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Items: 1 to 20 of 101

1.

Reply to 'Mosaic loss of chromosome Y in leukocytes matters'.

Zhou W, Machiela MJ, Freedman ND, Rothman N, Malats N, Dagnall C, Caporaso N, Teras LT, Gaudet MM, Gapstur SM, Stevens VL, Jacobs KB, Sampson J, Albanes D, Weinstein S, Virtamo J, Berndt S, Hoover RN, Black A, Silverman D, Figueroa J, Garcia-Closas M, Real FX, Earl J, Marenne G, Rodriguez-Santiago B, Karagas M, Johnson A, Schwenn M, Wu X, Gu J, Ye Y, Hutchinson A, Tucker M, Perez-Jurado LA, Dean M, Yeager M, Chanock SJ.

Nat Genet. 2019 Jan;51(1):7-9. doi: 10.1038/s41588-018-0310-x. No abstract available.

PMID:
30514911
2.

Mosaic loss of chromosome Y in leukocytes matters.

Forsberg LA, Halvardson J, Rychlicka-Buniowska E, Danielsson M, Moghadam BT, Mattisson J, Rasi C, Davies H, Lind L, Giedraitis V, Lannfelt L, Kilander L, Ingelsson M, Dumanski JP.

Nat Genet. 2019 Jan;51(1):4-7. doi: 10.1038/s41588-018-0267-9. No abstract available.

PMID:
30374072
3.

Somatically Acquired Isodicentric Y and Mosaic Loss of Chromosome Y in a Boy with Hypospadias.

Miyado M, Muroya K, Katsumi M, Saito K, Kon M, Fukami M.

Cytogenet Genome Res. 2018;154(3):122-125. doi: 10.1159/000488162. Epub 2018 Apr 7.

PMID:
29627832
4.

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.

5.

[Y chromosome structural abnormalities and Turner's syndrome].

Ravel C, Siffroi JP.

Gynecol Obstet Fertil. 2009 Jun;37(6):511-8. doi: 10.1016/j.gyobfe.2009.04.018. Epub 2009 May 22. French.

PMID:
19464936
6.

Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability.

Patsalis PC, Skordis N, Sismani C, Kousoulidou L, Koumbaris G, Eftychi C, Stavrides G, Ioulianos A, Kitsiou-Tzeli S, Galla-Voumvouraki A, Kosmaidou Z, Hadjiathanasiou CG, McElreavey K.

Am J Med Genet A. 2005 Jun 1;135(2):145-9.

PMID:
15880425
7.

[Non-fluorescent Y chromosome in a 45,X/46,XY mosaic (author's transl)].

Kaluzewski B, Jakubowski L, Moruzgala T, Bjanid O, Romer TE.

J Genet Hum. 1978 Sep;26(3):255-35. French.

PMID:
739262
8.

Mosaic chromosome Y loss and testicular germ cell tumor risk.

Machiela MJ, Dagnall CL, Pathak A, Loud JT, Chanock SJ, Greene MH, McGlynn KA, Stewart DR.

J Hum Genet. 2017 Jun;62(6):637-640. doi: 10.1038/jhg.2017.20. Epub 2017 Mar 9.

10.

Dandy-Walker malformation in a male fetus with mosaic 45,X/46,X,del(Y)(q11).

Witters I, Vandecruys H, Devlieger R, Fryns JP.

Genet Couns. 2008;19(4):439-41. No abstract available.

PMID:
19239090
11.

Y chromosome mosaicism is associated with age-related macular degeneration.

Grassmann F, Kiel C, den Hollander AI, Weeks DE, Lotery A, Cipriani V, Weber BHF; International Age-related Macular Degeneration Genomics Consortium (IAMDGC).

Eur J Hum Genet. 2019 Jan;27(1):36-41. doi: 10.1038/s41431-018-0238-8. Epub 2018 Aug 29.

12.

XO/XY mosaicism and non-fluorescing Y chromosome in a male.

Richards BW, Stewart A.

Hum Genet. 1978 Dec 29;45(3):331-8.

PMID:
738732
13.

Paternally derived der(7)t(Y;7)(p11.1 approximately 11.2;p22.3)dn in a mosaic case with Turner syndrome.

Polityko AD, Khurs OM, Kulpanovich AI, Mosse KA, Solntsava AV, Rumyantseva NV, Naumchik IV, Liehr T, Weise A, Mkrtchyan H.

Eur J Med Genet. 2009 Jul-Aug;52(4):207-10. doi: 10.1016/j.ejmg.2009.03.016. Epub 2009 Apr 16.

PMID:
19375526
14.

Familial mosaicism of del(Y) and inv del(Y).

Röttger S, Pasantes J, Baldermann C, Reichl E, Yen P, Hansmann I, Schempp W.

Cytogenet Cell Genet. 2000;91(1-4):208-11.

PMID:
11173858
15.

Back to the drawing board-loss of chromosome Y (LOY) in leukocytes is associated with age-related macular degeneration.

Forsberg LA.

Eur J Hum Genet. 2019 Jan;27(1):17-19. doi: 10.1038/s41431-018-0261-9. Epub 2018 Oct 23. No abstract available.

PMID:
30353152
16.

Sex chromosome mosaicism in gonads of a fetus with cystic hygroma and deletion of the short arm of Y chromosome including loss of SRY.

Aviv H, Heller D, Fajardo A, Hoot A, Mavaro L.

Am J Med Genet. 2001 Aug 1;102(2):157-60.

PMID:
11477609
17.

Mosaic down syndrome with a marker: molecular cytogenetic characterization of the marker chromosome.

Dutta UR, Pidugu VK, Goud V, Dalal AB.

Gene. 2012 Mar 10;495(2):199-204. doi: 10.1016/j.gene.2011.12.034. Epub 2011 Dec 28.

PMID:
22245181
18.

Detailed analysis of isodicentric Y in a case with azoospermia and 45,x/46,x,idic(Y) mosaicism.

Lee J, Park JK, Kim DS, Lee HS, Choi SI, Cho YG.

Ann Clin Lab Sci. 2015 Spring;45(2):206-8.

PMID:
25887877
19.

Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants.

dos Santos AP, Andrade JG, Piveta CS, de Paulo J, Guerra G Jr, de Mello MP, Maciel-Guerra AT.

BMC Med Genet. 2013 Nov 5;14:115. doi: 10.1186/1471-2350-14-115.

20.

[Molecular analysis of the Y chromosome in XX sex-reversed patients].

Chernykh VB, Chukhrova AL, Vasserman NN, Il'ina EV, Karmanov ME, Fedotov VP, Poliakov AV.

Genetika. 2008 Feb;44(2):236-41. Russian.

PMID:
18619043

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