Rima Slim Department of Experimental Medicine McGill University Biography Publications Institution JoVE Articles Rima Slim has not added a biography. If you are Rima Slim and would like to personalize this page please email our Author Liaison for assistance. Publications Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles American Journal of Human Genetics. 11, 2018 | Pubmed ID: 30388401 A Bioinformatics Transcriptome Meta-analysis Highlights the Importance of Trophoblast Differentiation in the Pathology of Hydatidiform Moles Placenta. 05, 2018 | Pubmed ID: 29908639 Biallelic PADI6 Variants Linking Infertility, Miscarriages, and Hydatidiform Moles European Journal of Human Genetics : EJHG. 07, 2018 | Pubmed ID: 29693651 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 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 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 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 Two Novel Mutations in the KHDC3L Gene in Asian Patients with Recurrent Hydatidiform Mole Human Genome Variation. 2016 | Pubmed ID: 27621838 Circulating Tumor DNA: A Potential Novel Diagnostic Approach in Gestational Trophoblastic Neoplasia EBioMedicine. Feb, 2016 | Pubmed ID: 26981562 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 Live Births in Women with Recurrent Hydatidiform Mole and Two NLRP7 Mutations Reproductive Biomedicine Online. Jul, 2015 | Pubmed ID: 25982095 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 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 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 NLRP7 Inter-domain Interactions: the NACHT-associated Domain is the Physical Mediator for Oligomeric Assembly Molecular Human Reproduction. Oct, 2014 | Pubmed ID: 25082979 Genetics and Epigenetics of Recurrent Hydatidiform Moles: Basic Science and Genetic Counselling Current Obstetrics and Gynecology Reports. 2014 | Pubmed ID: 24533231 NLRP7 and the Genetics of Hydatidiform Moles: Recent Advances and New Challenges Frontiers in Immunology. 2013 | Pubmed ID: 23970884 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 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 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 A Novel 5-bp Deletion in Clarin 1 in a Family with Usher Syndrome Ophthalmic Genetics. Nov, 2011 | Pubmed ID: 21675857 Recurrent Triploid and Dispermic Conceptions in Patients with NLRP7 Mutations Placenta. May, 2011 | Pubmed ID: 21421271 A Novel Approach Identifies New Differentially Methylated Regions (DMRs) Associated with Imprinted Genes Genome Research. Mar, 2011 | Pubmed ID: 21324877 A Strong Founder Effect for Two NLRP7 Mutations in the Indian Population: an Intriguing Observation Clinical Genetics. Sep, 2009 | Pubmed ID: 19650864 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 NLRP7 Mutations in Women with Diploid Androgenetic and Triploid Moles: a Proposed Mechanism for Mole Formation Human Molecular Genetics. Mar, 2009 | Pubmed ID: 19066229 Women Heterozygous for NALP7/NLRP7 Mutations Are at Risk for Reproductive Wastage: Report of Two Novel Mutations Human Mutation. Jul, 2007 | Pubmed ID: 17579354 The Genetics of Hydatidiform Moles: New Lights on an Ancient Disease Clinical Genetics. Jan, 2007 | Pubmed ID: 17204043 Familial Molar Tissues Due to Mutations in the Inflammatory Gene, NALP7, Have Normal Postzygotic DNA Methylation Human Genetics. Oct, 2006 | Pubmed ID: 16874523 Mutations in NALP7 Cause Recurrent Hydatidiform Moles and Reproductive Wastage in Humans Nature Genetics. Mar, 2006 | Pubmed ID: 16462743 Evidence of a Genetic Heterogeneity of Familial Hydatidiform Moles Placenta. Jan, 2005 | Pubmed ID: 15664405 Микроспутниковая ДНК Генотипирование и поток Цитометрия Плоиди Анализ формалин фиксированной Парафин-встроенный Hydatidiform Моляровые ткани Yassemine Khawajkie1, Nawel Mechtouf2, Phuong Nguyen2, Rima Slim1,2,3 1Department of Experimental Medicine, McGill University, 2Department of Human Genetics, McGill University, 3Department of Obstetrics and Gynecology, McGill University JoVE 60366 Genética
Микроспутниковая ДНК Генотипирование и поток Цитометрия Плоиди Анализ формалин фиксированной Парафин-встроенный Hydatidiform Моляровые ткани Yassemine Khawajkie1, Nawel Mechtouf2, Phuong Nguyen2, Rima Slim1,2,3 1Department of Experimental Medicine, McGill University, 2Department of Human Genetics, McGill University, 3Department of Obstetrics and Gynecology, McGill University JoVE 60366 Genética