A maturing perspective
-
Hagerman PJ, Hagerman RJ. The fragile X premutation: a maturing perspective. Am J Hum Genet 2004; 74:805-816.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 805-816
-
-
Hagerman, P.J.1
Hagerman, R.J.2
-
2
-
-
34247169864
-
Preimplantation genetic diagnosis for fragile X syndrome using multiplex nested PCR
-
Malcov M, Naiman T, Yosef DB, et al. Preimplantation genetic diagnosis for fragile X syndrome using multiplex nested PCR. Reprod Biomed Online 2007; 14:515-521.
-
(2007)
Reprod Biomed Online
, vol.14
, pp. 515-521
-
-
Malcov, M.1
Naiman, T.2
Yosef, D.B.3
-
3
-
-
0037320928
-
Expansion of the fragile X CGG repeat in females with premutations or intermediate alleles
-
Nolin SL, Brown WT, Glicksman A, et al. Expansion of the fragile X CGG repeat in females with premutations or intermediate alleles. Am J Hum Genet 2003; 72:454-464.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 454-464
-
-
Nolin, S.L.1
Brown, W.T.2
Glicksman, A.3
-
4
-
-
0026339303
-
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
-
Oberle I, Rousseau F, Heitz D, et al. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 1991; 252:1097-1102.
-
(1991)
Science
, vol.252
, pp. 1097-1102
-
-
Oberle, I.1
Rousseau, F.2
Heitz, D.3
-
5
-
-
0025905795
-
Identification of a gene (FMR-1) containing a CGG repeat coincident with the breakpoint cluster region exhibiting length variation in fragile X syndrome
-
Verkerk AJ, Pieretti M, Sutcliffe JS, et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with the breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991; 65:905-914.
-
(1991)
Cell
, vol.65
, pp. 905-914
-
-
Verkerk, A.J.1
Pieretti, M.2
Sutcliffe, J.S.3
-
6
-
-
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 1991; 67:1047-1058.
-
(1991)
Cell
, vol.67
, pp. 1047-1058
-
-
Fu, Y.H.1
Kuhl, D.P.2
Pizzuti, A.3
-
7
-
-
0027377580
-
FMR1 protein: Conserved RNP family domains and selective RNA binding
-
Ashley CT, Wilkinson KD, Reines D, Warren ST. FMR1 protein: conserved RNP family domains and selective RNA binding. Science 1993; 262:563-566.
-
(1993)
Science
, vol.262
, pp. 563-566
-
-
Ashley, C.T.1
Wilkinson, K.D.2
Reines, D.3
Warren, S.T.4
-
8
-
-
34447293282
-
X chromosome and ovarian failure
-
This is a study that describes the relationship between various abnormalities in the X chromosome and their relationship to ovarian failure
-
Tonziola D, Rizziolio F. X chromosome and ovarian failure. Semin Reprod Med 2007; 25:264-271. This is a study that describes the relationship between various abnormalities in the X chromosome and their relationship to ovarian failure.
-
(2007)
Semin Reprod Med
, vol.25
, pp. 264-271
-
-
Tonziola, D.1
Rizziolio, F.2
-
9
-
-
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, et al. 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
-
10
-
-
0035394437
-
Reduced FRMP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and permutation carriers
-
Kenneson A, Zhang F, Hagedorn CH, Warren ST. Reduced FRMP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and permutation carriers. Hum Mol Genet 2001; 10:1449-1454.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1449-1454
-
-
Kenneson, A.1
Zhang, F.2
Hagedorn, C.H.3
Warren, S.T.4
-
13
-
-
0031025986
-
Fragile X syndrome is less common than previously estimated
-
Morton JE, Bundey S, Webb TP, et al. Fragile X syndrome is less common than previously estimated. J Med Genet 1997; 34:1-5.
-
(1997)
J Med Genet
, vol.34
, pp. 1-5
-
-
Morton, J.E.1
Bundey, S.2
Webb, T.P.3
-
14
-
-
33745620229
-
338. Screening for fragile X syndrome
-
ACOG, Committee Opinion
-
ACOG, Committee Opinion, 338. Screening for fragile X syndrome. Obstet Gynecol 2006; 107:1483-1485.
