Klinefelter syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Klinefelter syndrome" in English language version.

refsWebsite

Global rank English rank

66nih.gov

4^th place

45doi.org

2^nd place

20web.archive.org

1^st place

10semanticscholar.org

11^th place

8^th place

5worldcat.org

5^th place

3handle.net

102^nd place

76^th place

3medscape.com

719^th place

636^th place

2library.nhs.uk

low place

2harvard.edu

18^th place

17^th place

2books.google.com

3^rd place

1nhs.uk

1,989^th place

1,528^th place

1mayoclinic.org

1,610^th place

1,279^th place

1uspharmacist.com

low place

1caltech.edu

887^th place

714^th place

1karger.com

4,489^th place

4,454^th place

1fertstert.org

low place

1biomedsearch.com

low place

biomedsearch.com

"The Klinefelter-Reifenstein-Albright syndrome". Biomedsearch.com. Archived from the original on 2017-08-27. Retrieved 26 August 2017.

books.google.com

Conn PM (2013). Animal models for the study of human disease (First ed.). San Diego: Elsevier Science & Technology Books. p. 780. doi:10.1016/C2011-0-05225-0. ISBN 9780124159129. Archived from the original on September 10, 2017. Retrieved February 9, 2017.
Odom SL (2009). Handbook of developmental disabilities (Pbk. ed.). New York: Guilford. p. 113. ISBN 9781606232484. Archived from the original on 2017-09-10. Retrieved 2017-09-02.

caltech.edu

resolver.caltech.edu

Boone KB, Swerdloff RS, Miller BL, Geschwind DH, Razani J, Lee A, et al. (May 2001). "Neuropsychological profiles of adults with Klinefelter syndrome". Journal of the International Neuropsychological Society. 7 (4): 446–456. doi:10.1017/S1355617701744013. PMID 11396547. S2CID 145642384.

