C. Petit

发表

Cloning and characterization of the mouse collapsin response mediator protein-1, Crmp1.

M. Cohen-Salmon, F. Crozet, G. Rebillard, 1997, Mammalian genome : official journal of the International Mammalian Genome Society.

Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31

Steve D. M. Brown, A. Mallon, K. Steel, 2003, Nature Genetics.

DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34

M. Lathrop, C. Petit, M. Mustapha, 2002, European Journal of Human Genetics.

Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly.

P. Legrain, C. Petit, A. El-Amraoui, 2005, Human molecular genetics.

Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells

C. Petit, A. El-Amraoui, 2005, Journal of Cell Science.

Interactions in the network of Usher syndrome type 1 proteins.

U. Wolfrum, C. Petit, D. Weil, 2005, Human molecular genetics.

Audition: Hearing and Deafness

Paul Avan, Aziz El-Amraoui, Christine Petit, 2013 .

The auditory hair cell ribbon synapse: from assembly to function.

Aziz El-Amraoui, Christine Petit, C. Petit, 2012, Annual review of neuroscience.

Auditory hair cell centrioles undergo confined Brownian motion throughout the developmental migration of the kinocilium.

C. Petit, L. Lepelletier, J. B. de Monvel, 2013, Biophysical journal.

A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome

P. Coumel, C. Petit, J. Barhanin, 1997, Nature Genetics.

The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules

J. Weissenbach, D. Paslier, J. Claverie, 1991, Cell.

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

A. Mansour, C. Petit, S. Blanchard, 2000, Nature Genetics.

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.

C. Petit, M. Mustapha, D. Weil, 2003, Human molecular genetics.

Spontaneous Mouse Behavior in Presence of Dissonance and Acoustic Roughness

C. Petit, N. Michalski, B. Gourévitch, 2020, Frontiers in Behavioral Neuroscience.

ATP6V1B1 recurrent mutations in Algerian deaf patients associated with renal tubular acidosis.

C. Petit, M. Dahmani, Sonia Talbi, 2019, International journal of pediatric otorhinolaryngology.

Dual AAV-mediated gene therapy restores hearing in a DFNB9 mouse model

W. Hauswirth, P. Avan, C. Petit, 2019, Proceedings of the National Academy of Sciences.

Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip

C. Petit, F. Denoyelle, V. Drouin‐Garraud, 2007, European Journal of Human Genetics.

Probing the Functional Equivalence of Otoferlin and Synaptotagmin 1 in Exocytosis

Chris S Bresee, Chris S. Bresee, S. Kügler, 2011, The Journal of Neuroscience.

Characterization of the chicken and quail homologues of the human gene responsible for the X-linked Kallmann syndrome.

M. Cohen-Salmon, C. Petit, R. Legouis, 1993, Genomics.

Genes responsible for human hereditary deafness: symphony of a thousand

C. Petit, 1996, Nature Genetics.

A sensorineural progressive autosomal recessive form of isolated deafness, DFNB13, maps to chromosome 7q34-q36

Jean Weissenbach, Christine Petit, J. Weissenbach, 1998, European Journal of Human Genetics.

Auditory distortions: origins and functions.

P. Avan, C. Petit, B. Büki, 2013, Physiological reviews.

Early expression of the KAL gene during embryonic development of the chick

C. Petit, J. Hardelin, R. Legouis, 1994, Anatomy and Embryology.

Conformational switch of harmonin, a submembrane scaffold protein of the hair cell mechanoelectrical transduction machinery

C. Petit, A. El-Amraoui, J. Hardelin, 2017, FEBS letters.

Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes

E. Vizi, P. Avan, C. Petit, 2015, Cell.

Usher Syndrome and Color Vision

J. Sahel, E. Zrenner, C. Petit, 2018, Current eye research.

Migration of luteinizing hormone—releasing hormone (LHRH) neurons in early human embryos

D. Pfaff, C. Petit, J. Hardelin, 1996, The Journal of comparative neurology.

Tissue-specific expression of the rat albumin gene: genetic control of its extinction in microcell hybrids.

C. Petit, M. Weiss, J. Levilliers, 1986, Proceedings of the National Academy of Sciences of the United States of America.

A simple and reliable method for the detection of the 30delG mutation of the CX26 gene.

J. Guesdon, C. Petit, F. Denoyelle, 2000, Molecular and cellular probes.

A Novel Heterozygous Missense Variant (c.667G>T;p.Gly223Cys) in USH1C That Interferes With Cadherin-Related 23 and Harmonin Interaction Causes Autosomal Dominant Nonsyndromic Hearing Loss

Jinhyuk Lee, C. Petit, C. Ki, 2019, Annals of laboratory medicine.

Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential.

K. Willecke, M. Cohen-Salmon, C. Petit, 2003, Human molecular genetics.

Connexin30 deficiency causes instrastrial fluid–blood barrier disruption within the cochlear stria vascularis

P. Meda, M. Cohen-Salmon, C. Petit, 2007, Proceedings of the National Academy of Sciences.

Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus

C. Petit, A. Adato, B. Bonné-Tamir, 2000, European Journal of Human Genetics.

Down-expression of P2RX2, KCNQ5, ERBB3 and SOCS3 through DNA hypermethylation in elderly women with presbycusis

C. Petit, J. Lachuer, S. Masmoudi, 2018, Biomarkers : biochemical indicators of exposure, response, and susceptibility to chemicals.

Genetic heterogeneity of congenital hearing impairment in Algerians from the Ghardaïa province.

C. Petit, J. Hardelin, M. Louha, 2018, International journal of pediatric otorhinolaryngology.

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations

C. Petit, F. Denoyelle, V. Drouin‐Garraud, 2006, European Journal of Human Genetics.

Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity

C. Petit, F. Denoyelle, A. Toutain, 2004, Clinical genetics.

Otoferlin acts as a Ca2+ sensor for vesicle fusion and vesicle pool replenishment at auditory hair cell ribbon synapses

J. Rothman, P. Avan, C. Petit, 2017, eLife.

GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.

