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Items: 1 to 20 of 113

1.

No evidence for mutations in NLRP7 and KHDC3L in women with androgenetic hydatidiform moles.

Mahadevan S, Wen S, Balasa A, Fruhman G, Mateus J, Wagner A, Al-Hussaini T, Van den Veyver IB.

Prenat Diagn. 2013 Dec;33(13):1242-7. doi: 10.1002/pd.4239.

2.

NLRP7 or KHDC3L genes and the etiology of molar pregnancies and recurrent miscarriage.

Andreasen L, Christiansen OB, Niemann I, Bolund L, Sunde L.

Mol Hum Reprod. 2013 Nov;19(11):773-81. doi: 10.1093/molehr/gat056.

PMID:
23963444
3.

Mutations in NLRP7 are associated with diploid biparental hydatidiform moles, but not androgenetic complete moles.

Dixon PH, Trongwongsa P, Abu-Hayyah S, Ng SH, Akbar SA, Khawaja NP, Seckl MJ, Savage PM, Fisher RA.

J Med Genet. 2012 Mar;49(3):206-11. doi: 10.1136/jmedgenet-2011-100602.

PMID:
22315435
4.

Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7.

Reddy R, Akoury E, Phuong Nguyen NM, Abdul-Rahman OA, Dery C, Gupta N, Daley WP, Ao A, Landolsi H, Ann Fisher R, Touitou I, Slim R.

Eur J Hum Genet. 2013 Sep;21(9):957-64. doi: 10.1038/ejhg.2012.274.

5.

No evidence for mutations in NLRP7, NLRP2 or KHDC3L in women with unexplained recurrent pregnancy loss or infertility.

Aghajanova L, Mahadevan S, Altmäe S, Stavreus-Evers A, Regan L, Sebire N, Dixon P, Fisher RA, Van den Veyver IB.

Hum Reprod. 2015 Jan;30(1):232-8. doi: 10.1093/humrep/deu296.

6.

Novel NLRP7 mutations in familial recurrent hydatidiform mole: are NLRP7 mutations a risk for recurrent reproductive wastage?

Ulker V, Gurkan H, Tozkir H, Karaman V, Ozgur H, Numanoglu C, Gedikbasi A, Akbayir O, Uyguner ZO.

Eur J Obstet Gynecol Reprod Biol. 2013 Sep;170(1):188-92. doi: 10.1016/j.ejogrb.2013.06.028.

PMID:
23880596
7.

A recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform moles.

Kou YC, Shao L, Peng HH, Rosetta R, del Gaudio D, Wagner AF, Al-Hussaini TK, Van den Veyver IB.

Mol Hum Reprod. 2008 Jan;14(1):33-40.

PMID:
18039680
8.

Maternal NLRP7 and C6orf221 variants are not a common risk factor for androgenetic moles, triploidy and recurrent miscarriage.

Manokhina I, Hanna CW, Stephenson MD, McFadden DE, Robinson WP.

Mol Hum Reprod. 2013 Aug;19(8):539-44. doi: 10.1093/molehr/gat019.

PMID:
23515668
9.

NLRP7 mutation analysis in sporadic hydatidiform moles in Tunisian patients: NLRP7 and sporadic mole.

Landolsi H, Rittore C, Philibert L, Hmissa S, Gribaa M, Touitou I, Yacoubi MT.

Arch Pathol Lab Med. 2012 Jun;136(6):646-51. doi: 10.5858/arpa.2011-0399-OA.

PMID:
22646272
10.

Histopathological features of biparental complete hydatidiform moles in women with NLRP7 mutations.

Sebire NJ, Savage PM, Seckl MJ, Fisher RA.

Placenta. 2013 Jan;34(1):50-6. doi: 10.1016/j.placenta.2012.11.005.

PMID:
23201303
11.

Recurrent hydatidiform mole: detection of two novel mutations in the NLRP7 gene in two Egyptian families.

Abdalla EM, Hayward BE, Shamseddin A, Nawar MM.

Eur J Obstet Gynecol Reprod Biol. 2012 Oct;164(2):211-5. doi: 10.1016/j.ejogrb.2012.06.017.

PMID:
22770628
12.

Mutations in NLRP7 and KHDC3L confer a complete hydatidiform mole phenotype on digynic triploid conceptions.

Fallahian M, Sebire NJ, Savage PM, Seckl MJ, Fisher RA.

Hum Mutat. 2013 Feb;34(2):301-8. doi: 10.1002/humu.22228.

PMID:
23125094
13.

Mosaic moles and non-familial biparental moles are not caused by mutations in NLRP7, NLRP2 or C6orf221.

Andreasen L, Bolund L, Niemann I, Hansen ES, Sunde L.

Mol Hum Reprod. 2012 Dec;18(12):593-8. doi: 10.1093/molehr/gas036.

PMID:
22909446
14.

Absence of KHDC3L mutations in Chinese patients with recurrent and sporadic hydatidiform moles.

Zhao W, Muhetaer A, Luo T, Zhou W, Qi C, Chen X, Zhang X, Zhang Z, Dery C, Slim R, Qian J.

Cancer Genet. 2013 Sep-Oct;206(9-10):327-9. doi: 10.1016/j.cancergen.2013.09.003.

PMID:
24215781
15.

Heterogeneity in recurrent complete hydatidiform mole: presentation of two new Turkish families with different genetic characteristics.

Buyukkurt S, Fisher RA, Vardar MA, Evruke C.

Placenta. 2010 Nov;31(11):1023-5. doi: 10.1016/j.placenta.2010.09.003.

PMID:
20870286
16.

Screening for NLRP7 mutations in familial and sporadic recurrent hydatidiform moles: report of 2 Tunisian families.

Landolsi H, Rittore C, Philibert L, Missaoui N, Hmissa S, Touitou I, Gribaa M, Yacoubi MT.

Int J Gynecol Pathol. 2011 Jul;30(4):348-53. doi: 10.1097/PGP.0b013e31820dc3b0.

PMID:
21623199
17.

NLRP7 and KHDC3L, the two maternal-effect proteins responsible for recurrent hydatidiform moles, co-localize to the oocyte cytoskeleton.

Akoury E, Zhang L, Ao A, Slim R.

Hum Reprod. 2015 Jan;30(1):159-69. doi: 10.1093/humrep/deu291.

PMID:
25358348
18.

[Family pedigree analysis in family member with history of hydatidiform mole and the NLRP7 gene expression].

Li Y, Cheng Q, Qian JH, Zhou W, Xie X, Slim R.

Zhonghua Fu Chan Ke Za Zhi. 2011 Aug;46(8):600-4. Chinese.

PMID:
22169519
19.

Recurrent pregnancy loss in a woman with NLRP7 mutation: not all molar pregnancies can be easily classified as either "partial" or "complete" hydatidiform moles.

Brown L, Mount S, Reddy R, Slim R, Wong C, Jobanputra V, Clifford P, Merrill L, Brown S.

Int J Gynecol Pathol. 2013 Jul;32(4):399-405. doi: 10.1097/PGP.0b013e31826cbf6a.

PMID:
23722513
20.

NLRP7 and the genetics of post-molar choriocarcinomas in Senegal.

Slim R, Coullin P, Diatta AL, Chebaro W, Courtin D, Abdelhak S, Garcia A.

Mol Hum Reprod. 2012 Jan;18(1):52-6. doi: 10.1093/molehr/gar060.

PMID:
21948117
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