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Xeroderma Pigmentosum C (XPC) Mutations in Primary Fibroblasts Impair Base Excision Repair Pathway and Increase Oxidative DNA Damage.
Published in:
Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.561687
By:
- Fayyad, Nour;
- Kobaisi, Farah;
- Beal, David;
- Mahfouf, Walid;
- Ged, Cécile;
- Morice-Picard, Fanny;
- Fayyad-Kazan, Mohammad;
- Fayyad-Kazan, Hussein;
- Badran, Bassam;
- Rezvani, Hamid R.;
- Rachidi, Walid
Publication type:
Article
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
Published in:
2015
By:
- Coutelier, Marie;
- Goizet, Cyril;
- Durr, Alexandra;
- Habarou, Florence;
- Morais, Sara;
- Dionne-Laporte, Alexandre;
- Feifei Tao;
- Konop, Juliette;
- Stoll, Marion;
- Charles, Perrine;
- Jacoupy, Maxime;
- Matusiak, Raphael;
- Alonso, Isabel;
- Tallaksen, Chantal;
- Mairey, Mathilde;
- Kennerson, Marina;
- Gaussen, Marion;
- Schule, Rebecca;
- Janin, Maxime;
- Morice-Picard, Fanny
Publication type:
journal article
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.
Published in:
Epilepsia (Series 4), 2011, v. 52, n. 10, p. 1820, doi. 10.1111/j.1528-1167.2011.03163.x
By:
- Mignot, Cyril;
- Moutard, Marie-Laure;
- Trouillard, Oriane;
- Gourfinkel-An, Isabelle;
- Jacquette, Aurélia;
- Arveiler, Benoit;
- Morice-Picard, Fanny;
- Lacombe, Didier;
- Chiron, Catherine;
- Ville, Dorothée;
- Charles, Perrine;
- LeGuern, Eric;
- Depienne, Christel;
- Héron, Delphine
Publication type:
Article
ARP-T1-associated Bazex–Dupré–Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies.
Published in:
Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02054-9
By:
- Park, Hyun-Sook;
- Papanastasi, Eirini;
- Blanchard, Gabriela;
- Chiticariu, Elena;
- Bachmann, Daniel;
- Plomann, Markus;
- Morice-Picard, Fanny;
- Vabres, Pierre;
- Smahi, Asma;
- Huber, Marcel;
- Pich, Christine;
- Hohl, Daniel
Publication type:
Article
Xenopus: An in vivo model for studying skin response to ultraviolet B irradiation.
Published in:
Development, Growth & Differentiation, 2023, v. 65, n. 4, p. 194, doi. 10.1111/dgd.12848
By:
- El Mir, Joudi;
- Fedou, Sandrine;
- Thézé, Nadine;
- Morice‐Picard, Fanny;
- Cario, Muriel;
- Fayyad‐Kazan, Hussein;
- Thiébaud, Pierre;
- Rezvani, Hamid‐Reza
Publication type:
Article
PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1030, doi. 10.1002/ajmg.a.61127
By:
- Bonnemason‐Carrere, Paul;
- Morice‐Picard, Fanny;
- Pennamen, Perrine;
- Arveiler, Benoit;
- Fergelot, Patricia;
- Goizet, Cyril;
- Hellegouarch, Mélanie;
- Lacombe, Didier;
- Plaisant, Claudio;
- Raclet, Virginie;
- Rooryck, Caroline;
- Lasseaux, Eulalie;
- Trimouille, Aurélien
Publication type:
Article
Hypertrophic neuropathy in Noonan syndrome with multiple lentigines.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1570, doi. 10.1002/ajmg.a.37601
By:
- Maridet, Claire;
- Sole, Guilhem;
- Morice‐Picard, Fanny;
- Taieb, Alain
Publication type:
Article
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation.
