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Items: 1 to 20 of 309

1.

Molecular genetic and cytogenetic characterization of a partial Xp duplication and Xq deletion in a patient with premature ovarian failure.

Kim MK, Seok HH, Kim YS, Chin MU, Sung SR, Lee WS, Shim SH, Yoon TK.

Gene. 2014 Jan 15;534(1):54-9. doi: 10.1016/j.gene.2013.10.026. Epub 2013 Oct 19.

PMID:
24148559
3.

Molecular cytogenetic characterization of Xp22.32→pter deletion and Xq26.3→qter duplication in a male fetus associated with 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a hypoplastic left heart, short stature, and maternal X chromosome pericentric inversion.

Chen CP, Chen CY, Chern SR, Wu PS, Chen YN, Chen SW, Lee CC, Town DD, Lee MS, Yang CW, Wang W.

Taiwan J Obstet Gynecol. 2016 Oct;55(5):705-711. doi: 10.1016/j.tjog.2016.05.009.

4.

Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients.

Lakhal B, Braham R, Berguigua R, Bouali N, Zaouali M, Chaieb M, Veitia RA, Saad A, Elghezal H.

Clin Genet. 2010 Aug;78(2):181-5. doi: 10.1111/j.1399-0004.2009.01359.x. Epub 2009 Dec 2.

PMID:
20345472
5.

Array CGH characterization of an unbalanced X-autosome translocation associated with Xq27.2-qter deletion, 11q24.3-qter duplication and Xq22.3-q27.1 duplication in a girl with primary amenorrhea and mental retardation.

Chen CP, Lin SP, Chern SR, Kuo YL, Wu PS, Chen YT, Lee MS, Wang W.

Gene. 2014 Feb 1;535(1):88-92. doi: 10.1016/j.gene.2013.11.026. Epub 2013 Nov 23.

PMID:
24279999
6.

Cytogenetic analysis of 531 Chinese women with premature ovarian failure.

Jiao X, Qin C, Li J, Qin Y, Gao X, Zhang B, Zhen X, Feng Y, Simpson JL, Chen ZJ.

Hum Reprod. 2012 Jul;27(7):2201-7. doi: 10.1093/humrep/des104. Epub 2012 Apr 18.

PMID:
22513983
7.

Cryptic Xp duplication including the SHOX gene in a woman with 46,X, del(X)(q21.31) and premature ovarian failure.

Tachdjian G, Aboura A, Portnoï MF, Pasquier M, Bourcigaux N, Simon T, Rousseau G, Finkel L, Benkhalifa M, Christin-Maitre S.

Hum Reprod. 2008 Jan;23(1):222-6. Epub 2007 Nov 1.

PMID:
17981816
8.

Genetic and molecular analysis of a new unbalanced X;18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region.

Fusco F, Paciolla M, Chen E, Li X, Genesio R, Conti A, Jones J, Poeta L, Lioi MB, Ursini MV, Miano MG.

Hum Reprod. 2011 Nov;26(11):3186-96. doi: 10.1093/humrep/der266. Epub 2011 Aug 22.

PMID:
21859812
9.

Analysis of FMR1 gene premutation and X chromosome cytogenetic abnormalities in 100 Tunisian patients presenting premature ovarian failure.

Bouali N, Hmida D, Mougou S, Bouligand J, Lakhal B, Dimessi S, Francou B, Saad G, Trabelsi S, Zaouali M, Gribaa M, Chaieb M, Bibi M, Guiochon-Mantel A, Saad A.

Ann Endocrinol (Paris). 2015 Dec;76(6):671-8. doi: 10.1016/j.ando.2015.10.001. Epub 2015 Dec 1.

PMID:
26593861
10.

Molecular cytogenetic definition of a translocation t(X;15) associated with premature ovarian failure.

Bertini V, Ghirri P, Bicocchi MP, Simi P, Valetto A.

Fertil Steril. 2010 Aug;94(3):1097.e5-8. doi: 10.1016/j.fertnstert.2010.02.013. Epub 2010 Mar 24.

PMID:
20338563
11.

Molecular cytogenetic studies of Xq critical regions in premature ovarian failure patients.

