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Glycogen Storage Disease Type IV and Early Implantation Defect: Early Trophoblastic Involvement Associated with a New GBE1 Mutation.
Published in:
Pediatric & Developmental Pathology, 2016, v. 19, n. 6, p. 512, doi. 10.2350/14-09-1557-CR.1
By:
- Dainese, Linda;
- Adam, Nicolas;
- Boudjemaa, Sabah;
- Hadid, Kamel;
- Rosenblatt, Jonathan;
- Jouannic, Jean-Marie;
- Heron, Delphine;
- Froissart, Roseline;
- Coulomb, Aurore
Publication type:
Article
Early diagnosis of Maroteaux-Lamy syndrome in two patients with accelerated growth and advanced bone maturation.
Published in:
2004
By:
- Heron, Delphine;
- Baumann, Clarisse;
- Jacques, Jean;
- Jean, Benichou;
- Harpey, Paul;
- Merrer, Martine Le;
- Benichou, Jean Jacques;
- Harpey, Jean Paul;
- Le Merrer, Martine
Publication type:
journal article
Difficulties adapting to Nail‐Patella syndrome: A qualitative study of patients' perspectives.
Published in:
Journal of Genetic Counseling, 2019, v. 28, n. 5, p. 1011, doi. 10.1002/jgc4.1153
By:
- Geerts‐Crabbé, Laura;
- Antoine, Pascal;
- Brugallé, Elodie;
- Ghoumid, Jamal;
- Bellengier, Laurence;
- Edery, Patrick;
- Heron, Delphine;
- Manouvrier‐Hanu, Sylvie;
- Fantini‐Hauwel, Carole
Publication type:
Article
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-80
By:
- Milh, Mathieu;
- Boutry-Kryza, Nadia;
- Sutera-Sardo, Julie;
- Mignot, Cyril;
- Auvin, Stéphane;
- Lacoste, Caroline;
- Villeneuve, Nathalie;
- Roubertie, Agathe;
- Heron, Bénédicte;
- Carneiro, Maryline;
- Kaminska, Anna;
- Altuzarra, Cécilia;
- Blanchard, Gaëlle;
- Ville, Dorothée;
- Barthez, Marie Anne;
- Heron, Delphine;
- Gras, Domitille;
- Afenjar, Alexandra;
- Dorison, Nathalie;
- Doummar, Dianne
Publication type:
Article
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.
Published in:
2013
By:
- Milh, Mathieu;
- Boutry-Kryza, Nadia;
- Sutera-Sardo, Julie;
- Mignot, Cyril;
- Auvin, Stéphane;
- Lacoste, Caroline;
- Villeneuve, Nathalie;
- Roubertie, Agathe;
- Heron, Bénédicte;
- Carneiro, Maryline;
- Kaminska, Anna;
- Altuzarra, Cécilia;
- Blanchard, Gaëlle;
- Ville, Dorothée;
- Barthez, Marie Anne;
- Heron, Delphine;
- Gras, Domitille;
- Afenjar, Alexandra;
- Dorison, Nathalie;
- Doummar, Dianne
Publication type:
journal article
Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures.
Published in:
2019
By:
- Maljevic, Snezana;
- Keren, Boris;
- Aung, Ye Htet;
- Forster, Ian C;
- Mignot, Cyril;
- Buratti, Julien;
- Lafitte, Aurélie;
- Freihuber, Cécile;
- Rodan, Lance H;
- Bergin, Ann;
- Hubert, Laurence;
- Poirier, Karine;
- Munnich, Arnold;
- Besmond, Claude;
- Hauser, Natalie;
- Miller, Rebecca;
- McWalter, Kirsty;
- Nabbout, Rima;
- Héron, Delphine;
- Leguern, Eric
Publication type:
Letter
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
The three stages of epilepsy in patients with CDKL5 mutations.