Published in:
Nature Genetics, 2008, v. 40, n. 9, p. 1119, doi. 10.1038/ng.199
By:
- Le Goff, Carine;
- Morice-Picard, Fanny;
- Dagoneau, Nathalie;
- Wang, Lauren W.;
- Perrot, Claire;
- Crow, Yanick J.;
- Bauer, Florence;
- Flori, Elisabeth;
- Prost-Squarcioni, Catherine;
- Krakow, Deborah;
- Gaoxiang Ge;
- Greenspan, Daniel S.;
- Bonnet, Damien;
- Le Merrer, Martine;
- Munnich, Arnold;
- Apte, Suneel S.;
- Cormier-Daire, Valérie
Publication type:
Article
Novel KRT83 and KRT86 mutations associated with monilethrix.
Published in:
Experimental Dermatology, 2015, v. 24, n. 3, p. 222, doi. 10.1111/exd.12624
By:
- Steensel, Maurice;
- Vreeburg, Maaike;
- Urbina, Maria T.;
- López, Paul;
- Morice‐Picard, Fanny;
- Geel, Michel
Publication type:
Article
Genomic mutation landscape of skin cancers from DNA repair-deficient xeroderma pigmentosum patients.
Published in:
Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-38311-0
By:
- Yurchenko, Andrey A.;
- Rajabi, Fatemeh;
- Braz-Petta, Tirzah;
- Fassihi, Hiva;
- Lehmann, Alan;
- Nishigori, Chikako;
- Wang, Jinxin;
- Padioleau, Ismael;
- Gunbin, Konstantin;
- Panunzi, Leonardo;
- Morice-Picard, Fanny;
- Laplante, Pierre;
- Robert, Caroline;
- Kannouche, Patricia L.;
- Menck, Carlos F. M.;
- Sarasin, Alain;
- Nikolaev, Sergey I.
Publication type:
Article
Correction: Effects of the Staphylococcus aureus and Staphylococcus epidermidis Secretomes Isolated from the Skin Microbiota of Atopic Children on CD4<sup>+</sup> T Cell Activation.
Published in:
PLoS ONE, 2015, v. 10, n. 11, p. 1, doi. 10.1371/journal.pone.0144323
By:
- Laborel-Préneron, Emeline;
- Bianchi, Pascale;
- Boralevi, Franck;
- Lehours, Philippe;
- Fraysse, Frédérique;
- Morice-Picard, Fanny;
- Sugai, Motoyuki;
- Sato'o, Yusuke;
- Badiou, Cédric;
- Lina, Gérard;
- Schmitt, Anne-Marie;
- Redoulès, Daniel;
- Casas, Christiane;
- Davrinche, Christian
Publication type:
Article
Effects of the Staphylococcus aureus and Staphylococcus epidermidis Secretomes Isolated from the Skin Microbiota of Atopic Children on CD4<sup>+</sup> T Cell Activation.
Published in:
PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0141067
By:
- Laborel-Préneron, Emeline;
- Bianchi, Pascale;
- Boralevi, Franck;
- Lehours, Philippe;
- Fraysse, Frédérique;
- Morice-Picard, Fanny;
- Sugai, Motoyuki;
- Sato'o, Yusuke;
- Badiou, Cédric;
- Lina, Gérard;
- Schmitt, Anne-Marie;
- Redoulès, Daniel;
- Casas, Christiane;
- Davrinche, Christian
Publication type:
Article
Burden of albinism: development and validation of a burden assessment tool.
Published in:
2018
By:
- Morice-Picard, Fanny;
- Taïeb, Charles;
- Marti, Aurelie;
- Gliksohn, Antoine;
- Bennani, Mohammed;
- Bodemer, Christine;
- Ezzedine, Khaled;
- Filière Maladies Rares en Dermatologie: FIMARAD
Publication type:
journal article
High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients.
Published in:
Human Genetics, 2011, v. 129, n. 2, p. 199, doi. 10.1007/s00439-010-0913-5
By:
- Rooryck, Caroline;
- Morice-Picard, Fanny;
- Lasseaux, Eulalie;
- Cailley, Dorothée;
- Dollfus, Hélène;
- Defoort-Dhellemme, Sabine;
- Duban-Bedu, Bénédicte;
- Ravel, Thomy;
- Taieb, Alain;
- Lacombe, Didier;
- Arveiler, Benoît
Publication type:
Article
Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome.