C. Petit, F. Denoyelle, V. Drouin‐Garraud, 2005, Archives of otolaryngology--head & neck surgery.

Estimation of Recent and Ancient Inbreeding in a Small Endogamous Tunisian Community Through Genomic Runs of Homozygosity

C. Petit, D. Weil, S. Abdelhak, 2015, Annals of human genetics.

A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family

J. Weissenbach, M. Bitner-Glindzicz, R. Heilig, 1997, Nature Genetics.

Edinburgh Research Explorer Novel gene function revealed by mouse mutagenesis screens for models of age-related disease

S. Cross, S. Greenaway, A. Mallon, 2016 .

Coupling of the mechanotransduction machinery and F-actin polymerization in the cochlear hair bundles.

C. Petit, Vincent Michel, J. B. de Monvel, 2011, Bioarchitecture.

Physical mapping of the human pseudo‐autosomal region; comparison with genetic linkage map.

J. Weissenbach, C. Petit, J. Levilliers, 1988, The EMBO journal.

Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis

Fabienne Wong Jun Tai, P. Avan, C. Petit, 2020, Proceedings of the National Academy of Sciences.

Twister mutant mice are defective for otogelin, a component specific to inner ear acellular membranes

C. Petit, M. Simmler, E. Verpy, 2000, Mammalian Genome.

Short stature in a girl with a terminal Xp deletion distal to DXYS15: localisation of a growth gene(s) in the pseudoautosomal region.

P. Goodfellow, C. Petit, T. Ogata, 1992, Journal of medical genetics.

Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232.

A. Ballabio, T. Meitinger, C. Petit, 1990, American journal of human genetics.

Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome

P. Avan, C. Petit, A. El-Amraoui, 2018, The Journal of clinical investigation.

Mouse models for human hereditary deafness.

C. Petit, S. Safieddine, M. Leibovici, 2008, Current topics in developmental biology.

Substitutions in the Conserved C2C Domain of Otoferlin Cause DFNB9, a Form of Nonsyndromic Autosomal Recessive Deafness

C. Petit, H. Zenner, N. Blin, 2002, Neurobiology of Disease.

A synaptic F-actin network controls otoferlin-dependent exocytosis in auditory inner hair cells

Christian Rosenmund, C. Petit, P. F. Vincent, 2015, eLife.

Five skeletal myosin heavy chain genes are organized as a multigene complex in the human genome.

C. Petit, R. Whalen, N. Soussi-Yanicostas, 1993, Human molecular genetics.

Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness

J. Mullikin, F. Rieux-Laucat, A. Fischer, 2009, Nature Genetics.

The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells

P. Avan, C. Petit, Vincent Michel, 2014, EMBO Molecular Medicine.

Whole Exome Sequencing Identifies New Causative Mutations in Tunisian Families with Non-Syndromic Deafness

C. Petit, D. Weil, J. Hardelin, 2014, PloS one.

Spatiotemporal expression of otogelin in the developing and adult mouse inner ear

M. Cohen-Salmon, C. Petit, A. El-Amraoui, 2001, Hearing Research.

A novel missense mutation of GJA8 causes congenital cataract in a large Mauritanian family

C. Petit, I. Audo, Panfeng Wang, 2018, European journal of ophthalmology.

Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis

C. Petit, M. Grati, S. Masmoudi, 2016, Molecular vision.

High-density physical mapping of a 3-Mb region in Xp22.3 and refined localization of the gene for X-linked recessive chondrodysplasia punctata (CDPX1).

J. Weissenbach, D. Le Paslier, A. Ballabio, 1995, Genomics.

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

Albert David, Jean Weissenbach, José-Alain Sahel, 2011, Orphanet journal of rare diseases.

Clinical and Haplotypic Variability of Slovenian USH2A Patients Homozygous for the c. 11864G>A Nonsense Mutation

C. Petit, D. Glavač, M. Hawlina, 2019, Genes.

Whole Exome Sequencing Identifies Mutations in Usher Syndrome Genes in Profoundly Deaf Tunisian Patients

C. Petit, J. Hardelin, S. Abdelhak, 2015, PloS one.

Deletion of the pseudoautosomal region and lack of sex-chromosome pairing at pachytene in two infertile men carrying an X;Y translocation.

C. Petit, J. Couturier, Y. Rumpler, 1990, Cytogenetics and cell genetics.

Requirement for zebrafish anosmin-1 a in the migration of the posterior lateral line primordium

C. Petit, Cyrielle Dayraud, N. Soussi-Yanicostas, 2011 .

The zebrafish eya1 gene and its expression pattern during embryogenesis

C. Petit, I. Sahly, P. Andermann, 1999, Development Genes and Evolution.

An α-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness , DFNB 21

J. Beckmann, C. Petit, M. Mustapha, 1999 .

KCNQ4, a Novel Potassium Channel Expressed in Sensory Outer Hair Cells, Is Mutated in Dominant Deafness

Thomas Friedrich, Christian Kubisch, Aziz El-Amraoui, 1999, Cell.

Otoferlin, Defective in a Human Deafness Form, Is Essential for Exocytosis at the Auditory Ribbon Synapse

P. Avan, C. Petit, P. Rostaing, 2006, Cell.

High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder

L. Lan, Z. Yin, J. Guan, 2016, Clinical genetics.

Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever!

C. Petit, F. Denoyelle, N. Loundon, 2010, Biochemical and biophysical research communications.

Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy.

Yan Shen, C. Petit, D. Weil, 2010, BMC medical genetics.

Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy

N. Ben-Tal, M. Lathrop, P. Avan, 2006, Nature Genetics.

Molecular basis of the X-chromosome-linked Kallmann's syndrome

C. Petit, 1993, Trends in Endocrinology & Metabolism.

Involvement of the Rab27 binding protein Slac2c/MyRIP in insulin exocytosis.

C. Petit, A. El-Amraoui, M. Iezzi, 2003, Molecular biology of the cell.

Different CaV1.3 Channel Isoforms Control Distinct Components of the Synaptic Vesicle Cycle in Auditory Inner Hair Cells

C. Petit, G. Charpentier, S. Safieddine, 2017, The Journal of Neuroscience.

Specific Aspects of Consanguinity: Some Examples from the Tunisian Population

C. Petit, S. Abdelhak, L. Romdhane, 2014, Human Heredity.

Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness.

