Christine Petit

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Christine Petit is affiliated with the following schools: University of Sussex, University of Hamburg, Sorbonne University

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Christine Petit

Biology

#1075

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#1849

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Genetics

#253

World Rank

#303

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Biology

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According to Wikipedia, Christine Petit is a French geneticist. She holds professorships at the Collège de France and the Pasteur Institute. Biography Petit was born in Laignes in 1948. She initially studied at the Paris teaching hospital, Pitié-Salpêtrière Hospital and at the Pasteur Institute. She completed two pieces of post-doctoral research at the Centre for Molecular Research in Gif-sur-Yvette and another in Basel.

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Christine Petit's Published Works

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Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Defective myosin VIIA gene responsible for Usher syndrome type IB (1995) (1084)
A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome (1997) (869)
KCNQ4, a Novel Potassium Channel Expressed in Sensory Outer Hair Cells, Is Mutated in Dominant Deafness (1999) (829)
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome (2003) (759)
The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules (1991) (663)
Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. (1997) (631)
A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family (1997) (615)
Otoferlin, Defective in a Human Deafness Form, Is Essential for Exocytosis at the Auditory Ribbon Synapse (2006) (557)
A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness (1999) (508)
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C (2000) (460)
Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle (2002) (448)
Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2 (2006) (439)
Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling (1999) (431)
Targeted Ablation of Connexin26 in the Inner Ear Epithelial Gap Junction Network Causes Hearing Impairment and Cell Death (2002) (428)
The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene (1997) (417)
KCNQ4, a K+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway. (2000) (394)
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. (2004) (377)
Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential. (2003) (364)
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31 (2003) (325)
Ciliary proteins link basal body polarization to planar cell polarity regulation (2008) (320)
Molecular genetics of hearing loss. (2001) (319)
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 (2005) (314)
Connexin 26 gene linked to a dominant deafness (1998) (300)
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. (2003) (299)
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. (2003) (296)
Usher syndrome: from genetics to pathogenesis. (2001) (283)
A cluster of sulfatase genes on Xp22.3: Mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy (1995) (278)
A non–syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q (1994) (277)
Genes responsible for human hereditary deafness: symphony of a thousand (1996) (267)
Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy (2006) (261)
Interactions in the network of Usher syndrome type 1 proteins. (2005) (246)
Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin–catenins complex (2000) (236)
Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis (1991) (210)
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations (2006) (210)
A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth (2008) (208)
Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome. (1993) (208)
Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. (1997) (206)
How the genetics of deafness illuminates auditory physiology. (2011) (198)
Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells (2005) (197)
Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness (2009) (196)
Anosmin-1, Defective in the X-Linked Form of Kallmann Syndrome, Promotes Axonal Branch Formation from Olfactory Bulb Output Neurons (2002) (194)
Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss. (2003) (192)
Molecular Characterization of the Ankle-Link Complex in Cochlear Hair Cells and Its Role in the Hair Bundle Functioning (2007) (186)
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. (2005) (186)
MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes (2002) (185)
Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly. (2005) (182)
An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. (1999) (180)
The zebrafish eya1 gene and its expression pattern during embryogenesis (1999) (177)
Cadherin 23 is a component of the transient lateral links in the developing hair bundles of cochlear sensory cells. (2005) (177)
OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9. (2000) (176)
Rab27A and its effector MyRIP link secretory granules to F-actin and control their motion towards release sites (2003) (172)
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. (2007) (171)
Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia. (1996) (171)
Loss‐of‐function and residual channel activity of connexin26 mutations associated with non‐syndromic deafness (2003) (160)
Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells. (1996) (158)
The auditory hair cell ribbon synapse: from assembly to function. (2012) (158)
Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus (2001) (157)
Connexin30 deficiency causes instrastrial fluid–blood barrier disruption within the cochlear stria vascularis (2007) (156)
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 (2002) (155)
Involvement of the Rab27 binding protein Slac2c/MyRIP in insulin exocytosis. (2003) (155)
Neurogenetics (2013) (151)
Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice (2012) (150)
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 (1999) (146)
Otogelin: a glycoprotein specific to the acellular membranes of the inner ear. (1997) (145)
Migration of luteinizing hormone—releasing hormone (LHRH) neurons in early human embryos (1996) (145)
Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling. (2001) (142)
A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene. (1994) (139)
Targeted disruption of Otog results in deafness and severe imbalance (2000) (136)
Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes (2015) (132)
BOR and BO Syndromes Are Allelic Defects of EYA1 (1997) (125)
Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness (2002) (125)
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. (1997) (124)
A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21. (1997) (124)
Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins. (1997) (122)
Initial characterization of anosmin-1, a putative extracellular matrix protein synthesized by definite neuronal cell populations in the central nervous system. (1996) (122)
Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia (2011) (122)
Stereocilin-deficient mice reveal the origin of cochlear waveform distortions (2008) (119)
Physical mapping of the human pseudo‐autosomal region; comparison with genetic linkage map. (1988) (117)
Structure of the X–linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome (1992) (116)
Characterization of otoconin-95, the major protein of murine otoconia, provides insights into the formation of these inner ear biominerals. (1999) (116)
Otoferlin Is Critical for a Highly Sensitive and Linear Calcium-Dependent Exocytosis at Vestibular Hair Cell Ribbon Synapses (2009) (115)
Dual AAV-mediated gene therapy restores hearing in a DFNB9 mouse model (2019) (113)
Anosmin-1 underlying the X chromosome-linked Kallmann syndrome is an adhesion molecule that can modulate neurite growth in a cell-type specific manner. (1998) (111)
Results of cochlear implantation in two children with mutations in the OTOF gene. (2006) (109)
Control of Exocytosis by Synaptotagmins and Otoferlin in Auditory Hair Cells (2010) (108)
Expression of myosin VIIA during mouse embryogenesis (1997) (107)
Eya1 expression in the developing ear and kidney: Towards the understanding of the pathogenesis of branchio‐oto‐renal (BOR) syndrome (1998) (105)
Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB. (1997) (105)
An abnormal terminal X-Y interchange accounts for most but not all cases of human XX maleness (1987) (105)
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis (2011) (104)
Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids (2010) (101)
GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients. (2005) (100)
Xp22.3 deletions in isolated familial Kallmann's syndrome. (1993) (100)
A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval. (1994) (96)
Stereocilin connects outer hair cell stereocilia to one another and to the tectorial membrane (2011) (95)
Probing the Functional Equivalence of Otoferlin and Synaptotagmin 1 in Exocytosis (2011) (95)
LINKING DEAFNESS GENES TO HAIR-BUNDLE DEVELOPMENT AND FUNCTION (2009) (93)
