Works matching AU Putoux, Audrey

Results: 30

MPDZ Pathogenic Variants Cause Obstructive Ventriculomegaly Related to Diencephalosynapsis and Third Ventricle Atresia.

Published in:

Genes, 2025, v. 16, n. 6, p. 707, doi. 10.3390/genes16060707

By:

Cabet, Sara;
Ghersi-Egea, Jean-François;
Khung-Savatovsky, Suonavy;
Guimiot, Fabien;
Putoux, Audrey;
Sabatier, Isabelle;
Fernandez, Carla;
Raymond, Laure;
Mortreux, Jérémie;
Laurichesse Delmas, Hélène;
Cuillier, Fabrice Eric;
Ho, Fabien;
Lesca, Gaetan;
Alessandri, Jean-Luc;
Guibaud, Laurent

Publication type:

Article

Classifying Ectopia Lentis in Marfan Syndrome into Five Grades of Increasing Severity.

Published in:

Journal of Clinical Medicine, 2020, v. 9, n. 3, p. 721, doi. 10.3390/jcm9030721

By:

Zech, Jean-Christophe;
Putoux, Audrey;
Decullier, Evelyne;
Fargeton, Anne-Emmanuelle;
Edery, Patrick;
Plauchu, Henri;
Dupuis-Girod, Sophie

Publication type:

Article

Molecular and clinical descriptions of patients with GABA<sub>A</sub> receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype–phenotype correlation.

Published in:

Epilepsia (Series 4), 2022, v. 63, n. 10, p. 2519, doi. 10.1111/epi.17336

By:

Maillard, Pierre‐Yves;
Baer, Sarah;
Schaefer, Élise;
Desnous, Béatrice;
Villeneuve, Nathalie;
Lépine, Anne;
Fabre, Alexandre;
Lacoste, Caroline;
El Chehadeh, Salima;
Piton, Amélie;
Porter, Louise Frances;
Perriard, Caroline;
Wardé, Marie‐Thérèse Abi;
Spitz, Marie‐Aude;
Laugel, Vincent;
Lesca, Gaëtan;
Putoux, Audrey;
Ville, Dorothée;
Mignot, Cyril;
Héron, Delphine

Publication type:

Article

The Phenotypic and Genotypic Spectrum of BRPF1‐Related Disorder: 29 New Patients and Literature Review.

Published in:

Clinical Genetics, 2025, v. 107, n. 5, p. 527, doi. 10.1111/cge.14688

By:

Colson, Cindy;
Tessarech, Marine;
Boucher‐Brischoux, Elise;
Boute‐Benejean, Odile;
Vincent‐Delorme, Catherine;
Vanlerberghe, Clémence;
Boussion, Simon;
Cunff, Justine Le;
Duban‐Bedu, Bénédicte;
Faivre, Laurence;
Thauvin, Christel;
Philippe, Christophe;
Bruel, Ange‐Line;
Tran Mau‐Them, Frédéric;
Houdayer, Clara;
Lesca, Gaetan;
Putoux, Audrey;
Lévy, Jonathan;
Patat, Olivier;
Rio, Marlène

Publication type:

Article

B‐cell immune deficiency in twin sisters expands the phenotype of MOPDI.

Published in:

Clinical Genetics, 2024, v. 106, n. 4, p. 476, doi. 10.1111/cge.14571

By:

Gauthier, Lucas W.;
Gossez, Morgane;
Malcus, Christophe;
Viel, Sébastien;
Monneret, Guillaume;
Bordonné, Remy;
Pons, Linda;
Cabet, Sara;
Delous, Marion;
Mazoyer, Sylvie;
Putoux, Audrey;
Edery, Patrick

Publication type:

Article

Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination.

Published in:

Clinical Genetics, 2023, v. 103, n. 4, p. 401, doi. 10.1111/cge.14291

By:

Masson, Julie;
Pebrel‐Richard, Céline;
Egloff, Matthieu;
Frétigny, Mathilde;
Beaumont, Marion;
Uguen, Kevin;
Rollat‐Farnier, Pierre‐Antoine;
Diguet, Flavie;
Perthus, Isabelle;
Le Gudayer, Gwenaël;
Haye, Damien;
Dupeyron, Marie‐Noëlle Bonnet;
Putoux, Audrey;
Raskin‐Champion, Fabienne;
Till, Marianne;
Chatron, Nicolas;
Doray, Bérénice;
Bardel, Claire;
Vinciguerra, Christine;
Sanlaville, Damien

Publication type:

Article

Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene.