C. Petit, S. Chardenoux, J. Hardelin, 2016, American journal of human genetics.

A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family.

C. Petit, J. Hardelin, M. Louha, 2016, International journal of pediatric otorhinolaryngology.

Characterizing subcutaneous cortical auditory evoked potentials in mice

C. Petit, N. Michalski, A. Buck, 2022, Hearing Research.

Eya1 expression in the developing ear and kidney: Towards the understanding of the pathogenesis of branchio‐oto‐renal (BOR) syndrome

C. Petit, A. El-Amraoui, V. Kalatzis, 1998, Developmental dynamics : an official publication of the American Association of Anatomists.

Exocytotic Machineries of Vestibular Type I and Cochlear Ribbon Synapses Display Similar Intrinsic Otoferlin-Dependent Ca2+ Sensitivity But a Different Coupling to Ca2+ Channels

C. Petit, S. Safieddine, P. F. Vincent, 2014, The Journal of Neuroscience.

Otoferlin Is Critical for a Highly Sensitive and Linear Calcium-Dependent Exocytosis at Vestibular Hair Cell Ribbon Synapses

C. Petit, S. Safieddine, D. Dulon, 2009, The Journal of Neuroscience.

A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene.

J. Weissenbach, D. Le Paslier, H. Chaib, 1994, Human molecular genetics.

Control of Exocytosis by Synaptotagmins and Otoferlin in Auditory Hair Cells

R. Schneggenburger, C. Petit, N. Michalski, 2010, The Journal of Neuroscience.

Defective myosin VIIA gene responsible for Usher syndrome type IB

Steve D. M. Brown, K. Steel, A. Munnich, 1995, Nature.

Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments

J. Sahel, S. Picaud, C. Petit, 2018, Scientific Reports.

JCB_201612030 1..16

J. Sahel, S. Picaud, K. Parain, 2017 .

Memorial lecture—hereditary sensory defects: From genes to pathogenesis

C. Petit, 2004, American journal of medical genetics. Part A.

From DFNB2 to Usher syndrome: variable expressivity of the same disease.

C. Petit, S. Masmoudi, H. Ayadi, 2001, American journal of medical genetics.

Pejvakin-mediated pexophagy protects auditory hair cells against noise-induced damage

P. Avan, C. Petit, S. Delmaghani, 2019, Proceedings of the National Academy of Sciences.

A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval.

H. Chaib, C. Petit, G. Lina-Granade, 1994, Human molecular genetics.

Anosmin-1 immunoreactivity during embryogenesis in a primitive eutherian mammal.

D. Pfaff, C. Petit, J. Hardelin, 2003, Brain research. Developmental brain research.

Two cases of Townes-Brocks syndrome with previously undescribed anomalies.

C. Petit, S. Marlin, J. Toublanc, 1998, Clinical dysmorphology.

Myosin-I nomenclature

J. R. Holt, A. Hudspeth, T. Pollard, 2001, The Journal of cell biology.

A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment

A. Pandya, C. Petit, D. Weil, 2005, Journal of Medical Genetics.

Structural Characterization of Whirlin Reveals an Unexpected and Dynamic Supramodule Conformation of Its PDZ Tandem.

M. Nilges, C. Petit, Amel Bahloul, 2017, Structure.

Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: Genotypic and phenotypic analysis

C. Petit, F. Denoyelle, V. Drouin‐Garraud, 2004, American journal of medical genetics. Part A.

Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss.

K. Arnos, A. Pandya, D. Corey, 2003, Human molecular genetics.

The giant spectrin βV couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route.

S. Shorte, N. Sorusch, U. Wolfrum, 2013, Human molecular genetics.

A cluster of sulfatase genes on Xp22.3: Mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy

A. Ballabio, M. Gebbia, C. Petit, 1995, Cell.

Targeted Ablation of Connexin26 in the Inner Ear Epithelial Gap Junction Network Causes Hearing Impairment and Cell Death

K. Willecke, M. Cohen-Salmon, C. Petit, 2002, Current Biology.

Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma

C. Petit, I. Audo, Panfeng Wang, 2019, Molecular vision.

A molecular approach to the pathophysiology of the X chromosome-linked Kallmann's syndrome.

C. Petit, J. Hardelin, Christine Petit, 1995, Bailliere's clinical endocrinology and metabolism.

Abnormal XY interchange between a novel isolated protein kinase gene, PRKY, and its homologue, PRKX, accounts for one third of all (Y+)XX males and (Y-)XY females.

D. Page, C. Petit, D. Weil, 1997, Human molecular genetics.

An abnormal terminal X-Y interchange accounts for most but not all cases of human XX maleness

J. Weissenbach, A. Chapelle, C. Petit, 1987, Cell.

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome

F. Speleman, C. Petit, R. Coimbra, 2003, Nature Genetics.

Xp22.3 deletions in isolated familial Kallmann's syndrome.

C. Petit, J. Hardelin, J. Young, 1993, The Journal of clinical endocrinology and metabolism.

Molecular genetics of hearing loss.

C. Petit, J. Hardelin, J. Levilliers, 2001, Annual review of genetics.

Initial characterization of anosmin-1, a putative extracellular matrix protein synthesized by definite neuronal cell populations in the central nervous system.

C. Petit, J. Hardelin, J. Betton, 1996, Journal of cell science.

Consortin, a trans-Golgi network cargo receptor for the plasma membrane targeting and recycling of connexins.

A. Charollais, P. Meda, M. Cohen-Salmon, 2010, Human molecular genetics.

Loss‐of‐function and residual channel activity of connexin26 mutations associated with non‐syndromic deafness

S. Marlin, R. Bruzzone, C. Petit, 2003, FEBS letters.

Expression of the KAL gene in multiple neuronal sites during chicken development.

C. Petit, M. Leibovici, R. Legouis, 1993, Proceedings of the National Academy of Sciences of the United States of America.

Characterization of otoconin-95, the major protein of murine otoconia, provides insights into the formation of these inner ear biominerals.

