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Christine Petit

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TOP 3
Aziz El-Amraoui; Christine Petit
Cadherin defects in inherited human diseases.
I Sahly; Cataldo Schietroma; Dominique Weil; José-Alain Sahel; Asadollah Aghaie; Amel Bahloul; Diane Carette; Eric Dufour; Inga Ebermann; Aziz El-Amraoui; Amrit Estivalet; Jean-Pierre Hardelin; Maria Iribarne; Andrea Lelli; Vincent Michel; Elise Pepermans; Isabelle Perfettini; Christine Petit
Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice.
Sedigheh Delmaghani; Nicolas Michalski; Asadollah Aghaie; Crystel Bonnet; Dominique Weil; Christine Petit
Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness.

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All Publications

2013: Aziz El-Amraoui; Christine Petit
Cadherin defects in inherited human diseases.
Progress in molecular biology and translational science 2013;116():361-84.
2012: I Sahly; Cataldo Schietroma; Dominique Weil; José-Alain Sahel; Asadollah Aghaie; Amel Bahloul; Diane Carette; Eric Dufour; Inga Ebermann; Aziz El-Amraoui; Amrit Estivalet; Jean-Pierre Hardelin; Maria Iribarne; Andrea Lelli; Vincent Michel; Elise Pepermans; Isabelle Perfettini; Christine Petit
Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice.
The Journal of cell biology 2012;199(2):381-99.
2012: Sedigheh Delmaghani; Nicolas Michalski; Asadollah Aghaie; Crystel Bonnet; Dominique Weil; Christine Petit
Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness.
Human molecular genetics 2012;21(17):3835-44.
2012: Saaid Safieddine; Aziz El-Amraoui; Christine Petit
The auditory hair cell ribbon synapse: from assembly to function.
Annual review of neuroscience 2012;35():509-28.
2011: Elisa Caberlotto; Vincent Michel; Isabelle Foucher; Amel Bahloul; Richard J Goodyear; Elise Pepermans; Nicolas Michalski; Isabelle Perfettini; Olinda Alegria-Prévot; Sébastien Chardenoux; Marcio Do Cruzeiro; Jean-Pierre Hardelin; Guy P Richardson; Paul Avan; Dominique Weil; Christine Petit
Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia.
Proceedings of the National Academy of Sciences of the United States of America 2011;108(14):5825-30.
2011: Ellen Reisinger; Chris Bresee; Jakob Neef; Ramya Nair; Kirsten Reuter; Anna Bulankina; Régis Nouvian; Manuel Koch; Johanna Bückers; Lars Kastrup; Isabelle Catherina Roux; Christine Petit; Stefan W Hell; Nils Brose; Jeong-Seop Rhee; Sebastian Kügler; John V Brigande; Tobias Moser
Probing the functional equivalence of otoferlin and synaptotagmin 1 in exocytosis.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2011;31(13):4886-95.
2011: Elisabeth Verpy; Michel Leibovici; Nicolas Michalski; Richard J Goodyear; Carine Houdon; Dominique Weil; Guy P Richardson; Christine Petit
Stereocilin connects outer hair cell stereocilia to one another and to the tectorial membrane.
The Journal of comparative neurology 2011;519(2):194-210.
2010: Aziz El-Amraoui; Christine Petit
[Stem cell therapy in the inner ear: recent achievements and prospects].
Médecine sciences : M/S 2010;26(11):981-5.
2010: Maryline Beurg; Nicolas Michalski; Saaid Safieddine; Yohan Bouleau; Ralf Schneggenburger; Edwin R Chapman; Christine Petit; Didier Dulon
Control of exocytosis by synaptotagmins and otoferlin in auditory hair cells.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2010;30(40):13281-90.
2010: Jacques Boutet de Monvel; Christine Petit
Wrapping up stereocilia rootlets.
Cell 2010;141(5):748-50.
2010: Raphaël Etournay; Léa Lepelletier; Jacques Boutet de Monvel; Vincent Michel; Nadège Cayet; Michel Leibovici; Dominique Weil; Isabelle Foucher; Jean-Pierre Hardelin; Christine Petit
Cochlear outer hair cells undergo an apical circumference remodeling constrained by the hair bundle shape.
Development (Cambridge, England) 2010;137(8):1373-83.
2010: Francisco J del Castillo; Martine Cohen-Salmon; Anne Charollais; Dorothée Caille; Paul D Lampe; Philippe Chavrier; Paolo Meda; Christine Petit
Consortin, a trans-Golgi network cargo receptor for the plasma membrane targeting and recycling of connexins.
Human molecular genetics 2010;19(2):262-75.
2010: Aziz El-Amraoui; Christine Petit
Cadherins as targets for genetic diseases.
Cold Spring Harbor perspectives in biology 2010;2(1):a003095.
2009: Isabelle Catherina Roux; Suzanne Hosie; Stuart L Johnson; Amel Bahloul; Nadège Cayet; Sylvie Nouaille; Corné J Kros; Christine Petit; Saaid Safieddine
Myosin VI is required for the proper maturation and function of inner hair cell ribbon synapses.
Human molecular genetics 2009;18(23):4615-28.
2009: Nicolas Michalski; Vincent Michel; Elisa Caberlotto; Gaëlle Lefèvre; Alexander F J van Aken; Jean-Yves Tinevez; Emilie Bizard; Christophe Houbron; Dominique Weil; Jean-Pierre Hardelin; Guy P Richardson; Corné J Kros; Pascal Martin; Christine Petit
Harmonin-b, an actin-binding scaffold protein, is involved in the adaptation of mechanoelectrical transduction by sensory hair cells.
Pflügers Archiv : European journal of physiology 2009;459(1):115-30.
2009: Didier Dulon; Saaid Safieddine; Sherri M Jones; Christine Petit
Otoferlin is critical for a highly sensitive and linear calcium-dependent exocytosis at vestibular hair cell ribbon synapses.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2009;29(34):10474-87.
2009: Amel Bahloul; Marie-Christine Simmler; Vincent Michel; Michel Leibovici; Isabelle Perfettini; Isabelle Catherina Roux; Dominique Weil; Sylvie Nouaille; Jian Zuo; Cristina Zadro; Danilo Licastro; Paolo Gasparini; Paul Avan; Jean-Pierre Hardelin; Christine Petit
Vezatin, an integral membrane protein of adherens junctions, is required for the sound resilience of cochlear hair cells.
EMBO molecular medicine 2009;1(2):125-38.
2009: Kirian Legendre; Christine Petit; Aziz El-Amraoui
[The outer hair cell of the mammalian cochlea: an outstanding amplifier].
Médecine sciences : M/S 2009;25(2):117-20.
2008: Elisabeth Verpy; Dominique Weil; Michel Leibovici; Richard J Goodyear; Ghislaine Hamard; Carine Houdon; Gaelle M Lefèvre; Jean-Pierre Hardelin; Guy P Richardson; Paul Avan; Christine Petit
Stereocilin-deficient mice reveal the origin of cochlear waveform distortions.
Nature 2008;456(7219):255-8.
2008: Kirian Legendre; Saaid Safieddine; Polonca Küssel-Andermann; Christine Petit; Aziz El-Amraoui
alphaII-betaV spectrin bridges the plasma membrane and cortical lattice in the lateral wall of the auditory outer hair cells.
Journal of cell science 2008;121(Pt 20):3347-56.