Published in:
Epilepsia (Series 4), 2008, v. 49, n. 6, p. 1027, doi. 10.1111/j.1528-1167.2007.01520.x
By:
- Bahi-Buisson, Nadia;
- Kaminska, Anna;
- Boddaert, Nathalie;
- Rio, Marlène;
- Afenjar, Alexandra;
- Gérard, Marion;
- Giuliano, Fabienne;
- Motte, Jacques;
- Héron, Delphine;
- Morel, Marie Ange N'Guyen;
- Plouin, Perrine;
- Richelme, Christian;
- des Portes, Vincent;
- Dulac, Olivier;
- Philippe, Christophe;
- Chiron, Catherine;
- Nabbout, Rima;
- Bienvenu, Thierry
Publication type:
Article
Spectrum of epilepsy in terminal 1p36 deletion syndrome.
Published in:
Epilepsia (Series 4), 2008, v. 49, n. 3, p. 509, doi. 10.1111/j.1528-1167.2007.01424.x
By:
- Bahi-Buisson, Nadia;
- Guttierrez-Delicado, Eva;
- Soufflet, Christine;
- Rio, Marlène;
- Cormier Daire, Valérie;
- Lacombe, Didier;
- Héron, Delphine;
- Verloes, Alain;
- Zuberi, Sameer;
- Burglen, Lydie;
- Afenjar, Alexandra;
- Moutard, Marie Laure;
- Edery, Patrick;
- Novelli, Antonio;
- Bernardini, Laura;
- Dulac, Olivier;
- Nabbout, Rima;
- Plouin, Perrine;
- Battaglia, Agatino
Publication type:
Article
SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 509, doi. 10.1002/ajmg.c.31746
By:
- Marzin, Pauline;
- Rondeau, Sophie;
- Aldinger, Kimberly A.;
- Alessandri, Jean‐Luc;
- Isidor, Bertrand;
- Heron, Delphine;
- Keren, Boris;
- Dobyns, William B.;
- Cormier‐Daire, Valérie
Publication type:
Article
Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63479
By:
- Quilichini, Juliette;
- Perol, Sandrine;
- Cuisset, Laurence;
- Grotto, Sarah;
- Fouveaut, Corinne;
- Barbot, Jean Claude;
- Verebi, Camille;
- Jordan, Pénélope;
- Héron, Delphine;
- Molina‐Gomes, Denise;
- Pipiras, Eva;
- Grynberg, Michael;
- Catteau‐Jonard, Sophie;
- Touraine, Philippe;
- Christin‐Maître, Sophie;
- Plu‐Bureau, Geneviève;
- El Khattabi, Laila;
- Bienvenu, Thierry
Publication type:
Article
Growth charts in DYRK1A syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 9, doi. 10.1002/ajmg.a.63412
By:
- Lanvin, Pierre‐Louis;
- Goronflot, Thomas;
- Isidor, Bertrand;
- Nizon, Mathilde;
- Durand, Benjamin;
- El Chehadeh, Salima;
- Geneviève, David;
- Ruault, Valentin;
- Fradin, Mélanie;
- Pasquier, Laurent;
- Thévenon, Julien;
- Delobel, Bruno;
- Burglen, Lydie;
- Afenjar, Alexandra;
- Faivre, Laurence;
- Francannet, Christine;
- Guerrot, Anne‐Marie;
- Goldenberg, Alice;
- Mercier, Sandra;
- Héron, Delphine
Publication type:
Article
Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2036, doi. 10.1002/ajmg.a.62739
By:
- Lehalle, Daphné;
- Bruel, Ange‐Line;
- Vitobello, Antonio;
- Denommé‐Pichon, Anne‐Sophie;
- Duffourd, Yannis;
- Assoum, Mirna;
- Amiel, Jeanne;
- Baujat, Geneviève;
- Bessieres, Bettina;
- Bigoni, Stefania;
- Burglen, Lydie;
- Captier, Guillaume;
- Dard, Rodolphe;
- Edery, Patrick;
- Fortunato, Fernanda;
- Geneviève, David;
- Goldenberg, Alice;
- Guibaud, Laurent;
- Héron, Delphine;
- Holder‐Espinasse, Muriel
Publication type:
Article
Syndromic neurodevelopmental disorder associated with de novo variants in DDX23.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2863, doi. 10.1002/ajmg.a.62359
By:
- Burns, William;
- Bird, Lynne M.;
- Heron, Delphine;
- Keren, Boris;
- Ramachandra, Divya;
- Thiffault, Isabelle;
- Del Viso, Florencia;
- Amudhavalli, Shivarajan;