-
(2006)
Obstet Gynecol
, vol.107
, pp. 1483-1485
-
-
-
15
-
-
0033906467
-
Screening for fragile X syndrome in women of reproductive age
-
Pesso R, Berkenstadt M, Cuckle H, et al. Screening for fragile X syndrome in women of reproductive age. Prenat Diagn 2000; 20:611-614.
-
(2000)
Prenat Diagn
, vol.20
, pp. 611-614
-
-
Pesso, R.1
Berkenstadt, M.2
Cuckle, H.3
-
16
-
-
0034917943
-
Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel
-
Toledano-Alhadef H, Basel-Vanagaite L, Magal N, et al. Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel. Am J Hum Genet 2001; 69:351-360.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 351-360
-
-
Toledano-Alhadef, H.1
Basel-Vanagaite, L.2
Magal, N.3
-
18
-
-
0036591683
-
The fragile X premutation: Into the phenotypic fold
-
Hagerman RJ, Hagerman P. The fragile X premutation: into the phenotypic fold. Curr Opin Genet Dev 2002; 12:278-283.
-
(2002)
Curr Opin Genet Dev
, vol.12
, pp. 278-283
-
-
Hagerman, R.J.1
Hagerman, P.2
-
19
-
-
0027674521
-
The neurocognitive phenotype of female carriers of fragile X: Additional evidence for specificity
-
Mazzocco MM, Pennington BF, Hagerman RJ. The neurocognitive phenotype of female carriers of fragile X: additional evidence for specificity. J Dev Behav Pediatr 1993; 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
-
20
-
-
0027482074
-
Neurobehavioral effects of the fragile X premutation in adult women: A controlled study
-
Reiss AL, Freund L, Abrams MT, et al. Neurobehavioral effects of the fragile X premutation in adult women: a controlled study. Am J Hum Genet 1993; 52:884-894.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 884-894
-
-
Reiss, A.L.1
Freund, L.2
Abrams, M.T.3
-
21
-
-
34547813683
-
Examination of reproductive aging milestones among women who carry the FMR1 premutation
-
This a study evaluating molecular mechanisms that explain the altered reproductive aging milestones among women with the FMR1 premutation
-
Allen EG, Sullivan AK, Marcus M, et al. Examination of reproductive aging milestones among women who carry the FMR1 premutation. Hum Reprod 2007; 22:2142-2152. This a study evaluating molecular mechanisms that explain the altered reproductive aging milestones among women with the FMR1 premutation.
-
(2007)
Hum Reprod
, vol.22
, pp. 2142-2152
-
-
Allen, E.G.1
Sullivan, A.K.2
Marcus, M.3
-
22
-
-
33947168860
-
The FMR1 premutation and reproduction
-
This is a thorough review that examines the relationship between the FMR1 premutation and the altered ovarian function and reproduction
-
Wittenberger MD, Hagerman RJ, Sherman SL, et al. The FMR1 premutation and reproduction. Fertil Steril 2007; 87:456-465. This is a thorough review that examines the relationship between the FMR1 premutation and the altered ovarian function and reproduction.
-
(2007)
Fertil Steril
, vol.87
, pp. 456-465
-
-
Wittenberger, M.D.1
Hagerman, R.J.2
Sherman, S.L.3
-
23
-
-
0027715424
-
Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and female gonad
-
Bachner D, Manca A, Steinbach P, et al. Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and female gonad. Hum Mol Genet 1993; 2:2043-2050.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 2043-2050
-
-
Bachner, D.1
Manca, A.2
Steinbach, P.3
-
24
-
-
0347417909
-
Immunohistochemical FMRP studies in a full mutated female fetus
-
Rife M, Nadal A, Mila M, Willemsen R. Immunohistochemical FMRP studies in a full mutated female fetus. Am J Med Genet 2004; 124A:129-132.