2008: Gaëlle Lefèvre; Vincent Michel; Dominique Weil; Léa Lepelletier; Emilie Bizard; Uwe Wolfrum; Jean-Pierre Hardelin; Christine Petit
A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth.
Development (Cambridge, England) 2008;135(8):1427-37.
2008: Maryline Beurg; Saaid Safieddine; Isabelle Catherina Roux; Yohan Bouleau; Christine Petit; Didier Dulon
Calcium- and otoferlin-dependent exocytosis by immature outer hair cells.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2008;28(8):1798-803.
2008: Michel Leibovici; Saaid Safieddine; Christine Petit
Mouse models for human hereditary deafness.
Current topics in developmental biology 2008;84():385-429.
2007: Marianne Lévêque; Sandrine Marlin; Laurence Jonard; Vincent Procaccio; Pascal Reynier; Patrizia Amati-Bonneau; Sylvain Baulande; Denis Pierron; Didier Lacombe; Françoise Duriez; Christine Francannet; Thierry Mom; Hubert Journel; Hélène Catros; Valérie Drouin-Garraud; Marie-Françoise Obstoy; Hélène Dollfus; Marie-Madeleine Eliot; Laurence Faivre; Christian Duvillard; Rémy Couderc; Erea-Noel Garabedian; Christine Petit; Delphine Feldmann; Françoise Denoyelle
Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip.
European journal of human genetics : EJHG 2007;15(11):1145-55.
2007: Raphaël Etournay; Ingrid Zwaenepoel; Isabelle Perfettini; Pierre Legrain; Christine Petit; Aziz El-Amraoui
Shroom2, a myosin-VIIa- and actin-binding protein, directly interacts with ZO-1 at tight junctions.
Journal of cell science 2007;120(Pt 16):2838-50.
2007: Vincent Hyenne; Céline Souilhol; Michel Cohen-Tannoudji; Silvia Cereghini; Christine Petit; Francina Langa; Bernard Maro; Marie-Christine Simmler
Conditional knock-out reveals that zygotic vezatin-null mouse embryos die at implantation.
Mechanisms of development 2007;124(6):449-62.
2007: Nicolas Michalski; Vincent Michel; Amel Bahloul; Gaëlle Lefèvre; Jérémie Barral; Hideshi Yagi; Sébastien Chardenoux; Dominique Weil; Pascal Martin; Jean-Pierre Hardelin; Makoto Sato; Christine Petit
Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2007;27(24):6478-88.
2007: Martine Cohen-Salmon; Béatrice Regnault; Nadège Cayet; Dorothée Caille; Karine Demuth; Jean-Pierre Hardelin; Nathalie Janel; Paolo Meda; Christine Petit
Connexin30 deficiency causes instrastrial fluid-blood barrier disruption within the cochlear stria vascularis.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(15):6229-34.
2006: Isabelle Catherina Roux; Saaid Safieddine; Régis Nouvian; M'hamed Grati; Marie-Christine Simmler; Amel Bahloul; Isabelle Perfettini; Morgane Le Gall; Philippe Rostaing; Ghislaine Hamard; Antoine Triller; Paul Avan; Tobias Moser; Christine Petit
Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse.
Cell 2006;127(2):277-89.
2006: Catherine Dodé; Luis Teixeira; Jacqueline Levilliers; Corinne Fouveaut; Philippe Bouchard; Marie-Laure Kottler; James Lespinasse; Anne Lienhardt-Roussie; Michèle Mathieu; Alexandre Moerman; Graeme Morgan; Arnaud Murat; Jean-Edmont Toublanc; Slawomir Wolczynski; Marc Delpech; Christine Petit; Jacques Young; Jean-Pierre Hardelin
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.
PLoS genetics 2006;2(10):e175.
2006: Sedigheh Delmaghani; Francisco del Castillo; Vincent Michel; Michel Leibovici; Asadollah Aghaie; Uri Ron; Lut Van Laer; Nir Ben-Tal; Guy Van Camp; Dominique Weil; Francina Langa; Mark Lathrop; Paul Avan; Christine Petit
Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.
Nature genetics 2006;38(7):770-8.
2006: Sébastien Albert; Hélène Blons; Laurence Jonard; Delphine Feldmann; Pierre Chauvin; Natalie Loundon; Annie Sergent-Allaoui; Muriel Houang; Alain Joannard; Sébastien Schmerber; Bruno Delobel; Jacques Leman; Hubert Journel; Hélène Catros; Hélène Dollfus; Marie-Madeleine Eliot; Albert David; Catherine Calais; Valérie Drouin-Garraud; Marie-Françoise Obstoy; Patrice Tran Ba Huy; Didier Lacombe; Françoise Duriez; Christine Francannet; Pierre Bitoun; Christine Petit; Eréa-Noel Garabédian; Rémy Couderc; Sandrine Marlin; Françoise Denoyelle
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.
European journal of human genetics : EJHG 2006;14(6):773-9.
2006: Isabelle Rouillon; A Marcolla; Isabelle Catherina Roux; Sandrine Marlin; Delphine Feldmann; Rémy Couderc; Laurence Jonard; Christine Petit; Françoise Denoyelle; Eréa-Noel Garabédian; Natalie Loundon
Results of cochlear implantation in two children with mutations in the OTOF gene.
International journal of pediatric otorhinolaryngology 2006;70(4):689-96.
2006: Christine Petit
From deafness genes to hearing mechanisms: harmony and counterpoint.
Trends in molecular medicine 2006;12(2):57-64.
2005: Avital Adato; Gaëlle Lefèvre; Benjamin Delprat; Vincent Michel; Nicolas Michalski; Sébastien Chardenoux; Dominique Weil; Aziz El-Amraoui; Christine Petit
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.
Human molecular genetics 2005;14(24):3921-32.
2005: Vincent Hyenne; Sophie Louvet-Vallée; Aziz El-Amraoui; Christine Petit; Bernard Maro; Marie-Christine Simmler
Vezatin, a protein associated to adherens junctions, is required for mouse blastocyst morphogenesis.
Developmental biology 2005;287(1):180-91.
2005: Aziz El-Amraoui; Christine Petit
Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells.
Journal of cell science 2005;118(Pt 20):4593-603.
2005: Delphine Feldmann; Françoise Denoyelle; Hélène Blons; Stanislas LYONNET; Natalie Loundon; Isabelle Rouillon; Smaïl Hadj-Rabia; Christine Petit; Rémy Couderc; Eréa-Noel Garabédian; Sandrine Marlin
The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness.
American journal of medical genetics. Part A 2005;137(2):225-7.
2005: Aziz El-Amraoui; Gaëlle Lefèvre; Jean-Pierre Hardelin; Christine Petit
[Usher syndrome type I and the differentiation of inner ear sensory cells' hair bundles].
Médecine sciences : M/S 2005;21(8-9):737-40.
2005: Francisco del Castillo; Montserrat Rodríguez-Ballesteros; Araceli Alvarez; Tim Hutchin; Emanuela Leonardi; Camila Andréa de Oliveira; Hela Azaiez; Zippora Brownstein; M R Avenarius; Sandrine Marlin; A Pandya; Hashem Shahin; Kirby R Siemering; Dominique Weil; W Wuyts; Luis A Aguirre; Yolanda Martín; Miguel A Moreno-Pelayo; Manuela Villamar; Karen B Avraham; Hans-Henrik M Dahl; Moien Kanaan; Walter E Nance; Christine Petit; R J H Smith; Guy Van Camp; Edi Sartorato; Alessandra Murgia; Felipe Moreno; Ignacio del Castillo
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.
