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Pregnancy after oocyte donation in a patient with NLRP7 gene mutations and recurrent molar hydatidiform pregnancies
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A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation
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A case of partial hydatidiform molar pregnancy with a placental diploid-triploid mosaicism associated with a euploid viable foetus complicated with severe pre-eclampsia
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Placental mesenchymal dysplasia with severe fetal growth restriction in one placenta of a dichorionic diamniotic twin pregnancy
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Biparental/androgenetic mosaicism in a male with features of overgrowth and placental mesenchymal dysplasia
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CLINICAL GENETICS (2018)
Discordance for placental mesenchymal dysplasia in a monochorionic diamniotic twin pregnancy: A case report
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CLINICAL CASE REPORTS (2018)
Novel Nonsense Mutation in the NLRP7 Gene Associated with Recurrent Hydatidiform Mole
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Risk of recurrent molar pregnancies following complete and partial hydatidiform moles
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HUMAN REPRODUCTION (2015)
Prospective risk of stillbirth in women with placental mesenchymal dysplasia
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JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH (2015)
Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting
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PLOS GENETICS (2015)
Genetics and Epigenetics of Recurrent Hydatidiform Moles: Basic Science and Genetic Counselling
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CURRENT OBSTETRICS AND GYNECOLOGY REPORTS (2014)
Mutations in NLRP7 and KHDC3L Confer a Complete Hydatidiform Mole Phenotype on Digynic Triploid Conceptions
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The relationship of maternal age to molar pregnancy incidence, risks for chemotherapy and subsequent pregnancy outcome
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JOURNAL OF OBSTETRICS AND GYNAECOLOGY (2013)
Maternal NLRP7 and C6orf221 variants are not a common risk factor for androgenetic moles, triploidy and recurrent miscarriage
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Mutations in NLRP7 are associated with diploid biparental hydatidiform moles, but not androgenetic complete moles
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JOURNAL OF MEDICAL GENETICS (2012)
Mosaic moles and non-familial biparental moles are not caused by mutations in NLRP7, NLRP2 or C6orf221
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MOLECULAR HUMAN REPRODUCTION (2012)
Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte
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AMERICAN JOURNAL OF HUMAN GENETICS (2011)
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Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region
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Women Heterozygous for NALP7/NLRP7 Mutations Are at Risk for Reproductive Wastage: Report of Two Novel Mutations
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HUMAN MUTATION (2007)
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HUMAN REPRODUCTION (2007)
Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans
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PRENATAL DIAGNOSIS (2005)
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The maternally transcribed gene p57KIP2 (CDNK1C) is abnormally expressed in both androgenetic and biparental complete hydatidiform moles
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LANCET (2002)
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