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Results: 1 to 20 of 95

1.

An adolescent with 48,XXYY syndrome with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder and renal malformations.

Katulanda P, Rajapakse JR, Kariyawasam J, Jayasekara R, Dissanayake VH.

Indian J Endocrinol Metab. 2012 Sep;16(5):824-6. doi: 10.4103/2230-8210.100642.

PMID:
23087874
[PubMed]
Free PMC Article
2.

48, XXYY syndrome associated tremor.

Lote H, Fuller GN, Bain PG.

Pract Neurol. 2013 Aug;13(4):249-53. doi: 10.1136/practneurol-2012-000438. Epub 2013 Mar 13.

PMID:
23487807
[PubMed - indexed for MEDLINE]
3.

[48,XXYY men with azoospermia: How to manage infertility?].

Roche C, Sonigo C, Benmiloud-Tandjaoui N, Boujenah J, Benzacken B, Poncelet C, Hugues JN.

Gynecol Obstet Fertil. 2014 Jul-Aug;42(7-8):528-32. doi: 10.1016/j.gyobfe.2014.05.009. Epub 2014 Jun 13. French.

PMID:
24934769
[PubMed - in process]
4.

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
5.

A Sri Lankan child with 49,XXXXY syndrome.

Dissanayake VH, Bandarage P, Pedurupillay CR, Jayasekara RW.

Indian J Hum Genet. 2010 Sep;16(3):164-5. doi: 10.4103/0971-6866.73413.

PMID:
21206706
[PubMed]
Free PMC Article
6.

Ambiguous genitalia in a 48, XXYY newborn: a casual relationship or a coincidence?

Messina MF, Aversa T, Mamì C, Briuglia S, Panasiti I, De Luca F, Lombardo F.

J Pediatr Endocrinol Metab. 2013;26(9-10):921-3. doi: 10.1515/jpem-2013-0065.

PMID:
23729609
[PubMed - in process]
7.

A new look at XXYY syndrome: medical and psychological features.

Tartaglia N, Davis S, Hench A, Nimishakavi S, Beauregard R, Reynolds A, Fenton L, Albrecht L, Ross J, Visootsak J, Hansen R, Hagerman R.

Am J Med Genet A. 2008 Jun 15;146A(12):1509-22. doi: 10.1002/ajmg.a.32366.

PMID:
18481271
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Autism spectrum disorder and Klinefelter syndrome.

Jha P, Sheth D, Ghaziuddin M.

Eur Child Adolesc Psychiatry. 2007 Aug;16(5):305-8. Epub 2007 Mar 30.

PMID:
17401614
[PubMed - indexed for MEDLINE]
9.

[Cytogenetics and Y chromosome AZF microdeletions in infertile patients with mosaic karyotype Klinefelter syndrome (46,XY/47,XXY/48, XXYY/49,XXXXY)].

Tian L, Zhang JW, Shen CX, Du Y, Zhou X.

Zhonghua Nan Ke Xue. 2012 Jun;18(6):545-50. Chinese.

PMID:
22774613
[PubMed - indexed for MEDLINE]
10.

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
11.

[A case of 48 XXYY Klinefelter's syndrome].

Ikegami M, Hashimoto K, Onishi N, Iguchi M, Kiwamoto H, Kurita T.

Nihon Hinyokika Gakkai Zasshi. 1994 Dec;85(12):1781-3. Japanese.

PMID:
7869654
[PubMed - indexed for MEDLINE]
Free Article
12.

[Atypical presentation of Klinefelter syndrome].

Sanz Marcos N, Turón Viñas A, Ibáñez Toda L.

An Pediatr (Barc). 2013 Aug;79(2):112-5. doi: 10.1016/j.anpedi.2012.10.020. Epub 2012 Dec 21. Spanish.

PMID:
23265719
[PubMed - indexed for MEDLINE]
Free Article
13.

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
14.

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]
15.

Central precocious puberty in 48,XXYY Klinefelter syndrome variant.

Bertelloni S, Battini R, Baroncelli GI, Guerrini R, Viacava P, Spinelli C, Simi P.

J Pediatr Endocrinol Metab. 1999 May-Jun;12(3):459-65.

PMID:
10821227
[PubMed - indexed for MEDLINE]
16.

The 48,XXYY syndrome.

Sørensen K, Nielsen J, Jacobsen P, Rølle T.

J Ment Defic Res. 1978 Sep;22(3):197-205. No abstract available.

PMID:
568179
[PubMed - indexed for MEDLINE]
17.

[48,XXYY syndrome in a 4-year-old subject].

Cammarata M, Corsello G, Benigno V, Parisi M, Giuffrè L.

Pediatr Med Chir. 1986 Jan-Feb;8(1):135-6. Italian.

PMID:
3725607
[PubMed - indexed for MEDLINE]
18.

Dizygotic twin with XXYY chromosome aneuploidy and diffuse sexual orientation, with review of 30 XXYY cases.

Levison LH.

Arch Sex Behav. 1971 Sep;1(3):231-9. doi: 10.1007/BF01541685.

PMID:
24179068
[PubMed]
19.

[A clinical description and hormonal assessment of a 48, XXYY male. A comparison with cases previously published].

Barbería JJ, Lafita FJ, Menéndez EL, Rodríguez RM.

Rev Med Univ Navarra. 1990 Apr-Jun;34(2):97-9. Review. Spanish.

PMID:
2130427
[PubMed - indexed for MEDLINE]
20.

[Neurological aspects of two patients with non-mosaic and mosaic polysomy of the X and Y chromosomes].

Jakubowski L, Sabatowska M, Filipiak-Miastkowska I, Nadratowski P, Rutkowska A, Nowakowska D, Kałuzewski B.

Neurol Neurochir Pol. 1999 Jan-Feb;33(1):169-75. Polish.

PMID:
10399734
[PubMed - indexed for MEDLINE]

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