Published in:
British Journal of Dermatology, 2024, v. 191, n. 2, p. 303, doi. 10.1093/bjd/ljae167
By:
- Kuentz, Paul;
- Engel, Camille;
- Laeng, Mathieu;
- Chevarin, Martin;
- Duffourd, Yannis;
- Martel, Jéhanne;
- Piard, Juliette;
- Morice-Picard, Fanny;
- Aubert, Helene;
- Bessis, Didier;
- Guerrot, Anne-Marie;
- Maruani, Annabel;
- Boccara, Olivia;
- Mazereeuw-Hautier, Juliette;
- Ott, Hagen;
- Phan, Alice;
- Puzenat, Eve;
- Quelin, Chloe;
- Thauvin-Robinet, Christel;
- Faivre, Laurence
Publication type:
Article
SCN10A variants associated with congenital harlequin syndrome.
Published in:
British Journal of Dermatology, 2022, v. 186, n. 6, p. 1039, doi. 10.1111/bjd.21011
By:
- Halle, Aurelie;
- De Becdelievre, Alix;
- Funalot, Benoit;
- Labrèze, Christine;
- Morice‐Picard, Fanny;
- Boralevi, Franck
Publication type:
Article
Severe Phenotype in Patients with Large Deletions of NF1.
Published in:
Cancers, 2021, v. 13, n. 12, p. 2963, doi. 10.3390/cancers13122963
By:
- Pacot, Laurence;
- Vidaud, Dominique;
- Sabbagh, Audrey;
- Laurendeau, Ingrid;
- Briand-Suleau, Audrey;
- Coustier, Audrey;
- Maillard, Théodora;
- Barbance, Cécile;
- Morice-Picard, Fanny;
- Sigaudy, Sabine;
- Glazunova, Olga O.;
- Damaj, Lena;
- Layet, Valérie;
- Quelin, Chloé;
- Gilbert-Dussardier, Brigitte;
- Audic, Frédérique;
- Dollfus, Hélène;
- Guerrot, Anne-Marie;
- Lespinasse, James;
- Julia, Sophie
Publication type:
Article
Comments on the Proposed Term Pleomorphic Ichthyosis.
Published in:
Acta Dermato-Venereologica, 2010, v. 90, n. 5, p. 452, doi. 10.2340/00015555-0941
By:
- Taïeb, Alain;
- Morice-Picard, Fanny
Publication type:
Article
Psychosocial implications of rare genetic skin diseases affecting appearance on daily life experiences, emotional state, self-perception and quality of life in adults: a systematic review.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02629-1
By:
- Fournier, Hugo;
- Calcagni, Nicolas;
- Morice-Picard, Fanny;
- Quintard, Bruno
Publication type:
Article
Wells syndrome and acquired cutis laxa: An atypical association.
Published in:
Journal of Dermatology, 2023, v. 50, n. 11, p. e394, doi. 10.1111/1346-8138.16897
By:
- Bouquerel, Margot;
- Dequidt, Laure;
- Jullie, Marie‐Laure;
- Beltzung, Fanny;
- Gibier, Jean‐Baptiste;
- Lefevre, Guillaume;
- Dezoteux, Frederic;
- Morice‐Picard, Fanny;
- Trimouille, Aurelien;
- Doutre, Marie‐Sylvie
Publication type:
Article
Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome.
