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Remission of steroid- and CyA-resistant nephrotic syndrome using multiple drug immunosuppression.
Published in:
Pediatric Nephrology, 2007, v. 22, n. 10, p. 1723, doi. 10.1007/s00467-007-0551-x
By:
- Ulinski, Tim;
- Perrin, Laurence;
- Guigonis, Vincent;
- Driss, Françoise;
- Deschênes, Georges;
- Bensman, Albert
Publication type:
Article
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 471, doi. 10.1038/ejhg.2013.189
By:
- Doco-Fenzy, Martine;
- Leroy, Camille;
- Schneider, Anouck;
- Petit, Florence;
- Delrue, Marie-Ange;
- Andrieux, Joris;
- Perrin-Sabourin, Laurence;
- Landais, Emilie;
- Aboura, Azzedine;
- Puechberty, Jacques;
- Girard, Manon;
- Tournaire, Magali;
- Sanchez, Elodie;
- Rooryck, Caroline;
- Ameil, Agnès;
- Goossens, Michel;
- Jonveaux, Philippe;
- Lefort, Geneviève;
- Taine, Laurence;
- Cailley, Dorothée
Publication type:
Article
The Prevalence of CHD7 Missense Versus Truncating Mutations Is Higher in Patients With Kallmann Syndrome Than in Typical CHARGE Patients.
Published in:
2014
By:
- Marcos, Séverine;
- Sarfati, Julie;
- Leroy, Chrystel;
- Fouveaut, Corinne;
- Parent, Philippe;
- Metz, Chantal;
- Wolczynski, Slawomir;
- Gérard, Marion;
- Bieth, Eric;
- Kurtz, François;
- Verier-Mine, Odile;
- Perrin, Laurence;
- Archambeaud, Françoise;
- Cabrol, Sylvie;
- Rodien, Patrice;
- Hove, Hanne;
- Prescott, Trine;
- Lacombe, Didier;
- Christin-Maitre, Sophie;
- Touraine, Philippe
Publication type:
Journal Article
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome with Renal Failure: Impact of Posttransplant Immunosuppression on Disease Activity.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 1, p. 192, doi. 10.1210/jc.2005-1538
By:
- Ulinski, Tim;
- Perrin, Laurence;
- Morris, Michael;
- Houang, Muriel;
- Cabrol, Sylvie;
- Grapin, Christine;
- Chabbert-Buffet, Nathalie;
- Bensman, Albert;
- Deschênes, Georges;
- Giurgea, Irina
Publication type:
Article
Acute pancreatitis in paediatric systemic lupus erythematosus.
Published in:
Acta Paediatrica, 2006, v. 95, n. 1, p. 121, doi. 10.1080/08035250500325090
By:
- Perrin, Laurence;
- Giurgea, Irina;
- Baudet-Bonneville, Valérie;
- Deschênes, Georges;
- Bensman, Albert;
- Ulinski, Tim
Publication type:
Article
Correction: Olfactory bulb anomalies in KBG syndrome mouse model and patients.
Published in:
2024
By:
- Goodkey, Kara;
- Wischmeijer, Anita;
- Perrin, Laurence;
- Watson, Adrianne E. S.;
- Qureshi, Leenah;
- Cordelli, Duccio Maria;
- Toni, Francesco;
- Gnazzo, Maria;
- Benedicenti, Francesco;
- Elmaleh‑Berges, Monique;
- Low, Karen J.;
- Voronova, Anastassia
Publication type:
Correction Notice
Correction: Olfactory bulb anomalies in KBG syndrome mouse model and patients.
Published in:
2024
By:
- Goodkey, Kara;
- Wischmeijer, Anita;
- Perrin, Laurence;
- Watson, Adrianne E. S.;
- Qureshi, Leenah;
- Cordelli, Duccio Maria;
- Toni, Francesco;
- Gnazzo, Maria;
- Benedicenti, Francesco;
- Elmaleh‑Berges, Monique;
- Low, Karen J.;
- Voronova, Anastassia
Publication type:
Correction Notice
Olfactory bulb anomalies in KBG syndrome mouse model and patients.
Published in:
BMC Medicine, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12916-024-03363-6
By:
- Goodkey, Kara;
- Wischmeijer, Anita;
- Perrin, Laurence;
- Watson, Adrianne E. S.;
- Qureshi, Leenah;
- Cordelli, Duccio Maria;
- Toni, Francesco;
- Gnazzo, Maria;
- Benedicenti, Francesco;
- Elmaleh-Bergès, Monique;
- Low, Karen J.;
- Voronova, Anastassia
Publication type:
Article
Olfactory bulb anomalies in KBG syndrome mouse model and patients.
Published in:
BMC Medicine, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12916-024-03363-6
By:
- Goodkey, Kara;
- Wischmeijer, Anita;
- Perrin, Laurence;
- Watson, Adrianne E. S.;
- Qureshi, Leenah;
- Cordelli, Duccio Maria;
- Toni, Francesco;
- Gnazzo, Maria;
- Benedicenti, Francesco;
- Elmaleh-Bergès, Monique;
- Low, Karen J.;
- Voronova, Anastassia
Publication type:
Article
Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.
