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Results: 1 to 20 of 104

1.

Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing.

Liao C, Yin AH, Peng CF, Fu F, Yang JX, Li R, Chen YY, Luo DH, Zhang YL, Ou YM, Li J, Wu J, Mai MQ, Hou R, Wu F, Luo H, Li DZ, Liu HL, Zhang XZ, Zhang K.

Proc Natl Acad Sci U S A. 2014 May 20;111(20):7415-20. doi: 10.1073/pnas.1321997111. Epub 2014 May 5.

PMID:
24799683
[PubMed - indexed for MEDLINE]
2.

Prenatal diagnosis of gonosomal anomalies: limitations of the FISH method and genetic counseling difficulties in 15 cases.

Braha E, Martiniuc V, Panzaru M, Caba L, Butnariu L, Onofriescu M, Socolov D, Grigore M, Nemescu D, Mihălceanu E, Iliev G, Gorduza EV.

Rev Med Chir Soc Med Nat Iasi. 2013 Apr-Jun;117(2):450-6.

PMID:
24340530
[PubMed - indexed for MEDLINE]
3.

Oral health management of a patient with 47,XYY syndrome.

Shah AH, Manjunatha BS, Bindayel NA, Khounganian R.

BMJ Case Rep. 2013 Dec 5;2013. pii: bcr2013010408. doi: 10.1136/bcr-2013-010408.

PMID:
24311410
[PubMed - indexed for MEDLINE]
4.

Chromosomal abnormalities in patients with autism spectrum disorders from Taiwan.

Liao HM, Gau SS, Tsai WC, Fang JS, Su YC, Chou MC, Liu SK, Chou WJ, Wu YY, Chen CH.

Am J Med Genet B Neuropsychiatr Genet. 2013 Oct;162B(7):734-41. doi: 10.1002/ajmg.b.32153.

PMID:
24132905
[PubMed - indexed for MEDLINE]
5.

Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia.

Simpson NH, Addis L, Brandler WM, Slonims V, Clark A, Watson J, Scerri TS, Hennessy ER, Bolton PF, Conti-Ramsden G, Fairfax BP, Knight JC, Stein J, Talcott JB, O'Hare A, Baird G, Paracchini S, Fisher SE, Newbury DF; SLI Consortium.

Dev Med Child Neurol. 2014 Apr;56(4):346-53. doi: 10.1111/dmcn.12294. Epub 2013 Oct 9.

PMID:
24117048
[PubMed - indexed for MEDLINE]
6.

Chromosomal aberrations and aneuploidies of spermatozoa.

Piomboni P, Stendardi A, Gambera L.

Adv Exp Med Biol. 2014;791:27-52. doi: 10.1007/978-1-4614-7783-9_3. Review.

PMID:
23955671
[PubMed - indexed for MEDLINE]
7.

47,XYY syndrome: clinical phenotype and timing of ascertainment.

Bardsley MZ, Kowal K, Levy C, Gosek A, Ayari N, Tartaglia N, Lahlou N, Winder B, Grimes S, Ross JL.

J Pediatr. 2013 Oct;163(4):1085-94. doi: 10.1016/j.jpeds.2013.05.037. Epub 2013 Jun 27.

PMID:
23810129
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy.

Samango-Sprouse C, Banjevic M, Ryan A, Sigurjonsson S, Zimmermann B, Hill M, Hall MP, Westemeyer M, Saucier J, Demko Z, Rabinowitz M.

Prenat Diagn. 2013 Jul;33(7):643-9. doi: 10.1002/pd.4159. Epub 2013 Jun 20.

PMID:
23712453
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Posterior fossa malformations and sex chromosomes anomalies. Report of a case with XYY syndrome and overview of known associations.

Ulgiati F, Nicita F, Papetti L, Ursitti F, Di Maggio A, Tarani L, Spalice A.

Eur J Pediatr. 2013 Sep;172(9):1267-70. doi: 10.1007/s00431-013-2039-y. Epub 2013 May 22. Review.

PMID:
23695861
[PubMed - indexed for MEDLINE]
10.

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]
11.

Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma.

Mazloom AR, Džakula Ž, Oeth P, Wang H, Jensen T, Tynan J, McCullough R, Saldivar JS, Ehrich M, van den Boom D, Bombard AT, Maeder M, McLennan G, Meschino W, Palomaki GE, Canick JA, Deciu C.

