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Results: 19

1.

Retinal dysfunction and high myopia in association with 48,XXYY syndrome.

Karampelas M, Gardner J, Holder G, Hardcastle A, Webster A.

Doc Ophthalmol. 2013 Dec;127(3):245-7. doi: 10.1007/s10633-013-9406-x. Epub 2013 Sep 19.

PMID:
24048723
[PubMed - indexed for MEDLINE]
2.

Prenatal ultrasound diagnosis of a 48,XXYY syndrome.

Kemeny S, Pebrel-Richard C, Gouas L, Veronese L, Lemery D, Tchirkov A, Goumy C, Vago P.

Morphologie. 2013 Jun;97(317):65-7. doi: 10.1016/j.morpho.2013.01.001. Epub 2013 Mar 7.

PMID:
23473874
[PubMed - indexed for MEDLINE]
3.

Timing of diagnosis of 47,XXY and 48,XXYY: a survey of parent experiences.

Visootsak J, Ayari N, Howell S, Lazarus J, Tartaglia N.

Am J Med Genet A. 2013 Feb;161A(2):268-72. doi: 10.1002/ajmg.a.35709. Epub 2013 Jan 15.

PMID:
23322622
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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
5.

Duane syndrome in association with 48,XXYY karyotype.

Weis A, Bialer MG, Kodsi S.

J AAPOS. 2011 Jun;15(3):295-6. doi: 10.1016/j.jaapos.2011.03.007. Epub 2011 Jun 15.

PMID:
21680214
[PubMed - indexed for MEDLINE]
6.

Chromosomal variants in klinefelter syndrome.

Frühmesser A, Kotzot D.

Sex Dev. 2011;5(3):109-23. doi: 10.1159/000327324. Epub 2011 Apr 29. Review.

PMID:
21540567
[PubMed - indexed for MEDLINE]
7.

48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome.

Tartaglia N, Ayari N, Howell S, D'Epagnier C, Zeitler P.

Acta Paediatr. 2011 Jun;100(6):851-60. doi: 10.1111/j.1651-2227.2011.02235.x. Epub 2011 Apr 8. Review.

PMID:
21342258
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy.

Ottesen AM, Aksglaede L, Garn I, Tartaglia N, Tassone F, Gravholt CH, Bojesen A, Sørensen K, Jørgensen N, Rajpert-De Meyts E, Gerdes T, Lind AM, Kjaergaard S, Juul A.

Am J Med Genet A. 2010 May;152A(5):1206-12. doi: 10.1002/ajmg.a.33334.

PMID:
20425825
[PubMed - indexed for MEDLINE]
9.

Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY, XXXY.

Visootsak J, Graham JM Jr.

Dev Disabil Res Rev. 2009;15(4):328-32. doi: 10.1002/ddrr.76.

PMID:
20014367
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

A case of 48,XXYY syndrome detected prenatally by QF-PCR.

Zhang QS, Li DZ.

J Matern Fetal Neonatal Med. 2009 Dec;22(12):1214-6. doi: 10.3109/14767050903026465.

PMID:
19916722
[PubMed - indexed for MEDLINE]
11.

Tremor in 48,XXYY syndrome.

Tartaglia N, Borodyanskaya M, Hall DA.

Mov Disord. 2009 Oct 15;24(13):2001-7. doi: 10.1002/mds.22700. Erratum in: Mov Disord. 2010 Aug 15;25(11):1764. Borodyanskya, Mariya [corrected to Borodyanskaya, Mariya].

PMID:
19705466
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Endocrine function in a 48,XXYY adult with type 2 diabetes: case report with a review of the literature.

Dubois S, Illouz F, Pinson L, Bonneau D, Rohmer V, Guichet A.

Ann Endocrinol (Paris). 2007 Oct;68(5):384-8. Epub 2007 Sep 11.

PMID:
17850758
[PubMed - indexed for MEDLINE]
13.

Behavioral phenotype of sex chromosome aneuploidies: 48,XXYY, 48,XXXY, and 49,XXXXY.

Visootsak J, Rosner B, Dykens E, Tartaglia N, Graham JM Jr.

Am J Med Genet A. 2007 Jun 1;143A(11):1198-203.

PMID:
17497714
[PubMed - indexed for MEDLINE]
14.

Klinefelter syndrome and other sex chromosomal aneuploidies.

Visootsak J, Graham JM Jr.

Orphanet J Rare Dis. 2006 Oct 24;1:42. Review.

PMID:
17062147
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome.

Mitra A, Dada R, Kumar R, Gupta NP, Kucheria K, Gupta SK.

Asian J Androl. 2006 Jan;8(1):81-8.

PMID:
16372123
[PubMed - indexed for MEDLINE]
Free Article
16.

Cancer incidence and mortality in men with Klinefelter syndrome: a cohort study.

Swerdlow AJ, Schoemaker MJ, Higgins CD, Wright AF, Jacobs PA; UK Clinical Cytogenetics Group.

J Natl Cancer Inst. 2005 Aug 17;97(16):1204-10.

PMID:
16106025
[PubMed - indexed for MEDLINE]
Free Article
17.

48,XXYY syndrome, mood disorder, and aggression.

Lolak S, Dannemiller E, Andres F.

Am J Psychiatry. 2005 Jul;162(7):1384. No abstract available.

PMID:
15994727
[PubMed - indexed for MEDLINE]
18.

Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6.

Visootsak J, Rosner B, Dykens E, Schwartz C, Hahn K, White SM, Szeftel R, Graham JM.

J Pediatr. 2004 Dec;145(6):819-25.

PMID:
15580208
[PubMed - indexed for MEDLINE]
19.

Molecular and cytogenetic characterization of a non-mosaic isodicentric Y chromosome in a patient with Klinefelter syndrome.

Heinritz W, Kotzot D, Heinze S, Kujat A, Kleemann WJ, Froster UG.

Am J Med Genet A. 2005 Jan 15;132A(2):198-201.

PMID:
15578587
[PubMed - indexed for MEDLINE]

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