- Engleman, Kendra;
- Parenti, Ilaria;
- Kaiser, Frank J.;
- Wierzba, Jolanta;
- Riedhammer, Korbinian M.;
- Liptay, Susanne;
- Zadeh, Neda;
- Porrmann, Joseph;
- Fischer, Andrea;
- Gößwein, Sophie;
- McLaughlin, Heather M.;
- Telegrafi, Aida
Publication type:
Article
De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 962, doi. 10.1002/ajmg.a.61505
By:
- Chilton, Ilana;
- Okur, Volkan;
- Vitiello, Giuseppina;
- Selicorni, Angelo;
- Mariani, Milena;
- Goldenberg, Alice;
- Husson, Thomas;
- Campion, Dominique;
- Lichtenbelt, Klaske D.;
- Gassen, Koen;
- Steinraths, Michelle;
- Rice, Jennifer;
- Roeder, Elizabeth R.;
- Littlejohn, Rebecca O.;
- Srour, Myriam;
- Sebire, Guillaume;
- Accogli, Andrea;
- Héron, Delphine;
- Heide, Solveig;
- Nava, Caroline
Publication type:
Article
Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 565, doi. 10.1002/ajmg.a.61384
By:
- Tessarech, Marine;
- Gorce, Magali;
- Boussion, Françoise;
- Bault, Jean‐Philippe;
- Triau, Stéphane;
- Charif, Majida;
- Khiaty, Salim;
- Delorme, Benoit;
- Guichet, Agnès;
- Ziegler, Alban;
- Bris, Céline;
- Laquerrière, Annie;
- Fallet‐Bianco, Catherine;
- Jacquette, Aurélia;
- Salhi, Houria;
- Héron, Delphine;
- Reynier, Pascal;
- Procaccio, Vincent;
- Bonneau, Dominique;
- Colin, Estelle
Publication type:
Article
Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1276, doi. 10.1002/ajmg.a.61173
By:
- Stolerman, Elliot S.;
- Francisco, Elizabeth;
- Stallworth, Jennifer L.;
- Jones, Julie R.;
- Monaghan, Kristin G.;
- Keller‐Ramey, Jennifer;
- Person, Richard;
- Wentzensen, Ingrid M.;
- McWalter, Kirsty;
- Keren, Boris;
- Heron, Benedicte;
- Nava, Caroline;
- Heron, Delphine;
- Kim, Katherine;
- Burton, Barbara;
- Al‐Musafri, Fatima;
- O'Grady, Lauren;
- Sahai, Inderneel;
- Escobar, Luis F.;
- Meuwissen, Marije
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
Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 62, doi. 10.1002/ajmg.a.37969
By:
- Gauthier‐Vasserot, Alexandra;
- Thauvin‐Robinet, Christel;
- Bruel, Ange‐Line;
- Duffourd, Yannis;
- St‐Onge, Judith;
- Jouan, Thibaud;
- Rivière, Jean‐Baptiste;
- Heron, Delphine;
- Donadieu, Jean;
- Bellanné‐Chantelot, Christine;
- Briandet, Claire;
- Huet, Frédéric;
- Kuentz, Paul;
- Lehalle, Daphné;
- Duplomb‐Jego, Laurence;
- Gautier, Elodie;
- Maystadt, Isabelle;
- Pinson, Lucile;
- Amram, Daniel;
- El Chehadeh, Salima
Publication type:
Article
Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 111, doi. 10.1002/ajmg.a.36807
By:
- Nizon, Mathilde;
- Andrieux, Joris;
- Rooryck, Caroline;
- de Blois, Marie‐Christine;
- Bourel‐Ponchel, Emilie;
- Bourgois, Béatrice;
- Boute, Odile;
- David, Albert;
- Delobel, Bruno;
- Duban‐Bedu, Bénédicte;
- Giuliano, Fabienne;
- Goldenberg, Alice;
- Grotto, Sarah;
- Héron, Delphine;
- Karmous‐Benailly, Houda;
- Keren, Boris;
- Lacombe, Didier;
- Lapierre, Jean‐Michel;
- Le Caignec, Cédric;
- Le Galloudec, Eric
Publication type:
Article
Deletion of filamin A in two female patients with periventricular nodular heterotopia.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1512, doi. 10.1002/ajmg.a.35409
By:
- Chardon, Jodi Warman;
- Mignot, Cyril;
- Aradhya, Swaroop;
- Keren, Boris;
- Afenjar, Alexandra;
- Kaminska, Anna;
- Beldjord, Cherif;
- Héron, Delphine;
- Boycott, Kym M.
