Z. Kibar

发表

Loss-of-function de novo mutations play an important role in severe human neural tube defects

Guy A Rouleau, Dan Spiegelman, G. Rouleau, 2015, Journal of Medical Genetics.

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

François Dubeau, Guillaume Bourque, Ange-Line Bruel, 2017, American journal of human genetics.

Ltap, a mammalian homolog of Drosophila Strabismus/Van Gogh, is altered in the mouse neural tube mutant Loop-tail

M. Justice, K. Vogan, P. Gros, 2001, Nature Genetics.

Satan has afflicted me ! " Jinn-possession and mental illness in the Qur ' an

N. Patterson, S. Mallick, A. McFadyen, 2018 .

Mutations in GJB6 cause hidrotic ectodermal dysplasia

S. Antonarakis, D. Kelsell, G. Rouleau, 2000, Nature Genetics.

A new murine Rpl5 (uL18) mutation provides a unique model of variably penetrant Diamond-Blackfan anemia

M. Justice, V. Kaartinen, J. Engel, 2021, Blood advances.

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

M. Guyot, P. De Marco, E. Merello, 2017, Human molecular genetics.

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

P. Gros, P. Drapeau, E. Merello, 2010, Mechanisms of Development.

Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis

G. Rouleau, D. Spiegelman, Z. Kibar, 2022, Thyroid : official journal of the American Thyroid Association.

Genetic Testing in a Cohort of Complex Esophageal Atresia

E. Lemyre, Philippe M. Campeau, Z. Kibar, 2017, Molecular Syndromology.

A new murine Rpl5 (uL18) mutation provides a unique model of variably penetrant Diamond-Blackfan anemia

J. D. Engel, M. Justice, V. Kaartinen, 2021, bioRxiv.

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

C. Fallet-Bianco, E. Lemyre, D. Chitayat, 2017, Genetics in Medicine.

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

E. Merello, V. Capra, Z. Kibar, 2013, Birth defects research. Part A, Clinical and molecular teratology.

Whole‐genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype

E. Lemyre, V. Désilets, J. Michaud, 2012, Clinical genetics.

Identification of a new chemically induced allele (Lp(m1Jus)) at the loop-tail locus: morphology, histology, and genetic mapping.

M. Justice, P. Gros, Z. Kibar, 2001, Genomics.

Use of Morphometric Mapping to Characterise Symptomatic Chiari-Like Malformation, Secondary Syringomyelia and Associated Brachycephaly in the Cavalier King Charles Spaniel

A. McFadyen, Z. Kibar, R. L. La Ragione, 2017, PloS one.

Identification and Biochemical Characterization of a Novel Mutation in DDX11 Causing Warsaw Breakage Syndrome

E. Chouery, A. Mégarbané, G. Rouleau, 2013, Human mutation.

Contribution of VANGL2 mutations to isolated neural tube defects

P. Gros, E. Merello, V. Capra, 2011, Clinical genetics.

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

M. Justice, P. Gros, P. Drapeau, 2011, Developmental dynamics : an official publication of the American Association of Anatomists.

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

P. Gros, Z. Kibar, Cynthia Horth, 2011, Biochemistry.

Quantitative Analysis of Chiari-Like Malformation and Syringomyelia in the Griffon Bruxellois Dog

A. McFadyen, Z. Kibar, C. Rusbridge, 2014, PloS one.

Connexin46 mutations in autosomal dominant congenital cataract.

S. Bhattacharya, S. Bhattacharya, G. Rouleau, 1999, American journal of human genetics.

Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping

S. Antonarakis, D. Kelsell, M. Dubé, 2000, European Journal of Human Genetics.

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

P. Drapeau, E. Merello, V. Capra, 2015, Birth defects research. Part A, Clinical and molecular teratology.

Expanding the mutational spectrum associated to neural tube defects: literature revision and description of novel VANGL1 mutations.

E. Merello, V. Capra, Z. Kibar, 2015, Birth defects research. Part A, Clinical and molecular teratology.

FZD6 is a novel gene for human neural tube defects

E. Merello, V. Capra, Z. Kibar, 2011, Human mutation.

Human neural tube defects: genetic causes and prevention.

E. Merello, V. Capra, Z. Kibar, 2011, BioFactors.

Mutations in VANGL1 associated with neural-tube defects.

J. Wallingford, J. Berghout, P. Gros, 2007, The New England journal of medicine.

Toward understanding the genetic basis of neural tube defects

P. Gros, V. Capra, Z. Kibar, 2007, Clinical genetics.

Impact of assisted reproduction, infertility, sex and paternal factors on the placental DNA methylome

R. Weksberg, M. Brudno, A. Turinsky, 2018, Human molecular genetics.

Genetic basis of neural tube defects.