doi.org

Simonetti L, Ferreira LG, Vidi AC, de Souza JS, Kunii IS, Melaragno MI, et al. (2021). "Intelligence Quotient Variability in Klinefelter Syndrome Is Associated With GTPBP6 Expression Under Regulation of X-Chromosome Inactivation Pattern". Frontiers in Genetics. 12: 724625. doi:10.3389/fgene.2021.724625. PMC 8488338. PMID 34616429.
Visootsak J, Graham JM (October 2006). "Klinefelter syndrome and other sex chromosomal aneuploidies". Orphanet Journal of Rare Diseases. 1: 42. doi:10.1186/1750-1172-1-42. PMC 1634840. PMID 17062147.
Klinefelter, Harry Fitch Jr. (September 1986). "Klinefelter's syndrome: historical background and development". Southern Medical Journal. 79 (9): 1089–1093. doi:10.1097/00007611-198609000-00012. PMID 3529433.
Visootsak, Jeannie; Graham, John M (2006-10-24). "Klinefelter syndrome and other sex chromosomal aneuploidies". Orphanet Journal of Rare Diseases. 1 (1): 42. doi:10.1186/1750-1172-1-42. ISSN 1750-1172. PMC 1634840. PMID 17062147.
Kanakis, George A.; Nieschlag, Eberhard (September 2018). "Klinefelter syndrome: more than hypogonadism". Metabolism. 86: 135–144. doi:10.1016/j.metabol.2017.09.017. PMID 29382506. S2CID 3702209.
Raheem, Amr Abdel (February 12, 2021). "The Impact and Management of Gynaecomastia in Klinefelter Syndrome". Frontiers in Reproductive Health. 3. doi:10.3389/frph.2021.629673. PMC 9580767. PMID 36303983.
Denschlag D, Tempfer C, Kunze M, Wolff G, Keck C (October 2004). "Assisted reproductive techniques in patients with Klinefelter syndrome: a critical review". Fertility and Sterility. 82 (4): 875–879. doi:10.1016/j.fertnstert.2003.09.085. PMID 15482743.
Graham JM, Bashir AS, Stark RE, Silbert A, Walzer S (June 1988). "Oral and written language abilities of XXY boys: implications for anticipatory guidance". Pediatrics. 81 (6): 795–806. doi:10.1542/peds.81.6.795. PMID 3368277. S2CID 26098458.
Boone KB, Swerdloff RS, Miller BL, Geschwind DH, Razani J, Lee A, et al. (May 2001). "Neuropsychological profiles of adults with Klinefelter syndrome". Journal of the International Neuropsychological Society. 7 (4): 446–456. doi:10.1017/S1355617701744013. PMID 11396547. S2CID 145642384.
Skakkebæk A, Moore PJ, Pedersen AD, Bojesen A, Kristensen MK, Fedder J, et al. (November 9, 2018). "Anxiety and depression in Klinefelter syndrome: The impact of personality and social engagement". PLOS ONE. 13 (11): e0206932. Bibcode:2018PLoSO..1306932S. doi:10.1371/journal.pone.0206932. PMC 6226182. PMID 30412595.
Skakkebæk A, Moore PJ, Pedersen AD, Bojesen A, Kristensen MK, Fedder J, et al. (March 2017). "The role of genes, intelligence, personality, and social engagement in cognitive performance in Klinefelter syndrome". Brain and Behavior. 7 (3): e00645. doi:10.1002/brb3.645. PMC 5346527. PMID 28293480.
de Vries AL, Roehle R, Marshall L, Frisén L, van de Grift TC, Kreukels BP, et al. (September 2019). "Mental Health of a Large Group of Adults With Disorders of Sex Development in Six European Countries". Psychosomatic Medicine. 81 (7): 629–640. doi:10.1097/PSY.0000000000000718. PMC 6727927. PMID 31232913.
Conn PM (2013). Animal models for the study of human disease (First ed.). San Diego: Elsevier Science & Technology Books. p. 780. doi:10.1016/C2011-0-05225-0. ISBN 9780124159129. Archived from the original on September 10, 2017. Retrieved February 9, 2017.
Bender BG, Harmon RJ, Linden MG, Robinson A (August 1995). "Psychosocial adaptation of 39 adolescents with sex chromosome abnormalities". Pediatrics. 96 (2 Pt 1): 302–308. doi:10.1542/peds.96.2.302. PMID 7630689. S2CID 36072015.
Salzano A, Arcopinto M, Marra AM, Bobbio E, Esposito D, Accardo G, et al. (July 2016). "Klinefelter syndrome, cardiovascular system, and thromboembolic disease: review of literature and clinical perspectives". European Journal of Endocrinology. 175 (1): R27–R40. doi:10.1530/EJE-15-1025. PMID 26850445.
Nieschlag E (May 2013). "Klinefelter syndrome: the commonest form of hypogonadism, but often overlooked or untreated". Deutsches Ärzteblatt International. 110 (20): 347–353. doi:10.3238/arztebl.2013.0347. PMC 3674537. PMID 23825486.
Gravholt CH, Chang S, Wallentin M, Fedder J, Moore P, Skakkebæk A (August 2018). "Klinefelter Syndrome: Integrating Genetics, Neuropsychology, and Endocrinology". Endocrine Reviews. 39 (4): 389–423. doi:10.1210/er.2017-00212. PMID 29438472.
Bojesen A, Juul S, Gravholt CH (February 2003). "Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study". The Journal of Clinical Endocrinology and Metabolism. 88 (2): 622–626. doi:10.1210/jc.2002-021491. PMID 12574191.
Tüttelmann F, Gromoll J (June 2010). "Novel genetic aspects of Klinefelter's syndrome". Molecular Human Reproduction. 16 (6): 386–395. doi:10.1093/molehr/gaq019. PMID 20228051.
Chow JC, Yen Z, Ziesche SM, Brown CJ (2005-09-01). "Silencing of the mammalian X chromosome". Annual Review of Genomics and Human Genetics. 6 (1): 69–92. doi:10.1146/annurev.genom.6.080604.162350. PMID 16124854.
Blaschke RJ, Rappold G (June 2006). "The pseudoautosomal regions, SHOX and disease". Current Opinion in Genetics & Development. Genetics of disease. 16 (3): 233–239. doi:10.1016/j.gde.2006.04.004. PMID 16650979.
Linden MG, Bender BG, Robinson A (October 1995). "Sex chromosome tetrasomy and pentasomy". Pediatrics. 96 (4 Pt 1): 672–682. doi:10.1542/peds.96.4.672. PMID 7567329.
Frühmesser, A.; Kotzot, D. (29 April 2011). "Chromosomal Variants in Klinefelter Syndrome". Sexual Development. 5 (3): 109–123. doi:10.1159/000327324. PMID 21540567. Retrieved 24 April 2024.
Samplaski MK, Lo KC, Grober ED, Millar A, Dimitromanolakis A, Jarvi KA (April 2014). "Phenotypic differences in mosaic Klinefelter patients as compared with non-mosaic Klinefelter patients". Fertility and Sterility. 101 (4): 950–955. doi:10.1016/j.fertnstert.2013.12.051. PMID 24502895. Archived from the original on 11 October 2020. Retrieved 13 June 2020.
Velissariou V, Christopoulou S, Karadimas C, Pihos I, Kanaka-Gantenbein C, Kapranos N, et al. (2006). "Rare XXY/XX mosaicism in a phenotypic male with Klinefelter syndrome: case report". European Journal of Medical Genetics. 49 (4): 331–337. doi:10.1016/j.ejmg.2005.09.001. PMID 16829354.
Kinjo K, Yoshida T, Kobori Y, Okada H, Suzuki E, Ogata T, Miyado M, Fukami M (January 2020). "Random X chromosome inactivation in patients with Klinefelter syndrome". Molecular and Cellular Pediatrics. 7 (1): 1. doi:10.1186/s40348-020-0093-x. PMC 6979883. PMID 31974854.
Samplaski MK, Lo KC, Grober ED, Millar A, Dimitromanolakis A, Jarvi KA (2014). "Phenotypic differences in mosaic Klinefelter patients as compared with non-mosaic Klinefelter patients". Fertility and Sterility. 101 (4): 950–955. doi:10.1016/j.fertnstert.2013.12.051. PMID 24502895.
Kamischke A, Baumgardt A, Horst J, Nieschlag E (Jan–Feb 2003). "Clinical and diagnostic features of patients with suspected Klinefelter syndrome". Journal of Andrology. 24 (1): 41–48. doi:10.1002/j.1939-4640.2003.tb02638.x. PMID 12514081. S2CID 25133531.
Abramsky L, Chapple J (April 1997). "47,XXY (Klinefelter syndrome) and 47,XYY: estimated rates of and indication for postnatal diagnosis with implications for prenatal counselling". Prenatal Diagnosis. 17 (4): 363–368. doi:10.1002/(SICI)1097-0223(199704)17:4<363::AID-PD79>3.0.CO;2-O. PMID 9160389. S2CID 25935518.
Bojesen A, Juul S, Birkebaek N, Gravholt CH (August 2004). "Increased mortality in Klinefelter syndrome". The Journal of Clinical Endocrinology and Metabolism. 89 (8): 3830–3834. doi:10.1210/jc.2004-0777. PMID 15292313.
Swerdlow AJ, Higgins CD, Schoemaker MJ, Wright AF, Jacobs PA (December 2005). "Mortality in patients with Klinefelter syndrome in Britain: a cohort study". The Journal of Clinical Endocrinology and Metabolism. 90 (12): 6516–6522. doi:10.1210/jc.2005-1077. PMID 16204366.
Groth KA, Skakkebæk A, Høst C, Gravholt CH, Bojesen A (January 2013). "Clinical review: Klinefelter syndrome--a clinical update". The Journal of Clinical Endocrinology and Metabolism. 98 (1): 20–30. doi:10.1210/jc.2012-2382. PMID 23118429.
Corona G, Pizzocaro A, Lanfranco F, Garolla A, Pelliccione F, Vignozzi L, et al. (May 2017). "Sperm recovery and ICSI outcomes in Klinefelter syndrome: a systematic review and meta-analysis". Human Reproduction Update. 23 (3): 265–275. doi:10.1093/humupd/dmx008. hdl:2318/1633550. PMID 28379559.
Fullerton G, Hamilton M, Maheshwari A (March 2010). "Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009?". Human Reproduction. 25 (3): 588–597. doi:10.1093/humrep/dep431. PMID 20085911.
Klinefelter Jr HF, Reifenstein Jr EC, Albright Jr F (1942). "Syndrome characterized by gynecomastia, aspermatogenesis without a-Leydigism and increased excretion of follicle-stimulating hormone". The Journal of Clinical Endocrinology & Metabolism. 2 (11): 615–624. doi:10.1210/jcem-2-11-615.
Jacobs PA, Strong JA (January 1959). "A case of human intersexuality having a possible XXY sex-determining mechanism". Nature. 183 (4657): 302–303. Bibcode:1959Natur.183..302J. doi:10.1038/183302a0. PMID 13632697. S2CID 38349997.
Roca-Rada X, Tereso S, Rohrlach AB, Brito A, Williams MP, Umbelino C, et al. (August 2022). "A 1000-year-old case of Klinefelter's syndrome diagnosed by integrating morphology, osteology, and genetics". Lancet. 400 (10353): 691–692. doi:10.1016/S0140-6736(22)01476-3. hdl:10316/101524. PMID 36030812. S2CID 251817711.
Moilanen U, Kirkinen T, Saari NJ, Rohrlach AB, Krause J, Onkamo P, Salmela E (2021-07-15). "A Woman with a Sword? – Weapon Grave at Suontaka Vesitorninmäki, Finland". European Journal of Archaeology. 25. Cambridge University Press: 42–60. doi:10.1017/eaa.2021.30. hdl:10138/340641. ISSN 1461-9571.
Robinson, Arthur; Bender, Bruce G.; Linden, Mary G. (1992). "Prognosis of prenatally diagnosed children with sex chromosome aneuploidy". American Journal of Medical Genetics. 44 (3): 365–368. doi:10.1002/ajmg.1320440319. ISSN 0148-7299.
Maclean N, Harnden DG, Court Brown WM (August 1961). "Abnormalities of sex chromosome constitution in newborn babies". Lancet. 2 (7199): 406–408. doi:10.1016/S0140-6736(61)92486-2. PMID 13764957.
Visootsak J, Aylstock M, Graham JM (December 2001). "Klinefelter syndrome and its variants: an update and review for the primary pediatrician". Clinical Pediatrics. 40 (12): 639–651. doi:10.1177/000992280104001201. PMID 11771918. S2CID 43040200.
Matlach J, Grehn F, Klink T (Jan 2012). "Klinefelter syndrome associated with goniodysgenesis". Journal of Glaucoma. 22 (5): e7–e8. doi:10.1097/IJG.0b013e31824477ef. PMID 22274665. S2CID 30565002.
Cai, Valerie; Yap, Tet (2022). "Gender Identity and Questioning in Klinefelter's Syndrome". BJPsych Open. 8 (S1). Royal College of Psychiatrists: S44–S45. doi:10.1192/bjo.2022.176. ISSN 2056-4724. PMC 9378311.
Liang, Bonnie; Cheung, Ada S.; Nolan, Brendan J. (2022-04-15). "Clinical features and prevalence of Klinefelter syndrome in transgender individuals: A systematic review". Clinical Endocrinology. 97 (1). Wiley: 3–12. doi:10.1111/cen.14734. ISSN 0300-0664. PMC 9540025. PMID 35394664.

