-
1
-
-
34247850779
-
Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: Case report
-
10.1186/1471-2350-8-18. 17428316
-
Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: Case report. MG Miano C Laperuta P Chiurazzi M D'Urso MV Ursini, BMC Med Genet 2007 8 18 10.1186/1471-2350-8-18 17428316
-
(2007)
BMC Med Genet
, vol.8
, pp. 18
-
-
Miano, M.G.1
Laperuta, C.2
Chiurazzi, P.3
D'Urso, M.4
Ursini, M.V.5
-
2
-
-
0033616191
-
Ovarian differentiation and gonadal failure
-
10.1002/(SICI)1096-8628(19991229)89:4<186::AID-AJMG3>3.0.CO;2-5. 10727994
-
Ovarian differentiation and gonadal failure. JL Simpson A Rajkovic, Am J Med Genet 1999 89 186 200 10.1002/(SICI)1096-8628(19991229)89:4<186::AID- AJMG3>3.0.CO;2-5 10727994
-
(1999)
Am J Med Genet
, vol.89
, pp. 186-200
-
-
Simpson, J.L.1
Rajkovic, A.2
-
3
-
-
4544294975
-
Evidence of early ovarian aging in fragile X premutation carriers
-
10.1210/jc.2004-0347. 15356064
-
Evidence of Early Ovarian Aging in Fragile X Premutation Carriers. CK Welt PC Smith AE Taylor, J Clin Endocrinol Metab 2004 89 4569 4574 10.1210/jc.2004-0347 15356064
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 4569-4574
-
-
Welt, C.K.1
Smith, P.C.2
Taylor, A.E.3
-
4
-
-
33749576976
-
Molecular cytogenetic studies of Xq critical regions in premature ovarian failure patients
-
10.1093/humrep/del174. 16751643
-
Molecular cytogenetic studies of Xq critical regions in premature ovarian failure patients. MF Portnoi A Aboura G Tachdjian P Bouchard D Dewailly N Bourcigaux R Frydman A Reyss S Brisset S Christin-Maitre, Hum Reprod 2006 21 2329 2334 10.1093/humrep/del174 16751643
-
(2006)
Hum Reprod
, vol.21
, pp. 2329-2334
-
-
Portnoi, M.F.1
Aboura, A.2
Tachdjian, G.3
Bouchard, P.4
Dewailly, D.5
Bourcigaux, N.6
Frydman, R.7
Reyss, A.8
Brisset, S.9
Christin-Maitre, S.10
-
5
-
-
21244434753
-
Premature ovarian failure
-
10.1093/humupd/dmi012. 15919682
-
Premature ovarian failure. D Goswami GS Conway, Hum Reprod Update 2005 11 391 410 10.1093/humupd/dmi012 15919682
-
(2005)
Hum Reprod Update
, vol.11
, pp. 391-410
-
-
Goswami, D.1
Conway, G.S.2
-
6
-
-
34248145546
-
Premature ovarian failure
-
10.1186/1750-1172-1-9
-
Premature ovarian failure. P Beck-Peccoz L Persani, Orph J Rare Dis 2006 1 9 10.1186/1750-1172-1-9
-
(2006)
Orph J Rare Dis
, vol.1
, pp. 9
-
-
Beck-Peccoz, P.1
Persani, L.2
-
7
-
-
0028087750
-
Molecular and cytogenetic studies of an X; autosome translocation in a patient with premature ovarian failure and review of the literature
-
10.1002/ajmg.1320520105
-
Molecular and cytogenetic studies of an X; autosome translocation in a patient with premature ovarian failure and review of the literature. CM Powell RT Taggart TC Drumheller D Wangsa C Qian LM Nelson BJ White, Am J Med Genet 2004 52 19 26 10.1002/ajmg.1320520105
-
(2004)
Am J Med Genet
, vol.52
, pp. 19-26
-
-
Powell, C.M.1
Taggart, R.T.2
Drumheller, T.C.3
Wangsa, D.4
Qian, C.5
Nelson, L.M.6
White, B.J.7
-
8
-
-
