Associated Papers
ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.
Enyedi EE et al.
Biomedicines, 2024
38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf
Structural basis of the subcortical maternal complex and its implications in reproductive disorders.
Chi P et al.
Nature Structural & Molecular Biology, 2024
38177687 (PubMed )
Supplement: 41594_2023_1153_MOESM3_ESM.xlsx › Table_S1
NLRP7 and KHDC3L variants in Chinese patients with recurrent hydatidiform moles.
Ji M et al.
Japanese Journal of Clinical Oncology, 2019
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 2018
29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › Feuil3
Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.
Bakhchane A et al.
Plos One, 2017
28472130 (PubMed )
Supplement: pone.0176516.s002.xlsx › Feuil1
Two novel mutations in the KHDC3L gene in Asian patients with recurrent hydatidiform mole.
Rezaei M et al.
Human Genome Variation, 2016
No evidence for mutations in NLRP7 and KHDC3L in women with androgenetic hydatidiform moles.
Mahadevan S et al.
Prenatal Diagnosis, 2013
NLRP7 or KHDC3L genes and the etiology of molar pregnancies and recurrent miscarriage.
Andreasen L et al.
Molecular Human Reproduction, 2013
Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7.
Reddy R et al.
European Journal of Human Genetics : Ejhg, 2013
Maternal NLRP7 and C6orf221 variants are not a common risk factor for androgenetic moles, triploidy and recurrent miscarriage.
Manokhina I et al.
Molecular Human Reproduction, 2013
Mosaic moles and non-familial biparental moles are not caused by mutations in NLRP7, NLRP2 or C6orf221.
Andreasen L et al.
Molecular Human Reproduction, 2012
Absence of KHDC3L mutations in Chinese patients with recurrent and sporadic hydatidiform moles.
Zhao W et al.
Cancer Genetics, 0
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