Myosin VI is required for the proper maturation and function of inner hair cell ribbon synapses. (2009) (92)
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity (2004) (91)
Differential distribution of harmonin isoforms and their possible role in Usher-1 protein complexes in mammalian photoreceptor cells. (2003) (90)
Harmonin-b, an actin-binding scaffold protein, is involved in the adaptation of mechanoelectrical transduction by sensory hair cells (2009) (88)
From deafness genes to hearing mechanisms: harmony and counterpoint. (2006) (85)
Unconventional myosin VIIa and vezatin, two proteins crucial for Listeria entry into epithelial cells (2004) (84)
Calcium- and Otoferlin-Dependent Exocytosis by Immature Outer Hair Cells (2008) (83)
A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23–24.2 (1999) (83)
A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-23. (1996) (83)
Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22. (1996) (82)
Novel gene function revealed by mouse mutagenesis screens for models of age-related disease (2016) (81)
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 (2001) (80)
Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome (2018) (79)
Otoferlin acts as a Ca2+ sensor for vesicle fusion and vesicle pool replenishment at auditory hair cell ribbon synapses (2017) (79)
Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G (2017) (78)
Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip (2007) (77)
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients (2016) (77)
Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder (2015) (76)
Tissue-specific expression of the rat albumin gene: genetic control of its extinction in microcell hybrids. (1986) (73)
Auditory distortions: origins and functions. (2013) (73)
Shroom2, a myosin-VIIa- and actin-binding protein, directly interacts with ZO-1 at tight junctions (2007) (71)
Cloning of the genes encoding two murine and human cochlear unconventional type I myosins. (1997) (70)
Myosin-I nomenclature (2001) (70)
Townes‐Brocks syndrome: Detection of a SALL1 mutation hot spot and evidence for a position effect in one patient (1999) (69)
A specific promoter of the sensory cells of the inner ear defined by transgenesis. (2001) (69)
Hearing Is Normal without Connexin30 (2013) (68)
Expression of the KAL gene in multiple neuronal sites during chicken development. (1993) (68)
Exchange of terminal portions of X- and Y-chromosomal short arms in human XY females. (1989) (67)
Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232. (1990) (67)
Unconventional Myosin VIIA Is a Novel A-kinase-anchoring Protein* (2000) (66)
Characterisation of DRASIC in the mouse inner ear (2004) (65)
Expression of the connexin43- and connexin45-encoding genes in the developing and mature mouse inner ear (2004) (65)
A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24–25 (2002) (64)
Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever! (2010) (63)
Deletion of the pseudoautosomal region and lack of sex-chromosome pairing at pachytene in two infertile men carrying an X;Y translocation. (1990) (63)
The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells (2014) (62)
αII-βV spectrin bridges the plasma membrane and cortical lattice in the lateral wall of the auditory outer hair cells (2008) (62)
Mouse models for human hereditary deafness. (2008) (62)
Short stature in a girl with a terminal Xp deletion distal to DXYS15: localisation of a growth gene(s) in the pseudoautosomal region. (1992) (61)
EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness (2014) (60)
Evidence for a Pseudoautosomal Locus for Schizophrenia (1992) (60)
Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness. (2012) (60)
Substitutions in the Conserved C2C Domain of Otoferlin Cause DFNB9, a Form of Nonsyndromic Autosomal Recessive Deafness (2002) (59)
Long-range restriction map of the terminal part of the short arm of the human X chromosome. (1990) (58)
Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor (2002) (57)
Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene (2004) (57)
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 (2000) (56)
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11 (2008) (56)
A mouse model for human deafness DFNB22 reveals that hearing impairment is due to a loss of inner hair cell stimulation (2012) (55)
Two highly polymorphic minisatellites from the pseudoautosomal region of the human sex chromosomes. (1987) (55)
Pejvakin-mediated pexophagy protects auditory hair cells against noise-induced damage (2019) (53)
CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival (2017) (52)
Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: Genotypic and phenotypic analysis (2004) (52)
Exome Sequencing and Linkage Analysis Identified Tenascin-C (TNC) as a Novel Causative Gene in Nonsyndromic Hearing Loss (2013) (52)
A human pseudoautosomal gene encodes the ANT3 ADP/ATP translocase and escapes X-inactivation. (1993) (52)
Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy (2010) (51)
Highly homologous loci on the X and Y chromosomes are hot–spots for ectopic recombinations leading to XX maleness (1994) (51)
The pseudoautosomal region of the human sex chromosomes. (1986) (50)
Usher syndrome type 1–associated cadherins shape the photoreceptor outer segment (2017) (49)
From DFNB2 to Usher syndrome: variable expressivity of the same disease. (2001) (49)
Characterization of the two zebrafish orthologues of the KAL-1 gene underlying X chromosome-linked Kallmann syndrome (2000) (49)
Exocytotic Machineries of Vestibular Type I and Cochlear Ribbon Synapses Display Similar Intrinsic Otoferlin-Dependent Ca2+ Sensitivity But a Different Coupling to Ca2+ Channels (2014) (48)
Chromosomal localisation of a pseudoautosomal growth gene(s). (1992) (48)
The giant spectrin βV couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route. (2013) (48)
Spatiotemporal expression of otogelin in the developing and adult mouse inner ear (2001) (48)
The retinal phenotype of Usher syndrome: pathophysiological insights from animal models. (2014) (47)
Cadherins as targets for genetic diseases. (2010) (47)
Fundus autofluorescence and optical coherence tomography in relation to visual function in Usher syndrome type 1 and 2 (2012) (46)
Twister mutant mice are defective for otogelin, a component specific to inner ear acellular membranes (2000) (45)
Identification of three novel mutations in the USH1C gene and detection of thirty‐one polymorphisms used for haplotype analysis (2001) (45)
A sensorineural progressive autosomal recessive form of isolated deafness, DFNB13, maps to chromosome 7q34-q36 (1998) (45)
Mechanotransduction is required for establishing and maintaining mature inner hair cells and regulating efferent innervation (2018) (45)
Hair-Bundle Links: Genetics as the Gateway to Function. (2019) (44)
DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34 (2002) (44)
Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing (2015) (43)
Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth (2016) (43)
PHR1, an integral membrane protein of the inner ear sensory cells, directly interacts with myosin 1c and myosin VIIa (2005) (42)
Characterization of the chicken and quail homologues of the human gene responsible for the X-linked Kallmann syndrome. (1993) (42)
Cochlear outer hair cells undergo an apical circumference remodeling constrained by the hair bundle shape (2010) (40)
Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations (2002) (40)
Vezatin, an integral membrane protein of adherens junctions, is required for the sound resilience of cochlear hair cells (2009) (39)
Consortin, a trans-Golgi network cargo receptor for the plasma membrane targeting and recycling of connexins. (2010) (39)
Exclusion of KCNE1 (IsK) as a candidate gene for Jervell and Lange-Nielsen syndrome. (1996) (39)
The tip-link molecular complex of the auditory mechano-electrical transduction machinery (2015) (37)
Cells of adult brain germinal zone have properties akin to hair cells and can be used to replace inner ear sensory cells after damage (2008) (37)
Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness. (2016) (35)
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 (1993) (34)
Fdp, a New Fibrocyte-derived Protein Related toMIA/CD-RAP, Has an in VitroEffect on the Early Differentiation of the Inner Ear Mesenchyme* (2000) (34)
Auditory cortex interneuron development requires cadherins operating hair-cell mechanoelectrical transduction (2017) (32)
Vezatin, a protein associated to adherens junctions, is required for mouse blastocyst morphogenesis. (2005) (32)
Characterization and chromosomal assignment of a human cDNA encoding a protein related to the murine 102-kDa cadherin-associated protein (alpha-catenin). (1993) (31)
Coupling of the mechanotransduction machinery and stereocilia F-actin polymerization in the cochlear hair bundles (2011) (30)
Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments (2018) (29)
Anosmin-1 immunoreactivity during embryogenesis in a primitive eutherian mammal. (2003) (29)
Identification of a locus on chromosome 7q31, DFNB14, responsible for prelingual sensorineural non-syndromic deafness (1998) (29)
