Rima Slim

Summary

Affiliation: McGill University Health Center Research Institute
Location: Montreal, canada
URL: http://slimlab.mcgill.ca/

Publications

  1. ncbi request reprint Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation
    Ugljesa Djuric
    Departments of Human Genetics and Obstetrics and Gynecology, McGill University Health Center, Montreal, Canada, H3G 1A4
    Hum Genet 120:390-5. 2006
  2. ncbi request reprint Women heterozygous for NALP7/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutations
    Jinhua Qian
    Departments of Human Genetics and Obstetrics Gynecology, McGill University Health Centre, Montreal Quebec, Canada
    Hum Mutat 28:741. 2007
  3. ncbi request reprint Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans
    Sharlene Murdoch
    Department of Human Genetics, McGill University Health Center, Montreal H3G 1A4, Canada
    Nat Genet 38:300-2. 2006
  4. doi request reprint The infevers autoinflammatory mutation online registry: update with new genes and functions
    Florian Milhavet
    Institut de Genetique Humaine, CNRS UPR1142, Montpellier, France
    Hum Mutat 29:803-8. 2008
  5. ncbi request reprint Patients with familial biparental hydatidiform moles have normal methylation at imprinted genes
    Osman El-Maarri
    Institute of Experimental Haematology and Transfusion Medicine, Bonn, Germany
    Eur J Hum Genet 13:486-90. 2005
  6. doi request reprint NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation
    Catherine Deveault
    Department of Human Genetics, McGill University Health Center, Montreal H3G 1A4, Canada
    Hum Mol Genet 18:888-97. 2009
  7. pmc A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes
    Sanaa Choufani
    Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
    Genome Res 21:465-76. 2011
  8. ncbi request reprint Genetic mapping of a maternal locus responsible for familial hydatidiform moles
    Y B Moglabey
    Department of Biochemistry, American University of Beirut, PO Box 11 236, Beirut, Lebanon
    Hum Mol Genet 8:667-71. 1999
  9. doi request reprint The genetics of recurrent hydatidiform moles in China: correlations between NLRP7 mutations, molar genotypes and reproductive outcomes
    Jianhua Qian
    Women s Reproductive Health Laboratory, Women s Hospital, Zhejiang University School of Medicine, Hangzhou, China
    Mol Hum Reprod 17:612-9. 2011
  10. ncbi request reprint Detailed gene and allele content analysis of three homozygous KIR haplotypes
    S Murdoch
    Department of Human Genetics, McGill University Health Center, Montreal, Quebec, Canada
    Tissue Antigens 68:72-7. 2006

Collaborators

  • Xing Xie
  • Rashmi Bagga
  • Osman El-Maarri
  • Lisa G Shaffer
  • Jorn Walter
  • Isabelle Touitou
  • Guy A Rouleau
  • Stephen W Scherer
  • Hal M Hoffman
  • Hatem El-Shanti
  • Qi Cheng
  • Rosanna Weksberg
  • Joseph Beyene
  • David Courtin
  • M Fallahian
  • X Z Liu
  • T P Dryja
  • Philippe Coullin
  • Jianhua Qian
  • Wafaa Chebaro
  • Catherine Deveault
  • Sharlene Murdoch
  • Ugljesa Djuric
  • Sanaa Choufani
  • Christiane Messaed
  • Lucy Gilbert
  • Seang Lin Tan
  • Florian Milhavet
  • Rabia Khan
  • Asangla Ao
  • Jinhua Qian
  • Muheiddine Seoud
  • S Murdoch
  • Rork Kuick
  • Samir Hanash
  • C Petit
  • M Seoud
  • R Kircheisen
  • M M DeAngelis
  • Alice Benjamin
  • Huijuan Gao
  • Nga Man Lau
  • Francois Golfier
  • Cécile Rittore
  • Isabelle Girard
  • Jonathan S Shapiro
  • Jocelyne Arseneau
  • William Buckett
  • Martha Susiarjo
  • Lori Hoffner
  • Urvashi Surti
  • Jose C Ferreira
  • Kurt Bernishke
  • Marisa S Bartolomei
  • Muhieddine Seoud
  • Daria Grafodatskaya
  • Darci T Butcher
  • Adnan El-Hassan
  • Radhika Srinivasan
  • Yimin Zhu
  • Youliang Lou
  • B J Keats
  • Chengming Xu
  • Ghazi Zaatari
  • Isabella Caniggia
  • Ariel Schneider
  • Raphael B Di Roberto
  • Annie Cheung
  • Xiaofei Zhang
  • Feodora Stipoljev
  • Srinivasan Krishnamurty
  • Moy Fong Chen
  • Fan Jin
  • Magali Breguet
  • James C Engert
  • Deborah Cohen
  • Dalila Pinto
  • R J McKinlay Gardner
  • Philippe Sauthier
  • E Verpy
  • Amira Mehio
  • Jian Hua Qian
  • Anita Wischmeijer
  • S Blanchard
  • Suzanne Lesage
  • Ivona Aksentijevich
  • Hans Waterham
  • Y B Moglabey
  • Cyril Sarrauste de Menthiere
  • Carol Wise

