-
1
-
-
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, Holden JJA, Yang KT, Lee C, Hudson R, Gorwill H, Nolin SL, Glicksman A, Jenkins EC, Brown WT, Howard-Peebles PN, Becchi C, Cummings E, Fallon L, Seitz S, Black SH, Vianna-Morgante AM, Costa SS, Otto PA, Mingroni-Netto RC, Murray A, Webb J, MacSwinney F, Dennis N, Jacobs PA, Syrrou M, Georgiou I, Patsalis PC, Giovannucci Uzielli ML, Guarducci S, Lapi E, Cecconi A, Ricci U, Ricotti G, Biondi C, Scarselli B, Vieri F. 1999. 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 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
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 Uzielli, 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..
-
2
-
-
0037216495
-
45,X/46,XY mosaicism and fragile X syndrome
-
Banes SL, Begleiter ML, Butler MG. 2002. 45,X/46,XY mosaicism and fragile X syndrome. Am J Med Genet 116A:99-100.
-
(2002)
Am J Med Genet
, vol.116 A
, pp. 99-100
-
-
Banes, S.L.1
Begleiter, M.L.2
Butler, M.G.3
-
3
-
-
0027272876
-
46XY/47XYY mosaicism and fragile X
-
Bodurtha J, Jackson-Cook C, Maddalena A, Piserchio J, Waller R. 1993. 46XY/47XYY mosaicism and fragile X. Clin Genet 44:109-110.
-
(1993)
Clin Genet
, vol.44
, pp. 109-110
-
-
Bodurtha, J.1
Jackson-Cook, C.2
Maddalena, A.3
Piserchio, J.4
Waller, R.5
-
4
-
-
0023234151
-
A case of mosaicism with fragile-X and XXY components
-
Deb S, Cowie V, Timberlake C. 1987. A case of mosaicism with fragile-X and XXY components. Br J Psychiatry 150:700-702.
-
(1987)
Br J Psychiatry
, vol.150
, pp. 700-702
-
-
Deb, S.1
Cowie, V.2
Timberlake, C.3
-
5
-
-
0023695770
-
The concurrence of Klinefelter syndrome and fragile X syndrome
-
Fryns J, Van dBH. 1988. The concurrence of Klinefelter syndrome and fragile X syndrome. Am J Med Genet 30:109-113.
-
(1988)
Am J Med Genet
, vol.30
, pp. 109-113
-
-
Fryns, J.1
Van, D.B.H.2
-
6
-
-
0021068646
-
XY/XXY mosaicism and fragile X syndrome
-
Fryns J, Kleczkowska A, Kubien E, Petit P, Haspeslagh M, Lindemans I, Van DBH. 1983. XY/XXY mosaicism and fragile X syndrome. Ann Genet 26:251-253.
-
(1983)
Ann Genet
, vol.26
, pp. 251-253
-
-
Fryns, J.1
Kleczkowska, A.2
Kubien, E.3
Petit, P.4
Haspeslagh, M.5
Lindemans, I.6
Van, D.B.H.7
-
7
-
-
0034849367
-
The female and the fragile X reviewed
-
Kenneson A, Warren S. 2001. The female and the fragile X reviewed. Semin Reprod Med 19:159-165.
-
(2001)
Semin Reprod Med
, vol.19
, pp. 159-165
-
-
Kenneson, A.1
Warren, S.2
-
8
-
-
0023196816
-
45,X/46,XY mosaicism. A clinical review and report of ten cases
-
Knudtzon J, Aarskog D. 1987. 45,X/46,XY mosaicism. A clinical review and report of ten cases. Eur J Pediatr 146:266-271.
-
(1987)
Eur J Pediatr
, vol.146
, pp. 266-271
-
-
Knudtzon, J.1
Aarskog, D.2
-
9
-
-
0026019556
-
Origin of the supernumerary X chromosome in a patient with fragile X and Klinefelter syndrome
-
Kupke KG, Soreng AL, Muller U. 1991. Origin of the supernumerary X chromosome in a patient with fragile X and Klinefelter syndrome. Am J Med Genet 38:440-444.
-
(1991)
Am J Med Genet
, vol.38
, pp. 440-444
-
-
Kupke, K.G.1
Soreng, A.L.2
Muller, U.3
-
10
-
-
0029999485
-
The frequency of chromosomal abnormalities in patients referred for fragile X analysis
-
Mark H, Bier J, Scola P. 1996. The frequency of chromosomal abnormalities in patients referred for fragile X analysis. Ann Clin Lab Sci 26:323-328.
-
(1996)
Ann Clin Lab Sci
, vol.26
, pp. 323-328
-
-
Mark, H.1
Bier, J.2
Scola, P.3
-
11
-
-
0027216138
-
Mixed gonadal dysgenesis: Clinical, cytogenetic, endocrinological, and histopathological findings in 16 patients
-
Mendez J, Ulloa-Aguirre A, Kofman-Alfaro S, Mutchinick O, Fernandez-delCastillo C, Reyes E, Perez-Palacios G. 1993. Mixed gonadal dysgenesis: Clinical, cytogenetic, endocrinological, and histopathological findings in 16 patients. Am J Med Genet 46:263-267.
-
(1993)
Am J Med Genet
, vol.46
, pp. 263-267
-
-
Mendez, J.1
Ulloa-Aguirre, A.2
Kofman-Alfaro, S.3
Mutchinick, O.4
Fernandez-delCastillo, C.5
Reyes, E.6
Perez-Palacios, G.7
-
12
-
-
0027510413
-
46,XY/47,XYY male with the fragile X syndrome: Cytogenetic and molecular studies
-
Milunsky A, Huang X, Amos J, Herskowitz J, Farrer L, Wyandt H. 1993. 46,XY/47,XYY male with the fragile X syndrome: Cytogenetic and molecular studies. Am J Med Genet 45:589-593.
-
(1993)
Am J Med Genet
, vol.45
, pp. 589-593
-
-
Milunsky, A.1
Huang, X.2
Amos, J.3
Herskowitz, J.4
Farrer, L.5
Wyandt, H.6
-
13
-
-
0028341336
-
Asymmetry of methylation with FMR-1 full mutation in two 45,X/46,XX mosaic females associated with normal intellect
-
Shapiro L, Simensen R, Wilmot P, Fisch G, Vibert B, Fenwick R, Tarleton J, Phelan M. 1994. Asymmetry of methylation with FMR-1 full mutation in two 45,X/46,XX mosaic females associated with normal intellect. Am J Med Genet 51:507-508.
-
(1994)
Am J Med Genet
, vol.51
, pp. 507-508
-
-
Shapiro, L.1
Simensen, R.2
Wilmot, P.3
Fisch, G.4
Vibert, B.5
Fenwick, R.6
Tarleton, J.7
Phelan, M.8
-
14
-
-
0347953683
-
Hermaphroditism with "atypical" or "mixed" gonadal dysgenesis
-
Sohval A. 1964. Hermaphroditism with "atypical" or "mixed" gonadal dysgenesis. Am J Med 36:281-292.
-
(1964)
Am J Med
, vol.36
, pp. 281-292
-
-
Sohval, A.1
-
15
-
-
0033751977
-
Prenatal diagnosis of fragile X and Turner mosaicism in a 12-week fetus
-
Wilkin H, Tuohy J, Theewis W. 2000. Prenatal diagnosis of fragile X and Turner mosaicism in a 12-week fetus. Prenat Diagn 20:854-855.
-
(2000)
Prenat Diagn
, vol.20
, pp. 854-855
-
-
Wilkin, H.1
Tuohy, J.2
Theewis, W.3
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