Determination of the frequency of connexin26 mutations in inherited sensorineural deafness and carrier rates in the Tunisian population using DGGE (2000) (29)
Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1 (2003) (29)
Down-expression of P2RX2, KCNQ5, ERBB3 and SOCS3 through DNA hypermethylation in elderly women with presbycusis (2018) (28)
An α-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness , DFNB 21 (1999) (28)
CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A (2017) (27)
Genetics of auditory mechano-electrical transduction (2014) (27)
Prevalence and molecular analysis of two hot spots for ectopic recombination leading to XX maleness. (1995) (26)
A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA50, maps to chromosome 7q32 between the DFNB17 and DFNB13 deafness loci (2004) (26)
The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness (2005) (26)
A subtracted cDNA library from the zebrafish (Danio rerio) embryonic inner ear. (2002) (26)
A dinucleotide repeat polymorphism at the Kallmann locus (Xp22.3). (1991) (26)
Cadherin defects in inherited human diseases. (2013) (25)
Five skeletal myosin heavy chain genes are organized as a multigene complex in the human genome. (1993) (25)
Different CaV1.3 Channel Isoforms Control Distinct Components of the Synaptic Vesicle Cycle in Auditory Inner Hair Cells (2017) (25)
Functional Analysis of a Dominant Mutation of Human Connexin26 Associated with Nonsyndromic Deafness (2001) (25)
An unusually powerful mode of low-frequency sound interference due to defective hair bundles of the auditory outer hair cells (2014) (24)
Mutations of GJB2 in three geographic isolates from northern Tunisia: evidence for genetic heterogeneity within isolates (2000) (23)
Targeted High-Throughput Sequencing Identifies Pathogenic Mutations in KCNQ4 in Two Large Chinese Families with Autosomal Dominant Hearing Loss (2014) (23)
Coupling of the mechanotransduction machinery and F-actin polymerization in the cochlear hair bundles. (2011) (23)
Connexins Responsible for Hereditary Deafness — The Tale Unfolds (2005) (23)
Otogelin, otogelin-like, and stereocilin form links connecting outer hair cell stereocilia to each other and the tectorial membrane (2019) (22)
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 (2019) (22)
Spectrin βV adaptive mutations and changes in subcellular location correlate with emergence of hair cell electromotility in mammalians (2017) (22)
Genes Involved in the Development and Physiology of Both the Peripheral and Central Auditory Systems. (2019) (22)
Whole Exome Sequencing Identifies New Causative Mutations in Tunisian Families with Non-Syndromic Deafness (2014) (21)
Isolation of sequences from Xp22.3 and deletion mapping using sex chromosome rearrangements from human X-Y interchange sex reversals. (1990) (21)
Essential requirement for zebrafish anosmin-1a in the migration of the posterior lateral line primordium. (2008) (21)
Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment. (2013) (21)
A synaptic F-actin network controls otoferlin-dependent exocytosis in auditory inner hair cells (2015) (21)
Structural Characterization of Whirlin Reveals an Unexpected and Dynamic Supramodule Conformation of Its PDZ Tandem. (2017) (20)
Isolation and characterization of the gene responsible for the X chromosome-linked Kallmann syndrome. (1994) (20)
A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28–29 (2002) (20)
Auditory hair cell centrioles undergo confined Brownian motion throughout the developmental migration of the kinocilium. (2013) (20)
EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss (2015) (20)
Molecular mechanism of a frequent genetic form of deafness. (2003) (19)
Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis (2020) (19)
DFNA49, a novel locus for autosomal dominant non-syndromic hearing loss, maps proximal to DFNA7/DFNM1 region on chromosome 1q21-q23 (2003) (18)
Initial characterization of kinocilin, a protein of the hair cell kinocilium (2005) (18)
Genetic control of the immune response to the terpolymer L‐glutamic acid 60‐L‐alanine 30‐L‐tyrosine10(GAT). III. Restricted heterogeneity of the anti‐GAT response from BALB/c responder mice (1979) (18)
Normal and abnormal interchanges between the human X and Y chromosomes. (1987) (18)
A molecular approach to the pathophysiology of the X chromosome-linked Kallmann's syndrome. (1995) (18)
Mapping of the otogelin gene (OTGN) to mouse Chromosome 7 and human Chromosome 11p14.3: a candidate for human autosomal recessive nonsyndromic deafness DFNB18 (1999) (18)
High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder (2016) (17)
