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1

Nonsyndromic 35 delG Mutation of the Connexin 26 Gene Associated With Deafness in Syndromic Children: Two Case Reports

Frédéric Venail, Anne-Françoise Roux, Nathalie Pallares-Ruiz, Mireille Claustres, Patricia Blanchet, Quentin Gardiner, Michel Mondain

Journal:

The Laryngoscope

Year:

2004

Language:

english

File:

PDF, 89 KB

english, 2004

2

Prevalence and features of osteoporosis in the French general population: The Instant study

Éric Lespessailles, François-Emery Cotté, Christian Roux, Patrice Fardellone, Florence Mercier, Anne-Françoise Gaudin

Journal:

Joint Bone Spine

Year:

2009

Language:

english

File:

PDF, 239 KB

english, 2009

3

A Classification Model Relative to Splicing for Variants of Unknown Clinical Significance: Application to the CFTR Gene

Raynal, Caroline, Baux, David, Theze, Corinne, Bareil, Corinne, Taulan, Magali, Roux, Anne-Françoise, Claustres, Mireille, Tuffery-Giraud, Sylvie, des Georges, Marie

Journal:

Year:

2013

Language:

english

File:

PDF, 492 KB

english, 2013

4

Targeted next generation sequencing for molecular diagnosis of Usher syndrome

Aparisi, María J, Aller, Elena, Fuster-García, Carla, García-García, Gema, Rodrigo, Regina, Vázquez-Manrique, Rafael P, Blanco-Kelly, Fiona, Ayuso, Carmen, Roux, Anne-Françoise, Jaijo, Teresa, Millán,

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 605 KB

english, 2014

5

The effect of PTC124 on choroideremia fibroblasts and iPSC-derived RPE raises considerations for therapy

Torriano, Simona, Erkilic, Nejla, Baux, David, Cereso, Nicolas, De Luca, Valerie, Meunier, Isabelle, Moosajee, Mariya, Roux, Anne-Francoise, Hamel, Christian P., Kalatzis, Vasiliki

Journal:

Scientific Reports

Year:

2018

Language:

english

File:

PDF, 2.83 MB

english, 2018

6

UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes

David Baux, Valérie Faugère, Lise Larrieu, Sandie Le Guédard-Méreuze, Dalil Hamroun, Christophe Béroud, Sue Malcolm, Mireille Claustres, Anne-Françoise Roux

Journal:

Year:

2008

Language:

english

File:

PDF, 270 KB

english, 2008

7

Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sites

Sandie Le Guédard-Méreuze, Christel Vaché, Nicolas Molinari, Julie Vaudaine, Mireille Claustres, Anne-Françoise Roux, Sylvie Tuffery-Giraud

Journal:

Year:

2009

Language:

english

File:

PDF, 521 KB

english, 2009

8

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes

Sandie Le Guédard-Méreuze, Christel Vaché, David Baux, Valérie Faugère, Lise Larrieu, Caroline Abadie, Andreas Janecke, Mireille Claustres, Anne-Françoise Roux, Sylvie Tuffery-Giraud

Journal:

Year:

2010

Language:

english

File:

PDF, 311 KB

english, 2010

9

Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome

Christel Vaché, Thomas Besnard, Catherine Blanchet, David Baux, Lise Larrieu, Valérie Faugère, Michel Mondain, Christian Hamel, Sue Malcolm, Mireille Claustres, Anne-Françoise Roux

Journal:

Year:

2010

Language:

english

File:

PDF, 431 KB

english, 2010

10

Modélisation de l’impact de santé publique d’une meilleure persistance au traitement de l’ostéoporose post-ménopausique en France

François-Emery Cotté, Bernard Cortet, Antoine Lafuma, Bernard Avouac, Abdelkader El Hasnaoui, Patrice Fardellone, Denis Pouchain, Christian Roux, Anne-Françoise Gaudin

Journal:

Revue du Rhumatisme

Year:

2008

Language:

french

File:

PDF, 433 KB

french, 2008

11

Prévalence des facteurs de risque référants pour l’indication d’une densitométrie osseuse chez les femmes postménopausées. L’étude INSTANT