Detail Information

Publications26

  1. ncbi request reprint Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation
    Ugljesa Djuric
    Departments of Human Genetics and Obstetrics and Gynecology, McGill University Health Center, Montreal, Canada, H3G 1A4
    Hum Genet 120:390-5. 2006
    ..The known role of NALP7 in apoptosis and inflammation pinpoints previously unrecognized pathways that could directly or indirectly underlie the abnormal methylation of imprinted genes in molar tissues...
  2. ncbi request reprint Women heterozygous for NALP7/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutations
    Jinhua Qian
    Departments of Human Genetics and Obstetrics Gynecology, McGill University Health Centre, Montreal Quebec, Canada
    Hum Mutat 28:741. 2007
    ..Our data on this new family and on heterozygous women from previously reported families indicate that women heterozygous for NLRP7 mutations are at risk for reproductive wastage without the manifestation of molar phenotype...
  3. ncbi request reprint Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans
    Sharlene Murdoch
    Department of Human Genetics, McGill University Health Center, Montreal H3G 1A4, Canada
    Nat Genet 38:300-2. 2006
    ..NALP7 is the first maternal effect gene identified in humans and is also responsible for recurrent spontaneous abortions, stillbirths and intrauterine growth retardation...
  4. doi request reprint The infevers autoinflammatory mutation online registry: update with new genes and functions
    Florian Milhavet
    Institut de Genetique Humaine, CNRS UPR1142, Montpellier, France
    Hum Mutat 29:803-8. 2008
    ....
  5. ncbi request reprint Patients with familial biparental hydatidiform moles have normal methylation at imprinted genes
    Osman El-Maarri
    Institute of Experimental Haematology and Transfusion Medicine, Bonn, Germany
    Eur J Hum Genet 13:486-90. 2005
    ....
  6. doi request reprint NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation
    Catherine Deveault
    Department of Human Genetics, McGill University Health Center, Montreal H3G 1A4, Canada
    Hum Mol Genet 18:888-97. 2009
    ..In women with normal immune system, chaotic mosaic aneuploidies may also occur during early cleavage, however, androgenetic cells would die after implantation or stay undetected, confined to a small portion of the placenta...
  7. pmc A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes
    Sanaa Choufani
    Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
    Genome Res 21:465-76. 2011
    ....
  8. ncbi request reprint Genetic mapping of a maternal locus responsible for familial hydatidiform moles
    Y B Moglabey
    Department of Biochemistry, American University of Beirut, PO Box 11 236, Beirut, Lebanon
    Hum Mol Genet 8:667-71. 1999
    ..3-13.4 in a 15.2 cM interval flanked by D19S924 and D19S890. The identification of a gene for HM adds new insights into the molecular genetics of early embryogenesis and may be relevant to the large number of patients with sporadic HM...
  9. doi request reprint The genetics of recurrent hydatidiform moles in China: correlations between NLRP7 mutations, molar genotypes and reproductive outcomes
    Jianhua Qian
    Women s Reproductive Health Laboratory, Women s Hospital, Zhejiang University School of Medicine, Hangzhou, China
    Mol Hum Reprod 17:612-9. 2011
    ..Our data suggest that patients with a single defective allele have better reproductive outcomes than patients with two defective alleles, and some of them may benefit from ART...
  10. ncbi request reprint Detailed gene and allele content analysis of three homozygous KIR haplotypes
    S Murdoch
    Department of Human Genetics, McGill University Health Center, Montreal, Quebec, Canada
    Tissue Antigens 68:72-7. 2006
    ..We provide a detailed analysis of their haplotypes and identify new alleles for KIR3DL3 and KIR2DL1. The primers we describe will be a valuable tool for studying the involvement of the KIR genes in various human diseases...
  11. ncbi request reprint The genetics of hydatidiform moles: new lights on an ancient disease
    R Slim
    Departments of Human Genetics, McGill University Health Center, Montreal H3G 1A4, Canada
    Clin Genet 71:25-34. 2007
    ..NALP7 could have a role either in oogenesis or in the endometrium during trophoblast invasion and decidualization. In this review, we outlined recent advances in the field of HMs and reviewed the literature in the light of the new data...