Prenat Diagn. 2013 Jun;33(6):591-7. doi: 10.1002/pd.4127.

PMID:
23592550
[PubMed - indexed for MEDLINE]
12.

Nearly a third of abnormalities found after first-trimester screening are different than expected: 10-year experience from a single center.

Alamillo CM, Krantz D, Evans M, Fiddler M, Pergament E.

Prenat Diagn. 2013 Mar;33(3):251-6. doi: 10.1002/pd.4054. Epub 2013 Jan 27.

PMID:
23354915
[PubMed - indexed for MEDLINE]
13.

The use of fluorescence in situ hybridization in the diagnosis of hidden mosaicism: apropos of three cases of sex chromosome anomalies.

Maciel-Guerra AT, Paulo JD, Santos AP, Guaragna-Filho G, Andrade JG, Siviero-Miachon AA, Spinola-Castro AM, Guerra-Júnior G.

Arq Bras Endocrinol Metabol. 2012 Nov;56(8):545-51.

PMID:
23295296
[PubMed - indexed for MEDLINE]
Free Article
14.

Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies.

Jiang F, Ren J, Chen F, Zhou Y, Xie J, Dan S, Su Y, Xie J, Yin B, Su W, Zhang H, Wang W, Chai X, Lin L, Guo H, Li Q, Li P, Yuan Y, Pan X, Li Y, Liu L, Chen H, Xuan Z, Chen S, Zhang C, Zhang H, Tian Z, Zhang Z, Jiang H, Zhao L, Zheng W, Li S, Li Y, Wang J, Wang J, Zhang X.

BMC Med Genomics. 2012 Dec 1;5:57. doi: 10.1186/1755-8794-5-57.

PMID:
23198897
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Sex chromosomes and the brain: a study of neuroanatomy in XYY syndrome.

Bryant DM, Hoeft F, Lai S, Lackey J, Roeltgen D, Ross J, Reiss AL.

Dev Med Child Neurol. 2012 Dec;54(12):1149-56. doi: 10.1111/j.1469-8749.2012.04418.x. Epub 2012 Oct 12.

PMID:
23057627
[PubMed - indexed for MEDLINE]
16.

Early manifestations in a cohort of children prenatally diagnosed with 47,XYY. Role of multidisciplinary counseling for parental guidance and prevention of aggressive behavior.

Lalatta F, Folliero E, Cavallari U, Di Segni M, Gentilin B, Fogliani R, Quagliarini D, Vizziello P, Monti F, Gargantini L.

Ital J Pediatr. 2012 Oct 3;38:52. doi: 10.1186/1824-7288-38-52.

PMID:
23034220
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Socio-economic factors affect mortality in 47,XYY syndrome-A comparison with the background population and Klinefelter syndrome.

Stochholm K, Juul S, Gravholt CH.

Am J Med Genet A. 2012 Oct;158A(10):2421-9. doi: 10.1002/ajmg.a.35539. Epub 2012 Aug 14.

PMID:
22893477
[PubMed - indexed for MEDLINE]
18.

Excellence, deviance, and gender: lessons from the XYY episode.

Shani R, Barilan YM.

Am J Bioeth. 2012;12(7):27-30. doi: 10.1080/15265161.2012.681338. No abstract available.

PMID:
22694029
[PubMed - indexed for MEDLINE]
19.

Down-Klinefelter syndrome (48,XXY,+21) in a child with congenital heart disease: case report and literature review.

Shen Z, Zou CC, Shang SQ, Jiang KW.

Intern Med. 2012;51(11):1371-4. Epub 2012 Jun 1. Review.

PMID:
22687844
[PubMed - indexed for MEDLINE]
Free Article
20.

The clinical and genetic heterogeneity of mixed gonadal dysgenesis: does "disorders of sexual development (DSD)" classification based on new Chicago consensus cover all sex chromosome DSD?

Ocal G, Berberoğlu M, Sıklar Z, Ruhi HI, Tükün A, Camtosun E, Savaş Erdeve S, Hacıhamdioğlu B, Fitöz S.

Eur J Pediatr. 2012 Oct;171(10):1497-502. Epub 2012 May 30.

PMID:
22644991
[PubMed - indexed for MEDLINE]

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