Publication type:
Article
Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3170, doi. 10.1002/ajmg.a.34334
By:
- Piard, Juliette;
- Depienne, Christel;
- Keren, Boris;
- Fédirko, Estelle;
- Trouillard, Oriane;
- Charles, Perrine;
- Heron, Delphine
Publication type:
Article
Séquençage de l'exome ou du génome et données additionnelles: Quels enjeux pour la génétique médicale ?
Published in:
Médecine Sciences, 2024, v. 40, n. 4, p. 377, doi. 10.1051/medsci/2024029
By:
- Amiel, Jeanne;
- Héron, Delphine;
- Isidor, Bertrand
Publication type:
Article
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
Published in:
Nature Genetics, 2012, v. 44, n. 1, p. 85, doi. 10.1038/ng.1016
By:
- Le Goff, Carine;
- Mahaut, Clémentine;
- Abhyankar, Avinash;
- Le Goff, Wilfried;
- Serre, Valérie;
- Afenjar, Alexandra;
- Destrée, Anne;
- di Rocco, Maja;
- Héron, Delphine;
- Jacquemont, Sébastien;
- Marlin, Sandrine;
- Simon, Marleen;
- Tolmie, John;
- Verloes, Alain;
- Casanova, Jean-Laurent;
- Munnich, Arnold;
- Cormier-Daire, Valérie
Publication type:
Article
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.
Published in:
Nature Genetics, 2007, v. 39, n. 1, p. 25, doi. 10.1038/ng1933
By:
- Durand, Christelle M;
- Betancur, Catalina;
- Boeckers, Tobias M;
- Bockmann, Juergen;
- Chaste, Pauline;
- Fauchereau, Fabien;
- Nygren, Gudrun;
- Rastam, Maria;
- Gillberg, I Carina;
- Anckarsäter, Henrik;
- Sponheim, Eili;
- Goubran-Botros, Hany;
- Delorme, Richard;
- Chabane, Nadia;
- Mouren-Simeoni, Marie-Christine;
- de Mas, Philippe;
- Bieth, Eric;
- Rogé, Bernadette;
- Héron, Delphine;
- Burglen, Lydie
Publication type:
Article
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
Published in:
Nature Genetics, 2006, v. 38, n. 3, p. 294, doi. 10.1038/ng1749
By:
- Niihori, Tetsuya;
- Aoki, Yoko;
- Narumi, Yoko;
- Neri, Giovanni;
- Cavé, Hélène;
- Verloes, Alain;
- Okamoto, Nobuhiko;
- Hennekam, Raoul C. M.;
- Gillessen-Kaesbach, Gabriele;
- Wieczorek, Dagmar;
- Kavamura, Maria Ines;
- Kurosawa, Kenji;
- Ohashi, Hirofumi;
- Wilson, Louise;
- Heron, Delphine;
- Bonneau, Dominique;
- Corona, Giuseppina;
- Kaname, Tadashi;
- Naritomi, Kenji;
- Baumann, Clarisse
Publication type:
Article
Psychiatric and cognitive phenotype in children and adolescents with myotonic dystrophy.