C. Petit, M. Leibovici, E. Verpy, 1999, Proceedings of the National Academy of Sciences of the United States of America.

Evidence for a Pseudoautosomal Locus for Schizophrenia

M. Leboyer, A. Malafosse, D. Campion, 1992, British Journal of Psychiatry.

Structure of the X–linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome

M. Cohen-Salmon, C. Petit, S. Blanchard, 1992, Nature Genetics.

A Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co‐occurrence of hearing loss in a child due to mutation in the SLC26A4 gene

C. Petit, S. Abdelhak, L. Romdhane, 2019, International journal of dermatology.

Identification of a locus on chromosome 7q31, DFNB14, responsible for prelingual sensorineural non-syndromic deafness

C. Petit, M. Mustapha, D. Weil, 1998, European Journal of Human Genetics.

PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT.

J. Sahel, C. Petit, A. Roux, 2019, Retina.

Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus

C. Petit, S. Blanchard, J. Popot, 2001, Nature Genetics.

Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling

C. Petit, D. Weil, F. Denoyelle, 1999, The Lancet.

A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

M. Cohen-Salmon, C. Petit, M. Mustapha, 1999, Nature Genetics.

Connexin 26 gene linked to a dominant deafness

R. Bruzzone, C. Petit, D. Weil, 1998, Nature.

Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.

C. Petit, M. Mustapha, D. Weil, 1997, Human molecular genetics.

Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G

P. Avan, C. Petit, Vincent Michel, 2017, Proceedings of the National Academy of Sciences.

Exome Sequencing and Linkage Analysis Identified Tenascin-C (TNC) as a Novel Causative Gene in Nonsyndromic Hearing Loss

Ling Yang, Xin Jin, L. Lan, 2013, PloS one.

From deafness genes to hearing mechanisms: harmony and counterpoint.

C. Petit, 2006, Trends in molecular medicine.

Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome.

P. Bouloux, C. Petit, S. Blanchard, 1993, Human molecular genetics.

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1.

J. Weissenbach, R. Heilig, D. Samson, 1997, Human molecular genetics.

Pseudoautosomal region in schizophrenia: Linkage analysis of seven loci by sib-pair and lod-score methods

J. Mallet, P. Gorwood, D. Campion, 1994, Psychiatry Research.

Anosmin-1, Defective in the X-Linked Form of Kallmann Syndrome, Promotes Axonal Branch Formation from Olfactory Bulb Output Neurons

C. Petit, A. Chédotal, F. Castro, 2002, Cell.

Anosmin-1 underlying the X chromosome-linked Kallmann syndrome is an adhesion molecule that can modulate neurite growth in a cell-type specific manner.

C. Petit, J. Hardelin, G. Rougon, 1998, Journal of cell science.

Cochlear outer hair cells undergo an apical circumference remodeling constrained by the hair bundle shape

C. Petit, D. Weil, Vincent Michel, 2010, Development.

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.

C. Petit, D. Weil, C. Stratakis, 2004, Proceedings of the National Academy of Sciences of the United States of America.

Cadherins in the Auditory Sensory Organ

C. Petit, A. El-Amraoui, 2016 .

The retinal phenotype of Usher syndrome: pathophysiological insights from animal models.

C. Petit, A. El-Amraoui, 2014, Comptes rendus biologies.

Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice

J. Sahel, C. Petit, D. Weil, 2012, The Journal of cell biology.

A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth

U. Wolfrum, C. Petit, D. Weil, 2008, Development.

Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells.

Aziz El-Amraoui, Christine Petit, C. Petit, 2005, Human molecular genetics.

Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle

Pierre Legrain, Spencer Shorte, Jan Reiners, 2002, The EMBO journal.

Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness

A. Pandya, C. Petit, X. Liu, 2002, Human Genetics.

Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2

C. Petit, J. Hardelin, Jacques Young, 2006, PLoS genetics.

Novel gene function revealed by mouse mutagenesis screens for models of age-related disease

Steve D. M. Brown, S. Cross, S. Greenaway, 2016, Nature Communications.

A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21.

J. Weissenbach, A. Munnich, H. Chaib, 1997, Human molecular genetics.

Hair-Bundle Links: Genetics as the Gateway to Function.

C. Petit, G. Richardson, 2019, Cold Spring Harbor perspectives in medicine.

CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival

Steve D. M. Brown, P. Avan, S. Picaud, 2017, EMBO molecular medicine.

Usher syndrome type 1–associated cadherins shape the photoreceptor outer segment

J. Sahel, S. Picaud, K. Parain, 2017, The Journal of cell biology.

Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome

C. Petit, J. Hardelin, Amel Bahloul, 2016, PloS one.

Genetics of auditory mechano-electrical transduction

Christine Petit, C. Petit, N. Michalski, 2014, Pflügers Archiv - European Journal of Physiology.

An unusually powerful mode of low-frequency sound interference due to defective hair bundles of the auditory outer hair cells

P. Avan, C. Petit, A. El-Amraoui, 2014, Proceedings of the National Academy of Sciences.

How the genetics of deafness illuminates auditory physiology.

C. Petit, G. Richardson, J. B. de Monvel, 2011, Annual review of physiology.

Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids

C. Petit, Vincent Michel, J. Hardelin, 2010, Human molecular genetics.

Cadherins as targets for genetic diseases.

C. Petit, A. El-Amraoui, 2010, Cold Spring Harbor perspectives in biology.

Harmonin-b, an actin-binding scaffold protein, is involved in the adaptation of mechanoelectrical transduction by sensory hair cells

J. Tinevez, C. Petit, D. Weil, 2009, Pflügers Archiv - European Journal of Physiology.

LINKING DEAFNESS GENES TO HAIR-BUNDLE DEVELOPMENT AND FUNCTION

C. Petit, G. Richardson, 2009, Nature Neuroscience.

Initial characterization of kinocilin, a protein of the hair cell kinocilium

C. Petit, S. Blanchard, R. Goodyear, 2005, Hearing Research.

Cadherin 23 is a component of the transient lateral links in the developing hair bundles of cochlear sensory cells.

Christine Petit, U. Wolfrum, C. Petit, 2005, Developmental biology.

Differential distribution of harmonin isoforms and their possible role in Usher-1 protein complexes in mammalian photoreceptor cells.

U. Wolfrum, C. Petit, A. El-Amraoui, 2003, Investigative ophthalmology & visual science.

A subtracted cDNA library from the zebrafish (Danio rerio) embryonic inner ear.