Published in:
Molecular Autism, 2015, v. 6, n. 1, p. 1, doi. 10.1186/s13229-015-0015-2
By:
- Tabet, Anne-Claude;
- Verloes, Alain;
- Pilorge, Marion;
- Delaby, Elsa;
- Delorme, Richard;
- Nygren, Gudrun;
- Devillard, Françoise;
- Gérard, Marion;
- Passemard, Sandrine;
- Héron, Delphine;
- Siffroi, Jean-Pierre;
- Jacquette, Aurelia;
- Delahaye, Andrée;
- Perrin, Laurence;
- Dupont, Céline;
- Aboura, Azzedine;
- Bitoun, Pierre;
- Coleman, Mary;
- Leboyer, Marion;
- Gillberg, Christopher
Publication type:
Article
Phenotypical variability and atypical presentations in a French cohort of Andersen–Tawil syndrome.
Published in:
European Journal of Neurology, 2022, v. 29, n. 8, p. 2398, doi. 10.1111/ene.15369
By:
- Villar‐Quiles, Rocio Nur;
- Sternberg, Damien;
- Tredez, Grégoire;
- Beatriz Romero, Norma;
- Evangelista, Teresinha;
- Lafôret, Pascal;
- Cintas, Pascal;
- Sole, Guilhem;
- Sacconi, Sabrina;
- Bendahhou, Said;
- Franques, Jérôme;
- Cances, Claude;
- Noury, JB;
- Delmont, Emilien;
- Blondy, Patricia;
- Perrin, Laurence;
- Hezode, Marianne;
- Fournier, Emmanuel;
- Fontaine, Bertrand;
- Stojkovic, Tanya
Publication type:
Article
Homozygous MFN2 variants causing severe antenatal encephalopathy with clumped mitochondria.
Published in:
Brain: A Journal of Neurology, 2024, v. 147, n. 1, p. 91, doi. 10.1093/brain/awad347
By:
- Chevrollier, Arnaud;
- Bonnard, Adeline Alice;
- Ruaud, Lyse;
- Gueguen, Naïg;
- Perrin, Laurence;
- Desquiret-Dumas, Valérie;
- Guimiot, Fabien;
- Becker, Pierre-Hadrien;
- Levy, Jonathan;
- Reynier, Pascal;
- Gaignard, Pauline
Publication type:
Article
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Published in:
2017
By:
- Wolff, Markus;
- Johannesen, Katrine M;
- Hedrich, Ulrike B S;
- Masnada, Silvia;
- Rubboli, Guido;
- Gardella, Elena;
- Lesca, Gaetan;
- Ville, Dorothée;
- Milh, Mathieu;
- Villard, Laurent;
- Afenjar, Alexandra;
- Chantot-Bastaraud, Sandra;
- Mignot, Cyril;
- Lardennois, Caroline;
- Nava, Caroline;
- Schwarz, Niklas;
- Gérard, Marion;
- Perrin, Laurence;
- Doummar, Diane;
- Auvin, Stéphane
Publication type:
journal article
Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
Published in:
2019
By:
- Tabet, Anne-Claude;
- Rolland, Thomas;
- Ducloy, Marie;
- Lévy, Jonathan;
- Buratti, Julien;
- Mathieu, Alexandre;
- Haye, Damien;
- Perrin, Laurence;
- Dupont, Céline;
- Passemard, Sandrine;
- Capri, Yline;
- Verloes, Alain;
- Drunat, Séverine;
- Keren, Boris;
- Mignot, Cyril;
- Marey, Isabelle;
- Jacquette, Aurélia;
- Whalen, Sandra;
- Pipiras, Eva;
- Benzacken, Brigitte
Publication type:
Correction Notice
A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
Published in:
NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0035-2
By:
- Tabet, Anne-Claude;
- Rolland, Thomas;
- Ducloy, Marie;
- Lévy, Jonathan;
- Buratti, Julien;
- Mathieu, Alexandre;
- Haye, Damien;
- Perrin, Laurence;
- Dupont, Céline;
- Passemard, Sandrine;
- Capri, Yline;
- Verloes, Alain;
- Drunat, Séverine;
- Keren, Boris;
- Mignot, Cyril;
- Marey, Isabelle;
- Jacquette, Aurélia;
- Whalen, Sandra;
- Pipiras, Eva;
- Benzacken, Brigitte
Publication type:
Article
A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
Published in:
NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0035-2
By:
- Tabet, Anne-Claude;
- Rolland, Thomas;
- Ducloy, Marie;
- Lévy, Jonathan;
- Buratti, Julien;
- Mathieu, Alexandre;
- Haye, Damien;
- Perrin, Laurence;
- Dupont, Céline;
- Passemard, Sandrine;
- Capri, Yline;
- Verloes, Alain;
- Drunat, Séverine;
- Keren, Boris;
- Mignot, Cyril;
- Marey, Isabelle;
- Jacquette, Aurélia;
- Whalen, Sandra;
- Pipiras, Eva;
- Benzacken, Brigitte
Publication type:
Article
New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome.