Christian Roux, Patrice Fardellone, Eric Lespessailles, François-Emery Cotté, Florence Mercier, Anne-Françoise Gaudin

Journal:

Revue du Rhumatisme

Year:

2008

Language:

french

File:

PDF, 151 KB

french, 2008

12

Prévalence et caractéristiques de l’ostéoporose dans la population générale en France : l’étude Instant

Éric Lespessailles, François-Emery Cotté, Christian Roux, Patrice Fardellone, Florence Mercier, Anne-Françoise Gaudin

Journal:

Revue du Rhumatisme

Year:

2009

Language:

french

File:

PDF, 264 KB

french, 2009

13

Apport de calcium et risque d’ostéoporose et de fractures chez les femmes françaises

Patrice Fardellone, François-Emery Cotté, Christian Roux, Éric Lespessailles, Florence Mercier, Anne-Françoise Gaudin

Journal:

Revue du Rhumatisme

Year:

2010

Language:

french

File:

PDF, 353 KB

french, 2010

14

First molecular screening of deafness in the Altai Republic population

Olga Posukh, Nathalie Pallares-Ruiz, Vera Tadinova, Ludmila Osipova, Mireille Claustres, Anne-Françoise Roux

Journal:

BMC Medical Genetics

Year:

2005

Language:

english

File:

PDF, 530 KB

english, 2005

15

Molecular epidemiology of DFNB1 deafness in France

Anne-Françoise Roux, Nathalie Pallares-Ruiz, Anne Vielle, Valérie Faugère, Carine Templin, Dorothée Leprevost, Françoise Artières, Geneviève Lina, Nicolas Molinari, Patricia Blanchet, Michel Mondain,

Journal:

BMC Medical Genetics

Year:

2004

Language:

english

File:

PDF, 579 KB

english, 2004

16

The USH2A c.2299delG mutation: dating its common origin in a Southern European population

Aller, Elena, Larrieu, Lise, Jaijo, Teresa, Baux, David, Espinós, Carmen, González-Candelas, Fernando, Nájera, Carmen, Palau, Francesc, Claustres, Mireille, Roux, Anne-Françoise

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 331 KB

english, 2010

17

A model of the public health impact of improved treatment persistence in post-menopausal osteoporosis in France

François-Emery Cotté, Bernard Cortet, Antoine Lafuma, Bernard Avouac, Abdelkader El Hasnaoui, Patrice Fardellone, Denis Pouchain, Christian Roux, Anne-Françoise Gaudin

Journal:

Joint Bone Spine

Year:

2008

Language:

english

File:

PDF, 259 KB

english, 2008

18

Prevalence of risk factors for referring post-menopausal women for bone densitometry. The INSTANT study

Christian Roux, Patrice Fardellone, Eric Lespessailles, François-Emery Cotté, Florence Mercier, Anne-Françoise Gaudin

Journal:

Joint Bone Spine

Year:

2008

Language:

english

File:

PDF, 202 KB

english, 2008

19

“A model of the public health impact of improved treatment persistence in post-menopausal osteoporosis in France” [Joint Bone Spine 2008;75(same issue)]

François-Emery Cotté, Bernard Cortet, Antoine Lafuma, Bernard Avouac, Abdelkader El Hasnaoui, Patrice Fardellone, Denis Pouchain, Christian Roux, Anne-Françoise Gaudin

Journal:

Joint Bone Spine

Year:

2008

Language:

english

File:

PDF, 100 KB

english, 2008

20

Calcium intake and the risk of osteoporosis and fractures in French women

Patrice Fardellone, François-Emery Cotté, Christian Roux, Eric Lespessailles, Florence Mercier, Anne-Françoise Gaudin

Journal:

Joint Bone Spine

Year:

2010

Language:

english

File:

PDF, 321 KB

english, 2010

21

Physical and Transcription Map in the Region 14q24.3: Identification of Six Novel Transcripts

Anne-Françoise Roux, Johanna M. Rommens, Lynn Read, Alessandra M.V. Duncan, Diane W. Cox

Journal:

Year:

1997

Language:

english

File:

PDF, 2.08 MB

english, 1997

22

Molecular screening of deafness in Algeria: High genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F