-
(2004)
Am J Med Genet
, vol.124 A
, pp. 129-132
-
-
Rife, M.1
Nadal, A.2
Mila, M.3
Willemsen, R.4
-
26
-
-
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
-
27
-
-
23944493381
-
FMR 1 repeats sizes in the gray zone and high end of the normal range are associated with premature ovarian failure
-
Bretherek KL, Fluker MR, Robinson WP. FMR 1 repeats sizes in the gray zone and high end of the normal range are associated with premature ovarian failure. Hum Genet 2005; 117:376-382.
-
(2005)
Hum Genet
, vol.117
, pp. 376-382
-
-
Bretherek, K.L.1
Fluker, M.R.2
Robinson, W.P.3
-
28
-
-
33645314905
-
Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation
-
Bodega B, Bione S, Dalpra L, et al. Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation. Hum Reprod 2006; 21:952-957.
-
(2006)
Hum Reprod
, vol.21
, pp. 952-957
-
-
Bodega, B.1
Bione, S.2
Dalpra, L.3
-
29
-
-
0033912299
-
Imprinting effect on premature ovarian failure confined to paternally inherited fragile X permutations
-
Hundscheid RD, Sistermans EA, Thomas CM, et al. Imprinting effect on premature ovarian failure confined to paternally inherited fragile X permutations. Am J Hum Genet 2000; 66:413-418.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 413-418
-
-
Hundscheid, R.D.1
Sistermans, E.A.2
Thomas, C.M.3
-
30
-
-
0034128910
-
Reproductive and menstrual history of females with fragile X expansions
-
Murray A, Ennis S, Macswiney F, et al. Reproductive and menstrual history of females with fragile X expansions. Eur J Hum Genet 2000; 8:247-325.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 247-325
-
-
Murray, A.1
Ennis, S.2
Macswiney, F.3
-
31
-
-
14044268841
-
Association of FMR1 repeat size with ovarian dysfunction
-
Sullivan AK, Marcus M, Epstein MP, et al. Association of FMR1 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
-
32
-
-
0031809893
-
Fragile X premutation screening in women with premature ovarian failure
-
Conway GS, Payne NN, Webb J, et al. Fragile X premutation screening in women with premature ovarian failure. Hum Reprod 1998; 13:1184-1187.
-
(1998)
Hum Reprod
, vol.13
, pp. 1184-1187
-
-
Conway, G.S.1
Payne, N.N.2
Webb, J.3
-
33
-
-
34547788785
-
FMR1 premutation: A leading cause of inherited ovarian dysfunction
-
Arrieta I, Penagarikano O, Telez M, editors, Nova Science Publishers;
-
Sherman SL, Taylor K, Allen EG. FMR1 premutation: a leading cause of inherited ovarian dysfunction. In: Arrieta I, Penagarikano O, Telez M, editors. Fragile sites: new discoveries and changing perspectives. Nova Science Publishers; 2007.
-
(2007)
Fragile sites: New discoveries and changing perspectives
-
-
Sherman, S.L.1
Taylor, K.2
Allen, E.G.3
-
34
-
-
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
-
35
-
-
4544294975
-
Evidence of early ovarian aging in fragile X mutation carriers
-
Welt CK, Smith PC, Taylor AE. Evidence of early ovarian aging in fragile X mutation carriers. J Clin Endocrinol Metab 2004; 89:4569-4574.
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 4569-4574
-
-
Welt, C.K.1
Smith, P.C.2
Taylor, A.E.3
-
36
-
-
0027985106
-
Dizygous twinning and premature menopause in fragile X syndrome
-
Turner G, Robinson H, Wake S, Martin N. Dizygous twinning and premature menopause in fragile X syndrome. Lancet 1994; 344:1500.
-
(1994)
Lancet
, vol.344
, pp. 1500
-
-
Turner, G.1
Robinson, H.2
Wake, S.3
Martin, N.4
-
37
-
-
0033515675
-
Twinning and premature ovarian failure in premutation fragile X carriers
-
Vianna-Morgante AM. Twinning and premature ovarian failure in premutation fragile X carriers. Am J Med Genet 1999; 83:326.