Published in:
FEBS Journal, 2016, v. 283, n. 3, p. 498, doi. 10.1111/febs.13605
By:
- Hamon, Yveline;
- Legowska, Monika;
- Fergelot, Patricia;
- Dallet‐Choisy, Sandrine;
- Newell, Louise;
- Vanderlynden, Lise;
- Kord Valeshabad, Ali;
- Acrich, Karina;
- Kord, Hadi;
- Tsamakis, Charalampos;
- Morice‐Picard, Fanny;
- Surplice, Ian;
- Zoidakis, Jerome;
- David, Karen;
- Vlahou, Antonia;
- Ragunatha, Shivanna;
- Nagy, Nikoletta;
- Farkas, Katalin;
- Széll, Márta;
- Goizet, Cyril
Publication type:
Article
Cutaneous lipomas and macrocephaly as early signs of PTEN hamartoma tumor syndrome.
Published in:
Pediatric Dermatology, 2020, v. 37, n. 5, p. 839, doi. 10.1111/pde.14265
By:
- Martin, Hélène;
- Bessis, Didier;
- Bourrat, Emmanuelle;
- Mazereeuw‐Hautier, Juliette;
- Morice‐Picard, Fanny;
- Balguerie, Xavier;
- Chiaverini, Christine
Publication type:
Article
Isolated straight hair nevus in a White child.
Published in:
Pediatric Dermatology, 2019, v. 36, n. 2, p. 260, doi. 10.1111/pde.13740
By:
- Rault, Lucie;
- Morice‐Picard, Fanny;
- Svahn, Isabelle;
- Gontier, Etienne;
- Eyraud, Alexia;
- Taïeb, Alain
Publication type:
Article
Cutaneous Manifestations in Costello and Cardiofaciocutaneous Syndrome: Report of 18 Cases and Literature Review.
Published in:
Pediatric Dermatology, 2013, v. 30, n. 6, p. 665, doi. 10.1111/pde.12171
By:
- Morice‐Picard, Fanny;
- Ezzedine, Khaled;
- Delrue, Marie‐Ange;
- Arveiler, Benoit;
- Fergelot, Patricia;
- Taïeb, Alain;
- Lacombe, Didier;
- Boralevi, Franck
Publication type:
Article
Identification of Mutations in SDR9C7 in Three Patients with Autosomal Recessive Congenital Ichthyosis.
Published in:
Acta Dermato-Venereologica, 2020, v. 100, n. 2, p. 1, doi. 10.2340/00015555-3359
By:
- MAZEREEUW-HAUTIER, Juliette;
- SEVERINO-FREIRE, Maella;
- GASTON, Véronique;
- TEXIER, Hélène;
- VINCENT, Marie;
- AUBERT, Hélène;
- MORICE-PICARD, Fanny;
- JONCA, Nathalie
Publication type:
Article
Keratitis-Ichthyosis-Deafness Syndrome: Early Death Caused by the GJB2 Mutation p.Gly12Arg.
Published in:
Acta Dermato-Venereologica, 2019, v. 99, n. 10, p. 921, doi. 10.2340/00015555-3218
By:
- GODILLOT, Clothilde;
- SEVERINO-FREIRE, Maella;
- MICHAUD, Vincent;
- BORALEVI, Franck;
- LABREZE, Christine;
- GUIGONIS, Vincent;
- ONNIS, Giuliana;
- MORICE-PICARD, Fanny;
- MAZEREEUW-HAUTIER, Juliette
Publication type:
Article
Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.
Published in:
Acta Dermato-Venereologica, 2016, v. 96, n. 4, p. 473, doi. 10.2340/00015555-2299
By:
- HOTZ, Alrun;
- OJI, Vinzenz;
- BOURRAT, Emmanuelle;
- JONCA, Nathalie;
- MAZEREEUW-HAUTIER, Juliette;
- BETZ, Regina C.;
- BLUME-PEYTAVI, Ulrike;
- STIELER, Karola;
- MORICE-PICARD, Fanny;
- SCHÖNBUCHNER, Ines;
- MARKUS, Susanne;
- SCHLIPF, Nina;
- FISCHER, Judith
Publication type:
Article
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.