Journal of medical genetics 2005;42(7):588-94.
2005: Raphaël Etournay; Aziz El-Amraoui; Amel Bahloul; Stéphane Blanchard; Isabelle Catherina Roux; Guillaume Pézeron; Nicolas Michalski; Laurent Daviet; Jean-Pierre Hardelin; Pierre Legrain; Christine Petit
PHR1, an integral membrane protein of the inner ear sensory cells, directly interacts with myosin 1c and myosin VIIa.
Journal of cell science 2005;118(Pt 13):2891-9.
2005: Michel Leibovici; Elisabeth Verpy; Richard J Goodyear; Ingrid Zwaenepoel; Stéphane Blanchard; Sophie Lainé; Guy P Richardson; Christine Petit
Initial characterization of kinocilin, a protein of the hair cell kinocilium.
Hearing research 2005;203(1-2):144-53.
2005: Vincent Michel; Richard J Goodyear; Dominique Weil; Walter Marcotti; Isabelle Perfettini; Uwe Wolfrum; Corné J Kros; Guy P Richardson; Christine Petit
Cadherin 23 is a component of the transient lateral links in the developing hair bundles of cochlear sensory cells.
Developmental biology 2005;280(2):281-94.
2005: Avital Adato; Vincent Michel; Yoshiaki Kikkawa; Jan Reiners; Kumar N Alagramam; Dominique Weil; Hiromichi Yonekawa; Uwe Wolfrum; Aziz El-Amraoui; Christine Petit
Interactions in the network of Usher syndrome type 1 proteins.
Human molecular genetics 2005;14(3):347-56.
2005: Benjamin Delprat; Vincent Michel; Richard J Goodyear; Yasuhiro Yamasaki; Nicolas Michalski; Aziz El-Amraoui; Isabelle Perfettini; Pierre Legrain; Guy Richardson; Jean-Pierre Hardelin; Christine Petit
Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly.
Human molecular genetics 2005;14(3):401-10.
2004: Saber Masmoudi; Ilhem Charfedine; I B Rebeh; Ahmed Rebai; Abdelaziz Tlili; Ali Ghorbel; Hanen Belguith; Christine Petit; Mohamed Drira; Hammadi Ayadi
Refined mapping of the autosomal recessive non-syndromic deafness locus DFNB13 using eight novel microsatellite markers.
Clinical genetics 2004;66(4):358-64.
2004: Hélène Blons; Delphine Feldmann; V Duval; O Messaz; Françoise Denoyelle; Natalie Loundon; A Sergout-Allaoui; Muriel Houang; Françoise Duriez; Didier Lacombe; Bruno Delobel; Jacques Leman; Hélène Catros; Hubert Journel; Valérie Drouin-Garraud; Marie-Françoise Obstoy; Annick Toutain; S Oden; JE Toublanc; Rémy Couderc; Christine Petit; Eréa-Noel Garabédian; Sandrine Marlin
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
Clinical genetics 2004;66(4):333-40.
2004: Christine Petit
Memorial lecture-hereditary sensory defects: from genes to pathogenesis.
American journal of medical genetics. Part A 2004;130A(1):3-7.
2004: Sandra Sousa; Didier Cabanes; Aziz El-Amraoui; Christine Petit; Marc Lecuit; Pascale Cossart
Unconventional myosin VIIa and vezatin, two proteins crucial for Listeria entry into epithelial cells.
Journal of cell science 2004;117(Pt 10):2121-30.
2004: Martine Cohen-Salmon; Stephan Maxeiner; Olaf Krüger; Martin Theis; Klaus Willecke; Christine Petit
Expression of the connexin43- and connexin45-encoding genes in the developing and mature mouse inner ear.
Cell and tissue research 2004;316(1):15-22.
2004: Delphine Feldmann; Françoise Denoyelle; Natalie Loundon; Dominique Weil; Erea-Noel Garabedian; Rémy Couderc; Alain Joannard; Sébastien Schmerber; Bruno Delobel; Jacques Leman; Hubert Journel; Hélène Catros; Claude Ferrec; Valérie Drouin-Garraud; Marie-Françoise Obstoy; Lucien Moati; Christine Petit; Sandrine Marlin
Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene.
European journal of human genetics : EJHG 2004;12(4):279-84.
2004: Jean-Pierre Hardelin; Françoise Denoyelle; Jacqueline Levilliers; Marie-Christine Simmler; Christine Petit
[Hereditary deafness: molecular genetics].
Médecine sciences : M/S 2004;20(3):311-6.
2004: Silvia Modamio-Høybjør; Miguel A Moreno-Pelayo; Angeles Mencía; Ignacio del Castillo; Sebastian Chardenoux; D Morais; M Lathrop; Christine Petit; Felipe Moreno
A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA50, maps to chromosome 7q32 between the DFNB17 and DFNB13 deafness loci.
Journal of medical genetics 2004;41(2):e14.
2003: Ignacio del Castillo; Miguel A Moreno-Pelayo; Francisco del Castillo; Zippora Brownstein; Sandrine Marlin; Quint Adina; David J Cockburn; Arti Pandya; Kirby R Siemering; G Parker Chamberlin; Ester Ballana; Wim Wuyts; Andréa T Maciel-Guerra; Araceli Alvarez; Manuela Villamar; Mordechai Shohat; Dvorah Abeliovich; Hans-Henrik M Dahl; Xavier Estivill; Paolo Gasparini; Tim Hutchin; Walter E Nance; Edi Sartorato; Richard J H Smith; Guy Van Camp; Karen B Avraham; Christine Petit; Felipe Moreno
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.
American journal of human genetics 2003;73(6):1452-8.
2003: Claire Desnos; Jean-Sébastien SCHONN; Sébastien Huet; Viet Samuel Tran; Aziz El-Amraoui; Graça Raposo; Isabelle Fanget; Catherine Chapuis; Gaël Ménasché; Geneviève de Saint Basile; Christine Petit; Sophie Cribier; Jean-Pierre Henry; François Darchen
Rab27A and its effector MyRIP link secretory granules to F-actin and control their motion towards release sites.
The Journal of cell biology 2003;163(3):559-70.
2003: Miguel A Moreno-Pelayo; Silvia Modamio-Høybjør; Angeles Mencía; Ignacio del Castillo; Sebastian Chardenoux; M Fernández-Burriel; M Lathrop; Christine Petit; Felipe Moreno
DFNA49, a novel locus for autosomal dominant non-syndromic hearing loss, maps proximal to DFNA7/DFNM1 region on chromosome 1q21-q23.
Journal of medical genetics 2003;40(11):832-6.
2003: Jan Reiners; Boris Reidel; Aziz El-Amraoui; Batiste Boëda; Irene Huber; Christine Petit; Uwe Wolfrum
Differential distribution of harmonin isoforms and their possible role in Usher-1 protein complexes in mammalian photoreceptor cells.
Investigative ophthalmology & visual science 2003;44(11):5006-15.
2003: Sedigheh Delmaghani; Asadollah Aghaie; Sylvie Compain-Nouaille; Afsaneh Ataie; Arnaud Lemainque; Sirous Zeinali; Mark Lathrop; Dominique Weil; Christine Petit
DFNB40, a recessive form of sensorineural hearing loss, maps to chromosome 22q11.21-12.1.
European journal of human genetics : EJHG 2003;11(10):816-8.
2003: Vincent Michel; Jean-Pierre Hardelin; Christine Petit
Molecular mechanism of a frequent genetic form of deafness.