dx.doi.org

Robinson, Arthur; Bender, Bruce G.; Linden, Mary G. (1992). "Prognosis of prenatally diagnosed children with sex chromosome aneuploidy". American Journal of Medical Genetics. 44 (3): 365–368. doi:10.1002/ajmg.1320440319. ISSN 0148-7299.

fertstert.org

Samplaski MK, Lo KC, Grober ED, Millar A, Dimitromanolakis A, Jarvi KA (April 2014). "Phenotypic differences in mosaic Klinefelter patients as compared with non-mosaic Klinefelter patients". Fertility and Sterility. 101 (4): 950–955. doi:10.1016/j.fertnstert.2013.12.051. PMID 24502895. Archived from the original on 11 October 2020. Retrieved 13 June 2020.

handle.net

hdl.handle.net

Corona G, Pizzocaro A, Lanfranco F, Garolla A, Pelliccione F, Vignozzi L, et al. (May 2017). "Sperm recovery and ICSI outcomes in Klinefelter syndrome: a systematic review and meta-analysis". Human Reproduction Update. 23 (3): 265–275. doi:10.1093/humupd/dmx008. hdl:2318/1633550. PMID 28379559.
Roca-Rada X, Tereso S, Rohrlach AB, Brito A, Williams MP, Umbelino C, et al. (August 2022). "A 1000-year-old case of Klinefelter's syndrome diagnosed by integrating morphology, osteology, and genetics". Lancet. 400 (10353): 691–692. doi:10.1016/S0140-6736(22)01476-3. hdl:10316/101524. PMID 36030812. S2CID 251817711.
Moilanen U, Kirkinen T, Saari NJ, Rohrlach AB, Krause J, Onkamo P, Salmela E (2021-07-15). "A Woman with a Sword? – Weapon Grave at Suontaka Vesitorninmäki, Finland". European Journal of Archaeology. 25. Cambridge University Press: 42–60. doi:10.1017/eaa.2021.30. hdl:10138/340641. ISSN 1461-9571.