0025092789
-
The critical region on the human Xq
-
2227929
-
The critical region on the human Xq. E Therman R Laxova B Susman, Hum Genet 1990 85 455 461 2227929
-
(1990)
Hum Genet
, vol.85
, pp. 455-461
-
-
Therman, E.1
Laxova, R.2
Susman, B.3
-
9
-
-
33646517073
-
X-linked premature ovarian failure: A complex disease
-
10.1016/j.gde.2006.04.005. 16650756
-
X-linked premature ovarian failure: a complex disease. D Toniolo, Curr Opin Genet Dev 2006 16 293 300 10.1016/j.gde.2006.04.005 16650756
-
(2006)
Curr Opin Genet Dev
, vol.16
, pp. 293-300
-
-
Toniolo, D.1
-
10
-
-
16544377383
-
Molecular diagnosis and genetic counseling for fragile X mental retardation
-
15069237
-
Molecular diagnosis and genetic counseling for fragile X mental retardation. UB Pandey SR Phadke B Mittal, Neurol India 2004 52 36 42 15069237
-
(2004)
Neurol India
, vol.52
, pp. 36-42
-
-
Pandey, U.B.1
Phadke, S.R.2
Mittal, B.3
-
11
-
-
14044268841
-
Association of FMR1 repeat size with ovarian dysfunction
-
10.1093/humrep/deh635. 15608041
-
Association of FMR1 repeat size with ovarian dysfunction. AK Sullivan M Marcus MP Epstein EG Allen AE Anido JJ Paquin M Yadav-Shah SL Sherman, Hum Reprod 2005 20 402 412 10.1093/humrep/deh635 15608041
-
(2005)
Hum Reprod
, vol.20
, pp. 402-412
-
-
Sullivan, A.K.1
Marcus, M.2
Epstein, M.P.3
Allen, E.G.4
Anido, A.E.5
Paquin, J.J.6
Yadav-Shah, M.7
Sherman, S.L.8
-
12
-
-
34547813683
-
Examination of reproductive aging milestones among women who carry the FMR1 premutation
-
10.1093/humrep/dem148. 17588953
-
Examination of reproductive aging milestones among women who carry the FMR1 premutation. EG Allen AK Sullivan M Marcus C Small C Dominguez MP Epstein K Charen W He KC Taylor SL Sherman, Hum Reprod 2007 22 2142 2152 10.1093/humrep/dem148 17588953
-
(2007)
Hum Reprod
, vol.22
, pp. 2142-2152
-
-
Allen, E.G.1
Sullivan, A.K.2
Marcus, M.3
Small, C.4
Dominguez, C.5
Epstein, M.P.6
Charen, K.7
He, W.8
Taylor, K.C.9
Sherman, S.L.10
-
13
-
-
70349508331
-
An improved Diagnostic PCR Assay for identification of Cryptic Heterozygosity for CGG Triplet Repeat Alleles in the Fragile X Gene (FMR1)
-
10.1186/1755-8166-1-5. 18471319
-
An improved Diagnostic PCR Assay for identification of Cryptic Heterozygosity for CGG Triplet Repeat Alleles in the Fragile X Gene (FMR1). MS Khaniani P Kalitsis T Burgess HR Slater, Mol Cytogenet 2008 1 5 10.1186/1755-8166-1-5 18471319
-
(2008)
Mol Cytogenet
, vol.1
, pp. 5
-
-
Khaniani, M.S.1
Kalitsis, P.2
Burgess, T.3
Slater, H.R.4
-
14
-
-
0027440971
-
Deletion (X)(q26.1>q28) in a proband and her mother: Molecular characterization and phenotypic-karyotypic deductions
-
8095365
-
Deletion (X)(q26.1>q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions. AT Tharapel KP Anderson JL Simpson PR Martens RS Wilroy Jr JC Llerena Jr CE Schwartz, Am J Hum Genet 1993 52 463 471 8095365
-
(1993)
Am J Hum Genet
, vol.52
, pp. 463-471
-
-
Tharapel, A.T.1
Anderson, K.P.2
Simpson, J.L.3
Martens, P.R.4