J. Weissenbach, C. Petit, D. Weil, 2002, Genome research.

Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22

M. Lathrop, C. Petit, M. Mustapha, 2002, Proceedings of the National Academy of Sciences of the United States of America.

Usher syndrome: from genetics to pathogenesis.

C. Petit, 2001, Annual review of genomics and human genetics.

Identification of three novel mutations in the USH1C gene and detection of thirty‐one polymorphisms used for haplotype analysis

C. Petit, S. Blanchard, A. Gal, 2001, Human mutation.

Targeted disruption of Otog results in deafness and severe imbalance

M. Cohen-Salmon, C. Petit, A. El-Amraoui, 2000, Nature Genetics.

The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region

A. Mansour, H. Chaib, C. Petit, 1998, Human Genetics.

Otogelin: a glycoprotein specific to the acellular membranes of the inner ear.

M. Cohen-Salmon, C. Petit, A. El-Amraoui, 1997, Proceedings of the National Academy of Sciences of the United States of America.

Expression of myosin VIIA during mouse embryogenesis

C. Petit, A. El-Amraoui, J. Dufier, 1997, Anatomy and Embryology.

Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells.

J. Sahel, S. Picaud, C. Petit, 1996, Human molecular genetics.

Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis

C. Petit, J. Mandel, C. Kretz, 1991, Nature.

The pseudoautosomal region of the human sex chromosomes.

J. Weissenbach, C. Petit, G. Vergnaud, 1986, Cold Spring Harbor symposia on quantitative biology.

DFNA49, a novel locus for autosomal dominant non-syndromic hearing loss, maps proximal to DFNA7/DFNM1 region on chromosome 1q21-q23

M. Lathrop, C. Petit, S. Chardenoux, 2003, Journal of medical genetics.

Genes Involved in the Development and Physiology of Both the Peripheral and Central Auditory Systems.

C. Petit, N. Michalski, 2019, Annual review of neuroscience.

A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders

C. Petit, H. Charoute, A. Bakhchane, 2017, Human Genome Variation.

Vezatin, a protein associated to adherens junctions, is required for mouse blastocyst morphogenesis.

C. Petit, A. El-Amraoui, M. Simmler, 2005, Developmental biology.

Characterisation of DRASIC in the mouse inner ear

C. Petit, H. Christopoulos, H. Dahl, 2004, Hearing Research.

Stereocilin-deficient mice reveal the origin of cochlear waveform distortions

P. Avan, C. Petit, D. Weil, 2008, Nature.

Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder

Suhua Chang, Jing Wang, L. Lan, 2015, Journal of Medical Genetics.

Myosin VI is required for the proper maturation and function of inner hair cell ribbon synapses.

Stuart L. Johnson, C. Petit, Amel Bahloul, 2009, Human molecular genetics.

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.

X. Estivill, A. Pandya, C. Petit, 2003, American journal of human genetics.

Gene expression pattern Characterization of the two zebra ® sh orthologues of the KAL-1 gene underlying X chromosome-linked Kallmann syndrome

H. Korn, C. Petit, J. Hardelin, 1999 .

An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21.

J. Beckmann, C. Petit, M. Mustapha, 1999, Human molecular genetics.

Cells of adult brain germinal zone have properties akin to hair cells and can be used to replace inner ear sensory cells after damage

C. Petit, W. Gao, D. Wei, 2008, Proceedings of the National Academy of Sciences.

Vezatin, an integral membrane protein of adherens junctions, is required for the sound resilience of cochlear hair cells

P. Avan, C. Petit, D. Weil, 2009, EMBO molecular medicine.

Highly homologous loci on the X and Y chromosomes are hot–spots for ectopic recombinations leading to XX maleness

A. Poustka, J. Weissenbach, C. Petit, 1994, Nature Genetics.

Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco

C. Petit, H. Charoute, H. Rouba, 2021, Molecular Biology Reports.

Physical mapping of 14 new DNA markers isolated from the human distal Xp region.

A. Ballabio, C. Petit, M. Wapenaar, 1991, Genomics.

The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

C. Petit, D. Weil, S. Blanchard, 1997, Nature Genetics.

Stereocilin connects outer hair cell stereocilia to one another and to the tectorial membrane

C. Petit, D. Weil, R. Goodyear, 2011, The Journal of comparative neurology.

Anosmin‐1 is a regionally restricted component of basement membranes and interstitial matrices during organogenesis: Implications for the developmental anomalies of X chromosome‐linked Kallmann syndrome

C. Verney, C. Petit, J. Hardelin, 1999, Developmental dynamics : an official publication of the American Association of Anatomists.

A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24–25

M. Lathrop, C. Petit, M. Mustapha, 2002, Human Genetics.

A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23–24.2

C. Petit, H. Ayadi, Z. B. Zina, 1999, European Journal of Human Genetics.

Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22.

J. Weissenbach, H. Chaib, C. Petit, 1996, Human molecular genetics.

Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment

C. Petit, S. Abdelhak, O. Messaoud, 2021, PloS one.

Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.

Friedhelm Hildebrandt, Christine Petit, C. Petit, 2007, American journal of human genetics.

Contribution of DFNB1 and DFNB2 loci to neurosensory deafness in affected Tunisian families.

H. Chaib, C. Petit, S. Masmoudi, 1997, Archives de l'Institut Pasteur de Tunis.

Results of cochlear implantation in two children with mutations in the OTOF gene.

C. Petit, F. Denoyelle, N. Loundon, 2006, International journal of pediatric otorhinolaryngology.

Isolation and characterization of the gene responsible for the X chromosome-linked Kallmann syndrome.

M. Cohen-Salmon, C. Petit, R. Legouis, 1994, Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie.

Long-range restriction map of the terminal part of the short arm of the human X chromosome.

J. Weissenbach, C. Petit, J. Levilliers, 1990, Proceedings of the National Academy of Sciences of the United States of America.

Isolation of sequences from Xp22.3 and deletion mapping using sex chromosome rearrangements from human X-Y interchange sex reversals.

J. Weissenbach, C. Petit, F. Rouyer, 1990, Genomics.

OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.