The New England journal of medicine 2003;349(7):716-7.
2003: Philomena Mburu; Mirna Mustapha; Anabel Varela; Dominique Weil; Aziz El-Amraoui; Ralph H Holme; Andreas Rump; Rachel E Hardisty; Stéphane Blanchard; Roney Coimbra; Isabelle Perfettini; Nick Parkinson; Ann-Marie Mallon; Peter Glenister; Mike J Rogers; Adam J Paige; Lee Moir; Jo Clay; Andre Rosenthal; Xue Zhong Liu; Gonzalo Blanco; Karen P Steel; Christine Petit; Steve D M Brown
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.
Nature genetics 2003;34(4):421-8.
2003: Xue Zhong Liu; Xiao Mei Ouyang; Xia Juan Xia; Jing Zheng; Arti Pandya; Fang Li; Li Lin Du; Katherine O Welch; Christine Petit; Richard J H Smith; Bradley T Webb; Denise Yan; Kathleen S Arnos; David Corey; Peter Dallos; Walter E Nance; Zheng Yi Chen
Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss.
Human molecular genetics 2003;12(10):1155-62.
2003: Catherine Dodé; Jacqueline Levilliers; Jean-Michel Dupont; Anne De Paepe; Nathalie Le Dû; Nadia Soussi-Yanicostas; Roney Coimbra; Sedigheh Delmaghani; Sylvie Compain-Nouaille; Françoise Baverel; Christophe Pêcheux; Dominique Le Tessier; Corinne Cruaud; Marc Delpech; Frank Speleman; Stefan Vermeulen; Andrea Amalfitano; Yvan Bachelot; Philippe Bouchard; Sylvie Cabrol; Jean-Claude Carel; Henriette A Delemarre-Van De Waal; Barbara Goulet-Salmon; Marie-Laure Kottler; Odile Richard; Franco Sanchez-Franco; Robert Saura; Jacques Young; Christine Petit; Jean-Pierre Hardelin
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
Nature genetics 2003;33(4):463-5.
2003: Dominique Weil; Aziz El-Amraoui; Saber Masmoudi; Mirna Mustapha; Yoshiaki Kikkawa; Sophie Lainé; Sedigheh Delmaghani; Avital Adato; Sellama Nadifi; Zeineb Ben Zina; Christian Hamel; Andreas Gal; Hammadi Ayadi; Hiromichi Yonekawa; Christine Petit
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.
Human molecular genetics 2003;12(5):463-71.
2003: Tammy L Dellovade; Jean-Pierre Hardelin; Nadia Soussi-Yanicostas; Donald Pfaff; Marlene Schwanzel-Fukuda; Christine Petit
Anosmin-1 immunoreactivity during embryogenesis in a primitive eutherian mammal.
Brain research. Developmental brain research 2003;140(2):157-67.
2003: Saber Masmoudi; Abdelaziz Tlili; Marja Majava; Ali Ghorbel; Sébastien Chardenoux; Arnaud Lemainque; Zeineb Ben Zina; Jihene Moala; Minna Männikkö; Dominique Weil; Mark Lathrop; Leena Ala-Kokko; Mohamed Drira; Christine Petit; Hammadi Ayadi
Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1.
European journal of human genetics : EJHG 2003;11(2):185-8.
2003: Roberto Bruzzone; Valentina Veronesi; Danielle Gomès; Massimiliano Bicego; Nathalie Duval; Sandrine Marlin; Christine Petit; Paola D'Andrea; Thomas W White
Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness.
FEBS letters 2003;533(1-3):79-88.
2003: Barbara Teubner; Vincent Michel; Jörg Pesch; Jürgen Lautermann; Martine Cohen-Salmon; Goran Söhl; Klaus Jahnke; Elke Winterhager; Claus Herberhold; Jean-Pierre Hardelin; Christine Petit; Klaus Willecke
Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential.
Human molecular genetics 2003;12(1):13-21.
2003: Silvia Modamio-Høybjør; Miguel A Moreno-Pelayo; Angeles Mencía; Ignacio del Castillo; Sebastian Chardenoux; Daniel Armenta; Mark Lathrop; Christine Petit; Felipe Moreno
A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29.
Human genetics 2003;112(1):24-8.
2002: Batiste Boëda; Aziz El-Amraoui; Amel Bahloul; Richard J Goodyear; Laurent Daviet; Stéphane Blanchard; Isabelle Perfettini; Karl R Fath; Spencer L Shorte; Jan Reiners; Anne Houdusse; Pierre Legrain; Uwe Wolfrum; Guy Richardson; Christine Petit
Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle.
The EMBO journal 2002;21(24):6689-99.
2002: Elise Chapiro; Delphine Feldmann; Françoise Denoyelle; Damien Sternberg; Claude Jardel; Marie-Madeleine Eliot; Didier Bouccara; Dominique Weil; Eréa-Noel Garabédian; Rémy Couderc; Christine Petit; Sandrine Marlin
Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor.
European journal of human genetics : EJHG 2002;10(12):851-6.
2002: Delphine Marsac; D Loirat; Christine Petit; Olivier Schwartz; Marie-Louise Michel
Enhanced presentation of major histocompatibility complex class I-restricted human immunodeficiency virus type 1 (HIV-1) Gag-specific epitopes after DNA immunization with vectors coding for vesicular stomatitis virus glycoprotein-pseudotyped HIV-1 Gag particles.
Journal of virology 2002;76(15):7544-53.
2002: Martine Cohen-Salmon; Thomas Ott; Vincent Michel; Jean-Pierre Hardelin; Isabelle Perfettini; Michel Eybalin; Tao Wu; Daniel C Marcus; Philine Wangemann; Klaus Willecke; Christine Petit
Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death.
Current biology : CB 2002;12(13):1106-11.
2002: Xiao Mei Ouyang; Xia Juan Xia; Elisabeth Verpy; Li Lin Du; Arti Pandya; Christine Petit; Thomas J Balkany; Walter E Nance; Xue Zhong Liu
Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.
Human genetics 2002;111(1):26-30.
2002: Myrna Medlej-Hashim; Mirna Mustapha; Eliane Chouery; Dominique Weil; Joel Parronaud; Nabiha Salem; Valérie Delague; Jacques Loiselet; Mark Lathrop; Christine Petit; André Mégarbané
Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations.
European journal of human genetics : EJHG 2002;10(6):391-4.
2002: Roney Coimbra; Dominique Weil; Phillipe Brottier; Stéphane Blanchard; Michael Levi; Jean-Pierre Hardelin; Jean Weissenbach; Christine Petit
A subtracted cDNA library from the zebrafish (Danio rerio) embryonic inner ear.
Genome research 2002;12(6):1007-11.
2002: Aziz El-Amraoui; Jean-Sébastien SCHONN; Polonca Küssel-Andermann; Stéphane Blanchard; Claire Desnos; Jean-Pierre Henry; Uwe Wolfrum; François Darchen; Christine Petit
MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes.
EMBO reports 2002;3(5):463-70.
2002: Ingrid Zwaenepoel; Mirna Mustapha; Michel Leibovici; Elisabeth Verpy; Richard J Goodyear; Xue Zhong Liu; Sylvie Nouaille; Walter E Nance; Moien Kanaan; Karen B Avraham; Fredj Tekaia; Jacques Loiselet; Mark Lathrop; Guy Richardson; Christine Petit
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.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(9):6240-5.