Published in:
European Child & Adolescent Psychiatry, 2009, v. 18, n. 12, p. 705, doi. 10.1007/s00787-009-0037-4
By:
- Douniol, Marie;
- Jacquette, Aurélia;
- Guilé, Jean-Marc;
- Tanguy, Marie-Laure;
- Angeard, Nathalie;
- Héron, Delphine;
- Plaza, Monique;
- Cohen, David
Publication type:
Article
Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.
Published in:
Developmental Medicine & Child Neurology, 2019, v. 61, n. 12, p. 1439, doi. 10.1111/dmcn.14332
By:
- Remerand, Ganaelle;
- Boespflug‐Tanguy, Odile;
- Tonduti, Davide;
- Touraine, Renaud;
- Rodriguez, Diana;
- Curie, Aurore;
- Perreton, Nathalie;
- Des Portes, Vincent;
- Sarret, Catherine;
- Afenjar, Alexandra;
- Burglen, Lydie;
- Castellotti, Barbara;
- Cuntz, Danielle;
- Desguerre, Isabelle;
- Doummar, Diane;
- Estienne, Margherita;
- Freri, Elena;
- Heron, Delphine;
- Moutard, Marie‐Laure;
- Novara, Francesca
Publication type:
Article
Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1.
Published in:
Developmental Medicine & Child Neurology, 2012, v. 54, n. 10, p. 905, doi. 10.1111/j.1469-8749.2012.04379.x
By:
- DOUNIOL, MARIE;
- JACQUETTE, AURÉLIA;
- COHEN, DAVID;
- BODEAU, NICOLAS;
- RACHIDI, LINDA;
- ANGEARD, NATHALIE;
- CUISSET, JEAN-MARIE;
- VALLÉE, LOUIS;
- EYMARD, BRUNO;
- PLAZA, MONIQUE;
- HÉRON, DELPHINE;
- GUILÉ, JEAN-MARC
Publication type:
Article
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
Published in:
Human Genetics, 2018, v. 137, n. 9, p. 753, doi. 10.1007/s00439-018-1929-5
By:
- Bramswig, Nuria C.;
- Bertoli-Avella, Aida M.;
- Albrecht, Beate;
- Al Aqeel, Aida I.;
- Alhashem, Amal;
- Al-Sannaa, Nouriya;
- Bah, Maissa;
- Bröhl, Katharina;
- Depienne, Christel;
- Dorison, Nathalie;
- Doummar, Diane;
- Ehmke, Nadja;
- Elbendary, Hasnaa M.;
- Gorokhova, Svetlana;
- Héron, Delphine;
- Horn, Denise;
- James, Kiely;
- Keren, Boris;
- Kuechler, Alma;
- Ismail, Samira
Publication type:
Article
The first large duplication of the RSK2 gene identified in a Coffin-Lowry syndrome patient.
Published in:
Human Genetics, 2007, v. 122, n. 5, p. 541, doi. 10.1007/s00439-007-0424-1
By:
- Marques Pereira, Patricia;
- Heron, Delphine;
- Hanauer, André
Publication type:
Article
Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy.
Published in:
2018
By:
- Biancalana, Valérie;
- Romero, Norma B.;
- Thuestad, Inger Johanne;
- Ignatius, Jaakko;
- Kataja, Janne;
- Gardberg, Maria;
- Héron, Delphine;
- Malfatti, Edoardo;
- Oldfors, Anders;
- Laporte, Jocelyn
Publication type:
Letter
Two Novel Cases of Resistance to Thyroid Hormone Due to THRA Mutation.
Published in:
Thyroid, 2020, v. 30, n. 8, p. 1217, doi. 10.1089/thy.2019.0602
By:
- le Maire, Albane;
- Bouhours-Nouet, Natacha;
- Soamalala, Jessica;
- Mirebeau-Prunier, Delphine;
- Paloni, Matteo;
- Guee, Laura;
- Heron, Delphine;
- Mignot, Cyril;
- Illouz, Frédéric;
- Joubert, Florence;
- Briet, Claire;
- Rodien, Patrice;
- Bourguet, William;
- Flamant, Frédéric;
- Guyot, Romain
Publication type:
Article
Brief Report: Visual–Spatial Deficit in a 16-year-old Girl with Maternally derived Duplication of Proximal 15q.