C. Petit, S. Chardenoux, T. Friedman, 2000, American journal of human genetics.

Novel Mutation in AIFM1 Gene Associated with X-Linked Deafness in a Moroccan Family

C. Petit, H. Charoute, A. Barakat, 2021, Human Heredity.

A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-23.

J. Weissenbach, C. Petit, S. Chardenoux, 1996, Human molecular genetics.

A human pseudoautosomal gene encodes the ANT3 ADP/ATP translocase and escapes X-inactivation.

C. Petit, R. Slim, B. Horsthemke, 1993, Genomics.

Further Evidence for the Implication of the MET Gene in Non-Syndromic Autosomal Recessive Deafness

C. Petit, H. Charoute, A. Bakhchane, 2019, Human Heredity.

[Gene therapy for human hearing loss: challenges and promises].

C. Petit, S. Safieddine, Anaïs Meyer, 2013, Medecine sciences : M/S.

Absent chondrodysplasia punctata in a male with an Xp terminal deletion involving the putative region for CDPX1 locus.

P. Goodfellow, C. Petit, T. Ogata, 1993, American journal of medical genetics.

Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin–catenins complex

U. Wolfrum, P. Cossart, C. Petit, 2000, The EMBO journal.

KCNQ4, a K+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway.

C. Petit, A. El-Amraoui, J. Hardelin, 2000, Proceedings of the National Academy of Sciences of the United States of America.

Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth

P. Avan, C. Petit, A. El-Amraoui, 2016, The Journal of cell biology.

Coupling of the mechanotransduction machinery and stereocilia F-actin polymerization in the cochlear hair bundles

C. Petit, Vincent Michel, J. Boutet de Monvel, 2011 .

BOR and BO Syndromes Are Allelic Defects of EYA1

C. Petit, S. Abdelhak, S. Compain, 1997, European journal of human genetics : EJHG.

Mapping of DFNB 12 , a gene for a non-syndromal autosomal recessive deafness , to chromosome 10 q 21 – 22

J. Weissenbach, C. Petit, S. Chardenoux, 1996 .

Cloning of the genes encoding two murine and human cochlear unconventional type I myosins.

C. Fizames, F. Crozet, C. Petit, 1997, Genomics.

Sequence Characterization of a Newly Identified Human α-Tubulin Gene (TUBA2)

H. Chaib, F. Crozet, C. Petit, 1998 .

A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28–29

M. Lathrop, C. Petit, F. Moreno, 2002, Human Genetics.

Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene

C. Petit, M. Mustapha, E. Chouery, 2001, Journal of medical genetics.

[Hereditary sensorineural deafness].

C. Petit, F. Denoyelle, E. Garabédian, 2000, La Revue du praticien.

Townes‐Brocks syndrome: Detection of a SALL1 mutation hot spot and evidence for a position effect in one patient

E. Calzolari, C. Petit, S. Blanchard, 1999, Human mutation.

Re-assigning the DFNB33 locus to chromosome 10p11.23–q21.1

C. Petit, D. Weil, E. Chouery, 2009, European Journal of Human Genetics.

Exclusion of KCNE1 (IsK) as a candidate gene for Jervell and Lange-Nielsen syndrome.

P Coumel, P. Coumel, C. Petit, 1996, Journal of molecular and cellular cardiology.

Expression of the connexin43- and connexin45-encoding genes in the developing and mature mouse inner ear

K. Willecke, M. Cohen-Salmon, C. Petit, 2004, Cell and Tissue Research.

Functional Analysis of a Dominant Mutation of Human Connexin26 Associated with Nonsyndromic Deafness

D. Weil, J. Perea, R. Bruzzone, 2001, Cell communication & adhesion.

Contributions of Age-Related and Audibility-Related Deficits to Aided Consonant Identification in Presbycusis: A Causal-Inference Analysis

C. Lorenzi, C. Petit, L. Varnet, 2021, Frontiers in Aging Neuroscience.

A non–syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q

J. Weissenbach, C. Petit, S. Blanchard, 1994, Nature Genetics.

Characterization of the promoter of the human KAL gene, responsible for the X-chromosome-linked Kallmann syndrome.

M. Cohen-Salmon, C. Petit, F. Tronche, 1995, Gene.

Spectrin βV adaptive mutations and changes in subcellular location correlate with emergence of hair cell electromotility in mammalians

C. Petit, A. El-Amraoui, J. Hardelin, 2017, Proceedings of the National Academy of Sciences.

αII-βV spectrin bridges the plasma membrane and cortical lattice in the lateral wall of the auditory outer hair cells

C. Petit, A. El-Amraoui, S. Safieddine, 2008, Journal of Cell Science.

An interstitial deletion in Xp22.3 in a family with X-linked recessive chondrodysplasia punctata and short stature

J. Weissenbach, J. Melki, C. Petit, 1990, Human Genetics.

Molecular Characterization of the Ankle-Link Complex in Cochlear Hair Cells and Its Role in the Hair Bundle Functioning

Makoto Sato, C. Petit, D. Weil, 2007, The Journal of Neuroscience.

Clarin‐2 is essential for hearing by maintaining stereocilia integrity and function

Steve D. M. Brown, Stuart L. Johnson, S. Wells, 2019, EMBO molecular medicine.

MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes

François Darchen, Aziz El-Amraoui, Christine Petit, 2002, EMBO reports.

Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia.

F. Crozet, C. Petit, D. Weil, 1996, Proceedings of the National Academy of Sciences of the United States of America.

Two highly polymorphic minisatellites from the pseudoautosomal region of the human sex chromosomes.

J. Weissenbach, C. Petit, G. Vergnaud, 1987, The EMBO journal.

A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata

C. Petit, B. Boudailliez, M. Mathieu, 1993 .

A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata.

C. Petit, D. Weil, B. Boudailliez, 1993, Human molecular genetics.

Chromosomal localisation of a pseudoautosomal growth gene(s).

P. Goodfellow, P. Goodfellow, C. Petit, 1992, Journal of medical genetics.

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

J. Sahel, E. Zrenner, C. Petit, 2016, European Journal of Human Genetics.

AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO 7 A OR USH 2 A

P. Melillo, E. Zrenner, C. Petit, 2022 .

Rab27A and its effector MyRIP link secretory granules to F-actin and control their motion towards release sites

Catherine Chapuis, C. Petit, A. El-Amraoui, 2003, The Journal of cell biology.

