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Items: 1 to 20 of 139

1.

Genomic analysis using high-resolution single-nucleotide polymorphism arrays reveals novel microdeletions associated with premature ovarian failure.

McGuire MM, Bowden W, Engel NJ, Ahn HW, Kovanci E, Rajkovic A.

Fertil Steril. 2011 Apr;95(5):1595-600. doi: 10.1016/j.fertnstert.2010.12.052. Epub 2011 Jan 22.

2.

[Genome-wide copy number scan in Chinese patients with premature ovarian failure].

Zhen XM, Sun YM, Qiao J, Li R, Wang LN, Liu P.

Beijing Da Xue Xue Bao. 2013 Dec 18;45(6):841-7. Chinese.

3.

Array comparative genomic hybridization profiling analysis reveals deoxyribonucleic acid copy number variations associated with premature ovarian failure.

Aboura A, Dupas C, Tachdjian G, Portnoï MF, Bourcigaux N, Dewailly D, Frydman R, Fauser B, Ronci-Chaix N, Donadille B, Bouchard P, Christin-Maitre S.

J Clin Endocrinol Metab. 2009 Nov;94(11):4540-6. doi: 10.1210/jc.2009-0186. Epub 2009 Oct 16.

PMID:
19837940
4.

Analysis of X chromosome genomic DNA sequence copy number variation associated with premature ovarian failure (POF).

Quilter CR, Karcanias AC, Bagga MR, Duncan S, Murray A, Conway GS, Sargent CA, Affara NA.

Hum Reprod. 2010 Aug;25(8):2139-50. doi: 10.1093/humrep/deq158. Epub 2010 Jun 22.

5.

Novel variants in the SOHLH2 gene are implicated in human premature ovarian failure.

Qin Y, Jiao X, Dalgleish R, Vujovic S, Li J, Simpson JL, Al-Azzawi F, Chen ZJ.

Fertil Steril. 2014 Apr;101(4):1104-1109.e6. doi: 10.1016/j.fertnstert.2014.01.001. Epub 2014 Feb 10.

PMID:
24524832
6.

Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure.

Harrison SM, Campbell IM, Keays M, Granberg CF, Villanueva C, Tannin G, Zinn AR, Castrillon DH, Shaw CA, Stankiewicz P, Baker LA.

Am J Med Genet A. 2013 Oct;161A(10):2487-94. doi: 10.1002/ajmg.a.36084. Epub 2013 Aug 5.

7.

Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies.

Goldmuntz E, Paluru P, Glessner J, Hakonarson H, Biegel JA, White PS, Gai X, Shaikh TH.

Congenit Heart Dis. 2011 Nov-Dec;6(6):592-602. doi: 10.1111/j.1747-0803.2011.00582.x. Epub 2011 Oct 20.

8.

Epistasis between IGF2R and ADAMTS19 polymorphisms associates with premature ovarian failure.

Pyun JA, Kim S, Cha DH, Kwack K.

Hum Reprod. 2013 Nov;28(11):3146-54. doi: 10.1093/humrep/det365. Epub 2013 Sep 7.

9.

Molecular genetic and cytogenetic characterization of a partial Xp duplication and Xq deletion in a patient with premature ovarian failure.

Kim MK, Seok HH, Kim YS, Chin MU, Sung SR, Lee WS, Shim SH, Yoon TK.

Gene. 2014 Jan 15;534(1):54-9. doi: 10.1016/j.gene.2013.10.026. Epub 2013 Oct 19.

PMID:
24148559
10.
11.

Association of 8q22.3 locus in Chinese Han with idiopathic premature ovarian failure (POF).

Qin Y, Zhao H, Xu J, Shi Y, Li Z, Qiao J, Liu J, Qin C, Ren C, Li J, Chen S, Cao Y; China POF Study Group, Simpson JL, Chen ZJ.

