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1

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations

Marc Ferré, Dominique Bonneau, Dan Milea, Arnaud Chevrollier, Christophe Verny, Hélène Dollfus, Carmen Ayuso, Sabine Defoort, Catherine Vignal, Xavier Zanlonghi, Jean-Francois Charlin, Josseline Kapla

Journal:

Year:

2009

File:

PDF, 1.13 MB

2009

2

OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database

Le Roux, Bastien, Lenaers, Guy, Zanlonghi, Xavier, Amati-Bonneau, Patrizia, Chabrun, Floris, Foulonneau, Thomas, Caignard, Angélique, Leruez, Stéphanie, Gohier, Philippe, Procaccio, Vincent, Milea, Da

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 2.02 MB

english, 2019

3

OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database

Le Roux, Bastien, Lenaers, Guy, Zanlonghi, Xavier, Amati-Bonneau, Patrizia, Chabrun, Floris, Foulonneau, Thomas, Caignard, Angélique, Leruez, Stéphanie, Gohier, Philippe, Procaccio, Vincent, Milea, Da

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

File:

PDF, 2.02 MB

2019

4

Genetic analysis of new French X-linked juvenile retinoschisis kindreds using microsatellite markers closely linked to the RS locus: further narrowing of the RS candidate region

Viviane Dumur, Elisabeth Trivier, Bernard Puech, Frédéric Peugnet, Xavier Zanlonghi, Jean Claude Hache, André Hanauer

Journal:

Year:

1995

Language:

english

File:

PDF, 316 KB

english, 1995

5

Novel KCNV2 Mutations in Cone Dystrophy with Supernormal Rod Electroretinogram

Safouane Ben Salah, Satomi Kamei, Audrey Sénéćhal, Séverine Lopez, Christian Bazalgette, Cécile Bazalgette, Claudie Malrieu Eliaou, Xavier Zanlonghi, Christian P. Hamel

Journal:

American Journal of Ophthalmology

Year:

2008

Language:

english

File:

PDF, 1.21 MB

english, 2008

6

Extensive Macular Atrophy with Pseudodrusen-like Appearance: A New Clinical Entity

Christian P. Hamel, Isabelle Meunier, Carl Arndt, Safouane Ben Salah, Séverine Lopez, Christian Bazalgette, Cécile Bazalgette, Xavier Zanlonghi, Bernard Arnaud, Sabine Defoort-Dellhemmes, Bernard Puec

Journal:

American Journal of Ophthalmology

Year:

2009

Language:

english

File:

PDF, 3.62 MB

english, 2009

7

Reply

Christian P. Hamel, Isabelle Meunier, Carl Arndt, Xavier Zanlonghi, Sabine Defoort-Dhellemmes, Bernard Puech

Journal:

American Journal of Ophthalmology

Year:

2009

Language:

english

File:

PDF, 96 KB

english, 2009

8

La rétinopathie liée aux antipaludéens de synthèse reste une menace d’actualité

Anne Chiffoleau, Aurélie Guillet, Xavier Zanlonghi, Pascale Jolliet

Journal:

La Presse Médicale

Year:

2009

Language:

french

File:

PDF, 74 KB

french, 2009

9

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

Perrault, Isabelle, Hanein, Sylvain, Zanlonghi, Xavier, Serre, Valérie, Nicouleau, Michael, Defoort-Delhemmes, Sabine, Delphin, Nathalie, Fares-Taie, Lucas, Gerber, Sylvie, Xerri, Olivia, Edelson, Cat

Journal:

Nature Genetics

Year:

2012

Language:

english

File:

PDF, 352 KB

english, 2012

10

Surveillance ophtalmologique de la prise des antipaludéens de synthèse au long cours : mise au point et conduite à tenir à partir de 2003

Rigaudière, F., Ingster-Moati, I., Hache, J.-C., Leid, J., Verdet, R., Haymann, P., Rigolet, M.-H., Zanlonghi, X., Defoort, S., Le Gargasson, J.-F.

Journal:

Journal Français d'Ophtalmologie

Year:

2004

File:

PDF, 103 KB

2004

11

Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus

Ghoumid, Jamal, Andrieux, Joris, Sablonnière, Bernard, Odent, Sylvie, Philippe, Nathalie, Zanlonghi, Xavier, Saugier-Veber, Pascale, Bardyn, Thomas, Manouvrier-Hanu, Sylvie, Holder-Espinasse, Muriel

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 391 KB

english, 2011

12

197 Réseau de santé et basse vision

Journal:

Journal Français d'Ophtalmologie

Year:

2005

Language:

french

File:

PDF, 1016 KB

french, 2005

13

Comparison of Prednisolone and Topical Indomethacin in Post-Operative Inflammation

Sourdille, P., Zanlonghi, X., Bron, V., Allaire, C., Trinquand, C.

Journal:

European journal of Implant and Refractive Surgery

Year:

1993

Language:

english

File:

PDF, 3.04 MB

english, 1993

14

5116738 DNA sequences encoding

Sourdille, P., Zanlonghi, X., Bron, V., Allaire, C., Trinquand, C.