Published in:

PLoS ONE, 2020, v. 15, n. 7, p. 1, doi. 10.1371/journal.pone.0235655

By:

Benoit-Pilven, Clara;
Besson, Alicia;
Putoux, Audrey;
Benetollo, Claire;
Saccaro, Clément;
Guguin, Justine;
Sala, Gabriel;
Cologne, Audric;
Delous, Marion;
Lesca, Gaetan;
Padgett, Richard A.;
Leutenegger, Anne-Louise;
Lacroix, Vincent;
Edery, Patrick;
Mazoyer, Sylvie

Publication type:

Article

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

Published in:

Nature Genetics, 2011, v. 43, n. 6, p. 601, doi. 10.1038/ng.826

By:

Putoux, Audrey;
Thomas, Sophie;
Coene, Karlien L. M.;
Davis, Erica E.;
Alanay, Yasemin;
Ogur, Gönül;
Uz, Elif;
Buzas, Daniela;
Gomes, Céline;
Patrier, Sophie;
Bennett, Christopher L.;
Elkhartoufi, Nadia;
Frison, Marie-Hélène Saint;
Rigonnot, Luc;
Joyé, Nicole;
Pruvost, Solenn;
Utine, Gulen Eda;
Boduroglu, Koray;
Nitschke, Patrick;
Fertitta, Laura

Publication type:

Article

A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism.

Published in:

Cytogenetic & Genome Research, 2020, v. 160, n. 2, p. 72, doi. 10.1159/000506319

By:

Monin, Pauline;
Reynaud, Nicolas;
Hanna, Nadine;
Dupuis-Girod, Sophie;
Till, Marianne;
arnaud, Pauline;
Labalme, audrey;
alix, Eudeline;
Poizat-amar, Coline;
Faoucher, Marie;
Ravella, Lucie;
Debost, Bernard;
Obadia, Jean-François;
Zech, Jean-Christophe;
Boileau, Catherine;
Sanlaville, Damien;
Edery, Patrick;
Putoux, audrey;
Schluth-Bolard, Caroline

Publication type:

Article

Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.

Published in:

Ophthalmic Genetics, 2022, v. 43, n. 6, p. 809, doi. 10.1080/13816810.2022.2144905

By:

Holt, Richard;
Goudie, David;
Verde, Alejandra Damián;
Gardham, Alice;
Ramond, Francis;
Putoux, Audrey;
Sarkar, Ajoy;
Clowes, Virginia;
Clayton-Smith, Jill;
Banka, Siddharth;
Cortazar Galarza, Laura;
Thuret, Gilles;
Ubeda Erviti, Marta;
Zurutuza Ibarguren, Ane;
Sáez Villaverde, Raquel;
Tamayo Durán, Alejandra;
Ayuso, Carmen;
Bax, Dorine A;
Plaisancie, Julie;
Corton, Marta

Publication type:

Article

X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant.

Published in:

Neurogenetics, 2021, v. 22, n. 1, p. 43, doi. 10.1007/s10048-020-00629-y

By:

Bousquet, Idriss;
Bozon, Muriel;
Castellani, Valérie;
Touraine, Renaud;
Piton, Amélie;
Gérard, Bénédicte;
Guibaud, Laurent;
Sanlaville, Damien;
Edery, Patrick;
Saugier-Veber, Pascale;
Putoux, Audrey

Publication type:

Article

Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy.

Published in:

EMBO Molecular Medicine, 2023, v. 15, n. 8, p. 1, doi. 10.15252/emmm.202216090

By:

Gerber, Sylvie;
Lessard, Lola;
Rouzier, Cécile;
Ait‐el‐Mkadem Saadi, Samira;
Ameli, Roxana;
Thobois, Stéphane;
Abouaf, Lucie;
Bouhour, Françoise;
Kaplan, Josseline;
Putoux, Audrey;
Pegat, Antoine;
Rozet, Jean‐Michel

Publication type:

Article

A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids.

Published in:

PLoS Genetics, 2024, v. 20, n. 12, p. 1, doi. 10.1371/journal.pgen.1011517

By:

Guguin, Justine;
Chen, Ting-Yu;
Cuinat, Silvestre;
Besson, Alicia;
Bertiaux, Eloïse;
Boutaud, Lucile;
Ardito, Nolan;
Imaz Murguiondo, Miren;
Cabet, Sara;
Hamel, Virginie;
Thomas, Sophie;
Pain, Bertrand;
Edery, Patrick;
Putoux, Audrey;
Tang, Tang K.;
Mazoyer, Sylvie;
Delous, Marion

Publication type:

Article

Prenatal imaging features related to RAC3 pathogenic variant and differential diagnoses.

