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Items: 1 to 20 of 117

1.

[Phenotypic variability in 47, XXX patients: Clinical report of four new cases].

Goldschmidt E, Márquez M, Solari A, Ziembar MI, Laudicina A.

Arch Argent Pediatr. 2010 Aug;108(4):e88-91. doi: 10.1590/S0325-00752010000400012. Spanish.

2.

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
3.

Partial epilepsy and 47,XXX karyotype: report of four cases.

Roubertie A, Humbertclaude V, Leydet J, Lefort G, Echenne B.

Pediatr Neurol. 2006 Jul;35(1):69-74.

PMID:
16814091
4.

[Double aneuploidy (trisomy X, trisomy 18) in a newborn with trisomy 18 phenotype].

Pachajoa H.

Arch Argent Pediatr. 2013 Jul-Aug;111(4):e101-4. doi: 10.1590/S0325-00752013000400019. Review. Spanish.

5.

Triple-x syndrome accompanied by congenital adrenal hyperplasia: case report.

Kurtoğlu S, Atabek ME, Akçakuş M, Ozkul Y, Saatçi C.

Turk J Pediatr. 2004 Oct-Dec;46(4):377-9.

6.

Recombinant chromosome 7 in a mosaic 45,X/47,XXX patient.

Tirado CA, Gotway G, Torgbe E, Iyer S, Dallaire S, Appleberry T, Suterwala M, Garcia R, Valdez F, Patel S, Koduru P.

Am J Med Genet A. 2012 Jan;158A(1):206-14. doi: 10.1002/ajmg.a.34364. Epub 2011 Nov 21.

PMID:
22106088
7.

Rare case of massive congenital bilateral chylothorax in a hydropic fetus with true mosaicism 47,XXX/46,XX.

Cremonini G, Poggi A, Capucci R, Vesce F, Patella A, Marci R.

J Obstet Gynaecol Res. 2014 Jan;40(1):259-62. doi: 10.1111/jog.12131. Epub 2013 Aug 12.

PMID:
23937348
8.

The psychiatric phenotype in triple X syndrome: new hypotheses illustrated in two cases.

Otter M, Schrander-Stumpel CT, Didden R, Curfs LM.

Dev Neurorehabil. 2012;15(3):233-8. doi: 10.3109/17518423.2012.655799.

9.

Undetected sex chromosome aneuploidy by chromosomal microarray.

Markus-Bustani K, Yaron Y, Goldstein M, Orr-Urtreger A, Ben-Shachar S.

Prenat Diagn. 2012 Nov;32(11):1117-8. doi: 10.1002/pd.3979. Epub 2012 Oct 4.

PMID:
23034780
10.

Intestinal atresia, encephalocele, and cardiac malformations in infants with 47,XXX: Expansion of the phenotypic spectrum and a review of the literature.

Bağci S, Müller A, Franz A, Heydweiller A, Berg C, Nöthen MM, Bartmann P, Reutter H.

Fetal Diagn Ther. 2010;27(2):113-7. doi: 10.1159/000284929. Epub 2010 Feb 16. Review.

PMID:
20160426
11.

A case of premature ovarian failure (POF) in a 31-year-old woman with a 47,XXX karyotype.

Skałba P, Cygal A, Gierzyńska Z.

Endokrynol Pol. 2010 Mar-Apr;61(2):217-9.

12.

Noninvasive prenatal genetic testing for fetal aneuploidy detects maternal trisomy X.

Yao H, Zhang L, Zhang H, Jiang F, Hu H, Chen F, Jiang H, Mu F, Zhao L, Liang Z, Wang W.

Prenat Diagn. 2012 Nov;32(11):1114-6. doi: 10.1002/pd.3946. Epub 2012 Aug 18. No abstract available.

PMID:
22903289
13.

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. Epub 2010 Dec 29. Review.

PMID:
21188402
14.

Genotyping by morphology...

Wondergem MJ, Ossenkoppele GJ.

Blood. 2011 Mar 3;117(9):2566. No abstract available.

15.

Bladder exstrophy-epispadias complex and triple-X syndrome: incidental finding or causality?

Ramaekers P, Loeys B, von Lowtzow C, Reutter H, Leroy Y, Colpaert C, Blaumeiser B, Janssens K, Parizel M, Jacquemyn Y.

Birth Defects Res A Clin Mol Teratol. 2014 Oct;100(10):797-800. doi: 10.1002/bdra.23299. Epub 2014 Sep 8.

PMID:
25200913
16.

First report of a patient with a mixoploidy 47,XXX/94,XXXXXX.

Rodríguez Criado G, Galán Gómez E, Tizzano EF, García Rodríguez E, Gómez de Terreros I.

Genet Couns. 2007;18(1):99-104.

PMID:
17515305
17.

47,XXX/45,X/46,XX mosaicism in a patient with Turner phenotype and spontaneous puberal development.

Brambila-Tapia AJ, Rivera H, García-Castillo H, Domínguez-Quezada MG, Dávalos-Rodríguez IP.

Fertil Steril. 2009 Nov;92(5):1747.e5-7. doi: 10.1016/j.fertnstert.2009.07.1008. Epub 2009 Sep 3.

PMID:
19732877
18.

BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1).

Schlade-Bartusiak K, Brown L, Lomax B, Bruyère H, Gillan T, Hamilton S, McGillivray B, Eydoux P.

Am J Med Genet A. 2012 Sep;158A(9):2322-7. doi: 10.1002/ajmg.a.35516. Epub 2012 Aug 6.

PMID:
22887799
19.

[Gonosomal trisomy syndrome. Five case reports and review of literature].

Schwemmle C, Jungheim M, Ptok M.

Laryngorhinootologie. 2013 Nov;92(11):725-31. doi: 10.1055/s-0033-1348249. Epub 2013 Aug 8. Review. German.

PMID:
23929211
20.

Prenatal diagnosis and prognosis of triple X syndrome: 47, XXX.

Ben Hamouda H, Mkacher N, Elghezal H, Bannour H, Kamoun M, Soua H, Saad A, Souissi MM, Sfar MT.

J Gynecol Obstet Biol Reprod (Paris). 2009 Nov;38(7):599-603. doi: 10.1016/j.jgyn.2009.08.003. Epub 2009 Sep 16.

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