Published in:
BMC Medical Genomics, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s12920-019-0555-y
By:
- Chater-Diehl, Eric;
- Ejaz, Resham;
- Cytrynbaum, Cheryl;
- Siu, Michelle T.;
- Turinsky, Andrei;
- Choufani, Sanaa;
- Goodman, Sarah J.;
- Abdul-Rahman, Omar;
- Bedford, Melanie;
- Dorrani, Naghmeh;
- Engleman, Kendra;
- Flores-Daboub, Josue;
- Genevieve, David;
- Mendoza-Londono, Roberto;
- Meschino, Wendy;
- Perrin, Laurence;
- Safina, Nicole;
- Townshend, Sharron;
- Scherer, Stephen W.;
- Anagnostou, Evdokia
Publication type:
Article
Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1252, doi. 10.1002/ajmg.a.36932
By:
- El Khattabi, Laïla;
- Jaillard, Sylvie;
- Andrieux, Joris;
- Pasquier, Laurent;
- Perrin, Laurence;
- Capri, Yline;
- Benmansour, Abdelmadjid;
- Toutain, Annick;
- Marcorelles, Pascale;
- Vincent‐Delorme, Catherine;
- Journel, Hubert;
- Henry, Catherine;
- De Barace, Claire;
- Devisme, Louise;
- Dubourg, Christèle;
- Demurger, Florence;
- Lucas, Josette;
- Belaud‐Rotureau, Marc‐Antoine;
- Amiel, Jeanne;
- Malan, Valérie
Publication type:
Article
Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2277, doi. 10.1002/ajmg.a.35494
By:
- Rambaud, Jérôme;
- Marey, Isabelle;
- Dupont, Céline;
- Perrin-Sabourin, Laurence;
- Capri, Yline;
- Tabet, Anne Claude;
- Benzacken, Brigitte;
- Verloes, Alain;
- Aboura, Azzedine;
- Gérard, Marion
Publication type:
Article
Pseudoaminopterin syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2233, doi. 10.1002/ajmg.a.35212
By:
- Kraoua, Lilia;
- Capri, Yline;
- Perrin, Laurence;
- Benmansour, Abdelmajjid;
- Verloes, Alain
Publication type:
Article
Cerebral dural arteriovenous fistulas in patients with PTEN‐related hamartoma tumor syndrome.
Published in:
Clinical Genetics, 2024, v. 106, n. 1, p. 90, doi. 10.1111/cge.14515
By:
- Gerasimenko, Anna;
- Mignot, Cyril;
- Naggara, Olivier;
- Coulet, Florence;
- Ekram, Samar;
- Heide, Solveig;
- Sorato, Clarisse;
- Mazowiecki, Maxime;
- Perrin, Laurence;
- Colas, Chrystelle;
- Cusin, Veronica;
- Caux, Frédéric;
- Dardenne, Antoine;
- El Chehadeh, Salima;
- Verloes, Alain;
- Maurey, Hélène;
- Afenjar, Alexandra;
- Petit, Florence;
- Barete, Stéphane;
- Boespflug‐Tanguy, Odile
Publication type:
Article
Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations.
Published in:
Clinical Genetics, 2021, v. 99, n. 3, p. 407, doi. 10.1111/cge.13894
By:
- Garde, Aurore;
- Cornaton, Jenny;
- Sorlin, Arthur;
- Moutton, Sébastien;
- Nicolas, Claire;
- Juif, Christine;
- Geneviève, David;
- Perrin, Laurence;
- Khau‐Van‐Kien, Philippe;
- Smol, Thomas;
- Vincent‐Delorme, Catherine;
- Isidor, Bertrand;
- Cogné, Benjamin;
- Afenjar, Alexandra;
- Keren, Boris;
- Coubes, Christine;
- Prieur, Fabienne;
- Toutain, Annick;
- Trousselet, Yann;
- Bourgouin, Solène
Publication type:
Article
NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients.
Published in:
EMBO Journal, 2020, v. 39, n. 13, p. 1, doi. 10.15252/embj.2019104163
By:
- Bertacchi, Michele;
- Romano, Anna Lisa;
- Loubat, Agnès;
- Tran Mau‐Them, Frederic;
- Willems, Marjolaine;
- Faivre, Laurence;
- Khau van Kien, Philippe;
- Perrin, Laurence;
- Devillard, Françoise;
- Sorlin, Arthur;
- Kuentz, Paul;
- Philippe, Christophe;
- Garde, Aurore;
- Neri, Francesco;
- Di Giaimo, Rossella;
- Oliviero, Salvatore;
- Cappello, Silvia;
- D'Incerti, Ludovico;
- Frassoni, Carolina;
- Studer, Michèle
Publication type:
Article

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