Zoha Kibar

Zoha Kibar

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Zoha Kibar

Zoha Kibar

Publications by authors named "Zoha Kibar"

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Update on the Role of the Non-Canonical Wnt/Planar Cell Polarity Pathway in Neural Tube Defects.

Cells 2019 10 4;8(10). Epub 2019 Oct 4.

Department of Neurosciences, University of Montreal and CHU Sainte Justine Research Center, Montreal, QC H3T1C5, Canada.

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http://dx.doi.org/10.3390/cells8101198DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6829399PMC
October 2019

Identification and characterization of a novel chemically induced allele at the planar cell polarity gene Vangl2.

Mamm Genome 2018 04 24;29(3-4):229-244. Epub 2017 Oct 24.

CHU Sainte-Justine Research Center, Montréal, QC, Canada.

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http://dx.doi.org/10.1007/s00335-017-9721-8DOI Listing
April 2018

A genome-wide association study identifies candidate loci associated to syringomyelia secondary to Chiari-like malformation in Cavalier King Charles Spaniels.

BMC Genet 2018 03 22;19(1):16. Epub 2018 Mar 22.

Department of Neurosciences, CHU Sainte Justine Research Center, University of Montréal, 3175 Cote-Sainte-Catherine, Room 3.17.006, Montreal, QC, H3T 1C5, Canada.

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http://dx.doi.org/10.1186/s12863-018-0605-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5865342PMC
March 2018

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673604PMC
November 2017

Genetic Testing in a Cohort of Complex Esophageal Atresia.

Mol Syndromol 2017 Aug 16;8(5):236-243. Epub 2017 Jun 16.

CHU Sainte-Justine Research Center, Department of Pediatrics, CHU Sainte-Justine, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1159/000477429DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5582425PMC
August 2017

Rare deleterious variants in GRHL3 are associated with human spina bifida.

Hum Mutat 2017 06 24;38(6):716-724. Epub 2017 Mar 24.

CHU Sainte Justine Research Center and University of Montréal, Montréal, Québec, Canada.

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http://dx.doi.org/10.1002/humu.23214DOI Listing
June 2017

Scribble1 plays an important role in the pathogenesis of neural tube defects through its mediating effect of Par-3 and Vangl1/2 localization.

Hum Mol Genet 2017 06;26(12):2307-2320

Department of Neurosciences, CHU Sainte Justine Research Center, University of Montréal, Montréal, QC H3T 1C5, Canada.

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http://dx.doi.org/10.1093/hmg/ddx122DOI Listing
June 2017

Role of the planar cell polarity gene Protein tyrosine kinase 7 in neural tube defects in humans.

Birth Defects Res A Clin Mol Teratol 2015 Dec 14;103(12):1021-7. Epub 2015 Sep 14.

CHU Ste-Justine Research Center, Montréal, Québec, Canada.

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http://dx.doi.org/10.1002/bdra.23422DOI Listing
December 2015

Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay.

Eur J Med Genet 2015 Dec 11;58(12):637-41. Epub 2015 Nov 11.

Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon; Institut Jérôme Lejeune, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.11.005DOI Listing
December 2015

Quantitative analysis of Chiari-like malformation and syringomyelia in the Griffon Bruxellois dog.

PLoS One 2014 12;9(2):e88120. Epub 2014 Feb 12.

Neurology Department, Fitzpatrick Referrals, Godalming, Surrey, United Kingdom ; School of Veterinary Medicine, Faculty of Health & Medical Sciences, University of Surrey, Guildford, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0088120PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3922758PMC
January 2015

Genetic studies of ANKRD6 as a molecular switch between Wnt signaling pathways in human neural tube defects.

Birth Defects Res A Clin Mol Teratol 2015 Jan 8;103(1):20-6. Epub 2014 Sep 8.

Department of Neurosciences, CHU Sainte Justine Research Center and University of Montréal, Genova, Italy.

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http://dx.doi.org/10.1002/bdra.23273DOI Listing
January 2015

Planar cell polarity gene mutations contribute to the etiology of human neural tube defects in our population.

Birth Defects Res A Clin Mol Teratol 2014 Aug 17;100(8):633-41. Epub 2014 May 17.

Istituto Giannina Gaslini, Genova, Italy.

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http://dx.doi.org/10.1002/bdra.23255DOI Listing
August 2014

The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia.

PLoS Genet 2014 May 1;10(5):e1004311. Epub 2014 May 1.

Unité de Génétique Médicale et Laboratoire International associé INSERM à l'Unité UMR_S 910, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.