Pseudoautosomal region in schizophrenia: Linkage analysis of seven loci by sib-pair and lod-score methods (1994) (17)
Clarin‐2 is essential for hearing by maintaining stereocilia integrity and function (2019) (17)
Whole Exome Sequencing Identifies Mutations in Usher Syndrome Genes in Profoundly Deaf Tunisian Patients (2015) (17)
The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region (1998) (17)
Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis (2016) (17)
Physical mapping of 14 new DNA markers isolated from the human distal Xp region. (1991) (17)
Specific Aspects of Consanguinity: Some Examples from the Tunisian Population (2014) (16)
Genetic control of the immune response to the L‐Glu60‐L‐Ala30‐L‐Tyr10 (GAT) terpolymer V. Three types of idiotypic specificities on BALB/c anti‐GAT antibodies (1981) (16)
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. (1993) (16)
Estimation of Recent and Ancient Inbreeding in a Small Endogamous Tunisian Community Through Genomic Runs of Homozygosity (2015) (15)
DFNB40, a recessive form of sensorineural hearing loss, maps to chromosome 22q11.21–12.1 (2003) (15)
Conditional knock-out reveals that zygotic vezatin-null mouse embryos die at implantation (2007) (15)
A simple and reliable method for the detection of the 30delG mutation of the CX26 gene. (2000) (14)
Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome (2016) (14)
SponGee: A Genetic Tool for Subcellular and Cell-Specific cGMP Manipulation. (2019) (13)
Two cases of Townes-Brocks syndrome with previously undescribed anomalies. (1998) (13)
Genetic heterogeneity of congenital hearing impairment in Algerians from the Ghardaïa province. (2018) (13)
An interstitial deletion in Xp22.3 in a family with X-linked recessive chondrodysplasia punctata and short stature (1990) (12)
Clinical and Haplotypic Variability of Slovenian USH2A Patients Homozygous for the c. 11864G>A Nonsense Mutation (2019) (12)
PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT. (2019) (12)
Physical map of the region surrounding the OTOFERLIN locus on chromosome 2p22-p23. (2000) (11)
[Hereditary deafness: molecular genetics]. (2004) (11)
Audition: Hearing and Deafness (2013) (10)
AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO 7 A OR USH 2 A (10)
Interaction of protocadherin-15 with the scaffold protein whirlin supports its anchoring of hair-bundle lateral links in cochlear hair cells (2020) (10)
T cell dependence of cells synthesizing immunoglobulin without detectable antibody function induced after an antigenic stimulation (1977) (10)
A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family. (2016) (10)
Development of immuneeoglobulin and antibody-forming cells in different stages of the immun response. (1976) (9)
Direct detection of idiotypic determinants on blotted monoclonal antibodies. (1982) (9)
Characterization of the promoter of the human KAL gene, responsible for the X-chromosome-linked Kallmann syndrome. (1995) (9)
Wrapping up Stereocilia Rootlets (2010) (8)
The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions. (2019) (8)
[Hereditary sensorineural deafness]. (2000) (8)
SpiCee: A Genetic Tool for Subcellular and Cell-Specific Calcium Manipulation (2019) (8)
Absent chondrodysplasia punctata in a male with an Xp terminal deletion involving the putative region for CDPX1 locus. (1993) (8)
A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders (2017) (8)
Double Hyperautofluorescent Rings in Patients with USH2A-Retinopathy (2019) (8)
Conformational switch of harmonin, a submembrane scaffold protein of the hair cell mechanoelectrical transduction machinery (2017) (8)
Refined mapping of the autosomal recessive non‐syndromic deafness locus DFNB13 using eight novel microsatellite markers (2004) (8)
Molecular basis of the X-chromosome-linked Kallmann's syndrome (1993) (7)
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). (1995) (7)
Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study (2019) (7)
Development of immunoglobulin and antibody-synthesizing cells after immunization with different doses of antigen. (1976) (7)
Early expression of the KAL gene during embryonic development of the chick (1994) (7)
Novel Mutation in AIFM1 Gene Associated with X-Linked Deafness in a Moroccan Family (2021) (6)
Re-assigning the DFNB33 locus to chromosome 10p11.23–q21.1 (2009) (6)
Sequence Characterization of a Newly Identified Human α-Tubulin Gene (TUBA2) (1998) (6)
Phylogenetic analysis of Harmonin homology domains (2021) (6)
A novel missense mutation of GJA8 causes congenital cataract in a large Mauritanian family (2018) (6)