Fatima Ammar-Khodja, Valérie Faugère, David Baux, Claire Giannesini, Susana Léonard, Mohamed Makrelouf, Rahia Malek, Djamel Djennaoui, Akila Zenati, Mireille Claustres, Anne-Françoise Roux

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 385 KB

english, 2009

23

EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus

Hoefsloot, Lies H, Roux, Anne-Françoise, Bitner-Glindzicz, Maria

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 336 KB

english, 2013

24

Relative Frequencies of Inherited Retinal Dystrophies and Optic Neuropathies in Southern France: Assessment of 21-year Data Management

Bocquet, Beatrice, Lacroux, Annie, Surget, Marie-Odile, Baudoin, Corinne, Marquette, Virginie, Manes, Gael, Hebrard, Maxime, Sénéchal, Audrey, Delettre, Cecile, Roux, Anne-Francoise, Claustres, Mireil

Journal:

Ophthalmic Epidemiology

Year:

2013

Language:

english

File:

PDF, 1.15 MB

english, 2013

25

Evaluation of dHPLC for CX26 Mutation Screening in Patients from Southern France with Sensorineural Deafness

Pallares-Ruiz, Nathalie, Blanchet, Patricia, Mondain, Michel, Low-Hong, Sabine, Demaille, Jacques, Claustres, Mireille, Roux, Anne-Francoise

Journal:

Genetic Testing

Year:

2001

Language:

english

File:

PDF, 139 KB

english, 2001

26

Experience of targeted Usher exome sequencing as a clinical test

Besnard, Thomas, García-García, Gema, Baux, David, Vaché, Christel, Faugère, Valérie, Larrieu, Lise, Léonard, Susana, Millan, Jose M., Malcolm, Sue, Claustres, Mireille, Roux, Anne-Françoise

Journal:

Molecular Genetics & Genomic Medicine

Year:

2014

Language:

english

File:

PDF, 927 KB

english, 2014

27

Four-Year Follow-up of Diagnostic Service in USH1 Patients

Roux, Anne-Françoise, Faugère, Valérie, Vaché, Christel, Baux, David, Besnard, Thomas, Léonard, Susana, Blanchet, Catherine, Hamel, Christian, Mondain, Michel, Gilbert-Dussardier, Brigitte, Edery, Pat

Journal:

Investigative Ophthalmology & Visual Science

Year:

2011

Language:

english

File:

PDF, 548 KB

english, 2011

28

Dinucleotide repeat polymorphism near the RP3 locus in Xp21 (DXS1110)

Roux, Anne-Françoise, Yuan, Chu Chin, Rommens, Johanna M., Musarella, Maria A.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 104 KB

english, 1993

29

Clinical utility gene card for: Usher syndrome

Bolz, Hanno J, Roux, Anne-Françoise

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 185 KB

english, 2011

30

A heat shock gene at 14q22: mapping and expression

Roux, Anne-Françoise, Nguyen, T.T. Van, Squire, Jeremy A., Cox, Diane W.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.42 MB

english, 1994

31

A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

Pallares-Ruiz, Nathalie, Blanchet, Patricia, Mondain, Michel, Claustres, Mireille, Roux, Anne-Francoise

Journal:

European Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 118 KB

english, 2002

32

Clinical Evaluation and Cone Alterations in Choroideremia

Nabholz, Nicolas, Lorenzini, Marie-Céline, Bocquet, Béatrice, Lacroux, Annie, Faugère, Valérie, Roux, Anne-Françoise, Kalatzis, Vasiliki, Meunier, Isabelle, Hamel, Christian P.

