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Items: 1 to 20 of 156

1.

Mosaic pentasomy X/tetrasomy X syndrome and premature ovarian failure.

Wood A, Kleis L, Toriello H, Cemeroglu AP.

Indian Pediatr. 2011 May;48(5):402-4.

PMID:
21654007
2.

Premature ovarian failure due to tetrasomy X in an adolescent girl.

Kara C, Üstyol A, Yılmaz A, Altundağ E, Oğur G.

Eur J Pediatr. 2014 Dec;173(12):1627-30. doi: 10.1007/s00431-013-2209-y.

PMID:
24221609
3.

Tetrasomy and pentasomy of the X chromosome.

Schoubben E, Decaestecker K, Quaegebeur K, Danneels L, Mortier G, Cornette L.

Eur J Pediatr. 2011 Oct;170(10):1325-7. doi: 10.1007/s00431-011-1491-9.

PMID:
21590264
4.

[Sex chromosome abnormality: report of three clinical cases of X pentasomy].

Biroli E, Ghimenti C, Ricci I, Pirola B, Liverani ME, Perona A, Galligani L, Guala A, Angeli G.

Pathologica. 2003 Dec;95(6):444-6. Italian.

PMID:
15080523
5.

[Atypical presentation of a premature ovarian failure with deletion of X chromosome].

Harzallah F, Waghlani R, Amouri A.

Gynecol Obstet Fertil. 2011 Feb;39(2):e34-6. doi: 10.1016/j.gyobfe.2010.08.021. French.

PMID:
21288754
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.

7.

Genotype- phenotype correlation in trisomy X: a retrospective study of a selected group of 36 patients and review of literature.

Butnariu L, Rusu C, Caba L, Pânzaru M, Braha E, Grămescu M, Popescu R, Bujoranu C, Gorduza EV.

Rev Med Chir Soc Med Nat Iasi. 2013 Jul-Sep;117(3):714-21. Review.

PMID:
24502039
8.

Pentasomy X mosaic in two adult sisters with diabetes mellitus.

Nakano S, Sasame A, Azukizawa S, Kigoshi T, Uchida K, Takahashi H, Morimoto S.

Intern Med. 1992 Sep;31(9):1102-6.

10.

Prevalence of X-aneuploidies, X-structural abnormalities and 46,XY sex reversal in Turkish women with primary amenorrhea or premature ovarian insufficiency.

Geckinli BB, Toksoy G, Sayar C, Soylemez MA, Yesil G, Aydın H, Karaman A, Devranoglu B.

Eur J Obstet Gynecol Reprod Biol. 2014 Nov;182:211-5. doi: 10.1016/j.ejogrb.2014.09.033.

PMID:
25445102
11.

De novo duplication of Xq22.1→q24 with a disruption of the NXF gene cluster in a mentally retarded woman with short stature and premature ovarian failure.

Chen CP, Su YN, Lin HH, Chern SR, Tsai FJ, Wu PC, Lee CC, Chen YT, Wang W.

Taiwan J Obstet Gynecol. 2011 Sep;50(3):339-44. doi: 10.1016/j.tjog.2011.01.018.

12.

A case of 49,XXXXX in which the extra X chromosomes were maternal in origin.

Cho YG, Kim DS, Lee HS, Cho SC, Choi SI.

J Clin Pathol. 2004 Sep;57(9):1004-6. Review.

13.

Double aneuploidy: partial trisomy 21 and XO/XXX in a family with 12/21 translocation.

Chen H, Tyrkus M, Woolley PV.

Ann Genet. 1978 Sep;21(3):177-80.

PMID:
315194
14.

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.

PMID:
20345472
15.

Aplastic Anemia in Two Patients with Sex Chromosome Aneuploidies.

Rush ET, Schaefer GB, Sanger WG, Coccia PF.

Cytogenet Genome Res. 2015;147(1):31-4. doi: 10.1159/000441585.

PMID:
26571231
16.

A complex mosaicism 45,X/46,X,del(Xq)/46,X,idic(Xq) in a patient with secondary amenorrhea.

Calvano S, de Cillis GP, Croce AI, Perla G, Notarangelo A, Zelante L.

Ann Genet. 2002 Jul-Sep;45(3):137-40.

PMID:
12381444
17.

Genetic aspects of premature ovarian failure: a literature review.

Cordts EB, Christofolini DM, Dos Santos AA, Bianco B, Barbosa CP.

Arch Gynecol Obstet. 2011 Mar;283(3):635-43. doi: 10.1007/s00404-010-1815-4. Review.

PMID:
21188402
18.

Tetrasomy 9p mosaicism associated with a normal phenotype in two cases.

Papoulidis I, Kontodiou M, Tzimina M, Saitis I, Hamid AB, Klein E, Kosyakova N, Kordass U, Kunz J, Siomou E, Nicolaides P, Orru S, Thomaidis L, Liehr T, Petersen MB, Manolakos E.

Cytogenet Genome Res. 2012;136(4):237-41. doi: 10.1159/000337520. Review.

PMID:
22487875
19.

Cytogenetic abnormalities in Tunisian women with premature ovarian failure.

Ayed W, Amouri A, Hammami W, Kilani O, Turki Z, Harzallah F, Bouayed-Abdelmoula N, Chemkhi I, Zhioua F, Slama CB.

C R Biol. 2014 Dec;337(12):691-4. doi: 10.1016/j.crvi.2014.09.003.

PMID:
25433561
20.

Penta X syndrome: a case report with review of the literature.

Kassai R, Hamada I, Furuta H, Cho K, Abe K, Deng HX, Niikawa N.

Am J Med Genet. 1991 Jul 1;40(1):51-6. Review.

PMID:
1887850
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