Normal and abnormal interchanges between the human X and Y chromosomes.

J. Weissenbach, C. Petit, F. Rouyer, 1987, Development.

[Hereditary deafness: molecular genetics].

C. Petit, J. Hardelin, F. Denoyelle, 2004, Medecine sciences : M/S.

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11

C. Petit, D. Weil, T. Yang, 2008, Clinical genetics.

EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss

C. Petit, J. Hardelin, M. Dahmani, 2015, Orphanet Journal of Rare Diseases.

Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.

C. Petit, D. Weil, A. Adato, 1997, American journal of human genetics.

Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB.

K. Steel, A. Munnich, C. Petit, 1997, Human molecular genetics.

Exchange of terminal portions of X- and Y-chromosomal short arms in human XY females.

J. Weissenbach, C. Petit, J. Levilliers, 1989, Proceedings of the National Academy of Sciences of the United States of America.

Otogelin, otogelin-like, and stereocilin form links connecting outer hair cell stereocilia to each other and the tectorial membrane

P. Avan, C. Petit, Vincent Michel, 2019, Proceedings of the National Academy of Sciences.

Phylogenetic analysis of Harmonin homology domains

Olivier Sperandio, Nicolas Wolff, Karen Druart, 2021, BMC Bioinform..

Molecular mechanism of a frequent genetic form of deafness.

C. Petit, Vincent Michel, J. Hardelin, 2003, The New England journal of medicine.

Unconventional myosin VIIa and vezatin, two proteins crucial for Listeria entry into epithelial cells

P. Cossart, C. Petit, A. El-Amraoui, 2004, Journal of Cell Science.

A mouse model for human deafness DFNB22 reveals that hearing impairment is due to a loss of inner hair cell stimulation

I. Russell, C. Petit, R. Goodyear, 2012, Proceedings of the National Academy of Sciences.

Shroom2, a myosin-VIIa- and actin-binding protein, directly interacts with ZO-1 at tight junctions

P. Legrain, C. Petit, A. El-Amraoui, 2007, Journal of Cell Science.

Interaction of protocadherin-15 with the scaffold protein whirlin supports its anchoring of hair-bundle lateral links in cochlear hair cells

C. Petit, Vincent Michel, J. Hardelin, 2020, Scientific Reports.

Auditory cortex interneuron development requires cadherins operating hair-cell mechanoelectrical transduction

C. Métin, P. Avan, C. Petit, 2017, Proceedings of the National Academy of Sciences.

The tip-link molecular complex of the auditory mechano-electrical transduction machinery

C. Petit, Elise Pepermans, 2015, Hearing Research.

Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness.

C. Petit, D. Weil, N. Michalski, 2012, Human molecular genetics.

Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia

P. Avan, C. Petit, D. Weil, 2011, Proceedings of the National Academy of Sciences.

Central auditory deficits associated with genetic forms of peripheral deafness

C. Petit, N. Michalski, 2021, Human Genetics.

A specific promoter of the sensory cells of the inner ear defined by transgenesis.

C. Petit, D. Weil, B. Boëda, 2001, Human molecular genetics.

Conditional knock-out reveals that zygotic vezatin-null mouse embryos die at implantation

C. Petit, S. Cereghini, M. Simmler, 2007, Mechanisms of Development.

PHR1, an integral membrane protein of the inner ear sensory cells, directly interacts with myosin 1c and myosin VIIa

P. Legrain, C. Petit, A. El-Amraoui, 2005, Journal of Cell Science.

Unconventional Myosin VIIA Is a Novel A-kinase-anchoring Protein*

C. Petit, A. El-Amraoui, J. Hardelin, 2000, The Journal of Biological Chemistry.

CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A

P. Melillo, E. Zrenner, C. Petit, 2017, Retina.

Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush

J. Sahel, E. Zrenner, C. Petit, 2021, International journal of molecular sciences.

Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study

J. Sahel, E. Zrenner, C. Petit, 2019, Documenta Ophthalmologica.

Deafness: from genetic architecture to gene therapy

C. Petit, S. Safieddine, C. Bonnet, 2023, Nature Reviews Genetics.

Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing

C. Petit, D. Weil, J. Hardelin, 2015, Molecular genetics & genomic medicine.

Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene

C. Petit, D. Weil, F. Denoyelle, 2004, European Journal of Human Genetics.

Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling.

C. Petit, F. Denoyelle, E. Garabédian, 2001, Archives of otolaryngology--head & neck surgery.

A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family.

C. Petit, G. Lenaers, A. Barakat, 2020, International journal of pediatric otorhinolaryngology.

The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions.

C. Petit, Sonia Talbi, Farid Boudjenah, 2019, International journal of pediatric otorhinolaryngology.

Two novel homozygous missense mutations identified in the BSND gene in Moroccan patients with Bartter's syndrome.

C. Petit, H. Rouba, A. Barakat, 2018, International journal of pediatric otorhinolaryngology.

Determination of the frequency of connexin 26 mutations in inherited sensorineural deafness and carrier rates in the Tunisian population using DGGE

C. Petit, S. Blanchard, S. Masmoudi, 2000 .

Targeted High-Throughput Sequencing Identifies Pathogenic Mutations in KCNQ4 in Two Large Chinese Families with Autosomal Dominant Hearing Loss

X. Yi, Ling Yang, L. Lan, 2014, PloS one.

A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA50, maps to chromosome 7q32 between the DFNB17 and DFNB13 deafness loci

M. Lathrop, C. Petit, F. Moreno, 2004, Journal of Medical Genetics.

Connexins Responsible for Hereditary Deafness — The Tale Unfolds

M. Cohen-Salmon, C. Petit, F. J. D. Castillo, 2005 .

Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment.