Wilroy Jr., R.S.5
Llerena Jr., J.C.6
Schwartz, C.E.7
-
15
-
-
33646496697
-
Chromosomal rearrangements in Xq and premature ovarian failure: Mapping of 25 new cases and review of the literature
-
10.1093/humrep/dei495. 16497693
-
Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. F Rizzolio S Bione C Sala M Goegan M Gentile G Gregato E Rossi T Pramparo O Zuffardi D Toniolo, Hum Reprod 2006 21 1477 1483 10.1093/humrep/dei495 16497693
-
(2006)
Hum Reprod
, vol.21
, pp. 1477-1483
-
-
Rizzolio, F.1
Bione, S.2
Sala, C.3
Goegan, M.4
Gentile, M.5
Gregato, G.6
Rossi, E.7
Pramparo, T.8
Zuffardi, O.9
Toniolo, D.10
-
16
-
-
0023250423
-
Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome
-
3600701
-
Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome. CM Krauss RN Turksoy L Atkins C McLaughlin LG Brown DC Page, N Engl J Med 1987 317 125 131 3600701
-
(1987)
N Engl J Med
, vol.317
, pp. 125-131
-
-
Krauss, C.M.1
Turksoy, R.N.2
Atkins, L.3
McLaughlin, C.4
Brown, L.G.5
Page, D.C.6
-
17
-
-
0025971985
-
Premature menopause because of an inherited deletion in the long arm of the X-chromosome
-
2001764
-
Premature menopause because of an inherited deletion in the long arm of the X-chromosome. F Veneman GC Beverstock N Exalto P Mollevanger, Fertil Steril 1991 55 631 633 2001764
-
(1991)
Fertil Steril
, vol.55
, pp. 631-633
-
-
Veneman, F.1
Beverstock, G.C.2
Exalto, N.3
Mollevanger, P.4
-
18
-
-
0031781361
-
A familial case of X chromosome deletion ascertained by cytogenetic screening of women with premature ovarian failure
-
10.1093/humrep/13.11.3039. 9853851
-
A familial case of X chromosome deletion ascertained by cytogenetic screening of women with premature ovarian failure. RM Davison CR Quilter J Webb A Murray AM Fisher A Valentine P Serhal GS Conway, Hum Reprod 1998 13 3039 3041 10.1093/humrep/13.11.3039 9853851
-
(1998)
Hum Reprod
, vol.13
, pp. 3039-3041
-
-
Davison, R.M.1
Quilter, C.R.2
Webb, J.3
Murray, A.4
Fisher, A.M.5
Valentine, A.6
Serhal, P.7
Conway, G.S.8
-
19
-
-
6444220656
-
A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28
-
10.1038/sj.ejhg.5201186. 15280899
-
A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28. F Rossetti F Rizzolio T Pramparo C Sala S Bione F Bernardi M Goegan O Zuffardi D Toniolo, Eur J Hum Genet 2004 12 829 834 10.1038/sj.ejhg.5201186 15280899
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 829-834
-
-
Rossetti, F.1
Rizzolio, F.2
Pramparo, T.3
Sala, C.4
Bione, S.5
Bernardi, F.6
Goegan, M.7
Zuffardi, O.8
Toniolo, D.9
-
20
-
-
31544483320
-
Heterozygosity mapping by quantitative fluorescent PCR reveals an interstitial deletion in Xq26.2-q28 associated with ovarian dysfunction
-
10.1093/humrep/dei356. 16239311
-
Heterozygosity mapping by quantitative fluorescent PCR reveals an interstitial deletion in Xq26.2-q28 associated with ovarian dysfunction. G Fimiani C Laperuta G Falco V Ventruto M D'Urso MV Ursini MG Miano, Hum Reprod 2006 21 529 535 10.1093/humrep/dei356 16239311