harvard.edu

ui.adsabs.harvard.edu

Skakkebæk A, Moore PJ, Pedersen AD, Bojesen A, Kristensen MK, Fedder J, et al. (November 9, 2018). "Anxiety and depression in Klinefelter syndrome: The impact of personality and social engagement". PLOS ONE. 13 (11): e0206932. Bibcode:2018PLoSO..1306932S. doi:10.1371/journal.pone.0206932. PMC 6226182. PMID 30412595.
Jacobs PA, Strong JA (January 1959). "A case of human intersexuality having a possible XXY sex-determining mechanism". Nature. 183 (4657): 302–303. Bibcode:1959Natur.183..302J. doi:10.1038/183302a0. PMID 13632697. S2CID 38349997.

karger.com

Frühmesser, A.; Kotzot, D. (29 April 2011). "Chromosomal Variants in Klinefelter Syndrome". Sexual Development. 5 (3): 109–123. doi:10.1159/000327324. PMID 21540567. Retrieved 24 April 2024.

library.nhs.uk

GenePool (October 17, 2005). "Klinefelter syndrome". Clinical Genetics Specialist Library. Archived from the original on September 27, 2007. Retrieved November 29, 2023.
Leask K (October 2005). "Klinefelter syndrome". National Library for Health, Specialist Libraries, Clinical Genetics. National Library for Health. Archived from the original on 2007-09-27. Retrieved 2007-04-07.

mayoclinic.org

"Klinefelter Syndrome". Mayo Clinic. Archived from the original on 8 September 2020. Retrieved 27 August 2020.

medscape.com

emedicine.medscape.com

Defendi GL (January 31, 2022). Rohena LO (ed.). "Klinefelter Syndrome". Medscape. Drugs & Diseases: Pediatrics: Genetics and Metabolic Disease.
Harold Chen. "Klinefelter Syndrome – Treatment". medscape.com. Archived from the original on 2 July 2012. Retrieved 4 September 2012.

reference.medscape.com

Puscheck, Elizabeth (June 16, 2023). "Early Pregnancy Loss". Medscape. Retrieved June 28, 2024.

nhs.uk

"Klinefelter syndrome". National Health Service. 20 February 2023. Archived from the original on 17 January 2024. Retrieved 29 January 2024.