  12. doi request reprint NLRP7 and the genetics of post-molar choriocarcinomas in Senegal
    Rima Slim
    Department of Human Genetics, Montreal General Hospital Research Institute, McGill University Health Centre, L3 121 1650 Cedar Avenue, Montreal, Quebec, Canada P Q H3G 1A4
    Mol Hum Reprod 18:52-6. 2012
    ....
  13. pmc Recurrent triploid and dispermic conceptions in patients with NLRP7 mutations
    R Slim
    Department of Human Genetics, Montreal, Canada
    Placenta 32:409-12. 2011
    ..Altogether, our previous and current data show the association of NLRP7 mutations with several types of hydatidiform moles and with triploid spontaneous abortions...
  14. ncbi request reprint Evidence of a genetic heterogeneity of familial hydatidiform moles
    R Slim
    Department of Human Genetics, McGill University Health Center, Montreal, Canada H3G 1A4
    Placenta 26:5-9. 2005
    ..The identification of these factors may unravel natural ways to treat these forms of reproductive wastage and reverse the infertility of women with recurrent moles...
  15. doi request reprint NLRP7 in the spectrum of reproductive wastage: rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastage
    Christiane Messaed
    Montreal General Hospital Research Institute, 1650 Cedar Avenue, Montreal, Quebec, Canada
    J Med Genet 48:540-8. 2011
    ....
  16. ncbi request reprint A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C
    E Verpy
    Unité de Génétique des Déficits Sensoriels, CNRS URA 1968, Institut Pasteur, Paris Cedex 15, France
    Nat Genet 26:51-5. 2000
    ..As several of these transcripts were absent from the eye, we propose that USH1C also underlies the DFNB18 form of isolated deafness...
  17. ncbi request reprint Two families from New England with usher syndrome type IC with distinct haplotypes
    M M DeAngelis
    Ocular Molecular Genetics Institute, Massachusetts Eye and Ear Infirmary, 243 Charles St, Boston, MA 92114, USA
    Am J Ophthalmol 131:355-8. 2001
    ..Patients with Usher syndrome type IC can have the Acadian haplotype or the Lebanese haplotype compatible with the idea that at least two independently arising pathogenic mutations have occurred in the yet-to-be identified USH1C gene...
  18. ncbi request reprint Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient
    S Marlin
    Unité de Génétique des Déficits Sensoriels, Institut Pasteur, Paris, France
    Hum Mutat 14:377-86. 1999
    ..3;q12.1) translocation carried by a TBS-affected individual was mapped at least 180 kb telomeric to SALL1, thus indicating that a position effect underlies the disease in this individual...
  19. ncbi request reprint The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region
    M Saouda
    Department of Biochemistry, American University of Beirut, Lebanon
    Hum Genet 103:193-8. 1998
    ..Furthermore, haplotype comparison between the different families suggests a founder effect for the USH2A mutation among the different Lebanese ethnic groups, while a genetic heterogeneity is noted for Usher syndrome type I...
  20. ncbi request reprint Familial hydatidiform molar pregnancy: the germline imprinting defect hypothesis?
    O El-Maarri
    Institute of Experimental Hematology and Transfusion Medicine, Bonn, Germany
    Curr Top Microbiol Immunol 301:229-41. 2006
    ..In this chapter, we summarize what is known about methylation aberrations in HMs and examine more closely the proposed hypothesis of a maternal germline imprinting defect...
  21. ncbi request reprint A cytokine receptor gene cluster in the X-Y pseudoautosomal region?
    E Kremer
    Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, North Adelaide, Australia
    Blood 82:22-8. 1993
    ..Using long-range restriction mapping we have found that IL3RA maps to the same 190-kb restriction fragment as CSF2RA, suggesting that a cytokine receptor gene cluster may reside in the PAR...
  22. ncbi request reprint The human placental protein 14 (PP14) gene is localized on chromosome 9q34
    N Van Cong
    Laboratoire de Cytogénétique et de Génétique Oncologiques, UA 1158 CNRS, Institut Gustave Roussy, Villejuif, France
    Hum Genet 86:515-8. 1991
    ..The localization of the PP14 gene in the region of the ABO locus is consistent with the linkage described in bovines between beta-lactoglobulin and the J blood group (homologous to the human ABO group)...