2002: Nadia Soussi-Yanicostas; Fernando de Castro; A Karyn Julliard; Isabelle Perfettini; Alain Chédotal; Christine Petit
Anosmin-1, defective in the X-linked form of Kallmann syndrome, promotes axonal branch formation from olfactory bulb output neurons.
Cell 2002;109(2):217-28.
2002: Mirna Mustapha; Eliane Chouery; Delphine Torchard-Pagnez; Sylvie Nouaille; Awni Khrais; Fouad N Sayegh; André Mégarbané; Jacques Loiselet; Mark Lathrop; Christine Petit; Dominique Weil
A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25.
Human genetics 2002;110(4):348-50.
2002: Mirna Mustapha; Eliane Chouery; Sébastien Chardenoux; Mohamed Naboulsi; Joël Paronnaud; Arnaud Lemainque; André Mégarbané; Jacques Loiselet; Dominique Weil; Mark Lathrop; Christine Petit
DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34.
European journal of human genetics : EJHG 2002;10(3):210-2.
2002: Françoise Denoyelle; Mirna Mustapha; Christine Petit
DFNB21.
Advances in oto-rhino-laryngology 2002;61():153-5.
2002: Françoise Denoyelle; Christine Petit
DFNB9.
Advances in oto-rhino-laryngology 2002;61():142-4.
2002: Françoise Denoyelle; Geneviève Lina-Granade; Christine Petit
DFNA3.
Advances in oto-rhino-laryngology 2002;61():47-52.
2001: Elisabeth Verpy; Saber Masmoudi; Ingrid Zwaenepoel; Michel Leibovici; Tim Hutchin; I Del Castillo; Sylvie Nouaille; Stéphane Blanchard; Sophie Lainé; Jean-Luc Popot; Felipe Moreno; Robert F Mueller; Christine Petit
Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus.
Nature genetics 2001;29(3):345-9.
2001: Valérie Maréchal; Marie-Christine Prevost; Christine Petit; Emmanuelle Perret; Jean Michel Heard; Olivier Schwartz
Human immunodeficiency virus type 1 entry into macrophages mediated by macropinocytosis.
Journal of virology 2001;75(22):11166-77.
2001: Mirna Mustapha; Nabiha Salem; Valérie Delague; Eliane Chouery; M Ghassibeh; MYRIAM RAI; Jacques Loiselet; Christine Petit; André Mégarbané
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.
Journal of medical genetics 2001;38(10):E36.
2001: Aziz El-Amraoui; Martine Cohen-Salmon; Christine Petit; Marie-Christine Simmler
Spatiotemporal expression of otogelin in the developing and adult mouse inner ear.
Hearing research 2001;158(1-2):151-9.
2001: Sandrine Marlin; Eréa-Noel Garabédian; Gilles Roger; L Moatti; N Matha; P Lewin; Christine Petit; Françoise Denoyelle
Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling.
Archives of otolaryngology--head & neck surgery 2001;127(8):927-33.
2001: Batiste Boëda; Dominique Weil; Christine Petit
A specific promoter of the sensory cells of the inner ear defined by transgenesis.
Human molecular genetics 2001;10(15):1581-9.
2001: Zeineb Ben Zina; Saber Masmoudi; Hammadi Ayadi; F Chaker; Ali Ghorbel; Mohamed Drira; Christine Petit
From DFNB2 to Usher syndrome: variable expressivity of the same disease.
American journal of medical genetics 2001;101(2):181-3.
2001: Roberto Bruzzone; Danielle Gomès; E Denoyelle; Nathalie Duval; J Perea; Valentina Veronesi; Dominique Weil; Christine Petit; Marie-Madeleine Gabellec; Paola D'Andrea; Thomas W White
Functional analysis of a dominant mutation of human connexin26 associated with nonsyndromic deafness.
Cell communication & adhesion 2001;8(4-6):425-31.
2001: Christine Petit
Usher syndrome: from genetics to pathogenesis.
Annual review of genomics and human genetics 2001;2():271-97.
2001: Christine Petit; Jacqueline Levilliers; Jean-Pierre Hardelin
Molecular genetics of hearing loss.
Annual review of genetics 2001;35():589-646.
2001: Ingrid Zwaenepoel; Elisabeth Verpy; Stéphane Blanchard; M Meins; E Apfelstedt-Sylla; Andreas Gal; Christine Petit
Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis.
Human mutation 2001;17(1):34-41.
2000: Martine Cohen-Salmon; Dorothy A. Frenz; W Liu; Elisabeth Verpy; S Voegeling; Christine Petit
Fdp, a new fibrocyte-derived protein related to MIA/CD-RAP, has an in vitro effect on the early differentiation of the inner ear mesenchyme.
The Journal of biological chemistry 2000;275(51):40036-41.
2000: Polonca Küssel-Andermann; Aziz El-Amraoui; Saaid Safieddine; Sylvie Nouaille; Isabelle Perfettini; Marc Lecuit; Pascale Cossart; Uwe Wolfrum; Christine Petit
Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin-catenins complex.
The EMBO journal 2000;19(22):6020-9.
2000: Saber Masmoudi; A Elgaied-Boulila; I Kassab; Saida Ben Arab; S Blanchard; J E Bouzouita; Mohamed Drira; A Kassab; Slah Hachicha; Christine Petit; Hammadi Ayadi
Determination of the frequency of connexin26 mutations in inherited sensorineural deafness and carrier rates in the Tunisian population using DGGE.
Journal of medical genetics 2000;37(11):E39.
2000: Marie-Christine Simmler; Ingrid Zwaenepoel; Elisabeth Verpy; L Guillaud; Colette Elbaz; Christine Petit; Jean-Jacques Panthier
Twister mutant mice are defective for otogelin, a component specific to inner ear acellular membranes.
Mammalian genome : official journal of the International Mammalian Genome Society 2000;11(11):960-6.
2000: Polonca Küssel-Andermann; Aziz El-Amraoui; Saaid Safieddine; Jean-Pierre Hardelin; Sylvie Nouaille; J Camonis; Christine Petit
Unconventional myosin VIIA is a novel A-kinase-anchoring protein.
The Journal of biological chemistry 2000;275(38):29654-9.
2000: Elisabeth Verpy; Michel Leibovici; Ingrid Zwaenepoel; Xue Zhong Liu; Andreas Gal; N Salem; A Mansour; Stéphane Blanchard; I Kobayashi; Bronya J B Keats; R Slim; Christine Petit
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.
Nature genetics 2000;26(1):51-5.
2000: S Ernest; Gerd-Jörg Rauch; Pascal Haffter; Robert Geisler; Christine Petit; Teresa Nicolson
Mariner is defective in myosin VIIA: a zebrafish model for human hereditary deafness.
Human molecular genetics 2000;9(14):2189-96.
2000: S Yasunaga; M'hamed Grati; Sébastien Chardenoux; Tenesha N Smith; Thomas B Friedman; Anil K Lalwani; Edward R Wilcox; Christine Petit
OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.
American journal of human genetics 2000;67(3):591-600.
2000: Christine Petit; Olivier Schwartz; Fabrizio Mammano
The karyophilic properties of human immunodeficiency virus type 1 integrase are not required for nuclear import of proviral DNA.
Journal of virology 2000;74(15):7119-26.
2000: Saida Ben Arab; M Hmani; F Denoyelle; A Boulila-Elgaied; Sébastien Chardenoux; Slah Hachicha; Christine Petit; Hammadi Ayadi
Mutations of GJB2 in three geographic isolates from northern Tunisia: evidence for genetic heterogeneity within isolates.