nih.gov

pubmed.ncbi.nlm.nih.gov

Simonetti L, Ferreira LG, Vidi AC, de Souza JS, Kunii IS, Melaragno MI, et al. (2021). "Intelligence Quotient Variability in Klinefelter Syndrome Is Associated With GTPBP6 Expression Under Regulation of X-Chromosome Inactivation Pattern". Frontiers in Genetics. 12: 724625. doi:10.3389/fgene.2021.724625. PMC 8488338. PMID 34616429.
Visootsak J, Graham JM (October 2006). "Klinefelter syndrome and other sex chromosomal aneuploidies". Orphanet Journal of Rare Diseases. 1: 42. doi:10.1186/1750-1172-1-42. PMC 1634840. PMID 17062147.
Klinefelter, Harry Fitch Jr. (September 1986). "Klinefelter's syndrome: historical background and development". Southern Medical Journal. 79 (9): 1089–1093. doi:10.1097/00007611-198609000-00012. PMID 3529433.
Visootsak, Jeannie; Graham, John M (2006-10-24). "Klinefelter syndrome and other sex chromosomal aneuploidies". Orphanet Journal of Rare Diseases. 1 (1): 42. doi:10.1186/1750-1172-1-42. ISSN 1750-1172. PMC 1634840. PMID 17062147.
Kanakis, George A.; Nieschlag, Eberhard (September 2018). "Klinefelter syndrome: more than hypogonadism". Metabolism. 86: 135–144. doi:10.1016/j.metabol.2017.09.017. PMID 29382506. S2CID 3702209.
Raheem, Amr Abdel (February 12, 2021). "The Impact and Management of Gynaecomastia in Klinefelter Syndrome". Frontiers in Reproductive Health. 3. doi:10.3389/frph.2021.629673. PMC 9580767. PMID 36303983.
Denschlag D, Tempfer C, Kunze M, Wolff G, Keck C (October 2004). "Assisted reproductive techniques in patients with Klinefelter syndrome: a critical review". Fertility and Sterility. 82 (4): 875–879. doi:10.1016/j.fertnstert.2003.09.085. PMID 15482743.
Graham JM, Bashir AS, Stark RE, Silbert A, Walzer S (June 1988). "Oral and written language abilities of XXY boys: implications for anticipatory guidance". Pediatrics. 81 (6): 795–806. doi:10.1542/peds.81.6.795. PMID 3368277. S2CID 26098458.
Boone KB, Swerdloff RS, Miller BL, Geschwind DH, Razani J, Lee A, et al. (May 2001). "Neuropsychological profiles of adults with Klinefelter syndrome". Journal of the International Neuropsychological Society. 7 (4): 446–456. doi:10.1017/S1355617701744013. PMID 11396547. S2CID 145642384.
Skakkebæk A, Moore PJ, Pedersen AD, Bojesen A, Kristensen MK, Fedder J, et al. (November 9, 2018). "Anxiety and depression in Klinefelter syndrome: The impact of personality and social engagement". PLOS ONE. 13 (11): e0206932. Bibcode:2018PLoSO..1306932S. doi:10.1371/journal.pone.0206932. PMC 6226182. PMID 30412595.
Skakkebæk A, Moore PJ, Pedersen AD, Bojesen A, Kristensen MK, Fedder J, et al. (March 2017). "The role of genes, intelligence, personality, and social engagement in cognitive performance in Klinefelter syndrome". Brain and Behavior. 7 (3): e00645. doi:10.1002/brb3.645. PMC 5346527. PMID 28293480.
de Vries AL, Roehle R, Marshall L, Frisén L, van de Grift TC, Kreukels BP, et al. (September 2019). "Mental Health of a Large Group of Adults With Disorders of Sex Development in Six European Countries". Psychosomatic Medicine. 81 (7): 629–640. doi:10.1097/PSY.0000000000000718. PMC 6727927. PMID 31232913.
Bender BG, Harmon RJ, Linden MG, Robinson A (August 1995). "Psychosocial adaptation of 39 adolescents with sex chromosome abnormalities". Pediatrics. 96 (2 Pt 1): 302–308. doi:10.1542/peds.96.2.302. PMID 7630689. S2CID 36072015.
Hultborn R, Hanson C, Köpf I, Verbiené I, Warnhammar E, Weimarck A (1997). "Prevalence of Klinefelter's syndrome in male breast cancer patients". Anticancer Research. 17 (6D): 4293–4297. PMID 9494523.
Salzano A, Arcopinto M, Marra AM, Bobbio E, Esposito D, Accardo G, et al. (July 2016). "Klinefelter syndrome, cardiovascular system, and thromboembolic disease: review of literature and clinical perspectives". European Journal of Endocrinology. 175 (1): R27–R40. doi:10.1530/EJE-15-1025. PMID 26850445.
Nieschlag E (May 2013). "Klinefelter syndrome: the commonest form of hypogonadism, but often overlooked or untreated". Deutsches Ärzteblatt International. 110 (20): 347–353. doi:10.3238/arztebl.2013.0347. PMC 3674537. PMID 23825486.
Gravholt CH, Chang S, Wallentin M, Fedder J, Moore P, Skakkebæk A (August 2018). "Klinefelter Syndrome: Integrating Genetics, Neuropsychology, and Endocrinology". Endocrine Reviews. 39 (4): 389–423. doi:10.1210/er.2017-00212. PMID 29438472.
Bojesen A, Juul S, Gravholt CH (February 2003). "Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study". The Journal of Clinical Endocrinology and Metabolism. 88 (2): 622–626. doi:10.1210/jc.2002-021491. PMID 12574191.
Tüttelmann F, Gromoll J (June 2010). "Novel genetic aspects of Klinefelter's syndrome". Molecular Human Reproduction. 16 (6): 386–395. doi:10.1093/molehr/gaq019. PMID 20228051.
Chow JC, Yen Z, Ziesche SM, Brown CJ (2005-09-01). "Silencing of the mammalian X chromosome". Annual Review of Genomics and Human Genetics. 6 (1): 69–92. doi:10.1146/annurev.genom.6.080604.162350. PMID 16124854.
Blaschke RJ, Rappold G (June 2006). "The pseudoautosomal regions, SHOX and disease". Current Opinion in Genetics & Development. Genetics of disease. 16 (3): 233–239. doi:10.1016/j.gde.2006.04.004. PMID 16650979.
Linden MG, Bender BG, Robinson A (October 1995). "Sex chromosome tetrasomy and pentasomy". Pediatrics. 96 (4 Pt 1): 672–682. doi:10.1542/peds.96.4.672. PMID 7567329.
Frühmesser, A.; Kotzot, D. (29 April 2011). "Chromosomal Variants in Klinefelter Syndrome". Sexual Development. 5 (3): 109–123. doi:10.1159/000327324. PMID 21540567. Retrieved 24 April 2024.
Samplaski MK, Lo KC, Grober ED, Millar A, Dimitromanolakis A, Jarvi KA (April 2014). "Phenotypic differences in mosaic Klinefelter patients as compared with non-mosaic Klinefelter patients". Fertility and Sterility. 101 (4): 950–955. doi:10.1016/j.fertnstert.2013.12.051. PMID 24502895. Archived from the original on 11 October 2020. Retrieved 13 June 2020.
Velissariou V, Christopoulou S, Karadimas C, Pihos I, Kanaka-Gantenbein C, Kapranos N, et al. (2006). "Rare XXY/XX mosaicism in a phenotypic male with Klinefelter syndrome: case report". European Journal of Medical Genetics. 49 (4): 331–337. doi:10.1016/j.ejmg.2005.09.001. PMID 16829354.
Kinjo K, Yoshida T, Kobori Y, Okada H, Suzuki E, Ogata T, Miyado M, Fukami M (January 2020). "Random X chromosome inactivation in patients with Klinefelter syndrome". Molecular and Cellular Pediatrics. 7 (1): 1. doi:10.1186/s40348-020-0093-x. PMC 6979883. PMID 31974854.
Samplaski MK, Lo KC, Grober ED, Millar A, Dimitromanolakis A, Jarvi KA (2014). "Phenotypic differences in mosaic Klinefelter patients as compared with non-mosaic Klinefelter patients". Fertility and Sterility. 101 (4): 950–955. doi:10.1016/j.fertnstert.2013.12.051. PMID 24502895.
Kamischke A, Baumgardt A, Horst J, Nieschlag E (Jan–Feb 2003). "Clinical and diagnostic features of patients with suspected Klinefelter syndrome". Journal of Andrology. 24 (1): 41–48. doi:10.1002/j.1939-4640.2003.tb02638.x. PMID 12514081. S2CID 25133531.
Abramsky L, Chapple J (April 1997). "47,XXY (Klinefelter syndrome) and 47,XYY: estimated rates of and indication for postnatal diagnosis with implications for prenatal counselling". Prenatal Diagnosis. 17 (4): 363–368. doi:10.1002/(SICI)1097-0223(199704)17:4<363::AID-PD79>3.0.CO;2-O. PMID 9160389. S2CID 25935518.
Bojesen A, Juul S, Birkebaek N, Gravholt CH (August 2004). "Increased mortality in Klinefelter syndrome". The Journal of Clinical Endocrinology and Metabolism. 89 (8): 3830–3834. doi:10.1210/jc.2004-0777. PMID 15292313.
Swerdlow AJ, Higgins CD, Schoemaker MJ, Wright AF, Jacobs PA (December 2005). "Mortality in patients with Klinefelter syndrome in Britain: a cohort study". The Journal of Clinical Endocrinology and Metabolism. 90 (12): 6516–6522. doi:10.1210/jc.2005-1077. PMID 16204366.
Groth KA, Skakkebæk A, Høst C, Gravholt CH, Bojesen A (January 2013). "Clinical review: Klinefelter syndrome--a clinical update". The Journal of Clinical Endocrinology and Metabolism. 98 (1): 20–30. doi:10.1210/jc.2012-2382. PMID 23118429.
Gabriele R, Borghese M, Conte M, Egidi F (2002). "[Clinical-therapeutic features of gynecomastia]". Il Giornale di Chirurgia (in Italian). 23 (6–7): 250–252. PMID 12422780.
Corona G, Pizzocaro A, Lanfranco F, Garolla A, Pelliccione F, Vignozzi L, et al. (May 2017). "Sperm recovery and ICSI outcomes in Klinefelter syndrome: a systematic review and meta-analysis". Human Reproduction Update. 23 (3): 265–275. doi:10.1093/humupd/dmx008. hdl:2318/1633550. PMID 28379559.
Fullerton G, Hamilton M, Maheshwari A (March 2010). "Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009?". Human Reproduction. 25 (3): 588–597. doi:10.1093/humrep/dep431. PMID 20085911.
Jacobs PA, Strong JA (January 1959). "A case of human intersexuality having a possible XXY sex-determining mechanism". Nature. 183 (4657): 302–303. Bibcode:1959Natur.183..302J. doi:10.1038/183302a0. PMID 13632697. S2CID 38349997.
Jacobs PA (September 1982). "The William Allan Memorial Award address: human population cytogenetics: the first twenty-five years". American Journal of Human Genetics. 34 (5): 689–698. PMC 1685430. PMID 6751075.
Roca-Rada X, Tereso S, Rohrlach AB, Brito A, Williams MP, Umbelino C, et al. (August 2022). "A 1000-year-old case of Klinefelter's syndrome diagnosed by integrating morphology, osteology, and genetics". Lancet. 400 (10353): 691–692. doi:10.1016/S0140-6736(22)01476-3. hdl:10316/101524. PMID 36030812. S2CID 251817711.
Jacobs PA (1979). "Recurrence risks for chromosome abnormalities". Birth Defects Original Article Series. 15 (5C): 71–80. PMID 526617.
Maclean N, Harnden DG, Court Brown WM (August 1961). "Abnormalities of sex chromosome constitution in newborn babies". Lancet. 2 (7199): 406–408. doi:10.1016/S0140-6736(61)92486-2. PMID 13764957.
Visootsak J, Aylstock M, Graham JM (December 2001). "Klinefelter syndrome and its variants: an update and review for the primary pediatrician". Clinical Pediatrics. 40 (12): 639–651. doi:10.1177/000992280104001201. PMID 11771918. S2CID 43040200.
Matlach J, Grehn F, Klink T (Jan 2012). "Klinefelter syndrome associated with goniodysgenesis". Journal of Glaucoma. 22 (5): e7–e8. doi:10.1097/IJG.0b013e31824477ef. PMID 22274665. S2CID 30565002.
Liang, Bonnie; Cheung, Ada S.; Nolan, Brendan J. (2022-04-15). "Clinical features and prevalence of Klinefelter syndrome in transgender individuals: A systematic review". Clinical Endocrinology. 97 (1). Wiley: 3–12. doi:10.1111/cen.14734. ISSN 0300-0664. PMC 9540025. PMID 35394664.

