BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome
Pennamen, Perrine, Le, Linh, Tingaud-Sequeira, Angèle, Fiore, Mathieu, Bauters, Anne, Van Duong Béatrice, Nguyen, Coste, Valentine, Bordet, Jean-Claude, Plaisant, Claudio, Diallo, Modibo, Michaud, Vincent, Trimouille, Aurélien, Lacombe, Didier, Lasseaux, Eulalie, Delevoye, Cédric, Picard, Fanny Morice, Delobel, Bruno, Marks, Michael S., Arveiler, Benoit
Published in Genetics in medicine (01.10.2020)
Published in Genetics in medicine (01.10.2020)
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Journal Article
Description of a family with X‐linked oculo‐auriculo‐vertebral spectrum associated with polyalanine tract expansion in ZIC3
Trimouille, Aurélien, Tingaud‐Sequeira, Angèle, Lacombe, Didier, Duelund Hjortshøj, Tina, Kreiborg, Sven, Buciek Hove, Hanne, Rooryck, Caroline
Published in Clinical genetics (01.10.2020)
Published in Clinical genetics (01.10.2020)
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Journal Article
Dopachrome tautomerase variants in patients with oculocutaneous albinism
Pennamen, Perrine, Tingaud-Sequeira, Angèle, Gazova, Iveta, Keighren, Margaret, McKie, Lisa, Marlin, Sandrine, Gherbi Halem, Souad, Kaplan, Josseline, Delevoye, Cédric, Lacombe, Didier, Plaisant, Claudio, Michaud, Vincent, Lasseaux, Eulalie, Javerzat, Sophie, Jackson, Ian, Arveiler, Benoit
Published in Genetics in medicine (01.03.2021)
Published in Genetics in medicine (01.03.2021)
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Journal Article
Zebrafish obesogenic test: a tool for screening molecules that target adiposity
Tingaud-Sequeira, Angèle, Ouadah, Nafia, Babin, Patrick J.
Published in Journal of lipid research (01.09.2011)
Published in Journal of lipid research (01.09.2011)
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Journal Article
Zebrafish Eleutheroembryos Provide a Suitable Vertebrate Model for Screening Chemicals that Impair Thyroid Hormone Synthesis
Thienpont, Benedicte, Tingaud-Sequeira, Angèle, Prats, Eva, Barata, Carlos, Babin, Patrick J, Raldúa, Demetrio
Published in Environmental science & technology (01.09.2011)
Published in Environmental science & technology (01.09.2011)
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Journal Article
A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum
Tingaud-Sequeira, Angèle, Trimouille, Aurélien, Salaria, Manju, Stapleton, Rachel, Claverol, Stéphane, Plaisant, Claudio, Bonneu, Marc, Lopez, Estelle, Arveiler, Benoit, Lacombe, Didier, Rooryck, Caroline
Published in Human genetics (01.06.2021)
Published in Human genetics (01.06.2021)
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Journal Article
Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky–Pudlak syndrome
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
Published in Pigment cell and melanoma research (01.01.2021)
Published in Pigment cell and melanoma research (01.01.2021)
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Journal Article
The zebrafish genome encodes the largest vertebrate repertoire of functional aquaporins with dual paralogy and substrate specificities similar to mammals
Tingaud-Sequeira, Angèle, Calusinska, Magdalena, Finn, Roderick N, Chauvigné, François, Lozano, Juanjo, Cerdà, Joan
Published in BMC evolutionary biology (11.02.2010)
Published in BMC evolutionary biology (11.02.2010)
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Web Resource
Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS
Tingaud‐Sequeira, Angèle, Trimouille, Aurélien, Marlin, Sandrine, Lopez, Estelle, Berenguer, Marie, Gherbi, Souad, Arveiler, Benoit, Lacombe, Didier, Rooryck, Caroline
Published in Molecular genetics & genomic medicine (01.10.2020)
Published in Molecular genetics & genomic medicine (01.10.2020)
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Journal Article
Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC
Tingaud-Sequeira, Angèle, Raldúa, Demetrio, Lavie, Julie, Mathieu, Guilaine, Bordier, Magali, Knoll-Gellida, Anja, Rambeau, Pierre, Coupry, Isabelle, André, Michèle, Malm, Eva, Möller, Claes, Andreasson, Sten, Rendtorff, Nanna D, Tranebjærg, Lisbeth, Koenig, Michel, Lacombe, Didier, Goizet, Cyril, Babin, Patrick J
Published in Neurobiology of disease (01.02.2017)
Published in Neurobiology of disease (01.02.2017)
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Journal Article
Structural and functional divergence of two fish aquaporin-1 water channels following teleost-specific gene duplication
Tingaud-Sequeira, Angèle, Chauvigné, François, Fabra, Mercedes, Lozano, Juanjo, Raldúa, Demetrio, Cerdà, Joan
Published in BMC evolutionary biology (23.09.2008)
Published in BMC evolutionary biology (23.09.2008)
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Journal Article
Cathepsin B differential expression and enzyme processing and activity during Fundulus heteroclitus embryogenesis
Tingaud-Sequeira, Angèle, Carnevali, Oliana, Cerdà, Joan
Published in Comparative biochemistry and physiology. Part A, Molecular & integrative physiology (01.02.2011)
Published in Comparative biochemistry and physiology. Part A, Molecular & integrative physiology (01.02.2011)
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Journal Article
New insights into molecular pathways associated with flatfish ovarian development and atresia revealed by transcriptional analysis
Tingaud-Sequeira, Angèle, Chauvigné, François, Lozano, Juanjo, Agulleiro, María J, Asensio, Esther, Cerdà, Joan
Published in BMC genomics (15.09.2009)
Published in BMC genomics (15.09.2009)
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Journal Article
Epidermal transient down‐regulation of retinol‐binding protein 4 and mirror expression of apolipoprotein Eb and estrogen receptor 2a during zebrafish fin and scale development
Tingaud‐Sequeira, Angèle, Forgue, Jean, André, Michèle, Babin, Patrick J.
Published in Developmental dynamics (01.11.2006)
Published in Developmental dynamics (01.11.2006)
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Journal Article
Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS
Lopez, Estelle, Berenguer, Marie, Tingaud-Sequeira, Angèle, Marlin, Sandrine, Toutain, Annick, Denoyelle, Françoise, Picard, Arnaud, Charron, Sabine, Mathieu, Guilaine, de Belvalet, Harmony, Arveiler, Benoit, Babin, Patrick J, Lacombe, Didier, Rooryck, Caroline
Published in Journal of medical genetics (01.11.2016)
Published in Journal of medical genetics (01.11.2016)
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Journal Article
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum
Celse, Tristan, Tingaud-Sequeira, Angèle, Dieterich, Klaus, Siegfried, Geraldine, Lecaignec, Cédric, Bouneau, Laurence, Fannemel, Madeleine, Salaun, Gaelle, Laffargue, Fanny, Martinez, Guillaume, Satre, Véronique, Vieville, Gaelle, Bidart, Marie, Soussi Zander, Cecilia, Turesson, Ann-Charlotte, Splitt, Miranda, Reboul, Dorothee, Chiesa, Jean, Khau Van Kien, Philippe, Godin, Manon, Gruchy, Nicolas, Goel, Himanshu, Palmer, Elizabeth, Demetriou, Kalliope, Shalhoub, Carolyn, Rooryck, Caroline, Coutton, Charles
Published in Journal of medical genetics (01.06.2023)
Published in Journal of medical genetics (01.06.2023)
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Journal Article
The Dct−/− Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism
Tingaud-Sequeira, Angèle, Mercier, Elina, Michaud, Vincent, Pinson, Benoît, Gazova, Ivet, Gontier, Etienne, Decoeur, Fanny, McKie, Lisa, Jackson, Ian J., Arveiler, Benoît, Javerzat, Sophie
Published in Genes (01.07.2022)
Published in Genes (01.07.2022)
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Journal Article