Clinical genetics 2000;57(6):439-43.
2000: Avital Adato; L Raskin; Christine Petit; Batsheva Bonne-Tamir
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.
European journal of human genetics : EJHG 2000;8(6):437-42.
2000: I Casademont; D Chevrier; Françoise Denoyelle; Christine Petit; Jean-Luc Guesdon
A simple and reliable method for the detection of the 30delG mutation of the CX26 gene.
Molecular and cellular probes 2000;14(3):149-52.
2000: S Yasunaga; Christine Petit
Physical map of the region surrounding the OTOFERLIN locus on chromosome 2p22-p23.
Genomics 2000;66(1):110-2.
2000: Véronique Zennou; Christine Petit; Denise Guetard; U Nerhbass; Luc Montagnier; Pierre Charneau
HIV-1 genome nuclear import is mediated by a central DNA flap.
Cell 2000;101(2):173-85.
2000: Tatjana Kharkovets; Jean-Pierre Hardelin; Saaid Safieddine; Michaela Schweizer; Aziz El-Amraoui; Christine Petit; Thomas J Jentsch
KCNQ4, a K+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway.
Proceedings of the National Academy of Sciences of the United States of America 2000;97(8):4333-8.
2000: Marie-Christine Simmler; Martine Cohen-Salmon; Aziz El-Amraoui; L Guillaud; J C Benichou; Christine Petit; Jean-Jacques Panthier
Targeted disruption of otog results in deafness and severe imbalance.
Nature genetics 2000;24(2):139-43.
2000: Christine Petit
[Contribution of human genetics to the understanding of sensory systems].
Bulletin de l'Académie nationale de médecine 2000;184(7):1383-90; discussion 1390-2.
2000: Jean-Pierre Hardelin; Nadia Soussi-Yanicostas; O Ardouin; Jacqueline Levilliers; Christine Petit
Kallmann syndrome.
Advances in oto-rhino-laryngology 2000;56():268-74.
2000: S Yasunaga; M'hamed Grati; Christine Petit
DFNB9 and DFNB12.
Advances in oto-rhino-laryngology 2000;56():164-7.
2000: Françoise Denoyelle; Dominique Weil; Jacqueline Levilliers; Christine Petit
DFNA3.
Advances in oto-rhino-laryngology 2000;56():78-83.
2000: V Kalatzis; Christine Petit
Branchio-Oto-Renal syndrome.
Advances in oto-rhino-laryngology 2000;56():39-44.
2000: O Ardouin; R Legouis; L Fasano; Brigitte David-Watine; Henri Korn; Jean-Pierre Hardelin; Christine Petit
Characterization of the two zebrafish orthologues of the KAL-1 gene underlying X chromosome-linked Kallmann syndrome.
Mechanisms of development 2000;90(1):89-94.
1999: Christine Petit; Olivier Schwartz; Fabrizio Mammano
Oligomerization within virions and subcellular localization of human immunodeficiency virus type 1 integrase.
Journal of virology 1999;73(6):5079-88.
1999: Jean-Pierre Hardelin; A K Julliard; B Moniot; Nadia Soussi-Yanicostas; C Verney; Marlene Schwanzel-Fukuda; C Ayer-Le Lievre; Christine Petit
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.
Developmental dynamics : an official publication of the American Association of Anatomists 1999;215(1):26-44.
1999: Martine Cohen-Salmon; M G Mattei; Christine Petit
Mapping of the otogelin gene (OTGN) to mouse chromosome 7 and human chromosome 11p14.3: a candidate for human autosomal recessive nonsyndromic deafness DFNB18.
Mammalian genome : official journal of the International Mammalian Genome Society 1999;10(5):520-2.
1999: Françoise Denoyelle; Sandrine Marlin; Dominique Weil; L Moatti; Pierre Chauvin; Eréa-Noel Garabédian; Christine Petit
Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.
Lancet 1999;353(9161):1298-303.
1999: M Hmani; Ali Ghorbel; A Boulila-Elgaied; Zeineb Ben Zina; W Kammoun; Mohamed Drira; Mohamed Chaabouni; Christine Petit; Hammadi Ayadi
A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2.
European journal of human genetics : EJHG 1999;7(3):363-7.
1999: S Yasunaga; M'hamed Grati; Martine Cohen-Salmon; Aziz El-Amraoui; Mirna Mustapha; N Salem; E El-Zir; Jacques Loiselet; Christine Petit
A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness.
Nature genetics 1999;21(4):363-9.
1999: Mirna Mustapha; Dominique Weil; Sébastien Chardenoux; S Elias; E El-Zir; Jacques Beckmann; Jacques Loiselet; Christine Petit
An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21.
Human molecular genetics 1999;8(3):409-12.
1999: Christian Kubisch; Björn C Schroeder; Thomas Friedrich; B Lütjohann; Aziz El-Amraoui; S Marlin; Christine Petit; Thomas J Jentsch
KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.
Cell 1999;96(3):437-46.
1999: Elisabeth Verpy; Michel Leibovici; Christine Petit
Characterization of otoconin-95, the major protein of murine otoconia, provides insights into the formation of these inner ear biominerals.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(2):529-34.
1999: Sandrine Marlin; Stéphane Blanchard; R Slim; Didier Lacombe; Françoise Denoyelle; Jean-Luc Alessandri; E Calzolari; Valérie Drouin-Garraud; F G Ferraz; Alain Fourmaintraux; N Philip; JE Toublanc; Christine Petit
Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient.
Human mutation 1999;14(5):377-86.
1998: V Kalatzis; I Sahly; Aziz El-Amraoui; Christine Petit
Eya1 expression in the developing ear and kidney: towards the understanding of the pathogenesis of Branchio-Oto-Renal (BOR) syndrome.
Developmental dynamics : an official publication of the American Association of Anatomists 1998;213(4):486-99.
1998: Mirna Mustapha; Nabiha Salem; Dominique Weil; E El-Zir; Jacques Loiselet; Christine Petit
Identification of a locus on chromosome 7q31, DFNB14, responsible for prelingual sensorineural non-syndromic deafness.
European journal of human genetics : EJHG 1998;6(6):548-51.
1998: Sandrine Marlin; JE Toublanc; Christine Petit
Two cases of Townes-Brocks syndrome with previously undescribed anomalies.
Clinical dysmorphology 1998;7(4):295-8.
1998: Nadia Soussi-Yanicostas; Catherine Faivre-Sarrailh; Jean-Pierre Hardelin; Jacqueline Levilliers; Geneviève ROUGON; Christine Petit
Anosmin-1 underlying the X chromosome-linked Kallmann syndrome is an adhesion molecule that can modulate neurite growth in a cell-type specific manner.
Journal of cell science 1998;111 ( Pt 19)():2953-65.
1998: Fabrizio Mammano; Christine Petit; François Clavel
Resistance-associated loss of viral fitness in human immunodeficiency virus type 1: phenotypic analysis of protease and gag coevolution in protease inhibitor-treated patients.
Journal of virology 1998;72(9):7632-7.
1998: M Saouda; A Mansour; Y Bou Moglabey; E El-Zir; Mirna Mustapha; Hassan Chaib; A Nehmé; André Mégarbané; Jacques Loiselet; Christine Petit; Rima Slim
The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region.
Human genetics 1998;103(2):193-8.
1998: Sandrine Marlin; Françoise Denoyelle; Denise Busquet; N Garabedian; Christine Petit
A particular case of deafness-oligodontia syndrome.