ncbi.nlm.nih.gov

Simonetti L, Ferreira LG, Vidi AC, de Souza JS, Kunii IS, Melaragno MI, et al. (2021). "Intelligence Quotient Variability in Klinefelter Syndrome Is Associated With GTPBP6 Expression Under Regulation of X-Chromosome Inactivation Pattern". Frontiers in Genetics. 12: 724625. doi:10.3389/fgene.2021.724625. PMC 8488338. PMID 34616429.
Visootsak J, Graham JM (October 2006). "Klinefelter syndrome and other sex chromosomal aneuploidies". Orphanet Journal of Rare Diseases. 1: 42. doi:10.1186/1750-1172-1-42. PMC 1634840. PMID 17062147.
Visootsak, Jeannie; Graham, John M (2006-10-24). "Klinefelter syndrome and other sex chromosomal aneuploidies". Orphanet Journal of Rare Diseases. 1 (1): 42. doi:10.1186/1750-1172-1-42. ISSN 1750-1172. PMC 1634840. PMID 17062147.
Raheem, Amr Abdel (February 12, 2021). "The Impact and Management of Gynaecomastia in Klinefelter Syndrome". Frontiers in Reproductive Health. 3. doi:10.3389/frph.2021.629673. PMC 9580767. PMID 36303983.
Skakkebæk A, Moore PJ, Pedersen AD, Bojesen A, Kristensen MK, Fedder J, et al. (November 9, 2018). "Anxiety and depression in Klinefelter syndrome: The impact of personality and social engagement". PLOS ONE. 13 (11): e0206932. Bibcode:2018PLoSO..1306932S. doi:10.1371/journal.pone.0206932. PMC 6226182. PMID 30412595.
Skakkebæk A, Moore PJ, Pedersen AD, Bojesen A, Kristensen MK, Fedder J, et al. (March 2017). "The role of genes, intelligence, personality, and social engagement in cognitive performance in Klinefelter syndrome". Brain and Behavior. 7 (3): e00645. doi:10.1002/brb3.645. PMC 5346527. PMID 28293480.
de Vries AL, Roehle R, Marshall L, Frisén L, van de Grift TC, Kreukels BP, et al. (September 2019). "Mental Health of a Large Group of Adults With Disorders of Sex Development in Six European Countries". Psychosomatic Medicine. 81 (7): 629–640. doi:10.1097/PSY.0000000000000718. PMC 6727927. PMID 31232913.
Nieschlag E (May 2013). "Klinefelter syndrome: the commonest form of hypogonadism, but often overlooked or untreated". Deutsches Ärzteblatt International. 110 (20): 347–353. doi:10.3238/arztebl.2013.0347. PMC 3674537. PMID 23825486.
Kinjo K, Yoshida T, Kobori Y, Okada H, Suzuki E, Ogata T, Miyado M, Fukami M (January 2020). "Random X chromosome inactivation in patients with Klinefelter syndrome". Molecular and Cellular Pediatrics. 7 (1): 1. doi:10.1186/s40348-020-0093-x. PMC 6979883. PMID 31974854.
Jacobs PA (September 1982). "The William Allan Memorial Award address: human population cytogenetics: the first twenty-five years". American Journal of Human Genetics. 34 (5): 689–698. PMC 1685430. PMID 6751075.
Cai, Valerie; Yap, Tet (2022). "Gender Identity and Questioning in Klinefelter's Syndrome". BJPsych Open. 8 (S1). Royal College of Psychiatrists: S44–S45. doi:10.1192/bjo.2022.176. ISSN 2056-4724. PMC 9378311.
Liang, Bonnie; Cheung, Ada S.; Nolan, Brendan J. (2022-04-15). "Clinical features and prevalence of Klinefelter syndrome in transgender individuals: A systematic review". Clinical Endocrinology. 97 (1). Wiley: 3–12. doi:10.1111/cen.14734. ISSN 0300-0664. PMC 9540025. PMID 35394664.