Published in:
2007
By:
- Cohen, David;
- Martel, Claire;
- Wilson, Anna;
- Déchambre, Nicole;
- Amy, Céline;
- Duverger, Ludovic;
- Guile, Jean-Marc;
- Pipiras, Eva;
- Benzacken, Brigitte;
- Cavé, Hélène;
- Cohen, Laurent;
- Héron, Delphine;
- Plaza, Monique
Publication type:
Correction Notice
Brief Report: Visual-Spatial Deficit in a 16-year-old Girl with Maternally Derived Duplication of Proximal 15q.
Published in:
Journal of Autism & Developmental Disorders, 2007, v. 37, n. 8, p. 1585, doi. 10.1007/s10803-006-0228-5
By:
- Cohen, David;
- Martel, Claire;
- Wilson, Anna;
- Déchambre, Nicole;
- Amy, Céline;
- Duverger, Ludovic;
- Guile, Jean-Marc;
- Pipiras, Eva;
- Benzacken, Brigitte;
- Cavé, Hélène;
- Cohen, Laurent;
- Héron, Delphine;
- Plaza, Monique
Publication type:
Article
Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification.
Published in:
Journal of Autism & Developmental Disorders, 2005, v. 35, n. 1, p. 103, doi. 10.1007/s10803-004-1038-2
By:
- Cohen, David;
- Pichard, Nadège;
- Tordjman, Sylvie;
- Baumann, Clarisse;
- Burglen, Lydie;
- Excoffier, Elsa;
- Lazar, Gabriela;
- Mazet, Philippe;
- Pinquier, Clément;
- Verloes, Alain;
- Héron, Delphine
Publication type:
Article
Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1272, doi. 10.1038/ejhg.2013.288
By:
- Michot, Caroline;
- Le Goff, Carine;
- Mahaut, Clémentine;
- Afenjar, Alexandra;
- Brooks, Alice S;
- Campeau, Philippe M;
- Destree, Anne;
- Di Rocco, Maja;
- Donnai, Dian;
- Hennekam, Raoul;
- Heron, Delphine;
- Jacquemont, Sébastien;
- Kannu, Peter;
- Lin, Angela E;
- Manouvrier-Hanu, Sylvie;
- Mansour, Sahar;
- Marlin, Sandrine;
- McGowan, Ruth;
- Murphy, Helen;
- Raas-Rothschild, Annick
Publication type:
Article
Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1340, doi. 10.1038/ejhg.2014.182
By:
- Michot, Caroline;
- Le Goff, Carine;
- Mahaut, Clémentine;
- Afenjar, Alexandra;
- Brooks, Alice S;
- Campeau, Philippe M;
- Destree, Anne;
- Di Rocco, Maja;
- Donnai, Dian;
- Hennekam, Raoul;
- Heron, Delphine;
- Jacquemont, Sébastien;
- Kannu, Peter;
- Lin, Angela E;
- Manouvrier-Hanu, Sylvie;
- Mansour, Sahar;
- Marlin, Sandrine;
- McGowan, Ruth;
- Murphy, Helen;
- Raas-Rothschild, Annick
Publication type:
Article
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 71, doi. 10.1038/ejhg.2013.88
By:
- Nava, Caroline;
- Keren, Boris;
- Mignot, Cyril;
- Rastetter, Agnès;
- Chantot-Bastaraud, Sandra;
- Faudet, Anne;
- Fonteneau, Eric;
- Amiet, Claire;
- Laurent, Claudine;
- Jacquette, Aurélia;
- Whalen, Sandra;
- Afenjar, Alexandra;
- Périsse, Didier;
- Doummar, Diane;
- Dorison, Nathalie;
- Leboyer, Marion;
- Siffroi, Jean-Pierre;
- Cohen, David;
- Brice, Alexis;
- Héron, Delphine
Publication type:
Article
Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 5, p. 602, doi. 10.1038/ejhg.2010.225
By:
- Cognet, Marie;
- Nougayrede, Agnés;
- Malan, Valérie;
- Callier, Patrick;
- Cretolle, Celia;
- Faivre, Laurence;
- Genevieve, David;