Published in:
Clinical Genetics, 2021, v. 99, n. 5, p. 650, doi. 10.1111/cge.13918
By:
- Garde, Aurore;
- Guibaud, Laurent;
- Goldenberg, Alice;
- Petit, Florence;
- Dard, Rodolphe;
- Roume, Joelle;
- Mazereeuw‐Hautier, Juliette;
- Chassaing, Nicolas;
- Lacombe, Didier;
- Morice‐Picard, Fanny;
- Toutain, Annick;
- Arpin, Stéphanie;
- Boccara, Olivia;
- Touraine, Renaud;
- Blanchet, Patricia;
- Coubes, Christine;
- Willems, Marjolaine;
- Pinson, Lucile;
- Van Kien, Philippe Khau;
- Chiaverini, Christine
Publication type:
Article
Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient.
Published in:
Clinical Genetics, 2020, v. 97, n. 5, p. 723, doi. 10.1111/cge.13700
By:
- Marsili, Luisa;
- Overwater, Eline;
- Hanna, Nadine;
- Baujat, Geneviève;
- Baars, Marieke J.H.;
- Boileau, Catherine;
- Bonneau, Dominique;
- Brehin, Anne Claire;
- Capri, Yline;
- Cheung, Ho Y.;
- Dulfer, Eelco;
- Gerard, Marion;
- Gouya, Laurent;
- Hilhorst‐Hofstee, Yvonne;
- Houweling, Arjan C.;
- Isidor, Bertrand;
- Le Gloan, Lauriane;
- Menke, Leonie A.;
- Odent, Sylvie;
- Morice‐Picard, Fanny
Publication type:
Article
Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations.
Published in:
Journal of Clinical Immunology, 2021, v. 41, n. 5, p. 958, doi. 10.1007/s10875-021-00985-w
By:
- Fusaro, Mathieu;
- Vincent, Aline;
- Castelle, Martin;
- Rosain, Jérémie;
- Fournier, Benjamin;
- Veiga-da-Cunha, Maria;
- Kentache, Takfarinas;
- Serre, Jill;
- Fallet-Bianco, Catherine;
- Delezoide, Anne-Lise;
- Renesme, Laurent;
- Picard, Fanny Morice;
- Lasseaux, Eulalie;
- Aladjidi, Nathalie;
- Seta, Nathalie;
- Cormier-Daire, Valérie;
- Schaftingen, Emile van;
- Neven, Bénédicte;
- Moshous, Despina;
- Blesson, Sophie
Publication type:
Article
SLC24A5 Mutations Are Associated with Non-Syndromic Oculocutaneous Albinism.
Published in:
Journal of Investigative Dermatology, 2014, v. 134, n. 2, p. 568, doi. 10.1038/jid.2013.360
By:
- Morice-Picard, Fanny;
- Lasseaux, Eulalie;
- François, Stéphane;
- Simon, Delphine;
- Rooryck, Caroline;
- Bieth, Eric;
- Colin, Estelle;
- Bonneau, Dominique;
- Journel, Hubert;
- Walraedt, Sophie;
- Leroy, Bart P;
- Meire, Francoise;
- Lacombe, Didier;
- Arveiler, Benoit
Publication type:
Article
NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal–Hreidarsson syndrome.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 6, p. 907, doi. 10.1093/hmg/ddaa011
By:
- Benyelles, Maname;
- O'Donohue, Marie-Françoise;
- Kermasson, Laëtitia;
- Lainey, Elodie;
- Borie, Raphael;
- Lagresle-Peyrou, Chantal;
- Nunes, Hilario;
- Cazelles, Clarisse;
- Fourrage, Cécile;
- Ollivier, Emmanuelle;
- Marcais, Ambroise;
- Gamez, Anne-Sophie;
- Morice-Picard, Fanny;
- Caillaud, Denis;
- Pottier, Nicolas;
- Ménard, Christelle;
- Ba, Ibrahima;
- Fernandes, Alicia;
- Crestani, Bruno;
- Villartay, Jean-Pierre de
Publication type:
Article
Improvement of epidermal covering on AEC patients with severe skin erosions by PRIMA-1MET/APR-246.
