Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 106

1.

Sex chromosome aneuploidies among men with systemic lupus erythematosus.

Dillon SP, Kurien BT, Li S, Bruner GR, Kaufman KM, Harley JB, Gaffney PM, Wallace DJ, Weisman MH, Scofield RH.

J Autoimmun. 2012 May;38(2-3):J129-34. doi: 10.1016/j.jaut.2011.10.004. Epub 2011 Dec 6.

2.

Klinefelter's syndrome (47,XXY) in male systemic lupus erythematosus patients: support for the notion of a gene-dose effect from the X chromosome.

Scofield RH, Bruner GR, Namjou B, Kimberly RP, Ramsey-Goldman R, Petri M, Reveille JD, Alarcón GS, Vilá LM, Reid J, Harris B, Li S, Kelly JA, Harley JB.

Arthritis Rheum. 2008 Aug;58(8):2511-7. doi: 10.1002/art.23701.

3.

Autoimmunity and Klinefelter's syndrome: when men have two X chromosomes.

Sawalha AH, Harley JB, Scofield RH.

J Autoimmun. 2009 Aug;33(1):31-4. doi: 10.1016/j.jaut.2009.03.006. Epub 2009 May 22. Review.

4.

Identification and characterization of an Xp22.33;Yp11.2 translocation causing a triplication of several genes of the pseudoautosomal region 1 in an XX male patient with severe systemic lupus erythematosus.

Chagnon P, Schneider R, Hébert J, Fortin PR, Provost S, Belisle C, Gingras M, Bolduc V, Perreault C, Silverman E, Busque L.

Arthritis Rheum. 2006 Apr;54(4):1270-8.

5.

Klinefelter's syndrome (47,XXY) among men with systemic lupus erythematosus.

Dillon S, Aggarwal R, Harding JW, Li LJ, Weissman MH, Li S, Cavett JW, Sevier ST, Ojwang JW, D'Souza A, Harley JB, Scofield RH.

Acta Paediatr. 2011 Jun;100(6):819-23. doi: 10.1111/j.1651-2227.2011.02185.x. Epub 2011 Mar 7.

PMID:
21375582
6.

Klinefelter's syndrome (47,XXY) is in excess among men with Sjögren's syndrome.

Harris VM, Sharma R, Cavett J, Kurien BT, Liu K, Koelsch KA, Rasmussen A, Radfar L, Lewis D, Stone DU, Kaufman CE, Li S, Segal B, Wallace DJ, Weisman MH, Venuturupalli S, Kelly JA, Alarcon-Riquelme ME, Pons-Estel B, Jonsson R, Lu X, Gottenberg JE, Anaya JM, Cunninghame-Graham DS, Huang AJW, Brennan MT, Hughes P, Alevizos I, Miceli-Richard C, Keystone EC, Bykerk VP, Hirschfield G, Xie G, Ng WF, Nordmark G, Bucher SM, Eriksson P, Omdal R, Rhodus NL, Rischmueller M, Rohrer M, Wahren-Herlenius M, Witte T, Mariette X, Lessard CJ, Harley JB, Sivils KL, Scofield RH.

Clin Immunol. 2016 Jul;168:25-29. doi: 10.1016/j.clim.2016.04.002. Epub 2016 Apr 22.

7.

46,X,del(X)(q13) Turner's syndrome women with systemic lupus erythematosus in a pedigree multiplex for SLE.

Cooney CM, Bruner GR, Aberle T, Namjou-Khales B, Myers LK, Feo L, Li S, D'Souza A, Ramirez A, Harley JB, Scofield RH.

Genes Immun. 2009 Jul;10(5):478-81. doi: 10.1038/gene.2009.37. Epub 2009 May 21.

8.

X Chromosome Dose and Sex Bias in Autoimmune Diseases: Increased Prevalence of 47,XXX in Systemic Lupus Erythematosus and Sjögren's Syndrome.

