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Items: 1 to 20 of 23


Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism.

Bonomi M, Rochira V, Pasquali D, Balercia G, Jannini EA, Ferlin A; Klinefelter ItaliaN Group (KING).

J Endocrinol Invest. 2017 Feb;40(2):123-134. doi: 10.1007/s40618-016-0541-6. Epub 2016 Sep 19. Review.


Advances in the Interdisciplinary Care of Children with Klinefelter Syndrome.

Davis S, Howell S, Wilson R, Tanda T, Ross J, Zeitler P, Tartaglia N.

Adv Pediatr. 2016 Aug;63(1):15-46. doi: 10.1016/j.yapd.2016.04.020. Review. No abstract available.


A Track Record on SHOX: From Basic Research to Complex Models and Therapy.

Marchini A, Ogata T, Rappold GA.

Endocr Rev. 2016 Aug;37(4):417-48. doi: 10.1210/er.2016-1036. Epub 2016 Jun 29.


Combination of Klinefelter Syndrome and Acromegaly: A Rare Case Report.

Fang H, Xu J, Wu H, Fan H, Zhong L.

Medicine (Baltimore). 2016 Apr;95(17):e3444. doi: 10.1097/MD.0000000000003444.


XYY syndrome: a 13-year-old boy with tall stature.

Jo WH, Jung MK, Kim KE, Chae HW, Kim DH, Kwon AR, Kim HS.

Ann Pediatr Endocrinol Metab. 2015 Sep;20(3):170-3. doi: 10.6065/apem.2015.20.3.170. Epub 2015 Sep 30.


Short and tall stature: a new paradigm emerges.

Baron J, Sävendahl L, De Luca F, Dauber A, Phillip M, Wit JM, Nilsson O.

Nat Rev Endocrinol. 2015 Dec;11(12):735-46. doi: 10.1038/nrendo.2015.165. Epub 2015 Oct 6. Review.


Leydig cell tumor in a patient with 49,XXXXY karyotype: a review of literature.

Maqdasy S, Bogenmann L, Batisse-Lignier M, Roche B, Franck F, Desbiez F, Tauveron I.

Reprod Biol Endocrinol. 2015 Jul 10;13:72. doi: 10.1186/s12958-015-0071-7. Review.


Is microcephaly a so-far unrecognized feature of XYY syndrome?

Nguyen-Minh S, Bührer C, Hübner C, Kaindl AM.

Meta Gene. 2014 Jan 31;2:160-3. doi: 10.1016/j.mgene.2013.10.013. eCollection 2014 Dec.


A case-control study of brain structure and behavioral characteristics in 47,XXX syndrome.

Lenroot RK, Blumenthal JD, Wallace GL, Clasen LS, Lee NR, Giedd JN.

Genes Brain Behav. 2014 Nov;13(8):841-9. doi: 10.1111/gbb.12180. Epub 2014 Oct 27.


Genetic interactions between Shox2 and Hox genes during the regional growth and development of the mouse limb.

Neufeld SJ, Wang F, Cobb J.

Genetics. 2014 Nov;198(3):1117-26. doi: 10.1534/genetics.114.167460. Epub 2014 Sep 11.


Triangulating the sexually dimorphic brain through high-resolution neuroimaging of murine sex chromosome aneuploidies.

Raznahan A, Lue Y, Probst F, Greenstein D, Giedd J, Wang C, Lerch J, Swerdloff R.

Brain Struct Funct. 2015 Nov;220(6):3581-93. doi: 10.1007/s00429-014-0875-9. Epub 2014 Aug 22.


Chromosome X-wide association study identifies Loci for fasting insulin and height and evidence for incomplete dosage compensation.

Tukiainen T, Pirinen M, Sarin AP, Ladenvall C, Kettunen J, Lehtimäki T, Lokki ML, Perola M, Sinisalo J, Vlachopoulou E, Eriksson JG, Groop L, Jula A, Järvelin MR, Raitakari OT, Salomaa V, Ripatti S.

PLoS Genet. 2014 Feb 6;10(2):e1004127. doi: 10.1371/journal.pgen.1004127. eCollection 2014 Feb.


Brain morphology in children with 47, XYY syndrome: a voxel- and surface-based morphometric study.

Lepage JF, Hong DS, Raman M, Marzelli M, Roeltgen DP, Lai S, Ross J, Reiss AL.

Genes Brain Behav. 2014 Feb;13(2):127-34. doi: 10.1111/gbb.12107. Epub 2013 Dec 6.


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.


Brain morphological abnormalities in 49,XXXXY syndrome: A pediatric magnetic resonance imaging study.

Blumenthal JD, Baker EH, Lee NR, Wade B, Clasen LS, Lenroot RK, Giedd JN.

Neuroimage Clin. 2013;2:197-203.


Triple x syndrome with short stature: case report and literature review.

Li M, Zou C, Zhao Z.

Iran J Pediatr. 2012 Jun;22(2):269-73.


Dosage effects of X and Y chromosomes on language and social functioning in children with supernumerary sex chromosome aneuploidies: implications for idiopathic language impairment and autism spectrum disorders.

Lee NR, Wallace GL, Adeyemi EI, Lopez KC, Blumenthal JD, Clasen LS, Giedd JN.

J Child Psychol Psychiatry. 2012 Oct;53(10):1072-81. doi: 10.1111/j.1469-7610.2012.02573.x. Epub 2012 Jul 25.


Social deficits in male children and adolescents with sex chromosome aneuploidy: a comparison of XXY, XYY, and XXYY syndromes.

Cordeiro L, Tartaglia N, Roeltgen D, Ross J.

Res Dev Disabil. 2012 Jul-Aug;33(4):1254-63. doi: 10.1016/j.ridd.2012.02.013. Epub 2012 Mar 23.


Behavioral and social phenotypes in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome.

Ross JL, Roeltgen DP, Kushner H, Zinn AR, Reiss A, Bardsley MZ, McCauley E, Tartaglia N.

Pediatrics. 2012 Apr;129(4):769-78. doi: 10.1542/peds.2011-0719. Epub 2012 Mar 12.


Criminality in men with Klinefelter's syndrome and XYY syndrome: a cohort study.

Stochholm K, Bojesen A, Jensen AS, Juul S, Gravholt CH.

BMJ Open. 2012 Feb 22;2(1):e000650. doi: 10.1136/bmjopen-2011-000650. Print 2012.

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