-
(1999)
Am J Med Genet
, vol.83
, pp. 326
-
-
Vianna-Morgante, A.M.1
-
38
-
-
43149084791
-
The female and the fragile X: A study of 144 obligate female carriers
-
Frynes JP. The female and the fragile X: a study of 144 obligate female carriers. Am J Med Genet 1986; 14:253-255.
-
(1986)
Am J Med Genet
, vol.14
, pp. 253-255
-
-
Frynes, J.P.1
-
40
-
-
19244362362
-
Familial transmission of the FMR 1 CGG repeat
-
Nolin SL, Lewis FA III, Ye LL, et al. Familial transmission of the FMR 1 CGG repeat. Am J Hum Genet 1996; 59:1252-1261.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 1252-1261
-
-
Nolin, S.L.1
Lewis III, F.A.2
Ye, L.L.3
-
41
-
-
31344455020
-
Nonlinear association between CGG repeat number and the age of menopause in FMR1 premutation carriers
-
Ennis S, Ward D, Murray A. Nonlinear association between CGG repeat number and the 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
-
42
-
-
23244439758
-
Genetic counseling for fragile X syndrome: Updated recommendations of the National Society of Genetic Counselors
-
McConkie-Rosell A, Finucane B, Cronister A, et al. Genetic counseling for fragile X syndrome: updated recommendations of the National Society of Genetic Counselors. J Genet Couns 2005; 14:249-270.
-
(2005)
J Genet Couns
, vol.14
, pp. 249-270
-
-
McConkie-Rosell, A.1
Finucane, B.2
Cronister, A.3
-
43
-
-
0027288903
-
The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm
-
Reyniers E, Vits L, De BK, et al. The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm. Nat Genet 1993; 4:143-146.
-
(1993)
Nat Genet
, vol.4
, pp. 143-146
-
-
Reyniers, E.1
Vits, L.2
De, B.K.3
-
44
-
-
0032715145
-
Premature ovarian failure: A systematic review on therapeutic interventions to restore ovarian function and achieve pregnancy
-
Van Kasteren YM, Shoemaker J. Premature ovarian failure: a systematic review on therapeutic interventions to restore ovarian function and achieve pregnancy. Hum Reprod Update 1999; 5:483-492.
-
(1999)
Hum Reprod Update
, vol.5
, pp. 483-492
-
-
Van Kasteren, Y.M.1
Shoemaker, J.2
-
45
-
-
27644465583
-
A woman with spontaneous premature ovarian failure gives birth to a child with fragile X syndrome
-
Corrigan EC, Raygada MJ, Vanderhoof VH, Newlson LM. A woman with spontaneous premature ovarian failure gives birth to a child with fragile X syndrome. Fertil Steril 2005; 84:1508.
-
(2005)
Fertil Steril
, vol.84
, pp. 1508
-
-
Corrigan, E.C.1
Raygada, M.J.2
Vanderhoof, V.H.3
Newlson, L.M.4
-
46
-
-
33746877131
-
Erectile dysfunction in fragile X patients
-
Gu F, Xhang HY, Hu SY, et al. Erectile dysfunction in fragile X patients. Asian J Androl 2006; 8:483-487.
-
(2006)
Asian J Androl
, vol.8
, pp. 483-487
-
-
Gu, F.1
Xhang, H.Y.2
Hu, S.Y.3
-
47
-
-
2942532624
-
The Drosophila fragile X-related gene regulates axoneme differentiation during spermatogenesis
-
Zhang YQ, Matthies HJ, Mancuso J, et al. The Drosophila fragile X-related gene regulates axoneme differentiation during spermatogenesis. Dev Biol 2004; 270:290-307.
