-
1
-
-
0345719267
-
Enhanced expression of murine FMR-1 mRNA during germ cell proliferation suggests a tissue-specific function of FMR-1 in both the male and the female gonad
-
Palm Cove, Queensland, Australia
-
Bachner D, Manca A, Steinbach P, Wohrle D, Just W, Vogel W, Hameister H, Poustka A. 1993. Enhanced expression of murine FMR-1 mRNA during germ cell proliferation suggests a tissue-specific function of FMR-1 in both the male and the female gonad. 6th International Workshop on the Fragile X and X-linked Mental Retardation. Palm Cove, Queensland, Australia.
-
(1993)
6th International Workshop on the Fragile X and X-linked Mental Retardation
-
-
Bachner, D.1
Manca, A.2
Steinbach, P.3
Wohrle, D.4
Just, W.5
Vogel, W.6
Hameister, H.7
Poustka, A.8
-
2
-
-
0025059366
-
Distal long arm deletions of the X chromosome and ovarian failure
-
Bates A, Howard PJ. 1990. Distal long arm deletions of the X chromosome and ovarian failure. J Med Genet 27:722-723.
-
(1990)
J Med Genet
, vol.27
, pp. 722-723
-
-
Bates, A.1
Howard, P.J.2
-
3
-
-
0006730002
-
Preimplantation genetic testing (PGT) for fragile X
-
Abstract
-
Black SH, Levinson G, Harton GL, Palmer FT, Sisson ME, Schoener C, Nance E, Fugger EF, Fields RA. 1995. Preimplantation genetic testing (PGT) for fragile X. Am J Hum Genet 57:4 (Abstract).
-
(1995)
Am J Hum Genet
, vol.57
, pp. 4
-
-
Black, S.H.1
Levinson, G.2
Harton, G.L.3
Palmer, F.T.4
Sisson, M.E.5
Schoener, C.6
Nance, E.7
Fugger, E.F.8
Fields, R.A.9
-
4
-
-
0027375451
-
Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test
-
Brown WT, Houck GE, Jeziorowska A, Levinson FN, Xiaohna D, Dobkin C, Zhong N, Henderson J, Brooks SS, Jenkins EC. 1993. Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test. JAMA 270:1569-1575.
-
(1993)
JAMA
, vol.270
, pp. 1569-1575
-
-
Brown, W.T.1
Houck, G.E.2
Jeziorowska, A.3
Levinson, F.N.4
Xiaohna, D.5
Dobkin, C.6
Zhong, N.7
Henderson, J.8
Brooks, S.S.9
Jenkins, E.C.10
-
6
-
-
0029097960
-
Fragile X premutations in familial premature ovarian failure
-
Conway GS, Hettiarachchi S, Murray A, Jacobs PA. 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
-
7
-
-
0025967195
-
Heterozygous fragile X female: Historical, physical, cognitive, and cytogenetic features
-
Cronister A, Schreiner R, Wittenberger M, Amiri K, Harris K, Hagerman RJ. 1991. Heterozygous fragile X female: historical, physical, cognitive, and cytogenetic features. Am J Med Genet 38:269-274.
-
(1991)
Am J Med Genet
, vol.38
, pp. 269-274
-
-
Cronister, A.1
Schreiner, R.2
Wittenberger, M.3
Amiri, K.4
Harris, K.5
Hagerman, R.J.6
-
8
-
-
0020030761
-
Premature menopause due to a small deletion in the long arm of the X chromosome
-
Fitch N, de Saint Victor J, Richer CL, Pinsky L, Sitahal S. 1982. Premature menopause due to a small deletion in the long arm of the X chromosome. Am J Obstet Gynecol 142:968-972.
-
(1982)
Am J Obstet Gynecol
, vol.142
, pp. 968-972
-
-
Fitch, N.1
De Saint Victor, J.2
Richer, C.L.3
Pinsky, L.4
Sitahal, S.5
-
9
-
-
0021341613
-
Reduced fertility in women with X chromosome abnormality
-
Fitzgerald PH, Donald RA, McCormick P. 1984. Reduced fertility in women with X chromosome abnormality. Clin Genet 25:301-309.
-
(1984)
Clin Genet
, vol.25
, pp. 301-309
-
-
Fitzgerald, P.H.1
Donald, R.A.2
McCormick, P.3
-
10
-
-
0029450175
-
Screening for the fragile X syndrome: The necessity of international guidelines for molecular genetics predictive testing in general
-
Fryns JP. 1995. Screening for the fragile X syndrome: the necessity of international guidelines for molecular genetics predictive testing in general. Genet Counseling 6:293-296.
-
(1995)
Genet Counseling
, vol.6
, pp. 293-296
-
-
Fryns, J.P.1
-
11
-
-
0345719265
-
Premature ovarian failure and FMR-1 premutation: A pilot screening
-
Abstract
-
Giovannucci Uzielli ML, Lapi E, Guarducci S, Ricci U, Cecconi A, Scarselli B, Sereni A, Vieri F. 1997. Premature ovarian failure and FMR-1 premutation: a pilot screening. Medizinische Genetik. (Suppl.) 9:154 (Abstract).
-
(1997)
Medizinische Genetik. (Suppl.)
, vol.9
, pp. 154
-
-
Giovannucci Uzielli, M.L.1
Lapi, E.2
Guarducci, S.3
Ricci, U.4
Cecconi, A.5
Scarselli, B.6
Sereni, A.7
Vieri, F.8
-
12
-
-
0023250423
-
Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome
-
Krauss CM, Turksoy RN, Atkins L, McLaughlins C, Brown LG, Page DC. 1987. Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome. N Engl J Med 317:125-131.