A. Bassuk, Z. Kibar, 2009, Seminars in pediatric neurology.

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

V. Capra, Z. Kibar, P. de Marco, 2019, Cells.

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

G. Rouleau, P. Lemay, Z. Kibar, 2018, BMC Genetics.

Quantitative Trait Loci (QTL) Study Identifies Novel Genomic Regions Associated to Chiari-Like Malformation in Griffon Bruxellois Dogs

G. Rouleau, P. Lemay, Z. Kibar, 2014, PloS one.

Gain‐of‐Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment

J. Rosenfeld, E. Roeder, F. Xia, 2016, Human mutation.

Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway.

M. Justice, M. Guyot, E. Merello, 2014, Human molecular genetics.

The Impairment of MAGMAS Function in Human Is Responsible for a Severe Skeletal Dysplasia

A. Munnich, E. Chouery, A. Mégarbané, 2014, PLoS genetics.

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

A. Mégarbané, F. Hamdan, J. Michaud, 2015, European journal of medical genetics.

Severe Congenital Hypothyroidism Due to a Novel Deep Intronic Mutation in the TSH Receptor Gene Causing Intron Retention

Z. Kibar, F. Magne, A. Petryk, 2020, Journal of the Endocrine Society.

Genomic structure of the human GT334 (EHOC-1) gene mapping to 21q22.3.

J. Rommens, M. Dubé, G. Rouleau, 1997, Gene.

Rare deleterious variants in GRHL3 are associated with human spina bifida

G. Rouleau, A. Dionne‐Laporte, P. Lemay, 2017, Human mutation.

Transcription mapping and expression analysis of candidate genes in the vicinity of the mouse Loop-tail mutation

J. Rommens, K. Vogan, P. Gros, 2000, Mammalian Genome.

A radiation hybrid map of 48 loci including the clouston hidrotic ectodermal dysplasia locus in the pericentromeric region of chromosome 13q.

A. Chakravarti, G. Rouleau, M. Chevrette, 1999, Genomics.

The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q.

B. Brais, G. Rouleau, Z. Kibar, 1996, Human molecular genetics.

A 1.5-Mb physical map of the hidrotic ectodermal dysplasia (Clouston syndrome) gene region on human chromosome 13q11.

G. Rouleau, Z. Kibar, J. Lamartine, 2000, Genomics.

Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French family

G. Rouleau, L. Dubertret, Z. Kibar, 2000, The British journal of dermatology.

Exome sequencing of two Italian pedigrees with non-isolated Chiari malformation type I reveals candidate genes for cranio-facial development

A. Magi, E. Merello, V. Capra, 2017, European Journal of Human Genetics.

Isolation and characterization of GT335, a novel human gene conserved in Escherichia coli and mapping to 21q22.3.

J. Rommens, G. Rouleau, E. Andermann, 1996, Genomics.

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

A. Bassuk, P. Drapeau, E. Merello, 2011, Human mutation.

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

P. Gros, M. Guyot, Z. Kibar, 2018, Mammalian Genome.

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

E. Merello, V. Capra, Z. Kibar, 2014, Birth defects research. Part A, Clinical and molecular teratology.

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

E. Merello, V. Capra, Z. Kibar, 2012, Birth defects research. Part A, Clinical and molecular teratology.

Developmental Biology: Frontiers for Clinical Genetics

P. Gros, V. Capra, Z. Kibar, 2007 .

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

E. Merello, V. Capra, Z. Kibar, 2015, Birth defects research. Part A, Clinical and molecular teratology.

Genetic Analysis of Disheveled 2 and Disheveled 3 in Human Neural Tube Defects

E. Merello, V. Capra, Z. Kibar, 2012, Journal of Molecular Neuroscience.

Novel mutations in VANGL1 in neural tube defects

A. Bassuk, R. Finnell, P. Gros, 2009, Human mutation.

Hereditary spastic paraplegia: LOD-score considerations for confirmation of linkage in a heterogeneous trait.

M. Dubé, G. Ebers, M. Farlow, 1997, American journal of human genetics.

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

P. Gros, Z. Kibar, S. Vidal, 2003, Genomics.

Whole exome sequencing identifies novel predisposing genes in neural tube defects

G. Rouleau, A. Dionne‐Laporte, P. Lemay, 2018, Molecular genetics & genomic medicine.

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

C. Fallet-Bianco, E. Lemyre, D. Chitayat, 2018, Genetics in Medicine.

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

J. Rosenfeld, I. Scheffer, H. Mefford, 2017, American journal of human genetics.

Risk of meningomyelocele mediated by the common 22q11.2 deletion

R. Stevenson, H. Meltzer, K. Aldinger, 2024, Science.