Journal:

Year:

2016

Language:

english

File:

PDF, 372 KB

english, 2016

33

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

den Dunnen, Johan T., Dalgleish, Raymond, Maglott, Donna R., Hart, Reece K., Greenblatt, Marc S., McGowan-Jordan, Jean, Roux, Anne-Francoise, Smith, Timothy, Antonarakis, Stylianos E., Taschner, Peter

Journal:

Year:

2016

Language:

english

File:

PDF, 182 KB

english, 2016

34

Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations

Liquori, Alessandro, Vaché, Christel, Baux, David, Blanchet, Catherine, Hamel, Christian, Malcolm, Sue, Koenig, Michel, Claustres, Mireille, Roux, Anne-Françoise

Journal:

Year:

2016

Language:

english

File:

PDF, 1.23 MB

english, 2016

35

Usher syndrome in Denmark: mutation spectrum and some clinical observations

Dad, Shzeena, Rendtorff, Nanna Dahl, Tranebjaerg, Lisbeth, Grønskov, Karen, Karstensen, Helena Gásdal, Brox, Vigdis, Nilssen, Øivind, Roux, Anne-Françoise, Rosenberg, Thomas, Jensen, Hanne, Møller, Li

Journal:

Molecular Genetics & Genomic Medicine

Year:

2016

Language:

english

File:

PDF, 303 KB

english, 2016

36

Assessment of the latest NGS enrichment capture methods in clinical context

García-García, Gema, Baux, David, Faugère, Valérie, Moclyn, Mélody, Koenig, Michel, Claustres, Mireille, Roux, Anne-Françoise

Journal:

Scientific Reports

Year:

2016

Language:

english

File:

PDF, 858 KB

english, 2016

37

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

Ebermann, Inga, Phillips, Jennifer B, Liebau, Max C, Koenekoop, Robert K, Schermer, Bernhard, Lopez, Irma, Schäfer, Ellen, Roux, Anne-francoise, Dafinger, Claudia, Bernd, Antje, Zrenner, Eberhart, Cla

Journal:

Journal of Clinical Investigation

Year:

2010

Language:

english

File:

PDF, 3.31 MB

english, 2010

38

Rational Hydrogel Formulation Leads to Reversible and Enhanced Photocontrolled Rigidity

Mingotaud, Anne-Françoise, Royes Mir, Jorge, Coudret, Christophe, Roux, Clément, Benoit-Marquié, Florence, Cazalès, Martine, Séverac, Childerick, Lorenzo, Corinne

Journal:

Year:

2017

Language:

english

File:

PDF, 1.65 MB

english, 2017

39

Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapy

Torriano, Simona, Erkilic, Nejla, Faugère, Valérie, Damodar, Krishna, Hamel, Christian P., Roux, Anne-Francoise, Kalatzis, Vasiliki

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 1.32 MB

english, 2017

40

Extended photo-induced endosome-like structures in Giant Vesicles promoted by block-copolymer nanocarriers

Montis, Costanza, Till, Ugo, Vicendo, Patricia, Roux, Clément Louis, Mingotaud, Anne-Françoise, Violleau, F., Demazeau, Maxime, Berti, Debora, Lonetti, Barbara

Journal:

Year:

2018

Language:

english

File:

PDF, 1.13 MB

english, 2018

41

Caractérisation de la diversité d’une population de vignes sauvages du Pic Saint-Loup (Hérault) et relations avec le compartiment cultivé; Characterization of genetic diversity in a population of wild grapes from Pic Saint Loup area and it’s relationship with the cultivated grapes;

This, Patrice, Roux, Catherine, Parra, Pierre, Siret, René, Bourse, Thibaut, Adam, Anne-Françoise, Yvon, Michel, Lacombe, Thierry, David, Jacques, Boursiquot, Jean-Michel

Journal:

Genetics Selection Evolution

Year:

2001

Language:

english

File:

PDF, 1.61 MB

english, 2001

42

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

Khateb, Samer, Mohand-Saïd, Saddek, Nassisi, Marco, Bonnet, Crystel, Roux, Anne-Françoise, Andrieu, Camille, Antonio, Aline, Condroyer, Christel, Zeitz, Christina, Devisme, Céline, Loundon, Natalie, M

Journal:

Year:

2019

File:

PDF, 727 KB

2019

43

Rational design of block copolymer self-assemblies in photodynamic therapy

Demazeau, Maxime, Gibot, Laure, Mingotaud, Anne-Françoise, Vicendo, Patricia, Roux, Clément, Lonetti, Barbara

Journal:

Beilstein Journal of Nanotechnology

Year:

2020

File:

PDF, 13.01 MB

2020