Liu K, Kurien BT, Zimmerman SL, Kaufman KM, Taft DH, Kottyan LC, Lazaro S, Weaver CA, Ice JA, Adler AJ, Chodosh J, Radfar L, Rasmussen A, Stone DU, Lewis DM, Li S, Koelsch KA, Igoe A, Talsania M, Kumar J, Maier-Moore JS, Harris VM, Gopalakrishnan R, Jonsson R, Lessard JA, Lu X, Gottenberg JE, Anaya JM, Cunninghame-Graham DS, Huang AJW, Brennan MT, Hughes P, Illei GG, Miceli-Richard C, Keystone EC, Bykerk VP, Hirschfield G, Xie G, Ng WF, Nordmark G, Eriksson P, Omdal R, Rhodus NL, Rischmueller M, Rohrer M, Segal BM, Vyse TJ, Wahren-Herlenius M, Witte T, Pons-Estel B, Alarcon-Riquelme ME, Guthridge JM, James JA, Lessard CJ, Kelly JA, Thompson SD, Gaffney PM, Montgomery CG, Edberg JC, Kimberly RP, Alarcón GS, Langefeld CL, Gilkeson GS, Kamen DL, Tsao BP, McCune WJ, Salmon JE, Merrill JT, Weisman MH, Wallace DJ, Utset TO, Bottinger EP, Amos CI, Siminovitch KA, Mariette X, Sivils KL, Harley JB, Scofield RH.

Arthritis Rheumatol. 2016 May;68(5):1290-1300. doi: 10.1002/art.39560.

9.

Quantitative fluorescent-PCR detection of sex chromosome aneuploidies and AZF deletions/duplications.

Plaseski T, Noveski P, Trivodalieva S, Efremov GD, Plaseska-Karanfilska D.

Genet Test. 2008 Dec;12(4):595-605. doi: 10.1089/gte.2008.0068.

PMID:
19072570
11.

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
12.

Klinefelter syndrome and other sex chromosomal aneuploidies.

Visootsak J, Graham JM Jr.

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

13.
14.

Unusual maternal uniparental isodisomic x chromosome mosaicism with asymmetric y chromosomal rearrangement.

Lee BY, Kim SY, Park JY, Choi EY, Kim DJ, Kim JW, Ryu HM, Cho YH, Park SY, Seo JT.

Cytogenet Genome Res. 2014;142(2):79-86. doi: 10.1159/000357315. Epub 2014 Jan 14.

PMID:
24434812
15.

Coincidence of familial systemic lupus erythematosus and the fragile X syndrome.

Belghiti D, Razavi-Encha F, Raoul O, Hirbec G, Guillot F, Reinert P, Sobel A.

Ann Genet. 1986;29(4):261-3.

PMID:
3495228
16.

Connective tissue diseases. Unravelling aetiology in male SLE--the X chromosome dose effect.

Zandman-Goddard G, Peeva E.

Nat Rev Rheumatol. 2012 Apr 17;8(6):310-2. doi: 10.1038/nrrheum.2012.44.

PMID:
22508431
17.

Severe XIST hypomethylation clearly distinguishes (SRY+) 46,XX-maleness from Klinefelter syndrome.

Poplinski A, Wieacker P, Kliesch S, Gromoll J.

Eur J Endocrinol. 2010 Jan;162(1):169-75. doi: 10.1530/EJE-09-0768. Epub 2009 Oct 7.

18.

SRY-negative 46,XX male with normal genitals, complete masculinization and infertility.

Rajender S, Rajani V, Gupta NJ, Chakravarty B, Singh L, Thangaraj K.

Mol Hum Reprod. 2006 May;12(5):341-6. Epub 2006 Mar 23.

PMID:
16556678
20.

Complex mosaicism in sex reversed SRY+ male twins.

DesGroseilliers M, Fortin F, Lemyre E, Lemieux N.

Cytogenet Genome Res. 2006;112(1-2):176-9.

PMID:
16276109

Supplemental Content

Support Center