-
(2006)
Hum Reprod
, vol.21
, pp. 529-535
-
-
Fimiani, G.1
Laperuta, C.2
Falco, G.3
Ventruto, V.4
D'Urso, M.5
Ursini, M.V.6
Miano, M.G.7
-
21
-
-
17644423933
-
Premature ovarian failure associated with a small terminal Xq deletion: Narrowing the POF1 region down to Xq27.2/Xq27.3-qter
-
10.1111/j.1399-0004.2005.00427.x. 15811012
-
Premature ovarian failure associated with a small terminal Xq deletion: narrowing the POF1 region down to Xq27.2/Xq27.3-qter. T Eggermann D Meschede H Schuler S Palm D Glaser B Horsthemke K Eggermann F Haverkamp K Zerres, Clin Genet 2005 67 434 437 10.1111/j.1399-0004.2005.00427.x 15811012
-
(2005)
Clin Genet
, vol.67
, pp. 434-437
-
-
Eggermann, T.1
Meschede, D.2
Schuler, H.3
Palm, S.4
Glaser, D.5
Horsthemke, B.6
Eggermann, K.7
Haverkamp, F.8
Zerres, K.9
-
22
-
-
0036981036
-
X-chromosome inactivation and human genetic disease
-
10.1080/080352502762458030
-
X-chromosome inactivation and human genetic disease. MF Lyon, Acta Paediatr Suppl 2002 439 107 112 10.1080/080352502762458030
-
(2002)
Acta Paediatr Suppl
, vol.439
, pp. 107-112
-
-
Lyon, M.F.1
-
23
-
-
15244353967
-
X-inactivation profile reveals extensive variability in X-linked gene expression in females
-
10.1038/nature03479. 15772666
-
X-inactivation profile reveals extensive variability in X-linked gene expression in females. L Carrel HF Willard, Nature 2005 434 400 404 10.1038/nature03479 15772666
-
(2005)
Nature
, vol.434
, pp. 400-404
-
-
Carrel, L.1
Willard, H.F.2
-
24
-
-
63149168931
-
Microdeletion syndromes disclose replication timing alterations of genes unrelated to the missing DNA
-
10.1186/1755-8166-2-11. 19284877
-
Microdeletion syndromes disclose replication timing alterations of genes unrelated to the missing DNA. J Yeshaya I Amir A Rimon J Freedman M Shohat L Avivi, Mol Cytogenet 2009 2 11 10.1186/1755-8166-2-11 19284877
-
(2009)
Mol Cytogenet
, vol.2
, pp. 11
-
-
Yeshaya, J.1
Amir, I.2
Rimon, A.3
Freedman, J.4
Shohat, M.5
Avivi, L.6
-
25
-
-
43149105146
-
Fragile X and reproduction
-
10.1097/GCO.0b013e3282fe7254. 18460934
-
Fragile X and reproduction. JR Martin A Arici, Curr Opin Obstet Gynecol 2008 20 216 220 10.1097/GCO.0b013e3282fe7254 18460934
-
(2008)
Curr Opin Obstet Gynecol
, vol.20
, pp. 216-220
-
-
Martin, J.R.1
Arici, A.2
-
27
-
-
42349115184
-
Molecular definition of high-resolution multicolor banding probes: First within the human DNA sequence anchored FISH banding probe set
-
10.1369/jhc.2008.950550. 18256020
-
Molecular Definition of High-resolution Multicolor Banding Probes: First Within the Human DNA Sequence Anchored FISH Banding Probe Set. A Weise K Mrasek I Fickelscher U Claussen SW Cheung WW Cai T Liehr N Kosyakova, J Histochem Cytochem 2008 56 487 493 10.1369/jhc.2008.950550 18256020
-
(2008)
J Histochem Cytochem
, vol.56
, pp. 487-493
-
-
Weise, A.1
Mrasek, K.2
Fickelscher, I.3
Claussen, U.4
Cheung, S.W.5
Cai, W.W.6
Liehr, T.7
Kosyakova, N.8
|