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http://dx.doi.org/10.1371/journal.pgen.1004311DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4006740PMC
May 2014

Rare missense variants in DVL1, one of the human counterparts of the Drosophila dishevelled gene, do not confer increased risk for neural tube defects.

Birth Defects Res A Clin Mol Teratol 2013 Jul 8;97(7):452-5. Epub 2013 Jul 8.

UOC Neurochirurgia, Istituto Giannina Gaslini, Genova, Italia.

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http://dx.doi.org/10.1002/bdra.23157DOI Listing
July 2013

Genetic analysis of disheveled 2 and disheveled 3 in human neural tube defects.

J Mol Neurosci 2013 Mar 15;49(3):582-8. Epub 2012 Aug 15.

Neurosurgery Department, G. Gaslini Institute, Genova, 16148, Italy.

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http://dx.doi.org/10.1007/s12031-012-9871-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3566388PMC
March 2013

Human neural tube defects: genetic causes and prevention.

Biofactors 2011 Jul-Aug;37(4):261-8. Epub 2011 Jun 14.

U.O. Neurochirurgia, Istituto G. Gaslini, Genova, Italy.

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http://dx.doi.org/10.1002/biof.170DOI Listing
March 2012

Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis.

Birth Defects Res A Clin Mol Teratol 2012 Mar 28;94(3):176-81. Epub 2012 Feb 28.

Department of Obstetrics and Gynecology, CHU Sainte Justine Research Center and University of Montréal, Montréal, Canada.

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http://dx.doi.org/10.1002/bdra.23002DOI Listing
March 2012

FZD6 is a novel gene for human neural tube defects.

Hum Mutat 2012 Feb 28;33(2):384-90. Epub 2011 Nov 28.

Neurosurgery Department, G. Gaslini Institute, Genova, Italy.

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http://doi.wiley.com/10.1002/humu.21643
Publisher Site
http://dx.doi.org/10.1002/humu.21643DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3482927PMC
February 2012

Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects.

Hum Mutat 2011 Dec 23;32(12):1371-5. Epub 2011 Sep 23.

Department of Obstetrics and Gynecology, CHU Sainte Justine Research Center and University of Montreal, Montreal, Canada.

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http://dx.doi.org/10.1002/humu.21589DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3217084PMC
December 2011

A novel hypomorphic Looptail allele at the planar cell polarity Vangl2 gene.

Dev Dyn 2011 Apr 18;240(4):839-49. Epub 2011 Feb 18.

Department of Obstetrics and Gynecology, CHU Sainte Justine Research Center and University of Montreal, Montreal, Canada.

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http://dx.doi.org/10.1002/dvdy.22577DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3593115PMC
April 2011

Loss of membrane targeting of Vangl proteins causes neural tube defects.

Biochemistry 2011 Feb 13;50(5):795-804. Epub 2011 Jan 13.

Department of Biochemistry and Complex Traits Program, McGill University, Montreal, Canada H3G 0B1.

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http://dx.doi.org/10.1021/bi101286dDOI Listing
February 2011

VANGL1 rare variants associated with neural tube defects affect convergent extension in zebrafish.

Mech Dev 2010 Jul-Aug;127(7-8):385-92. Epub 2010 Jan 4.

Department of Obstetrics and Gynecology, CHU Sainte Justine Research Center and University of Montreal, Montreal, Quebec, Canada H3T 1C5.

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http://dx.doi.org/10.1016/j.mod.2009.12.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2965831PMC
January 2011

Genetic basis of neural tube defects.

Semin Pediatr Neurol 2009 Sep;16(3):101-10

Department of Pediatrics, University of Iowa, Iowa City, IA, USA.

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http://dx.doi.org/10.1016/j.spen.2009.06.001DOI Listing
September 2009

Novel mutations in VANGL1 in neural tube defects.

Hum Mutat 2009 Jul;30(7):E706-15

CHU Sainte Justine Research Center, Department of Obstetrics and Gynecology, University of Montreal, Montreal, QC, Canada. zoha.kibar@ recherche-ste-justine.qc.ca

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http://dx.doi.org/10.1002/humu.21026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2885434PMC
July 2009

Rescue of the neural tube defect of loop-tail mice by a BAC clone containing the Ltap gene.

Genomics 2003 Sep;82(3):397-400

Department of Biochemistry, McGill Cancer Center, Center for the Study of Host Resistance, McGill University, Montreal, QC, Canada H3G-1Y6.

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http://dx.doi.org/10.1016/s0888-7543(03)00113-7DOI Listing
September 2003