International journal of pediatric otorhinolaryngology 1998;44(1):63-9.
1998: Françoise Denoyelle; Geneviève Lina-Granade; Henri Plauchu; Roberto Bruzzone; H Chaïb; F Lévi-Acobas; Dominique Weil; Christine Petit
Connexin 26 gene linked to a dominant deafness.
Nature 1998;393(6683):319-20.
1998: Mirna Mustapha; Sébastien Chardenoux; A Nieder; Nabiha Salem; J Weissenbach; E El-Zir; Jacques Loiselet; Christine Petit
A sensorineural progressive autosomal recessive form of isolated deafness, DFNB13, maps to chromosome 7q34-q36.
European journal of human genetics : EJHG 1998;6(3):245-50.
1998: Jean-Pierre Hardelin; Nadia Soussi-Yanicostas; Jacqueline Levilliers; V Kalatzis; S Abdelhak; Martine Cohen-Salmon; Christine Petit
Molecular approach to the pathogenesis of renal anomalies in Kallmann's syndrome and in the branchio-oto-renal syndrome.
Advances in nephrology from the Necker Hospital 1998;28():419-28.
1998: V Kalatzis; Christine Petit
The fundamental and medical impacts of recent progress in research on hereditary hearing loss.
Human molecular genetics 1998;7(10):1589-97.
1998: Catherine Dodé; Dominique Weil; Jacqueline Levilliers; F Crozet; H Chaïb; F Levi-Acobas; P Guilford; Christine Petit
Sequence characterization of a newly identified human alpha-tubulin gene (TUBA2).
Genomics 1998;47(1):125-30.
1997: Martine Cohen-Salmon; Aziz El-Amraoui; Michel Leibovici; Christine Petit
Otogelin: a glycoprotein specific to the acellular membranes of the inner ear.
Proceedings of the National Academy of Sciences of the United States of America 1997;94(26):14450-5.
1997: S Abdelhak; V Kalatzis; Roland Heilig; S Compain; D Samson; C Vincent; F Levi-Acobas; Corinne Cruaud; M Le Merrer; M Mathieu; R König; J Vigneron; Jean Weissenbach; Christine Petit; Dominique Weil
Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1.
Human molecular genetics 1997;6(13):2247-55.
1997: Françoise Denoyelle; Dominique Weil; Marion A Maw; SA Wilcox; NJ Lench; DR Allen-Powell; AH Osborn; Hans-Henrik M Dahl; A Middleton; MJ Houseman; Catherine Dodé; Sandrine Marlin; A Boulila-ElGaïed; M'hamed Grati; Hammadi Ayadi; S BenArab; Pierre Bitoun; Geneviève Lina-Granade; Jacqueline Godet; Mirna Mustapha; Jacques Loiselet; E El-Zir; A Aubois; Alain Joannard; E N Garabédian; R J Gardner; J Levilliers; R F Mueller; Christine Petit
Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.
Human molecular genetics 1997;6(12):2173-7.
1997: Avital Adato; Dominique Weil; H Kalinski; Y Pel-Or; Hammadi Ayadi; Christine Petit; Michael Korostishevsky; Batsheva Bonne-Tamir
Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.
American journal of human genetics 1997;61(4):813-21.
1997: I Sahly; Aziz El-Amraoui; marc Mordekhaï ABITBOL; Christine Petit; Jean-Louis Dufier
Expression of myosin VIIA during mouse embryogenesis.
Anatomy and embryology 1997;196(2):159-70.
1997: C Vincent; V Kalatzis; S Abdelhak; Hassan Chaib; S Compain; J Helias; F M Vaneecloo; Christine Petit
BOR and BO syndromes are allelic defects of EYA1.
European journal of human genetics : EJHG 1997;5(4):242-6.
1997: Dominique Weil; P Küssel; Stéphane Blanchard; G Lévy; F Levi-Acobas; Mohamed Drira; Hammadi Ayadi; Christine Petit
The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene.
Nature genetics 1997;16(2):191-3.
1997: Martine Cohen-Salmon; F Crozet; G Rebillard; Christine Petit
Cloning and characterization of the mouse collapsin response mediator protein-1, Crmp1.
Mammalian genome : official journal of the International Mammalian Genome Society 1997;8(5):349-51.
1997: F Crozet; Aziz El-Amraoui; Stéphane Blanchard; M Lenoir; C Ripoll; P Vago; C Hamel; C Fizames; F Levi-Acobas; Danièle Depétris; M G Mattei; Dominique Weil; R Pujol; Christine Petit
Cloning of the genes encoding two murine and human cochlear unconventional type I myosins.
Genomics 1997;40(2):332-41.
1997: S Abdelhak; V Kalatzis; Roland Heilig; S Compain; D Samson; C Vincent; Dominique Weil; Corinne Cruaud; I Sahly; Michel Leibovici; Maria Bitner-Glindzicz; M Francis; Didier Lacombe; J Vigneron; R Charachon; K Boven; P Bedbeder; N Van Regemorter; Jean Weissenbach; Christine Petit
A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family.
Nature genetics 1997;15(2):157-64.
1997: A Boulila-Elgaïed; Saber Masmoudi; Mohamed Drira; M Gouia; Hassan Chaib; Christine Petit; Hammadi Ayadi
Contribution of DFNB1 and DFNB2 loci to neurosensory deafness in affected Tunisian families.
Archives de l'Institut Pasteur de Tunis 1997;74(1-2):5-8.
1997: G Lévy; F Levi-Acobas; Stéphane Blanchard; S Gerber; D Larget-Piet; V Chenal; Xue Zhong Liu; VE Newton; Karen P Steel; Steve D M Brown; Arnold Munnich; J Kaplan; Christine Petit; Dominique Weil
Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB.
Human molecular genetics 1997;6(1):111-6.
1997: H Chaïb; J Kaplan; S Gerber; C Vincent; Hammadi Ayadi; R Slim; Arnold Munnich; Jean Weissenbach; Christine Petit
A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21.
Human molecular genetics 1997;6(1):27-31.
1996: Christine Petit
Genes responsible for human hereditary deafness: symphony of a thousand.
Nature genetics 1996;14(4):385-91.
1996: Aziz El-Amraoui; I Sahly; S Picaud; J Sahel; marc Mordekhaï ABITBOL; Christine Petit
Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells.
Human molecular genetics 1996;5(8):1171-8.
1996: Nadia Soussi-Yanicostas; Jean-Pierre Hardelin; M M Arroyo-Jimenez; O Ardouin; R Legouis; Jacqueline Levilliers; François Traincard; Jean-Michel Betton; L Cabanié; Christine Petit
Initial characterization of anosmin-1, a putative extracellular matrix protein synthesized by definite neuronal cell populations in the central nervous system.
Journal of cell science 1996;109 ( Pt 7)():1749-57.
1996: Hassan Chaib; C Place; Nabiha Salem; Catherine Dodé; Sébastien Chardenoux; Jean Weissenbach; E El-Zir; Jacques Loiselet; Christine Petit
Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22.
Human molecular genetics 1996;5(7):1061-4.
1996: V Kalatzis; S Abdelhak; S Compain; C Vincent; Christine Petit
Characterization of a translocation-associated deletion defines the candidate region for the gene responsible for branchio-oto-renal syndrome.
Genomics 1996;34(3):422-5.
1996: Dominique Weil; G Levy; I Sahly; F Levi-Acobas; Stéphane Blanchard; Aziz El-Amraoui; F Crozet; H Philippe; marc Mordekhaï ABITBOL; Christine Petit
Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia.
