Department of Experimental Medicine,
Department of Human Genetics,
Department of Obstetrics and Gynecology
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Evidence of a genetic heterogeneity of familial hydatidiform moles.
Placenta Jan, 2005 | Pubmed ID: 15664405
Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans.
Nature genetics Mar, 2006 | Pubmed ID: 16462743
Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation.
Human genetics Oct, 2006 | Pubmed ID: 16874523
The genetics of hydatidiform moles: new lights on an ancient disease.
Clinical genetics Jan, 2007 | Pubmed ID: 17204043
Women heterozygous for NALP7/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutations.
Human mutation Jul, 2007 | Pubmed ID: 17579354
NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation.
Human molecular genetics Mar, 2009 | Pubmed ID: 19066229
A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness.
European journal of human genetics : EJHG Aug, 2009 | Pubmed ID: 19190672
A strong founder effect for two NLRP7 mutations in the Indian population: an intriguing observation.
Clinical genetics Sep, 2009 | Pubmed ID: 19650864
A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes.
Genome research Mar, 2011 | Pubmed ID: 21324877
Recurrent triploid and dispermic conceptions in patients with NLRP7 mutations.
Placenta May, 2011 | Pubmed ID: 21421271
A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome.
Ophthalmic genetics Nov, 2011 | Pubmed ID: 21675857
NLRP7 and the genetics of post-molar choriocarcinomas in Senegal.
Molecular human reproduction Jan, 2012 | Pubmed ID: 21948117
NLRP7, a nucleotide oligomerization domain-like receptor protein, is required for normal cytokine secretion and co-localizes with Golgi and the microtubule-organizing center.
The Journal of biological chemistry Dec, 2011 | Pubmed ID: 22025618
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.
Orphanet journal of rare diseases Sep, 2012 | Pubmed ID: 22938382
Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7.
European journal of human genetics : EJHG Dec, 2012 | Pubmed ID: 23232697
NLRP7 and the Genetics of Hydatidiform Moles: Recent Advances and New Challenges.
Frontiers in immunology , 2013 | Pubmed ID: 23970884
Genetics and Epigenetics of Recurrent Hydatidiform Moles: Basic Science and Genetic Counselling.
Current obstetrics and gynecology reports , 2014 | Pubmed ID: 24533231
NLRP7 inter-domain interactions: the NACHT-associated domain is the physical mediator for oligomeric assembly.
Molecular human reproduction Oct, 2014 | Pubmed ID: 25082979
Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation.
Journal of medical genetics Sep, 2014 | Pubmed ID: 25097207
Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing.
PloS one , 2014 | Pubmed ID: 25211151
NLRP7 and KHDC3L, the two maternal-effect proteins responsible for recurrent hydatidiform moles, co-localize to the oocyte cytoskeleton.
Human reproduction (Oxford, England) Jan, 2015 | Pubmed ID: 25358348
Live births in women with recurrent hydatidiform mole and two NLRP7 mutations.
Reproductive biomedicine online Jul, 2015 | Pubmed ID: 25982095
The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions.
European journal of human genetics : EJHG 10, 2016 | Pubmed ID: 26956250
Circulating Tumor DNA: A Potential Novel Diagnostic Approach in Gestational Trophoblastic Neoplasia.
EBioMedicine Feb, 2016 | Pubmed ID: 26981562
Two novel mutations in the KHDC3L gene in Asian patients with recurrent hydatidiform mole.
Human genome variation , 2016 | Pubmed ID: 27621838
Pathogenic variant in (19q13.42) associated with recurrent gestational trophoblastic disease: Data from early embryo development observed during fertilization.
Clinical and experimental reproductive medicine Mar, 2017 | Pubmed ID: 28428943
Recurrent triploid digynic conceptions and mature ovarian teratomas: Are they different manifestations of the same genetic defect?
Genes, chromosomes & cancer 12, 2017 | Pubmed ID: 28730668
Antagonism of EG-VEGF Receptors as Targeted Therapy for Choriocarcinoma Progression and .
Clinical cancer research : an official journal of the American Association for Cancer Research Nov, 2017 | Pubmed ID: 28899975
The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 07, 2018 | Pubmed ID: 29463882
Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles.
European journal of human genetics : EJHG 07, 2018 | Pubmed ID: 29693651
A bioinformatics transcriptome meta-analysis highlights the importance of trophoblast differentiation in the pathology of hydatidiform moles.
Placenta 05, 2018 | Pubmed ID: 29908639
Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles.
American journal of human genetics 11, 2018 | Pubmed ID: 30388401
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