Published in:
Cell Death & Disease, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41419-020-2223-8
By:
- Aberdam, Edith;
- Roux, Lauriane N.;
- Secrétan, Philippe-Henri;
- Boralevi, Franck;
- Schlatter, Joël;
- Morice-Picard, Fanny;
- Sol, Stefano;
- Bodemer, Christine;
- Missero, Caterina;
- Cisternino, Salvatore;
- Aberdam, Daniel;
- Hadj-Rabia, Smail
Publication type:
Article
Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS‐positive variant patients.
Published in:
Journal of the European Academy of Dermatology & Venereology, 2024, v. 38, n. 9, p. 1818, doi. 10.1111/jdv.19996
By:
- Bessis, Didier;
- Bursztejn, Anne‐Claire;
- Morice‐Picard, Fanny;
- Capri, Yline;
- Barbarot, Sébastien;
- Aubert, Hélène;
- Bodet, Damien;
- Bourrat, Emmanuelle;
- Chiaverini, Christine;
- Poujade, Laura;
- Willems, Marjolaine;
- Rouanet, Jacques;
- Dompmartin‐Blanchère, Anne;
- Geneviève, David;
- Gerard, Marion;
- Ginglinger, Emmanuelle;
- Hadj‐Rabia, Smaïl;
- Martin, Ludovic;
- Mazereeuw‐Hautier, Juliette;
- Bibas, Nathalie
Publication type:
Article
Giant syringocystadenocarcinoma papilliferum with conjunctival recurrence: Possible Schimmelpenning syndrome with postzygotic G13R HRAS and K601N BRAF signature.
Published in:
Journal of the European Academy of Dermatology & Venereology, 2023, v. 37, n. 12, p. e1420, doi. 10.1111/jdv.19346
By:
- Dupont, Aurore;
- Vergara, Rémi;
- Pacaud, Alizé;
- Dequidt, Laure;
- Dutriaux, Caroline;
- Saunier, Valentine;
- Caumont, Charline;
- Jullie, Marie‐Laure;
- Taïeb, Alain;
- Morice‐Picard, Fanny;
- Dousset, Léa
Publication type:
Article
Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.
Published in:
2018
By:
- Geoffron, Sophie;
- Abi Habib, Walid;
- Chantot-Bastaraud, Sandra;
- Dubern, Béatrice;
- Steunou, Virginie;
- Azzi, Salah;
- Afenjar, Alexandra;
- Busa, Tiffanny;
- Canton, Ana P;
- Chalouhi, Christel;
- Dufourg, Marie-Noëlle;
- Esteva, Blandine;
- Fradin, Mélanie;
- Geneviève, David;
- Heide, Solveig;
- Isidor, Bertrand;
- Linglart, Agnès;
- Morice Picard, Fanny;
- Naud-Saudreau, Catherine;
- Oliver Petit, Isabelle
Publication type:
journal article
Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.
Published in:
2016
By:
- Miguet, Marguerite;
- Thevenon, Julien;
- Laugel, Vincent;
- Lefebvre, Mathilde;
- Bourchany, Aurélie;
- Rivière, Jean‐Baptiste;
- Duffourd, Yannis;
- Schaefer, Elise;
- Antal, Maria Cristina;
- Abida, Rosalie;
- Weingertner, Anne‐Sophie;
- Kremer, Valérie;
- Vabres, Pierre;
- Morice‐Picard, Fanny;
- Gonzales, Marie;
- Lipsker, Dan;
- Fraitag, Sylvie;
- Mandel, Jean‐Louis;
- Chelly, Jamel;
- Dollfus, Hélène
Publication type:
journal article
Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.