Use of immunoblotting to detect idiotypic determinants on monoclonal antibodies. (1989) (5)
Mapping of DFNB 12 , a gene for a non-syndromal autosomal recessive deafness , to chromosome 10 q 21 – 22 (1996) (5)
SpiCee: A Genetic Tool for Subcellular and Cell-Specific Calcium Manipulation. (2020) (5)
Contribution of DFNB1 and DFNB2 loci to neurosensory deafness in affected Tunisian families. (1997) (5)
Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma (2019) (5)
Two novel homozygous missense mutations identified in the BSND gene in Moroccan patients with Bartter's syndrome. (2018) (4)
A comparative biochemical study of cells synthesizing immunoglobulins without detectable antibody function and of antibody-synthesizing cells. (1977) (4)
A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family. (2020) (4)
Further Evidence for the Implication of the MET Gene in Non-Syndromic Autosomal Recessive Deafness (2019) (4)
Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco (2021) (4)
[Stem cell therapy in the inner ear: recent achievements and prospects]. (2010) (4)
Memorial lecture—hereditary sensory defects: From genes to pathogenesis (2004) (4)
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 (2019) (4)
Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene (2019) (3)
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 (2019) (3)
A particular case of deafness-oligodontia syndrome. (1998) (3)
Cadherins in the Auditory Sensory Organ (2016) (3)
ATP6V1B1 recurrent mutations in Algerian deaf patients associated with renal tubular acidosis. (2019) (3)
Spontaneous Mouse Behavior in Presence of Dissonance and Acoustic Roughness (2020) (3)
Central auditory deficits associated with genetic forms of peripheral deafness (2021) (3)
Sequence characterization of a newly identified human alpha-tubulin gene (TUBA2). (1998) (3)
Analysis of a major rat idiotype associated with Anti-GAT antibodies. (1982) (3)
Comparison of the developmental kinetics of antibody- and immunoglobulin-forming cells in normal and tolerant mice. (1978) (3)
Trans‐stimulation of T Cells: Characterization of Targets and Involvement in Loss of Alloreactivity (1986) (2)
[The sea anemone Nematostella vectensis, an emerging model for biomedical research: Mechano-sensitivity, extreme regeneration and longevity]. (2021) (2)
Usher Syndrome and Color Vision (2018) (2)
Human Adenylate Kinase 2 Deficiency Causes a Profound Haematopoietic Defect Associated with Sensorineural Deafness (2008) (2)
Otoferlin, defective in DFNB9 human deafness, is a synaptic protein of sensory hair cells involved in exocytosis (2006) (2)
A novel mutation in SLITRK6 causes deafness and myopia in a Moroccan family. (2018) (2)
[Usher syndrome type I and the differentiation of inner ear sensory cells' hair bundles]. (2005) (2)
Cloning and characterization of the mouse collapsin response mediator protein-1, crmpl (1997) (2)
Contributions of Age-Related and Audibility-Related Deficits to Aided Consonant Identification in Presbycusis: A Causal-Inference Analysis (2021) (2)
[Gene therapy for human hearing loss: challenges and promises]. (2013) (2)
Cloning and characterization of the mouse collapsin response mediator protein-1, Crmp1. (1997) (2)
DNABarcodeCompatibility: an R-package for optimizing DNA-barcode combinations in multiplex sequencing experiments (2018) (2)
Kallmann syndrome. (2000) (2)
DFNB9 and DFNB12. (2000) (1)
Long-range restriction mapoftheterminal partoftheshort armof thehumanX chromosome (1990) (1)
Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment (2021) (1)
Two Photon Imaging of Calcium Signalling at the Mouse Inner Hair Cell Ribbon Synapse (2010) (1)
Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush (2021) (1)
Author response: A synaptic F-actin network controls otoferlin-dependent exocytosis in auditory inner hair cells (2015) (1)
[The outer hair cell of the mammalian cochlea: an outstanding amplifier]. (2009) (0)
PL.06.01 Deafness: on the road from genes to therapy (2013) (0)
In Vivo Phenotyping Of A Usher 1 Mouse Model (2012) (0)
[Contribution of human genetics to the understanding of sensory systems]. (2000) (0)
WITHDRAWN: Top connectors of the hair bundle are required for waveform distortion and suppression masking but not cochlear amplification. (2009) (0)
Noise-induced hearing loss due to pejvakin defect: from pathogenesis to treatment (2016) (0)
A novel mode of off-frequency hearing as a result of defective outer hair cells hair bundles unveiled by Nherf1-/- mice (2014) (0)
Contents Vol. 77, 2014 (2014) (0)
Prof. Christine Petit is Bringing the Deaf out of the World of Silence. Interview published in Le Point on 1 April 2014 (2015) (0)
Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort (2022) (0)
Molecular approach to the pathogenesis of renal anomalies in Kallmann's syndrome and in the branchio-oto-renal syndrome. (1998) (0)
Eleventh International Chromosome Conference (2004) (0)
Characterization of a Translocation-Associated Deletion Defines the Candidate Region for the Gene Responsible for Branchio-Oto-Renal Syndrome: Volume34,Number 3 (1996), pages 422–425 (1996) (0)
Primary response to GAT in F344 rats: anti-GAT antibodies, nonspecific immunoglobulins, and expression of the GAT-13 idiotype. (1983) (0)
[Antibody producing cells and immunoglobulin synthesizing cells lacking antibody function]. (1977) (0)
Stereocilin in top-connectors is a key element ensuring waveform distortion and suppressive masking, necessary for speech intelligibility and hearing in noise. Research’s Echo (2009) (0)
Clinical phenotype and progression of Usher syndrome related to mutations in MYO7A or USH2A (2016) (0)
CochleaApical and Basal Turns of the Mammalian Mechanical Responses to Two-Tone Distortion Products (2015) (0)
Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness. (2023) (0)
Diversity of the genes involved in Algerian families with hearing loss identified by whole exome sequencing (2018) (0)
Mutation within the connexin 26 gene and relation to prelingualer syndrome loose deafness and detection methods (1998) (0)
Mechanotransduction is required for establishing and maintaining mature inner hair cells and regulating efferent innervation (2018) (0)
L’anémone de mer Nematostella vectensis (2021) (0)
Corrigendum (2007) (0)
Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments (2018) (0)
The SNARE protein SNAP-25 is required for normal exocytosis at auditory hair cell ribbon synapses (2022) (0)
Afferent Calyx Terminals Voltage-Dependent Currents in Isolated Vestibular (2015) (0)
In Vivo Gene Transfer into Neonatal Mice Cochlea Using Adeno- Associated Viral Vectors (2013) (0)
Characterizing subcutaneous cortical auditory evoked potentials in mice (2022) (0)
SYNAPTIC F-ACTIN NETWORK CONTROLS OTOFERLIN-DEPENDENT 1 EXOCYTOSIS IN AUDITORY INNER HAIR CELLS 2 3 (2015) (0)
Hereditary hearing loss and its syndromes: edited by R.J. Gorlin, H.V. Toriello and M.M. Cohen, Jr Oxford University Press, 1995. £150.00 hbk (457 pages) ISBN 0 19 506552 2 (1996) (0)
Tomodensitometría, angiografía y cáncer renal del adulto (1984) (0)
WITHDRAWN: Top connectors of the hair bundle are required for waveform distortion and suppression masking but not cochlear amplification. (2009) (0)
Human hereditary deafness: from genes to cochlear pathogenesis (2003) (0)
Human myosin VIIA responsible for the Usher 1 B syndrome : A predicted membrane-associated motor protein expressed in developing sensory epithelia ( deafness / retinitis pigmentosa / unconventional myosins / band 4 . 1 family / alternative mRNA splicing ) (2005) (0)
Synaptic release evoked by depolarization in mouse cochlear inner hair cells imaged in situ in the isolated temporal bone (2010) (0)
Discovery Of The C2299G Deletion Of The USH2A Gene In An Algerian Family (2019) (0)
[Molecular bases of neurosensory deficits in man]. (1996) (0)
Edinburgh Research Explorer Novel gene function revealed by mouse mutagenesis screens for models of age-related disease (2016) (0)
Genetics of auditory mechano-electrical transduction (2014) (0)
Linking deafness genes to hair-bundle development and physiology: the role of hair-bundle links and associated proteins (2009) (0)
Agreement between eyes and correlation of structural and functional data in patients with Usher Syndrome-associated retinitis pigmentosa (2019) (0)
Phylogenetic analysis of Harmonin homology domains (2021) (0)
Structural Study of Whirlin, A Crucial PDZ Containing Protein Involved in the Mechanotransduction of Auditory Hair Cells (2016) (0)
[Etiological diagnosis of sensorineural deafness in children: a year-long review of genetic counseling for deaf people]. (1998) (0)
Genotype-phenotype correlations in patients with Usher syndrome type 2 harboring mutations in USH2A and ADGRV1 (2017) (0)
[Otology and audiology, a rapidly changing care pathway inspired by scientific breakthroughs]. (2022) (0)
Hereditary sensory defects: From genes to pathogenesis : Genetics of deafness (2004) (0)
Structural and Functional Correlations of Hyperautofluorescent Foveal Patch in Usher Syndrome Patients (2012) (0)
Twister mutant mice are defective for otogelin, a component specific to inner ear acellular membranes. (2000) (0)

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