nichd.nih.gov

"What are common symptoms of Klinefelter syndrome (KS)?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 25 October 2013. Archived from the original on 2 April 2015. Retrieved 15 March 2015.
"How many people are affected by or at risk for Klinefelter syndrome (KS)?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 30 November 2012. Archived from the original on 17 March 2015. Retrieved 15 March 2015.
"How do health care providers diagnose Klinefelter syndrome (KS)?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 2012-11-30. Archived from the original on 17 March 2015. Retrieved 15 March 2015.
"What are the treatments for symptoms in Klinefelter syndrome (KS)". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 2013-10-25. Archived from the original on 15 March 2015. Retrieved 15 March 2015.
"Is there a cure for Klinefelter syndrome (KS)?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 30 November 2012. Archived from the original on 17 March 2015. Retrieved 16 March 2015.
"Klinefelter Syndrome (KS): Overview". nichd.nih.gov. Eunice Kennedy Shriver National Institute of Child Health and Human Development. 2013-11-15. Archived from the original on 18 March 2015. Retrieved 15 March 2015.
"Klinefelter Syndrome". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 24 May 2007. Archived from the original on 27 November 2012. Retrieved November 28, 2023.
"What are the treatments for symptoms in Klinefelter syndrome (KS)?". nichd.nih.gov/. December 2016. Archived from the original on 2020-07-09. Retrieved 2020-07-14.

ghr.nlm.nih.gov

"Klinefelter syndrome". Genetics Home Reference. National Library of Medicine. 30 October 2012. Archived from the original on 15 November 2012. Retrieved 2 November 2012.
"Klinefelter Syndrome – Inheritance Pattern". Medline Plus. NIH. July 10, 2023. Archived from the original on 30 January 2017. Retrieved January 2, 2024.

rarediseases.info.nih.gov

"Klinefelter syndrome". rarediseases.info.nih.gov. Archived from the original on 15 April 2019. Retrieved 15 April 2019.

semanticscholar.org

api.semanticscholar.org

Kanakis, George A.; Nieschlag, Eberhard (September 2018). "Klinefelter syndrome: more than hypogonadism". Metabolism. 86: 135–144. doi:10.1016/j.metabol.2017.09.017. PMID 29382506. S2CID 3702209.
Graham JM, Bashir AS, Stark RE, Silbert A, Walzer S (June 1988). "Oral and written language abilities of XXY boys: implications for anticipatory guidance". Pediatrics. 81 (6): 795–806. doi:10.1542/peds.81.6.795. PMID 3368277. S2CID 26098458.
Boone KB, Swerdloff RS, Miller BL, Geschwind DH, Razani J, Lee A, et al. (May 2001). "Neuropsychological profiles of adults with Klinefelter syndrome". Journal of the International Neuropsychological Society. 7 (4): 446–456. doi:10.1017/S1355617701744013. PMID 11396547. S2CID 145642384.
Bender BG, Harmon RJ, Linden MG, Robinson A (August 1995). "Psychosocial adaptation of 39 adolescents with sex chromosome abnormalities". Pediatrics. 96 (2 Pt 1): 302–308. doi:10.1542/peds.96.2.302. PMID 7630689. S2CID 36072015.
Kamischke A, Baumgardt A, Horst J, Nieschlag E (Jan–Feb 2003). "Clinical and diagnostic features of patients with suspected Klinefelter syndrome". Journal of Andrology. 24 (1): 41–48. doi:10.1002/j.1939-4640.2003.tb02638.x. PMID 12514081. S2CID 25133531.
Abramsky L, Chapple J (April 1997). "47,XXY (Klinefelter syndrome) and 47,XYY: estimated rates of and indication for postnatal diagnosis with implications for prenatal counselling". Prenatal Diagnosis. 17 (4): 363–368. doi:10.1002/(SICI)1097-0223(199704)17:4<363::AID-PD79>3.0.CO;2-O. PMID 9160389. S2CID 25935518.
Jacobs PA, Strong JA (January 1959). "A case of human intersexuality having a possible XXY sex-determining mechanism". Nature. 183 (4657): 302–303. Bibcode:1959Natur.183..302J. doi:10.1038/183302a0. PMID 13632697. S2CID 38349997.
Roca-Rada X, Tereso S, Rohrlach AB, Brito A, Williams MP, Umbelino C, et al. (August 2022). "A 1000-year-old case of Klinefelter's syndrome diagnosed by integrating morphology, osteology, and genetics". Lancet. 400 (10353): 691–692. doi:10.1016/S0140-6736(22)01476-3. hdl:10316/101524. PMID 36030812. S2CID 251817711.
Visootsak J, Aylstock M, Graham JM (December 2001). "Klinefelter syndrome and its variants: an update and review for the primary pediatrician". Clinical Pediatrics. 40 (12): 639–651. doi:10.1177/000992280104001201. PMID 11771918. S2CID 43040200.
Matlach J, Grehn F, Klink T (Jan 2012). "Klinefelter syndrome associated with goniodysgenesis". Journal of Glaucoma. 22 (5): e7–e8. doi:10.1097/IJG.0b013e31824477ef. PMID 22274665. S2CID 30565002.

