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Catherine Ozilou

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Lekbir Baala; Stephane Romano; Rana Khaddour; Sophie Saunier; Ursula M Smith; Sophie Audollent; Catherine Ozilou; Laurence Faivre; Nicole Laurent; Bernard Foliguet; Arnold Munnich; Stanislas LYONNET; Rémi Salomon; Férechté Encha-Razavi; Marie-Claire Gubler; Nathalie Boddaert; Pascale de Lonlay; Colin A Johnson; Michel Vekemans; Corinne Antignac; Tania Attie-Bitach
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.
Christelle Golzio; Jessica Guirchoun; Catherine Ozilou; Sophie Thomas; Géraldine Goudefroye; Nicole Morichon-Delvallez; Michel Vekemans; Tania Attié-Bitach; Heather C Etchevers
Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy.
Damien Sanlaville; Heather C Etchevers; Marie Gonzales; Jelena Martinovic; Mathieu Clément-Ziza; Anne-Lise Delezoide; Marie-Cécile Aubry; Anna Pelet; S Chemouny; Corinne Cruaud; Sophie Audollent; Chantal Esculpavit; Géraldine Goudefroye; Catherine Ozilou; Catherine Fredouille; Nicole Joye; Nicole Morichon-Delvallez; Yves Dumez; Jean Weissenbach; Arnold Munnich; Jeanne Amiel; Férechté Encha-Razavi; Stanislas LYONNET; Michel Vekemans; Tania Attié-Bitach
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.