Hum Mol Genet. 2012 Jan 15;21(2):430-6. doi: 10.1093/hmg/ddr462. Epub 2011 Oct 11.

12.

LAMC1 gene is associated with premature ovarian failure.

Pyun JA, Cha DH, Kwack K.

Maturitas. 2012 Apr;71(4):402-6. doi: 10.1016/j.maturitas.2012.01.011. Epub 2012 Feb 10.

PMID:
22321639
13.

Copy number variants on the X chromosome in women with primary ovarian insufficiency.

Knauff EA, Blauw HM, Pearson PL, Kok K, Wijmenga C, Veldink JH, van den Berg LH, Bouchard P, Fauser BC, Franke L; Dutch Primary Ovarian Insufficiency Consortium.

Fertil Steril. 2011 Apr;95(5):1584-8.e1. doi: 10.1016/j.fertnstert.2011.01.018. Epub 2011 Feb 12.

PMID:
21316664
14.

Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations.

Fonseca DJ, Patiño LC, Suárez YC, de Jesús Rodríguez A, Mateus HE, Jiménez KM, Ortega-Recalde O, Díaz-Yamal I, Laissue P.

Fertil Steril. 2015 Jul;104(1):154-62.e2. doi: 10.1016/j.fertnstert.2015.04.016. Epub 2015 May 16.

PMID:
25989972
15.

Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing.

Laissue P.

Mol Cell Endocrinol. 2015 Aug 15;411:243-57. doi: 10.1016/j.mce.2015.05.005. Epub 2015 May 7. Review.

16.

A genome-wide linkage scan in a Dutch family identifies a premature ovarian failure susceptibility locus.

Oldenburg RA, van Dooren MF, de Graaf B, Simons E, Govaerts L, Swagemakers S, Verkerk JM, Oostra BA, Bertoli-Avella AM.

Hum Reprod. 2008 Dec;23(12):2835-41. doi: 10.1093/humrep/den278. Epub 2008 Aug 9.

17.

Germline study of AR gene of Indian women with ovarian failure.

Panda B, Rao L, Tosh D, Dixit H, Padmalatha V, Kanakavalli M, Raseswari T, Deenadayal M, Gupta N, Chakrabarty B, Nallari P, Singh L.

Gynecol Endocrinol. 2011 Aug;27(8):572-8. doi: 10.3109/09513590.2010.507282. Epub 2010 Jul 30.

PMID:
20672904
18.

Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.

Gijsbers AC, Bosch CA, Dauwerse JG, Giromus O, Hansson K, Hilhorst-Hofstee Y, Kriek M, van Haeringen A, Bijlsma EK, Bakker E, Breuning MH, Ruivenkamp CA.

Eur J Med Genet. 2010 Sep-Oct;53(5):227-33. doi: 10.1016/j.ejmg.2010.06.003. Epub 2010 Jun 11.

PMID:
20542150
19.

Genome-wide survey implicates the influence of copy number variants (CNVs) in the development of early-onset bipolar disorder.

Priebe L, Degenhardt FA, Herms S, Haenisch B, Mattheisen M, Nieratschker V, Weingarten M, Witt S, Breuer R, Paul T, Alblas M, Moebus S, Lathrop M, Leboyer M, Schreiber S, Grigoroiu-Serbanescu M, Maier W, Propping P, Rietschel M, Nöthen MM, Cichon S, Mühleisen TW.

Mol Psychiatry. 2012 Apr;17(4):421-32. doi: 10.1038/mp.2011.8. Epub 2011 Mar 1.

PMID:
21358712
20.

Haplotype and mutation analysis of the TGFBR3 gene in Chinese women with idiopathic premature ovarian failure.

Qin CR, Chen SL, Yao JL, Li T, Wu WQ.

Gynecol Endocrinol. 2012 Jan;28(1):63-7. doi: 10.3109/09513590.2011.583954. Epub 2011 Jul 14.

PMID:
21756058
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