C. Petit, N. Michalski, J. Hardelin, 2013, Gene.

Mapping of the otogelin gene (OTGN) to mouse Chromosome 7 and human Chromosome 11p14.3: a candidate for human autosomal recessive nonsyndromic deafness DFNB18

M. Cohen-Salmon, C. Petit, M. Mattei, 1999, Mammalian Genome.

Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations

M. Lathrop, C. Petit, M. Mustapha, 2002, European Journal of Human Genetics.

Viral Transfer of Mini-Otoferlins Partially Restores the Fast Component of Exocytosis and Uncovers Ultrafast Endocytosis in Auditory Hair Cells of Otoferlin Knock-Out Mice

C. Petit, S. Safieddine, R B Sutton, 2019, The Journal of Neuroscience.

Calcium- and Otoferlin-Dependent Exocytosis by Immature Outer Hair Cells

C. Petit, S. Safieddine, I. Roux, 2008, The Journal of Neuroscience.

Hearing Is Normal without Connexin30

P. Avan, M. Cohen-Salmon, C. Petit, 2013, The Journal of Neuroscience.

Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness

C. Petit, C. Bonnet, Selma Mohamed Brahim, 2023, European Archives of Oto-Rhino-Laryngology.

Mechanotransduction is required for establishing and maintaining mature inner hair cells and regulating efferent innervation

Stuart L. Johnson, K. Steel, A. Forge, 2018, Nature Communications.

EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness

C. Petit, J. Hardelin, M. Louha, 2014, Orphanet Journal of Rare Diseases.

Fundus autofluorescence and optical coherence tomography in relation to visual function in Usher syndrome type 1 and 2

C. Petit, D. Glavač, M. Hawlina, 2012, Vision Research.

Cadherin defects in inherited human diseases.

C. Petit, A. El-Amraoui, 2013, Progress in molecular biology and translational science.

Double Hyperautofluorescent Rings in Patients with USH2A-Retinopathy

C. Petit, D. Glavač, M. Hawlina, 2019, Genes.

The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness

C. Petit, F. Denoyelle, H. Blons, 2005, American journal of medical genetics. Part A.

Mutations of GJB2 in three geographic isolates from northern Tunisia: evidence for genetic heterogeneity within isolates

C. Petit, S. Chardenoux, F. Denoyelle, 2000, Clinical genetics.

SYNAPTIC F-ACTIN NETWORK CONTROLS OTOFERLIN-DEPENDENT 1 EXOCYTOSIS IN AUDITORY INNER HAIR CELLS 2 3

C. Petit, P. F. Vincent, D. Dulon, 2015 .

Characterization and chromosomal assignment of a human cDNA encoding a protein related to the murine 102-kDa cadherin-associated protein (alpha-catenin).

J. Claverie, L. Bougueleret, C. Petit, 1993, Genomics.

DFNB40, a recessive form of sensorineural hearing loss, maps to chromosome 22q11.21–12.1

M. Lathrop, C. Petit, D. Weil, 2003, European Journal of Human Genetics.

Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1

M. Lathrop, C. Petit, D. Weil, 2003, European Journal of Human Genetics.

A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene.

E. Haan, J. Weissenbach, D. Paslier, 1994, Human molecular genetics.

Characterization of a translocation-associated deletion defines the candidate region for the gene responsible for branchio-oto-renal syndrome.

C. Petit, S. Abdelhak, S. Compain, 1996, Genomics.

Single-cell transcriptomic profiling of the mouse cochlea: An atlas for targeted therapies

C. Petit, N. Michalski, A. Mallet, 2023, Proceedings of the National Academy of Sciences of the United States of America.

The fundamental and medical impacts of recent progress in research on hereditary hearing loss.

C. Petit, V. Kalatzis, V Kalatzis, 1998, Human molecular genetics.

Mariner is defective in myosin VIIA: a zebrafish model for human hereditary deafness.

R. Geisler, C. Petit, P. Haffter, 2000, Human molecular genetics.

Wrapping up Stereocilia Rootlets

J. B. D. Monvel, C. Petit, 2010, Cell.

Refined mapping of the autosomal recessive non‐syndromic deafness locus DFNB13 using eight novel microsatellite markers

C. Petit, Ahmed Rebai, A. Tlili, 2004, Clinical genetics.

Determination of the frequency of connexin26 mutations in inherited sensorineural deafness and carrier rates in the Tunisian population using DGGE

C. Petit, S. Blanchard, S. Masmoudi, 2000, Journal of Medical Genetics.

A novel mutation in SLITRK6 causes deafness and myopia in a Moroccan family.

C. Petit, H. Charoute, H. Rouba, 2018, Gene.

Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor

C. Petit, D. Weil, F. Denoyelle, 2002, European Journal of Human Genetics.

Cadherin defects in inherited human diseases.

C. Petit, A. El-Amraoui, 2013, Progress in molecular biology and translational science.

Cadherins as targets for genetic diseases.

C. Petit, A. El-Amraoui, 2010, Cold Spring Harbor perspectives in biology.

Afferent Calyx Terminals Voltage-Dependent Currents in Isolated Vestibular

C. Petit, E. Glowatzki, Soroush G. Sadeghi, 2015 .

Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco

C. Petit, H. Charoute, H. Rouba, 2022, Molecular Biology Reports.

A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family.

C. Petit, J. Hardelin, M. Louha, 2016, International journal of pediatric otorhinolaryngology.

Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene

C. Petit, J. Caminal, C. Bonnet, 2019, Eye.

Anosmin-1 underlying the X chromosome-linked Kallmann syndrome is an adhesion molecule that can modulate neurite growth in a cell-type specific manner.

C. Petit, J. Hardelin, G. Rougon, 1998, Journal of Cell Science.

A particular case of deafness-oligodontia syndrome.

C. Petit, F. Denoyelle, N. Garabedian, 1998, International journal of pediatric otorhinolaryngology.

Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G

P. Avan, C. Petit, Vincent Michel, 2017, Proceedings of the National Academy of Sciences.

[The sea anemone Nematostella vectensis, an emerging model for biomedical research: Mechano-sensitivity, extreme regeneration and longevity].

C. Petit, Vincent Michel, É. Röttinger, 2021, Medecine sciences : M/S.

Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort

J. Sahel, C. Petit, I. Audo, 2022, Investigative ophthalmology & visual science.

Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene

C. Petit, M. Mustapha, E. Chouery, 2001, Journal of medical genetics.