Published in:
Human Mutation, 2020, v. 41, n. 12, p. 2167, doi. 10.1002/humu.24132
By:
- Liu, Hui;
- Giguet‐Valard, Anna‐Gaëlle;
- Simonet, Thomas;
- Szenker‐Ravi, Emmanuelle;
- Lambert, Laetitia;
- Vincent‐Delorme, Catherine;
- Scheidecker, Sophie;
- Fradin, Mélanie;
- Morice‐Picard, Fanny;
- Naudion, Sophie;
- Ciorna‐Monferrato, Viorica;
- Colin, Estelle;
- Fellmann, Florence;
- Blesson, Sophie;
- Jouk, Pierre‐Simon;
- Francannet, Christine;
- Petit, Florence;
- Moutton, Sébastien;
- Lehalle, Daphné;
- Chassaing, Nicolas
Publication type:
Article
Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics.
Published in:
NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00425-9
By:
- Pacot, Laurence;
- Vidaud, Dominique;
- Ye, Manuela;
- Chansavang, Albain;
- Coustier, Audrey;
- Maillard, Theodora;
- Barbance, Cécile;
- Laurendeau, Ingrid;
- Hébrard, Bérénice;
- Lunati-Rozie, Ariane;
- Funalot, Benoît;
- Wolkenstein, Pierre;
- Vidaud, Michel;
- Goldenberg, Alice;
- Morice-Picard, Fanny;
- Hadjadj, Djihad;
- Parfait, Béatrice;
- Pasmant, Eric
Publication type:
Article
Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation.
Published in:
Genes, 2022, v. 13, n. 12, p. 2198, doi. 10.3390/genes13122198
By:
- Moreno-Artero, Ester;
- Morice-Picard, Fanny;
- Lasseaux, Eulalie;
- Robert, Matthieu P.;
- Coste, Valentine;
- Michaud, Vincent;
- Leclerc-Mercier, Stéphanie;
- Bremond-Gignac, Dominique;
- Arveiler, Benoit;
- Hadj-Rabia, Smail
Publication type:
Article
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.
Published in:
Pigment Cell & Melanoma Research, 2024, v. 37, n. 5, p. 534, doi. 10.1111/pcmr.13123
By:
- Michaud, Vincent;
- Sequeira, Angèle;
- Mercier, Elina;
- Lasseaux, Eulalie;
- Plaisant, Claudio;
- Hadj‐Rabia, Smail;
- Whalen, Sandra;
- Bonneau, Dominique;
- Dieux‐Coeslier, Anne;
- Morice‐Picard, Fanny;
- Coursimault, Juliette;
- Arveiler, Benoît;
- Javerzat, Sophie
Publication type:
Article
Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky–Pudlak syndrome.
Published in:
Pigment Cell & Melanoma Research, 2021, v. 34, n. 1, p. 132, doi. 10.1111/pcmr.12915
By:
- Pennamen, Perrine;
- Tingaud‐Sequeira, Angèle;
- Michaud, Vincent;
- Morice‐Picard, Fanny;
- Plaisant, Claudio;
- Vincent‐Delorme, Catherine;
- Giuliano, Fabienne;
- Azarnoush, Saba;
- Capri, Yline;
- Marçon, Carolina;
- Lacombe, Didier;
- Lasseaux, Eulalie;
- Arveiler, Benoît
Publication type:
Article
Pigmentation abnormalities in nucleotide excision repair disorders: Evidence and hypotheses.
Published in:
Pigment Cell & Melanoma Research, 2019, v. 32, n. 1, p. 25, doi. 10.1111/pcmr.12720
By:
- Kasraian, Zeinab;
- Trompezinski, Sandra;
- Cario‐André, Muriel;
- Morice‐Picard, Fanny;
- Ged, Cécile;
- Jullie, Marie‐Laure;
- Taieb, Alain;
- Rezvani, Hamid Reza
Publication type:
Article
Molecular characterization of a series of 990 index patients with albinism.
Published in:
Pigment Cell & Melanoma Research, 2018, v. 31, n. 4, p. 466, doi. 10.1111/pcmr.12688
By:
- Lasseaux, Eulalie;
- Plaisant, Claudio;
- Michaud, Vincent;
- Pennamen, Perrine;
- Trimouille, Aurelien;
- Gaston, Laetitia;
- Monfermé, Solène;
- Lacombe, Didier;
- Rooryck, Caroline;
- Morice‐Picard, Fanny;
- Arveiler, Benoît
Publication type:
Article
Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting.