Journal:

Biotechnology Advances

Year:

1992

Language:

english

File:

PDF, 74 KB

english, 1992

15

Mutations in IMPG1 Cause Vitelliform Macular Dystrophies

Manes, Gaël, Meunier, Isabelle, Avila-Fernández, Almudena, Banfi, Sandro, Le Meur, Guylène, Zanlonghi, Xavier, Corton, Marta, Simonelli, Francesca, Brabet, Philippe, Labesse, Gilles, Audo, Isabelle, M

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 887 KB

english, 2013

16

364 Modifications fonctionnelles et anatomiques avant et après chirurgie de membrane épimaculaire idiopathique

Becquet, F., Zanlonghi, X., Libeau, L., Le rouic, J.F., Ducournau, D.

Journal:

Journal Français d'Ophtalmologie

Year:

2005

Language:

french

File:

PDF, 1.44 MB

french, 2005

17

651 Quantification de l’électrorétinogramme multifocal

Zanlonghi, X., Charlier, J., Defoort-Dhellemmes, S., Vermandel, S.

Journal:

Journal Français d'Ophtalmologie

Year:

2007

Language:

french

File:

PDF, 134 KB

french, 2007

18

473 Le glaucome : bases moléculaires et diagnostic génétique en France

Bresson, H., Zanlonghi, X., Bodet, S., Moisan, J.P., Gerson, F.

Journal:

Journal Français d'Ophtalmologie

Year:

2005

Language:

french

File:

PDF, 129 KB

french, 2005

19

Conduite automobile chez les sujets âgés au plan ophtalmologique et gérontologique

Journal:

Journal Français d'Ophtalmologie

Year:

2004

Language:

french

File:

PDF, 33 KB

french, 2004

20

Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness

Zeitz, Christina, Jacobson, Samuel G., Hamel, Christian P., Bujakowska, Kinga, Neuillé, Marion, Orhan, Elise, Zanlonghi, Xavier, Lancelot, Marie-Elise, Michiels, Christelle, Schwartz, Sharon B., Bocqu

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 738 KB

english, 2013

21

Frequency and Clinical Pattern of Vitelliform Macular Dystrophy Caused by Mutations of Interphotoreceptor Matrix IMPG1 and IMPG2 Genes

Meunier, Isabelle, Manes, Gaël, Bocquet, Béatrice, Marquette, Virginie, Baudoin, Corinne, Puech, Bernard, Defoort-Dhellemmes, Sabine, Audo, Isabelle, Verdet, Robert, Arndt, Carl, Zanlonghi, Xavier, Le

Journal:

Year:

2014

Language:

english

File:

PDF, 2.26 MB

english, 2014

22

High Prevalence of PRPH2 in Autosomal Dominant Retinitis Pigmentosa in France and Characterization of Biochemical and Clinical Features

Manes, Gaël, Guillaumie, Tremeur, Vos, Werner L., Devos, Aurore, Audo, Isabelle, Zeitz, Christina, Marquette, Virginie, Zanlonghi, Xavier, Defoort-Dhellemmes, Sabine, Puech, Bernard, Said, Saddek Moha

Journal:

American Journal of Ophthalmology

Year:

2015

Language:

english

File:

PDF, 2.54 MB

english, 2015

23

Spectrum of Rhodopsin Mutations in French Autosomal Dominant Rod–Cone Dystrophy Patients

Audo, Isabelle, Manes, Gaël, Mohand-Saïd, Saddek, Friedrich, Anne, Lancelot, Marie-Elise, Antonio, Aline, Moskova-Doumanova, Veselina, Poch, Oliver, Zanlonghi, Xavier, Hamel, Christian P., Sahel, José

Journal:

Investigative Ophthalmology & Visual Science

Year:

2010

Language:

english

File:

PDF, 593 KB

english, 2010

24

Papilloedema and MRI enhancement of the prechiasmal optic nerve at the acute stage of Leber hereditary optic neuropathy

Lamirel, C., Cassereau, J., Cochereau, I., Vignal-Clermont, C., Pajot, O., Tanguy, J. Y., Zanlonghi, X., Reynier, P., Amati-Bonneau, P., Dubas, F., Bonneau, D., Verny, C.

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2010

Language:

english

File:

PDF, 602 KB

english, 2010

25

Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?