uspharmacist.com

Zierler-Browm SL (August 25, 2006). "Klinefelter's Syndrome: XXY Males". U.S. Pharmacist. 8. West Palm Beach, Florida: 43–51.

web.archive.org

"What are common symptoms of Klinefelter syndrome (KS)?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 25 October 2013. Archived from the original on 2 April 2015. Retrieved 15 March 2015.
"Klinefelter syndrome". rarediseases.info.nih.gov. Archived from the original on 15 April 2019. Retrieved 15 April 2019.
"How many people are affected by or at risk for Klinefelter syndrome (KS)?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 30 November 2012. Archived from the original on 17 March 2015. Retrieved 15 March 2015.
"How do health care providers diagnose Klinefelter syndrome (KS)?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 2012-11-30. Archived from the original on 17 March 2015. Retrieved 15 March 2015.
"What are the treatments for symptoms in Klinefelter syndrome (KS)". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 2013-10-25. Archived from the original on 15 March 2015. Retrieved 15 March 2015.
"Is there a cure for Klinefelter syndrome (KS)?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 30 November 2012. Archived from the original on 17 March 2015. Retrieved 16 March 2015.
"Klinefelter syndrome". Genetics Home Reference. National Library of Medicine. 30 October 2012. Archived from the original on 15 November 2012. Retrieved 2 November 2012.
"Klinefelter syndrome". National Health Service. 20 February 2023. Archived from the original on 17 January 2024. Retrieved 29 January 2024.
"Klinefelter Syndrome". Mayo Clinic. Archived from the original on 8 September 2020. Retrieved 27 August 2020.
"Klinefelter Syndrome (KS): Overview". nichd.nih.gov. Eunice Kennedy Shriver National Institute of Child Health and Human Development. 2013-11-15. Archived from the original on 18 March 2015. Retrieved 15 March 2015.
"Klinefelter Syndrome". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 24 May 2007. Archived from the original on 27 November 2012. Retrieved November 28, 2023.
GenePool (October 17, 2005). "Klinefelter syndrome". Clinical Genetics Specialist Library. Archived from the original on September 27, 2007. Retrieved November 29, 2023.
Conn PM (2013). Animal models for the study of human disease (First ed.). San Diego: Elsevier Science & Technology Books. p. 780. doi:10.1016/C2011-0-05225-0. ISBN 9780124159129. Archived from the original on September 10, 2017. Retrieved February 9, 2017.
"Klinefelter Syndrome – Inheritance Pattern". Medline Plus. NIH. July 10, 2023. Archived from the original on 30 January 2017. Retrieved January 2, 2024.
Samplaski MK, Lo KC, Grober ED, Millar A, Dimitromanolakis A, Jarvi KA (April 2014). "Phenotypic differences in mosaic Klinefelter patients as compared with non-mosaic Klinefelter patients". Fertility and Sterility. 101 (4): 950–955. doi:10.1016/j.fertnstert.2013.12.051. PMID 24502895. Archived from the original on 11 October 2020. Retrieved 13 June 2020.
Leask K (October 2005). "Klinefelter syndrome". National Library for Health, Specialist Libraries, Clinical Genetics. National Library for Health. Archived from the original on 2007-09-27. Retrieved 2007-04-07.
"What are the treatments for symptoms in Klinefelter syndrome (KS)?". nichd.nih.gov/. December 2016. Archived from the original on 2020-07-09. Retrieved 2020-07-14.
Harold Chen. "Klinefelter Syndrome – Treatment". medscape.com. Archived from the original on 2 July 2012. Retrieved 4 September 2012.
"The Klinefelter-Reifenstein-Albright syndrome". Biomedsearch.com. Archived from the original on 2017-08-27. Retrieved 26 August 2017.
Odom SL (2009). Handbook of developmental disabilities (Pbk. ed.). New York: Guilford. p. 113. ISBN 9781606232484. Archived from the original on 2017-09-10. Retrieved 2017-09-02.

worldcat.org

search.worldcat.org

Visootsak, Jeannie; Graham, John M (2006-10-24). "Klinefelter syndrome and other sex chromosomal aneuploidies". Orphanet Journal of Rare Diseases. 1 (1): 42. doi:10.1186/1750-1172-1-42. ISSN 1750-1172. PMC 1634840. PMID 17062147.
Moilanen U, Kirkinen T, Saari NJ, Rohrlach AB, Krause J, Onkamo P, Salmela E (2021-07-15). "A Woman with a Sword? – Weapon Grave at Suontaka Vesitorninmäki, Finland". European Journal of Archaeology. 25. Cambridge University Press: 42–60. doi:10.1017/eaa.2021.30. hdl:10138/340641. ISSN 1461-9571.
Robinson, Arthur; Bender, Bruce G.; Linden, Mary G. (1992). "Prognosis of prenatally diagnosed children with sex chromosome aneuploidy". American Journal of Medical Genetics. 44 (3): 365–368. doi:10.1002/ajmg.1320440319. ISSN 0148-7299.
Cai, Valerie; Yap, Tet (2022). "Gender Identity and Questioning in Klinefelter's Syndrome". BJPsych Open. 8 (S1). Royal College of Psychiatrists: S44–S45. doi:10.1192/bjo.2022.176. ISSN 2056-4724. PMC 9378311.
Liang, Bonnie; Cheung, Ada S.; Nolan, Brendan J. (2022-04-15). "Clinical features and prevalence of Klinefelter syndrome in transgender individuals: A systematic review". Clinical Endocrinology. 97 (1). Wiley: 3–12. doi:10.1111/cen.14734. ISSN 0300-0664. PMC 9540025. PMID 35394664.