-
(2004)
Dev Biol
, vol.270
, pp. 290-307
-
-
Zhang, Y.Q.1
Matthies, H.J.2
Mancuso, J.3
-
48
-
-
0023351610
-
Spermatogenesis in two patients with fragile X syndrome. I. Histology: Light and electron microscopy
-
Johannison R, Rehder H, Wendt V, Schwinger E. Spermatogenesis in two patients with fragile X syndrome. I. Histology: light and electron microscopy. Hum Genet 1987; 76:141-147.
-
(1987)
Hum Genet
, vol.76
, pp. 141-147
-
-
Johannison, R.1
Rehder, H.2
Wendt, V.3
Schwinger, E.4
-
49
-
-
0033402877
-
Preimplantation genetic diagnosis for fragile X syndrome based on the detection of the nonexpanded paternal and maternal CGG
-
Sermon K, Seneca S, Vanderfaeilliw A, et al. Preimplantation genetic diagnosis for fragile X syndrome based on the detection of the nonexpanded paternal and maternal CGG. Prenat Diagn 1999; 19:1223-1230.
-
(1999)
Prenat Diagn
, vol.19
, pp. 1223-1230
-
-
Sermon, K.1
Seneca, S.2
Vanderfaeilliw, A.3
-
50
-
-
0034921796
-
Preimplantation genetic diagnosis of the fragile X syndrome by use of linked polymorphic markers
-
Apessos A, Abou-Sleiman PM, Harper JC, Delhanty JD. Preimplantation genetic diagnosis of the fragile X syndrome by use of linked polymorphic markers. Prenat Diagn 2001; 21:504-511.
-
(2001)
Prenat Diagn
, vol.21
, pp. 504-511
-
-
Apessos, A.1
Abou-Sleiman, P.M.2
Harper, J.C.3
Delhanty, J.D.4
-
51
-
-
0036852828
-
Preimplantation genetic diagnosis for fragile Xa syndrome: Difficult but not impossible
-
Platteau P, Sermon K, Seneca S, et al. Preimplantation genetic diagnosis for fragile Xa syndrome: difficult but not impossible. Hum Reprod 2002; 17:2807-2812.
-
(2002)
Hum Reprod
, vol.17
, pp. 2807-2812
-
-
Platteau, P.1
Sermon, K.2
Seneca, S.3
-
52
-
-
33750211837
-
Multiple displacement amplification improves PGD for fragile X syndrome
-
Burlet P, Frydman N, Gigarel N, et al. Multiple displacement amplification improves PGD for fragile X syndrome. Mol Hum Reprod 2006; 12:647-652.
-
(2006)
Mol Hum Reprod
, vol.12
, pp. 647-652
-
-
Burlet, P.1
Frydman, N.2
Gigarel, N.3
-
53
-
-
18444405832
-
Preimplantation genetic diagnosis for single gene disorders: Experience with five single gene disorders
-
Harper JC, Wells D, Piyamongkol W, et al. Preimplantation genetic diagnosis for single gene disorders: experience with five single gene disorders. Prenat Diagn 2002; 22:525-533.
-
(2002)
Prenat Diagn
, vol.22
, pp. 525-533
-
-
Harper, J.C.1
Wells, D.2
Piyamongkol, W.3
-
54
-
-
0033842601
-
The Brussels experience of more than 5 years of clinical preimplantation genetic diagnosis
-
Vandervorst M, Staessen C, Sermon K, et al. The Brussels experience of more than 5 years of clinical preimplantation genetic diagnosis. Hum Reprod Update 2000; 6:364-373.
-
(2000)
Hum Reprod Update
, vol.6
, pp. 364-373
-
-
Vandervorst, M.1
Staessen, C.2
Sermon, K.3
-
55
-
-
0031753720
-
Successful preimplantation genetic diagnosis is related to the number of cumulus-oocyte complexes
-
Vandervorst M, Liebaers I, Sermon K, et al. Successful preimplantation genetic diagnosis is related to the number of cumulus-oocyte complexes. Hum Reprod 1998; 13:3169-3176.
-
(1998)
Hum Reprod
, vol.13
, pp. 3169-3176
-
-
Vandervorst, M.1
Liebaers, I.2
Sermon, K.3
|