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All Publications

2007: Lekbir Baala; Stephane Romano; Rana Khaddour; Sophie Saunier; Ursula M Smith; Sophie Audollent; Catherine Ozilou; Laurence Faivre; Nicole Laurent; Bernard Foliguet; Arnold Munnich; Stanislas LYONNET; Rémi Salomon; Férechté Encha-Razavi; Marie-Claire Gubler; Nathalie Boddaert; Pascale de Lonlay; Colin A Johnson; Michel Vekemans; Corinne Antignac; Tania Attie-Bitach
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.
American journal of human genetics 2007;80(1):186-94.
2006: Christelle Golzio; Jessica Guirchoun; Catherine Ozilou; Sophie Thomas; Géraldine Goudefroye; Nicole Morichon-Delvallez; Michel Vekemans; Tania Attié-Bitach; Heather C Etchevers
Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy.
Prenatal diagnosis 2006;26(13):1201-5.
2006: Damien Sanlaville; Heather C Etchevers; Marie Gonzales; Jelena Martinovic; Mathieu Clément-Ziza; Anne-Lise Delezoide; Marie-Cécile Aubry; Anna Pelet; S Chemouny; Corinne Cruaud; Sophie Audollent; Chantal Esculpavit; Géraldine Goudefroye; Catherine Ozilou; Catherine Fredouille; Nicole Joye; Nicole Morichon-Delvallez; Yves Dumez; Jean Weissenbach; Arnold Munnich; Jeanne Amiel; Férechté Encha-Razavi; Stanislas LYONNET; Michel Vekemans; Tania Attié-Bitach
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.
Journal of medical genetics 2006;43(3):211-217.
2005: David Geneviève; Damien Sanlaville; Laurence Faivre; Marie-Laure Kottler; Marguerite Jambou; Philippe Gosset; Dinane Boustani-Samara; Graziella Pinto; Catherine Ozilou; Geneviève Abeguilé; Arnold Munnich; Serge Romana; Odile Raoul; Valérie Cormier-Daire; Michel Vekemans
Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties.
European journal of human genetics : EJHG 2005;13(9):1033-9.
2005: Damien Sanlaville; Marguerite Prieur; Marie-Christine De Blois; David Genevieve; Jean-Michel Lapierre; Catherine Ozilou; Monique Picq; Philippe Gosset; Nicole Morichon-Delvallez; Arnold Munnich; Valérie Cormier-Daire; Geneviève Baujat; Serge Romana; Michel Vekemans; Catherine Turleau
Functional disomy of the Xq28 chromosome region.
European journal of human genetics : EJHG 2005;13(5):579-85.
2005: Houda Karmous-Benailly; Jelena Martinovic; Marie-Claire Gubler; Yoann Sirot; Laure Clech; Catherine Ozilou; Joëlle Auge; Nora Brahimi; Heather C Etchevers; Eric Detrait; Chantal Esculpavit; Sophie Audollent; Géraldine Goudefroye; Marie Gonzales; Julia Tantau; Philippe Loget; Madeleine Joubert; Dominique Gaillard; Corinne Jeanne-Pasquier; Anne-Lise Delezoide; Marie-Odile Peter; Ghislaine Plessis; Brigitte Simon-Bouy; Hélène Dollfus; Martine Le Merrer; Arnold Munnich; Férechté Encha-Razavi; Michel Vekemans; Tania Attié-Bitach
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.
American journal of human genetics 2005;76(3):493-504.
2004: Jean-Michel Lapierre; Damien Sanlaville; J Kang; Catherine Ozilou; Marc Le Lorc'h; Marie-Christine Perrier Waill; Marguerite Prieur; Laurence Colleaux; Arnold Munnich; Catherine Turleau; Moncef Benkhalifa; M Mohammed; Michel Vekemans; Serge Romana
[A preliminary study to assess the value of the DNA chips SpectralChip to detect subtle constitutional chromosome imbalances].
Annales de biologie clinique 2004;62(2):203-12.
2002: Sophie Brisset; G Joly; Catherine Ozilou; Jean-Michel Lapierre; Philippe Gosset; M LeLorc'h; Odile Raoul; Catherine Turleau; Michel Vekemans; Serge Romana
Molecular characterization of partial trisomy 16q24.1-qter: clinical report and review of the literature.
American journal of medical genetics 2002;113(4):339-45.
2002: Marlène Rio; Florence Molinari; Solange Heuertz; Catherine Ozilou; Philippe Gosset; Odile Raoul; Valérie Cormier-Daire; Jeanne Amiel; Stanislas LYONNET; Martine Le Merrer; Catherine Turleau; Marie-Christine De Blois; Marguerite Prieur; Serge Romana; Michel Vekemans; Arnold Munnich; Laurence Colleaux
Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.
Journal of medical genetics 2002;39(4):266-70.
2002: Damien Sanlaville; Serge Romana; Jean-Michel Lapierre; Jeanne Amiel; David Genevieve; Catherine Ozilou; M Le Lorch; Sophie Brisset; Philippe Gosset; Clarisse Baumann; Catherine Turleau; Stanislas LYONNET; Michel Vekemans
A CGH study of 27 patients with CHARGE association.
Clinical genetics 2002;61(2):135-8.
2001: G Joly; Jean-Michel Lapierre; Catherine Ozilou; Philippe Gosset; A Aurias; Marie-Christine De Blois; Marguerite Prieur; Odile Raoul; Laurence Colleaux; Arnold Munnich; Serge Romana; Michel Vekemans; Catherine Turleau
Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype.
Clinical genetics 2001;60(3):212-9.
2001: Marlène Rio; Catherine Ozilou; Valérie Cormier-Daire; Catherine Turleau; Marguerite Prieur; Michel Vekemans; P Chauveau; Arnold Munnich; Laurence Colleaux
Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation.
Human genetics 2001;108(6):511-5.
2001: Laurence Colleaux; Marlène Rio; Solange Heuertz; S Moindrault; Catherine Turleau; Catherine Ozilou; Philippe Gosset; O Raoult; Stanislas LYONNET; Valérie Cormier-Daire; Jeanne Amiel; Martine Le Merrer; Monique Picq; Marie-Christine De Blois; Marguerite Prieur; Serge Romana; F Cornelis; Michel Vekemans; Arnold Munnich
A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation.
European journal of human genetics : EJHG 2001;9(5):319-27.
2001: Serge Romana; Philippe Gosset; Hatem Elghezal; Marc Le Lorc'h; Catherine Ozilou; Jean-Michel Lapierre; Damien Sanlaville; Sophie Brisset; Catherine Turleau; Michel Vekemans
[Value of molecular cytogenetics in pre- and postnatal diagnostic of chromosome abnormalities].
Journal de gynécologie, obstétrique et biologie de la reproduction 2001;30(1 Suppl):75-9.
2000: Sandra Fert-Ferrer; Agnès Guichet; Julia Tantau; Anne-Lise Delezoide; Catherine Ozilou; Serge Romana; Philippe Gosset; Géraldine Viot; S Loison; Claude Moraine; Nicole Morichon-Delvallez; Catherine Turleau; Michel Vekemans; Marguerite Prieur
Subtle familial unbalanced translocation t(8;11)(p23.2;p15.5) in two fetuses with Beckwith-Wiedemann features.
Prenatal diagnosis 2000;20(6):511-5.