Published in:

Prenatal Diagnosis, 2022, v. 42, n. 4, p. 478, doi. 10.1002/pd.6106

By:

Cabet, Sara;
Vasiljevic, Alexandre;
Putoux, Audrey;
Labalme, Audrey;
Sanlaville, Damien;
Chatron, Nicolas;
Lesca, Gaetan;
Guibaud, Laurent

Publication type:

Article

Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy.

Published in:

Prenatal Diagnosis, 2020, v. 40, n. 2, p. 276, doi. 10.1002/pd.5589

By:

Cabet, Sara;
Putoux, Audrey;
Buenerd, Annie;
Gueneau, Lucie;
Reymond, Alexandre;
Thia, Edwin W.H.;
Lai, Angeline H.M.;
Schindewolf, Erica M.;
Sanlaville, Damien;
Lesca, Gaetan;
Guibaud, Laurent

Publication type:

Article

Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy.

Published in:

2020

By:

Cabet, Sara;
Putoux, Audrey;
Buenerd, Annie;
Gueneau, Lucie;
Reymond, Alexandre;
Thia, Edwin W.H.;
Lai, Angeline H.M.;
Schindewolf, Erica M.;
Sanlaville, Damien;
Lesca, Gaetan;
Guibaud, Laurent

Publication type:

Letter

Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney.

Published in:

Pediatric Nephrology, 2012, v. 27, n. 1, p. 7, doi. 10.1007/s00467-010-1751-3

By:

Putoux, Audrey;
Attie-Bitach, Tania;
Martinovic, Jéléna;
Gubler, Marie-Claire

Publication type:

Article

Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complex.

Published in:

Nucleic Acids Research, 2023, v. 51, n. 2, p. 712, doi. 10.1093/nar/gkac1182

By:

Almentina Ramos Shidi, Fatimat;
Cologne, Audric;
Delous, Marion;
Besson, Alicia;
Putoux, Audrey;
Leutenegger, Anne-Louise;
Lacroix, Vincent;
Edery, Patrick;
Mazoyer, Sylvie;
Bordonné, Rémy

Publication type:

Article

GGCX‐related congenital combined vitamin K‐dependent clotting factors deficiency‐1: Description of a fetus with chondrodysplasia punctata.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 314, doi. 10.1002/ajmg.a.62503

By:

Mathonnet, Alix;
Cunat, Séverine;
Allias, Fabienne;
Caillot, Sandrine;
Thonnon, Cyrielle;
Till, Marianne;
Attié‐Bitach, Tania;
Touraine, Renaud;
Meunier, Sandrine;
Cartellier, Charline;
Rossi, Massimiliano;
Attia, Jocelyne;
Putoux, Audrey

Publication type:

Article

The first case report of medulloblastoma associated with Tatton‐Brown–Rahman syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1357, doi. 10.1002/ajmg.a.61180

By:

Sweeney, Kieron J.;
Mottolese, Carmine;
Belot, Alexandre;
Szathmari, Alexandru;
Frappaz, Didier;
Lesca, Gaetan;
Putoux, Audrey;
Di Rocco, Federico

Publication type:

Article

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2740, doi. 10.1002/ajmg.a.40662

By:

Lehalle, Daphné;
Altunoglu, Umut;
Bruel, Ange‐Line;
Assoum, Mirna;
Duffourd, Yannis;
Masurel, Alice;
Baujat, Geneviève;
Bessieres, Bettina;
Captier, Guillaume;
Edery, Patrick;
Elçioğlu, Nursel H.;
Geneviève, David;
Goldenberg, Alice;
Héron, Delphine;
Grotto, Sarah;
Marlin, Sandrine;
Putoux, Audrey;
Rossi, Massimiliano;
Saugier‐Veber, Pascale;
Triau, Stéphane

Publication type:

Article

A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1571, doi. 10.1002/ajmg.a.36484

By:

Dubruc, Estelle;
Putoux, Audrey;
Labalme, Audrey;
Rougeot, Christelle;
Sanlaville, Damien;
Edery, Patrick

Publication type:

Article

Jacobsen and Beckwith-Wiedemann syndromes in a child with mosaicism for partial 11pter trisomy and partial 11qter monosomy.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 331, doi. 10.1002/ajmg.a.35708

By:

Putoux, Audrey;
Labalme, Audrey;
André, Jean‐Marie;
Till, Marianne;
Schluth‐Bolard, Caroline;
Berard, Jérôme;
Bertrand, Yves;
Edery, Patrick;
Putet, Guy;
Sanlaville, Damien

Publication type:

Article

A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants.

