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Results: 1 to 20 of 57

1.

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
[PubMed - indexed for MEDLINE]
2.

A mother with variant Turner syndrome and two daughters with trisomy X: a case report.

Ramachandram S, Keng WT, Ariffin R, Ganesan V.

J Genet. 2013;92(2):313-6. No abstract available.

PMID:
23970090
[PubMed - indexed for MEDLINE]
Free Article
3.

Cognitive and medical features of chromosomal aneuploidy.

Hutaff-Lee C, Cordeiro L, Tartaglia N.

Handb Clin Neurol. 2013;111:273-9. doi: 10.1016/B978-0-444-52891-9.00030-0. Review.

PMID:
23622175
[PubMed - indexed for MEDLINE]
4.

Poor socio-economic status in 47,XXX --an unexpected effect of an extra X chromosome.

Stochholm K, Juul S, Gravholt CH.

Eur J Med Genet. 2013 Jun;56(6):286-91. doi: 10.1016/j.ejmg.2013.03.008. Epub 2013 Mar 28.

PMID:
23542668
[PubMed - indexed for MEDLINE]
5.

Fetal axillary cystic hygroma: a novel association with triple X syndrome.

Iskender C, Tarım E, Cok T, Yalcinkaya C, Kalaycı H, Sahin F.

Birth Defects Res A Clin Mol Teratol. 2012 Nov;94(11):955-7. doi: 10.1002/bdra.23083. Epub 2012 Oct 26.

PMID:
23109196
[PubMed - indexed for MEDLINE]
6.

Three peaks in the polymerase chain reaction fragile X analysis.

Sharony R, Shtorch A, Amiel A, Guetta E, Peleg L, Pras E, Ries-Levavi L.

J Med Screen. 2012 Sep;19(3):112-5. doi: 10.1258/jms.2012.012029.

PMID:
23093728
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

Abstracts of the XXX International Congress of Psychology. July 22-27, 2012. Cape Town, South Africa.

[No authors listed]

Int J Psychol. 2012;47 Suppl 1:1-793. No abstract available.

PMID:
22852137
[PubMed - indexed for MEDLINE]
11.

Familial Turner syndrome with an X;Y translocation mosaicism: implications for genetic counseling.

Portnoï MF, Chantot-Bastaraud S, Christin-Maitre S, Carbonne B, Beaujard MP, Keren B, Lévy J, Dommergues M, Cabrol S, Hyon C, Siffroi JP.

Eur J Med Genet. 2012 Nov;55(11):635-40. doi: 10.1016/j.ejmg.2012.07.001. Epub 2012 Jul 15.

PMID:
22809487
[PubMed - indexed for MEDLINE]
12.

Triple X syndrome.

Afshan A.

J Pak Med Assoc. 2012 Apr;62(4):392-4.

PMID:
22755288
[PubMed - indexed for MEDLINE]
13.

45,X/46,XX/47,XXX mosaicism.

Trovó de Marqui AB, da Silva Grecco RL, da Cunha Palhares HM, de Fátima Borges M, Balarin MA.

Pediatr Int. 2012 Jun;54(3):437-8. doi: 10.1111/j.1442-200X.2012.03626.x. No abstract available.

PMID:
22631578
[PubMed - indexed for MEDLINE]
14.

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.

PMID:
22582855
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Combining ultracentrifugation and peptide termini group-specific immunoprecipitation for multiplex plasma protein analysis.

Volk S, Schreiber TD, Eisen D, Wiese C, Planatscher H, Pynn CJ, Stoll D, Templin MF, Joos TO, Pötz O.

Mol Cell Proteomics. 2012 Jul;11(7):O111.015438. doi: 10.1074/mcp.O111.015438. Epub 2012 Apr 23.

PMID:
22527512
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Autism in association with Triple X syndrome.

Ali SI, Byrne N, Mulligan A.

Eur Child Adolesc Psychiatry. 2012 Apr;21(4):233-5. doi: 10.1007/s00787-012-0248-y. Epub 2012 Feb 4. No abstract available.

PMID:
22311144
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

Application of microsatellite loci on the chromosome X for rapid prenatal detection of the chromosome X numerical abnormalities.

Crkvenac Gornik K, Grubić Z, Stingl K, Tonković Durisević I, Begović D.

Croat Med J. 2011 Jun;52(3):392-5.

PMID:
21674836
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.

Caciotti A, Garman SC, Rivera-Colón Y, Procopio E, Catarzi S, Ferri L, Guido C, Martelli P, Parini R, Antuzzi D, Battini R, Sibilio M, Simonati A, Fontana E, Salviati A, Akinci G, Cereda C, Dionisi-Vici C, Deodato F, d'Amico A, d'Azzo A, Bertini E, Filocamo M, Scarpa M, di Rocco M, Tifft CJ, Ciani F, Gasperini S, Pasquini E, Guerrini R, Donati MA, Morrone A.

Biochim Biophys Acta. 2011 Jul;1812(7):782-90. doi: 10.1016/j.bbadis.2011.03.018. Epub 2011 Apr 7.

PMID:
21497194
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Pre-natal, clonal origin of t(1;11)(p32;q23) acute lymphoblastic leukemia in monozygotic twins.

Kotecha RS, Murch A, Kees U, Cole CH.

Leuk Res. 2012 Jan;36(1):46-50. doi: 10.1016/j.leukres.2011.03.014. Epub 2011 Apr 6.

PMID:
21474181
[PubMed - indexed for MEDLINE]

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