-
(1987)
N Engl J Med
, vol.317
, pp. 125-131
-
-
Krauss, C.M.1
Turksoy, R.N.2
Atkins, L.3
McLaughlins, C.4
Brown, L.G.5
Page, D.C.6
-
13
-
-
0027173002
-
Population studies of the fragile X: A molecular approach
-
Jacobs PA, Bullman H, Macpherson J, Youings S, Rooney V, Watson A, Dennin NR. 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
Youings, S.4
Rooney, V.5
Watson, A.6
Dennin, N.R.7
-
14
-
-
0344856412
-
Molecular screening for Fraxa and Fraxe
-
Tromso, Norway
-
Jacobs PA, Youing SA, Murray A, McKechnie N, Dennis NR. 1995. Molecular screening for Fraxa and Fraxe. 7th International Workshop on the Fragile X and X-linked Mental Retardation, Tromso, Norway.
-
(1995)
7th International Workshop on the Fragile X and X-linked Mental Retardation
-
-
Jacobs, P.A.1
Youing, S.A.2
Murray, A.3
McKechnie, N.4
Dennis, N.R.5
-
15
-
-
0026875908
-
Molecular genetics of the fragile-X-syndrome: A novel type of unstable mutation
-
Mandel JL, Heitz D. 1992. Molecular genetics of the fragile-X-Syndrome: a novel type of unstable mutation. Curr Opin Genet Dev 2:422-430.
-
(1992)
Curr Opin Genet Dev
, vol.2
, pp. 422-430
-
-
Mandel, J.L.1
Heitz, D.2
-
16
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes D, Polesky HK. 1988. A simple salting out procedure for extracting DNA from human nucleated cells. Nucl Acids Res 16:1215-1219.
-
(1988)
Nucl Acids Res
, vol.16
, pp. 1215-1219
-
-
Miller, S.A.1
Dykes, D.2
Polesky, H.K.3
-
17
-
-
0031025986
-
Fragile X syndrome is less common than previously estimated
-
Morton JE, Bundey S, Webb TP, MacDonald F, Rindl PM, Bullock S. 1997. Fragile X syndrome is less common than previously estimated. J Med Genet 34:1-345.
-
(1997)
J Med Genet
, vol.34
, pp. 1-345
-
-
Morton, J.E.1
Bundey, S.2
Webb, T.P.3
MacDonald, F.4
Rindl, P.M.5
Bullock, S.6
-
19
-
-
0029931540
-
Confirmation of early menopause in fragile X carriers
-
Partington MW, York Moore, Turner GM. 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
York Moore2
Turner, G.M.3
-
20
-
-
0025784236
-
A triple-X female with long arm deletion of one of the X-chromosome associated with primary amenorrhoea: 47,XX,+del(X)(q27.3)
-
Radhakrishna U, Shah VC, Highland HN, Chinoy NJ, Sheth FJ. 1991. A triple-X female with long arm deletion of one of the X-chromosome associated with primary amenorrhoea: 47,XX,+del(X)(q27.3). Ann Genet 34:40-43.
-
(1991)
Ann Genet
, vol.34
, pp. 40-43
-
-
Radhakrishna, U.1
Shah, V.C.2
Highland, H.N.3
Chinoy, N.J.4
Sheth, F.J.5
-
21
-
-
0028141919
-
A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3
-
Rousseau F, Heitz D, Tarleton J, MacPherson J, Malmgren H, Dahl N, Barnicoat A, Mathew GC, Mornet E, Tejada I. 1994. A multicenter study on genotype-phenotype correlations in the Fragile X Syndrome, using direct diagnosis with probe StB12.3. Am J Hum Genet 55:225-237.
-
(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, G.C.8
Mornet, E.9
Tejada, I.10
-
22
-
-
0028237295
-
Obstetrical and gynecological complications in fragile X carriers: A multicenter study
-
Schwartz CE, Dean J, Howard-Peebles PN, Bugge M, Mikkelsen M, Tommerup N, Hull C, Ilagerman R, Holden JJA, Stevenson RE. 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
Bugge, M.4
Mikkelsen, M.5
Tommerup, N.6
Hull, C.7
Ilagerman, R.8
Holden, J.J.A.9
Stevenson, R.E.10
-
23
-
-
0025092789
-
The critical region on the human Xq
-
Therman E, Laxova R, Susman B. 1990. The critical region on the human Xq. Hum Genet 85:455-461.
-
(1990)
Hum Genet
, vol.85
, pp. 455-461
-
-
Therman, E.1
Laxova, R.2
Susman, B.3
-
24
-
-
0027985106
-
Dizygous twinning and premature menopause in the fragile X syndrome
-
Turner G, Robinson H, Wake S, Martin N. 1994. Dizygous twinning and premature menopause in the Fragile X syndrome. Lancet 344:1500.
-
(1994)
Lancet
, vol.344
, pp. 1500
-
-
Turner, G.1
Robinson, H.2
Wake, S.3
Martin, N.4
-
27
-
-
0344424566
-
A rapid non-radioactive screening test for fragile X mutations at the FRAXA and FRAXE loci
-
Wang Q, Green E, Bobrow M, Mathew CG (1994): A rapid non-radioactive screening test for fragile X mutations at the FRAXA and FRAXE loci. J Med Genet 95:13-16
-
(1994)
J Med Genet
, vol.95
, pp. 13-16
-
-
Wang, Q.1
Green, E.2
Bobrow, M.3
Mathew, C.G.4
|