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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.

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. 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.

PMID:
21375582
6.

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.

7.

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
9.

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 AJ, 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;168:25-9. doi: 10.1016/j.clim.2016.04.002. Epub 2016 Apr 22.

PMID:
27109640
10.

Chromosomal variants in klinefelter syndrome.

Frühmesser A, Kotzot D.

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

11.

Klinefelter syndrome and other sex chromosomal aneuploidies.

Visootsak J, Graham JM Jr.

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

12.
13.

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.

14.

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
15.

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
16.

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.

17.

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.

PMID:
16556678
19.

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
20.

A simple screening method for detection of Klinefelter syndrome and other X-chromosome aneuploidies based on copy number of the androgen receptor gene.

Ottesen AM, Garn ID, Aksglaede L, Juul A, Rajpert-De Meyts E.

Mol Hum Reprod. 2007 Oct;13(10):745-50.

PMID:
17720778

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