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Items: 1 to 20 of 106

1.

Karyotype determination and reproductive guidance for short stature women with a hidden Y chromosome fragment.

Cheng DH, Gong F, Tan K, Lu CF, Lin G, Lu GX, Tan YQ.

Reprod Biomed Online. 2013 Jul;27(1):89-95. doi: 10.1016/j.rbmo.2013.03.015. Epub 2013 Apr 6.

PMID:
23664816
2.
3.

A healthy live birth after successful preimplantation genetic diagnosis for carriers of complex chromosome rearrangements.

Lim CK, Cho JW, Kim JY, Kang IS, Shim SH, Jun JH.

Fertil Steril. 2008 Nov;90(5):1680-4. Epub 2008 Feb 20.

PMID:
18076880
4.

Preimplantation genetic diagnosis of a reciprocal translocation t(3;11)(q27.3;q24.3) in siblings.

Coonen E, Martini E, Dumoulin JC, Hollanders-Crombach HT, de Die-Smulders C, Geraedts JP, Hopman AH, Evers JL.

Mol Hum Reprod. 2000 Mar;6(3):199-206.

PMID:
10694265
5.

Familial X;Y translocation with distinct phenotypic consequences: Characterization using FISH and array CGH.

Bukvic N, Carri VD, Di Cosola ML, Pustorino G, Cesarano C, Chetta M, Santacroce R, Sarno M, Sessa F, Longo V, Novelli A, Gentile M, Margaglione M.

Am J Med Genet A. 2010 Jul;152A(7):1730-4. doi: 10.1002/ajmg.a.33437.

PMID:
20578256
6.

Array-CGH characterization of a de novo t(X;Y)(p22;q11) in a female with short stature and mental retardation.

Palka-Bayard-de-Volo C, De Marco S, Chiavaroli V, Alfonsi M, Calabrese G, Chiarelli F, Mohn A.

Gene. 2012 Aug 1;504(1):107-10. doi: 10.1016/j.gene.2012.05.009. Epub 2012 May 11.

PMID:
22583828
7.

An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits.

Doherty MJ, Glass IA, Bennett CL, Cotter PD, Watson NF, Mitchell AL, Bird TD, Farrell DF.

Epilepsia. 2003 Dec;44(12):1529-35.

8.

Robertsonian translocations--reproductive risks and indications for preimplantation genetic diagnosis.

Scriven PN, Flinter FA, Braude PR, Ogilvie CM.

Hum Reprod. 2001 Nov;16(11):2267-73.

PMID:
11679502
9.

Array-CGH characterization of a prenatally detected de novo 46,X,der(Y)t(X;Y)(p22.3;q11.2) in a male fetus.

Palka C, Alfonsi M, Morizio E, Soranno A, La Rovere D, Matarrelli B, Rullo AL, Zori R, Chiarelli F, Calabrese G.

Eur J Med Genet. 2011 May-Jun;54(3):333-6. doi: 10.1016/j.ejmg.2011.02.003. Epub 2011 Feb 24.

PMID:
21354345
10.

Crypt Y chromosome fragment resulting from an X;Y translocation in a patient with premature ovarian failure.

Cheng DH, Tan YQ, Di YF, Li LY, Lu GX.

Fertil Steril. 2009 Aug;92(2):828.e3-6. doi: 10.1016/j.fertnstert.2008.07.014. Epub 2009 Jun 13.

PMID:
19524892
11.

Familial Turner syndrome with an X;Y translocation mosaicism: implications for genetic counseling.

Portnoï MF, Chantot-Bastaraud S, Christin-Maitre S, Carbonne B, Beaujard MP, Keren B, Lévy J, Dommergues M, Cabrol S, Hyon C, Siffroi JP.

Eur J Med Genet. 2012 Nov;55(11):635-40. doi: 10.1016/j.ejmg.2012.07.001. Epub 2012 Jul 15.

PMID:
22809487
12.

Preimplantation genetic screening (PGS) in infertile female age > or = 35 years by fluorescence in situ hybridization of chromosome 13, 18, 21, X and Y.

Chiamchanya C, Visutakul P, Gumnarai N, Su-angkawatin W.

J Med Assoc Thai. 2008 Nov;91(11):1644-50.

PMID:
19127783
13.

Translocation (Y;22) resulting in the loss of SHOX and isolated short stature.

Borie C, Léger J, Dupuy O, Hassan M, Ledu N, Lebbar A, Czernichow P, Eydoux P.

Am J Med Genet A. 2004 Mar 1;125A(2):186-90.

PMID:
14981722
14.

[Importance of aneuploidy screening in preimplantation genetic diagnosis for the couples of chromosome translocation carriers].

Li G, Sun YP, Jin HX, Xin ZM, Dai SJ.

Zhonghua Fu Chan Ke Za Zhi. 2011 Jan;46(1):32-5. Chinese.

PMID:
21429432
15.

Preimplantation genetic diagnosis for X;autosome translocations: lessons from a case of misdiagnosis.

Van Echten-Arends J, Coonen E, Reuters B, Suijkerbuijk RF, Dul EC, Land JA, van Ravenswaaij-Arts CM.

Hum Reprod. 2013 Nov;28(11):3141-5. doi: 10.1093/humrep/det362. Epub 2013 Sep 18.

PMID:
24048012
16.

Characterization of the first adult de novo case of 46,X,der(Y)t(X;Y)(p22.3;q11.2).

Bukvic N, Cesarano C, Ceccarini C, Bruno M, Lipsi MR, Gallicchio MG, Carboni MA, Valente L, Cotoia G, Antonetti R.

Gene. 2013 Jan 15;513(1):111-7. doi: 10.1016/j.gene.2012.09.133. Epub 2012 Nov 1.

PMID:
23124038
17.

A proposal for reproductive counselling in carriers of Robertsonian translocations: 10 years of experience with preimplantation genetic diagnosis.

Keymolen K, Staessen C, Verpoest W, Michiels A, Bonduelle M, Haentjens P, Vanderelst J, Liebaers I.

Hum Reprod. 2009 Sep;24(9):2365-71. doi: 10.1093/humrep/dep201. Epub 2009 Jun 3.

PMID:
19493873
18.

Preimplantation genetic diagnosis of chromosome balance in embryos from a patient with a balanced reciprocal translocation.

Pierce KE, Fitzgerald LM, Seibel MM, Zilberstein M.

Mol Hum Reprod. 1998 Feb;4(2):167-72.

PMID:
9542975
19.

Predictive value of preimplantation genetic diagnosis for aneuploidy screening in repeated IVF-ET cycles among women with recurrent implantation failure.

Pagidas K, Ying Y, Keefe D.

J Assist Reprod Genet. 2008 Feb-Mar;25(2-3):103-6. doi: 10.1007/s10815-008-9200-y. Epub 2008 Feb 12.

20.

Estimation of chromosomal imbalances in preimplantation embryos from preimplantation genetic diagnosis cycles of reciprocal translocations with or without acrocentric chromosomes.

Lim CK, Cho JW, Song IO, Kang IS, Yoon YD, Jun JH.

Fertil Steril. 2008 Dec;90(6):2144-51. doi: 10.1016/j.fertnstert.2007.10.035. Epub 2008 Apr 28.

PMID:
18440525

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