Delphin, Nathalie, Hanein, Sylvain, Taie, Lucas Fares, Zanlonghi, Xavier, Bonneau, Dominique, Moisan, Jean-Paul, Boyle, Christine, Nitschke, Patrick, Pruvost, Solenn, Bonnefont, Jean-Paul, Munnich, Ar

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 325 KB

english, 2012

26

Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

Bonneau, D., Colin, E., Oca, F., Ferre, M., Chevrollier, A., Gueguen, N., Desquiret-Dumas, V., N'Guyen, S., Barth, M., Zanlonghi, X., Rio, M., Desguerre, I., Barnerias, C., Momtchilova, M., Rodriguez,

Journal:

Year:

2014

Language:

english

File:

PDF, 93 KB

english, 2014

27

[IEEE 1992 14th Annual International Conference of the IEEE Engineering in Medicine and Biology Society - Paris, France (1992.10.29-1992.11.1)] Proceedings of the Annual International Conference of the IEEE Engineering in Medicine and Biology Society - New electroretinography technique for macular function evaluation using focal stimulation and fixation monitoring

Charlier, Jacques R., Zanlonghi, Xavier

Year:

1992

Language:

english

File:

PDF, 176 KB

english, 1992

28

Pigmentary retinopathy as first manifestation in two cases of Scheie syndrome

Urbanski, Geoffrey, Barth, Magalie, Gury, Aline, Leruez, Stéphanie, Baufreton, Christophe, De Brux, Jean-Louis, Zanlonghi, Xavier, Bonneau, Dominique, Lavigne, Christian

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 96 KB

english, 2016

29

Aptitude professionnelle en ophtalmologie : rôle du médecin agréé

Betermiez, P., Bouvignies, P., Zanlonghi, X., Milazzo, S.

Journal:

EMC - Ophtalmologie

Year:

2012

Language:

french

File:

PDF, 299 KB

french, 2012

30

Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant

Charif, Majida, Titah, Salah Mohamed Cherif, Roubertie, Agathe, Desquiret-Dumas, Valérie, Gueguen, Naig, Meunier, Isabelle, Leid, Jean, Massal, Frédéric, Zanlonghi, Xavier, Mercier, Jacques, Raynaud d

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 1.56 MB

english, 2015

31

Clinical Characteristics and Risk Factors of Extensive Macular Atrophy with Pseudodrusen

Douillard, Aymeric, Picot, Marie-Christine, Delcourt, Cécile, Lacroux, Annie, Zanlonghi, Xavier, Puech, Bernard, Defoort-Dhelemmes, Sabine, Drumare, Isabelle, Jozefowicz, Elsa, Bocquet, Béatrice, Baud

Journal:

Year:

2016

Language:

english

File:

PDF, 1.51 MB

english, 2016

32

Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy

Gerber, Sylvie, Ding, Martina G, Gérard, Xavier, Zwicker, Klaus, Zanlonghi, Xavier, Rio, Marlène, Serre, Valérie, Hanein, Sylvain, Munnich, Arnold, Rotig, Agnès, Bianchi, Lucas, Amati-Bonneau, Patrizi

Journal:

Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 2.25 MB

english, 2017

33

High Hyperopia with Papillomacular Fold

Ryckewaert, Marc, Zanlonghi, Xavier, Bertrand-Cuignet, Hélène, Constantinides, George

Journal:

Ophthalmologica

Year:

1992

Language:

english

File:

PDF, 779 KB

english, 1992

34

Étude qualitative et quantitative de la consultation ophtalmologique en France : enquête multicentrique descriptive

Santiago, P.Y., Becquet, F., Zanlonghi, X., Bosc, J.M.

Journal:

Journal Français d'Ophtalmologie

Year:

2018

File:

PDF, 648 KB

2018

35

MERTK mutations update in inherited retinal diseases

Audo, Isabelle, Mohand-Said, Saddek, Boulanger-Scemama, Elise, Zanlonghi, Xavier, Condroyer, Christel, Démontant, Vanessa, Boyard, Fiona, Antonio, Aline, Méjécase, Cécile, El Shamieh, Said, Sahel, Jos

Journal:

Year:

2018

Language:

english

File:

PDF, 1.58 MB

english, 2018

36

Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients

Douillard, Aymeric, Picot, Marie-Christine, Delcourt, Cécile, Defoort-Dhellemmes, Sabine, Marzouka, Nour Al-Dain, Lacroux, Annie, Zanlonghi, Xavier, Drumare, Isabelle, Jozefowicz, Elsa, Bocquet, Béatr

Journal:

Scientific Reports

Year:

2018

Language:

english

File:

PDF, 1.48 MB

english, 2018

37

Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses

Vaché, Christel, Torriano, Simona, Faugère, Valérie, Erkilic, Nejla, Baux, David, Garcia-Garcia, Gema, Hamel, Christian P., Meunier, Isabelle, Zanlonghi, Xavier, Koenig, Michel, Kalatzis, Vasiliki, Ro

Journal:

Year:

2018

Language:

english

File:

PDF, 1.17 MB

english, 2018

38

Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene

Monfermé, Solene, Lasseaux, Eulalie, Duncombe-Poulet, Catherine, Hamel, Christian, Defoort-Dhellemmes, Sabine, Drumare, Isabelle, Zanlonghi, Xavier, Dollfus, Hélène, Perdomo, Yaurama, Bonneau, Dominiq

Journal:

British Journal of Ophthalmology

Year:

2018

Language:

english

File:

PDF, 1.56 MB

english, 2018

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