Published in:

2019

By:

Chatron, Nicolas;
Cabet, Sara;
Alix, Eudeline;
Buenerd, Annie;
Cox, Phillip;
Guibaud, Laurent;
Labalme, Audrey;
Marks, Peter;
Osio, Deborah;
Putoux, Audrey;
Sanlaville, Damien;
Lesca, Gaetan;
Vasiljevic, Alexandre

Publication type:

journal article

Sensenbrenner syndrome: a further challenge in evaluating sagittal synostosis and a need for a multidisciplinary approach.

Published in:

Child's Nervous System, 2021, v. 37, n. 5, p. 1695, doi. 10.1007/s00381-021-05075-1

By:

Quinaux, Thomas;
Custodi, Viola;
Putoux, Audrey;
Bacchetta, Justine;
Rossi, Massimiliano;
Di Rocco, Federico

Publication type:

Article

Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 10, p. 1179, doi. 10.1002/pd.6623

By:

Thauvin‐Robinet, Christel;
Garde, Aurore;
Delanne, Julian;
Racine, Caroline;
Rousseau, Thierry;
Simon, Emmanuel;
François, Michel;
Moutton, Sebastien;
Sylvie, Odent;
Quelin, Chloe;
Morel, Godelieve;
Goldenberg, Alice;
Guerrot, Anne‐Marie;
Vera, Gabriella;
Gruchy, Nicolas;
Colson, Cindy;
Boute, Odile;
Abel, Carine;
Putoux, Audrey;
Amiel, Jeanne

Publication type:

Article

Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases.

Published in:

Human Mutation, 2022, v. 43, n. 3, p. 347, doi. 10.1002/humu.24324

By:

Jordan, Penelope;
Dorval, Guillaume;
Arrondel, Christelle;
Morinière, Vincent;
Tournant, Carole;
Audrezet, Marie‐Pierre;
Michel‐Calemard, Laurence;
Putoux, Audrey;
Lesca, Gaethan;
Labalme, Audrey;
Whalen, Sandra;
Loeuillet, Laurence;
Martinovic, Jelena;
Attie‐Bitach, Tania;
Bessières, Bettina;
Schaefer, Elise;
Scheidecker, Sophie;
Lambert, Laetitia;
Beneteau, Claire;
Patat, Olivier

Publication type:

Article

Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism.

Published in:

Birth Defects Research, 2024, v. 116, n. 7, p. 1, doi. 10.1002/bdr2.2380

By:

Pannier, Emmanuelle;
Sekri, Abel;
Roux, Nathalie;
Vasiljevic, Alexandre;
El Khattabi, Laïla;
Chatron, Nicolas;
Grotto, Sarah;
Menzella, Delphine;
Grangé, Gilles;
Thébault, Florent;
Massardier, Jérôme;
Fourrage, Cécile;
Lohmann, Laurence;
Tsatsaris, Vassilis;
Putoux, Audrey;
Boutaud, Lucile;
Attié‐Bitach, Tania

Publication type:

Article

Postnatal clinical phenotype of five patients with Pallister–Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 10, p. N.PAG, doi. 10.1002/mgg3.939

By:

Alqahtani, Amerh Salem;
Putoux, Audrey;
Bonnet Dupeyron, Marie Noelle;
Carneiro, Maryline;
Lion‐Francois, Laurence;
Rossi, Massimiliano;
Tevissen, Hélène;
Schluth Bolard, Caroline;
Labalme, Audrey;
Lesca, Gaetan;
Till, Marianne;
Edery, Patrick;
Sanlaville, Damien

Publication type:

Article

Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes in Kif7 depleted mice.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 6, p. 877, doi. 10.1093/hmg/ddy392

By:

Putoux, Audrey;
Baas, Dominique;
Paschaki, Marie;
Morlé, Laurette;
Maire, Charline;
Attié-Bitach, Tania;
Thomas, Sophie;
Durand, Bénédicte

Publication type:

Article