Portnoï MF, Aboura A, Tachdjian G, Bouchard P, Dewailly D, Bourcigaux N, Frydman R, Reyss AC, Brisset S, Christin-Maitre S.

Hum Reprod. 2006 Sep;21(9):2329-34. Epub 2006 Jun 3.

PMID:
16751643
12.

De novo complex X chromosome rearrangement unmasking maternally inherited CSF2RA deletion in a girl with pulmonary alveolar proteinosis.

Auger J, Bonnet C, Valduga M, Philippe C, Bertolo-Houriez E, Beri-Dexheimer M, Schweitzer C, Leheup B, Jonveaux P.

Am J Med Genet A. 2013 Oct;161A(10):2594-9. doi: 10.1002/ajmg.a.36097. Epub 2013 Aug 5.

PMID:
23918747
13.

Familial X;Y translocation with distinct phenotypic consequences: Characterization using FISH and array CGH.

Bukvic N, Carri VD, Di Cosola ML, Pustorino G, Cesarano C, Chetta M, Santacroce R, Sarno M, Sessa F, Longo V, Novelli A, Gentile M, Margaglione M.

Am J Med Genet A. 2010 Jul;152A(7):1730-4. doi: 10.1002/ajmg.a.33437.

PMID:
20578256
14.

An idic(15) associated with POF (premature ovarian failure): molecular cytogenetic definition of a case and review of the literature.

Bertini V, Viola D, Vitti P, Simi P, Valetto A.

Gene. 2012 Jul 15;503(1):123-5. doi: 10.1016/j.gene.2012.04.071. Epub 2012 May 2. Review.

PMID:
22575723
15.

Complex X chromosome rearrangement delineated by array comparative genome hybridization in a woman with premature ovarian insufficiency.

Ochalski ME, Engle N, Wakim A, Ravnan BJ, Hoffner L, Rajkovic A, Surti U.

Fertil Steril. 2011 Jun;95(7):2433.e9-15. doi: 10.1016/j.fertnstert.2011.03.082. Epub 2011 Apr 29.

PMID:
21530964
16.

Array comparative genomic hybridization profiling analysis reveals deoxyribonucleic acid copy number variations associated with premature ovarian failure.

Aboura A, Dupas C, Tachdjian G, Portnoï MF, Bourcigaux N, Dewailly D, Frydman R, Fauser B, Ronci-Chaix N, Donadille B, Bouchard P, Christin-Maitre S.

J Clin Endocrinol Metab. 2009 Nov;94(11):4540-6. doi: 10.1210/jc.2009-0186. Epub 2009 Oct 16.

PMID:
19837940
17.

A case of 46,X,der(X)t(X;X)(q22.1;p11) Xq22.1-->Xqter in a 12-year-old girl with premature ovarian failure.

Merhi ZO, Roberts JL, Awonuga AO.

Gynecol Obstet Invest. 2007;63(3):137-9. Epub 2006 Oct 19.

PMID:
17057399
18.

Crypt Y chromosome fragment resulting from an X;Y translocation in a patient with premature ovarian failure.

Cheng DH, Tan YQ, Di YF, Li LY, Lu GX.

Fertil Steril. 2009 Aug;92(2):828.e3-6. doi: 10.1016/j.fertnstert.2008.07.014. Epub 2009 Jun 13.

PMID:
19524892
19.

Cytogenetic analysis of 179 Iranian women with premature ovarian failure.

Kalantari H, Madani T, Zari Moradi S, Mansouri Z, Almadani N, Gourabi H, Mohseni Meybodi A.

Gynecol Endocrinol. 2013 Jun;29(6):588-91. doi: 10.3109/09513590.2013.788625. Erratum in: Gynecol Endocrinol. 2013 Jul;29(7):727.

PMID:
23656387
20.

Analysis of X chromosome genomic DNA sequence copy number variation associated with premature ovarian failure (POF).

Quilter CR, Karcanias AC, Bagga MR, Duncan S, Murray A, Conway GS, Sargent CA, Affara NA.

Hum Reprod. 2010 Aug;25(8):2139-50. doi: 10.1093/humrep/deq158. Epub 2010 Jun 22.

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