Published in:
Pigment Cell & Melanoma Research, 2018, v. 31, n. 2, p. 318, doi. 10.1111/pcmr.12651
By:
- Marti, Aurélie;
- Lasseaux, Eulalie;
- Ezzedine, Khaled;
- Léauté‐Labrèze, Christine;
- Boralevi, Franck;
- Paya, Clément;
- Coste, Valentine;
- Deroissart, Vincent;
- Arveiler, Benoit;
- Taieb, Alain;
- Morice‐Picard, Fanny
Publication type:
Article
Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.
Published in:
Pigment Cell & Melanoma Research, 2017, v. 30, n. 6, p. 563, doi. 10.1111/pcmr.12608
By:
- Michaud, Vincent;
- Lasseaux, Eulalie;
- Plaisant, Claudio;
- Verloes, Alain;
- Perdomo ‐ Trujillo, Yaumara;
- Hamel, Christian;
- Elcioglu, Nursel H.;
- Leroy, Bart;
- Kaplan, Josseline;
- Jouk, Pierre ‐ Simon;
- Lacombe, Didier;
- Fergelot, Patricia;
- Morice ‐ Picard, Fanny;
- Arveiler, Benoit
Publication type:
Article
Albinism in a patient with mutations at both the OA1 and OCA3 loci.
Published in:
Pigment Cell & Melanoma Research, 2016, v. 29, n. 1, p. 107, doi. 10.1111/pcmr.12408
By:
- Morice ‐ Picard, Fanny;
- Lasseaux, Eulalie;
- Plaisant, Claudio;
- Cailley, Dorothée;
- Bouron, Julie;
- Rooryck, Caroline;
- Lacombe, Didier;
- Pelletier, Valérie;
- Lipsker, Dan;
- Perdomo ‐ Trujillo, Yaumara;
- Dollfus, Hélène;
- Arveiler, Benoit
Publication type:
Article
Identification of a homozygous mutation of SLC24A5 ( OCA6) in two patients with oculocutaneous albinism from French Guiana.
Published in:
Pigment Cell & Melanoma Research, 2016, v. 29, n. 1, p. 104, doi. 10.1111/pcmr.12425
By:
- Bertolotti, Antoine;
- Lasseaux, Eulalie;
- Plaisant, Claudio;
- Trimouille, Aurelien;
- Morice ‐ Picard, Fanny;
- Rooryck, Caroline;
- Lacombe, Didier;
- Couppie, Pierre;
- Arveiler, Benoît
Publication type:
Article
Increasing the complexity: new genes and new types of albinism.
Published in:
Pigment Cell & Melanoma Research, 2014, v. 27, n. 1, p. 11, doi. 10.1111/pcmr.12167
By:
- Montoliu, Lluís;
- Grønskov, Karen;
- Wei, Ai ‐ Hua;
- Martínez ‐ García, Mónica;
- Fernández, Almudena;
- Arveiler, Benoît;
- Morice ‐ Picard, Fanny;
- Riazuddin, Saima;
- Suzuki, Tamio;
- Ahmed, Zubair M.;
- Rosenberg, Thomas;
- Li, Wei
Publication type:
Article
High-resolution array- CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene.
Published in:
Pigment Cell & Melanoma Research, 2014, v. 27, n. 1, p. 59, doi. 10.1111/pcmr.12173
By:
- Morice ‐ Picard, Fanny;
- Lasseaux, Eulalie;
- Cailley, Dorothée;
- Gros, Audrey;
- Toutain, Jérome;
- Plaisant, Claudio;
- Simon, Delphine;
- François, Stéphane;
- Gilbert ‐ Dussardier, Brigitte;
- Kaplan, Josseline;
- Rooryck, Caroline;
- Lacombe, Didier;
- Arveiler, Benoit
Publication type:
Article

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