Proceedings of the National Academy of Sciences of the United States of America 1996;93(8):3232-7.
1996: Marlene Schwanzel-Fukuda; Kathryn L Crossin; Donald Pfaff; P M Bouloux; Jean-Pierre Hardelin; Christine Petit
Migration of luteinizing hormone-releasing hormone (LHRH) neurons in early human embryos.
The Journal of comparative neurology 1996;366(3):547-57.
1996: Christine Petit
[Molecular bases of neurosensory deficits in man].
Annales de médecine interne 1996;147(6):449-52.
1996: H Chaïb; C Place; Nabiha Salem; Sébastien Chardenoux; C Vincent; Jean Weissenbach; E El-Zir; Jacques Loiselet; Christine Petit
A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-23.
Human molecular genetics 1996;5(1):155-8.
1995: Martine Cohen-Salmon; F Tronche; I del Castillo; Christine Petit
Characterization of the promoter of the human KAL gene, responsible for the X-chromosome-linked Kallmann syndrome.
Gene 1995;164(2):235-42.
1995: I Wang; Dominique Weil; Jacqueline Levilliers; Nabeel A Affara; ALBERT DE LA CHAPELLE; Christine Petit
Prevalence and molecular analysis of two hot spots for ectopic recombination leading to XX maleness.
Genomics 1995;28(1):52-8.
1995: Jean-Pierre Hardelin; Christine Petit
A molecular approach to the pathophysiology of the X chromosome-linked Kallmann's syndrome.
Baillière's clinical endocrinology and metabolism 1995;9(3):489-507.
1994: R Legouis; Jean-Pierre Hardelin; Christine Petit; C Ayer-Le Lièvre
Early expression of the KAL gene during embryonic development of the chick.
Anatomy and embryology 1994;190(6):549-62.
1994: H Chaïb; Geneviève Lina-Granade; P Guilford; H Plauchu; Jacqueline Levilliers; A Morgon; Christine Petit
A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval.
Human molecular genetics 1994;3(12):2219-22.
1994: Dominique Weil; I Wang; A Dietrich; A Poustka; Jean Weissenbach; Christine Petit
Highly homologous loci on the X and Y chromosomes are hot-spots for ectopic recombinations leading to XX maleness.
Nature genetics 1994;7(3):414-9.
1994: P Guilford; Hammadi Ayadi; Stéphane Blanchard; Hassan Chaib; D Le Paslier; Jean Weissenbach; Mohamed Drira; Christine Petit
A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene.
Human molecular genetics 1994;3(6):989-93.
1994: P Guilford; S Ben Arab; Stéphane Blanchard; Jacqueline Levilliers; Jean Weissenbach; A Belkahia; Christine Petit
A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q.
Nature genetics 1994;6(1):24-8.
1994: R Legouis; Martine Cohen-Salmon; I Del Castillo; Christine Petit
Isolation and characterization of the gene responsible for the X chromosome-linked Kallmann syndrome.
Biomedicine & pharmacotherapy = Biomédecine & pharmacothérapie 1994;48(5-6):241-6.
1993: Dominique Weil; Marie-France Portnoï; Jacqueline Levilliers; I Wang; M Mathieu; Jean-Louis Taillemite; M Meier; B Boudailliez; Christine Petit
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.
Human molecular genetics 1993;2(11):1853-6.
1993: R Legouis; Martine Cohen-Salmon; I del Castillo; Jacqueline Levilliers; L Capy; J P Mornow; Christine Petit
Characterization of the chicken and quail homologues of the human gene responsible for the X-linked Kallmann syndrome.
Genomics 1993;17(2):516-8.
1993: Nadia Soussi-Yanicostas; Robert Whalen; Christine Petit
Five skeletal myosin heavy chain genes are organized as a multigene complex in the human genome.
Human molecular genetics 1993;2(5):563-9.
1993: Jean-Pierre Hardelin; Jacqueline Levilliers; Stéphane Blanchard; J C Carel; M Leutenegger; J P Pinard-Bertelletto; Pierre Bouloux; Christine Petit
Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome.
Human molecular genetics 1993;2(4):373-7.
1993: R Slim; Jacqueline Levilliers; Hermann-Josef Lüdecke; Uwe Claussen; V C Nguyen; N M Gough; B Horsthemke; Christine Petit
A human pseudoautosomal gene encodes the ANT3 ADP/ATP translocase and escapes X-inactivation.
Genomics 1993;16(1):26-33.
1993: Jean-Pierre Hardelin; Jacqueline Levilliers; J Young; M Pholsena; R Legouis; J Kirk; Pierre Bouloux; Christine Petit; G Schaison
Xp22.3 deletions in isolated familial Kallmann's syndrome.
The Journal of clinical endocrinology and metabolism 1993;76(4):827-31.
1993: R Legouis; C A Lievre; Michel Leibovici; Françoise Lapointe; Christine Petit
Expression of the KAL gene in multiple neuronal sites during chicken development.
Proceedings of the National Academy of Sciences of the United States of America 1993;90(6):2461-5.
1993: J M Claverie; Jean-Pierre Hardelin; R Legouis; Jacqueline Levilliers; Lydie Bougueleret; M G Mattei; Christine Petit
Characterization and chromosomal assignment of a human cDNA encoding a protein related to the murine 102-kDa cadherin-associated protein (alpha-catenin).
Genomics 1993;15(1):13-20.
1992: I del Castillo; Martine Cohen-Salmon; Stéphane Blanchard; G Lutfalla; Christine Petit
Structure of the X-linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome.
Nature genetics 1992;2(4):305-10.
1990: Christine Petit; J Melki; Jacqueline Levilliers; F Serville; Jean Weissenbach; P Maroteaux
An interstitial deletion in Xp22.3 in a family with X-linked recessive chondrodysplasia punctata and short stature.
Human genetics 1990;85(2):247-50.
1990: Christine Petit; Jacqueline Levilliers; Jean Weissenbach
Long-range restriction map of the terminal part of the short arm of the human X chromosome.
Proceedings of the National Academy of Sciences of the United States of America 1990;87(10):3680-4.
1990: Christine Petit; Jacqueline Levilliers; F Rouyer; M C Simmler; E Herouin; Jean Weissenbach
Isolation of sequences from Xp22.3 and deletion mapping using sex chromosome rearrangements from human X-Y interchange sex reversals.
Genomics 1990;6(4):651-8.
1988: Christine Petit; Jacqueline Levilliers; Jean Weissenbach
Physical mapping of the human pseudo-autosomal region; comparison with genetic linkage map.
The EMBO journal 1988;7(8):2369-76.
1987: M C Simmler; C Johnsson; Christine Petit; F Rouyer; Gilles Vergnaud; Jean Weissenbach
Two highly polymorphic minisatellites from the pseudoautosomal region of the human sex chromosomes.
The EMBO journal 1987;6(4):963-9.
1987: Jean Weissenbach; Jacqueline Levilliers; Christine Petit; F Rouyer; M C Simmler
Normal and abnormal interchanges between the human X and Y chromosomes.
Development (Cambridge, England) 1987;101 Suppl():67-74.
1986: F Rouyer; M C Simmler; Gilles Vergnaud; C Johnsson; Jacqueline Levilliers; Christine Petit; Jean Weissenbach
The pseudoautosomal region of the human sex chromosomes.
Cold Spring Harbor symposia on quantitative biology 1986;51 Pt 1():221-8.