- Goldenberg, Alice;
- Heron, Delphine;
- Mercier, Sandra;
- Philip, Nicole;
- Sigaudy8, Sabine;
- Verloes, Alain;
- Sarnacki, Sabine;
- Munnich, Arnold;
- Vekemans, Michel;
- Lyonnet, Stanislas;
- Etchevers, Heather;
- Amiel, Jeanne;
- de Pontual, Loïc
Publication type:
Article
Coffin–Lowry syndrome.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 6, p. 627, doi. 10.1038/ejhg.2009.189
By:
- Marques Pereira, Patricia;
- Schneider, Anne;
- Pannetier, Solange;
- Heron, Delphine;
- Hanauer, André
Publication type:
Article
Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1378, doi. 10.1038/ejhg.2009.82
By:
- Fichou, Yann;
- Bahi-Buisson, Nadia;
- Nectoux, Juliette;
- Chelly, Jamel;
- Héron, Delphine;
- Cuisset, Laurence;
- Bienvenu, Thierry
Publication type:
Article
Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation.
Published in:
European Journal of Human Genetics, 2005, v. 13, n. 5, p. 541, doi. 10.1038/sj.ejhg.5201339
By:
- Geneviève, David;
- Héron, Delphine;
- El Ghouzzi, Vincent;
- Prost-Squarcioni, Catherine;
- Le Merrer, Martine;
- Jacquette, Aurélia;
- Sanlaville, Damien;
- Pinton, Florence;
- Villeneuve, Nathalie;
- Kalifa, Gabriel;
- Munnich, Arnold;
- Cormier-Daire, Valérie
Publication type:
Article
A Male Fetus with Aqueductal Stenosis and Four Accessory Spleens.
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Pediatric Neurosurgery, 1996, v. 25, n. 1, p. 36, doi. 10.1159/000121094
By:
- Catala, Martin;
- Aubert, Valérie;
- Lesourd, Sylvie;
- Héron, Delphine;
- Vauthier-Brouzes, Danièle;
- Harpey, Jean-Paul
Publication type:
Article
Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.
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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
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
Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations.
Published in:
Clinical Case Reports, 2018, v. 6, n. 5, p. 827, doi. 10.1002/ccr3.1450
By:
- Coton, Julie;
- Labalme, Audrey;
- Till, Marianne;
- Bussy, Gerald;
- Krifi Papoz, Sonia;
- Lesca, Gaetan;
- Heron, Delphine;
- Sanlaville, Damien;
- Edery, Patrick;
- des Portes, Vincent;
- Rossi, Massimiliano
Publication type:
Article
Perinatal presentations of non‐immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis.
Published in:
Clinical Genetics, 2023, v. 103, n. 5, p. 560, doi. 10.1111/cge.14274
By:
- Ghesh, Leïla;
- Désir, Julie;
- Haye, Damien;
- Le Tanno, Pauline;
- Devillard, Françoise;
- Cogné, Benjamin;
- Marangoni, Martina;
- Tecco, Laura;
- Heron, Delphine;
- Le Vaillant, Claudine;
- Joubert, Madeleine;
- Beneteau, Claire
Publication type:
Article
Smith‐Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort.
Published in:
Clinical Genetics, 2021, v. 99, n. 4, p. 519, doi. 10.1111/cge.13906
By:
- Rive Le Gouard, Nicolas;
- Jacquinet, Adeline;
- Ruaud, Lyse;
- Deleersnyder, Hélène;
- Ageorges, Faustine;
- Gallard, Jennifer;
- Lacombe, Didier;
- Odent, Sylvie;
- Mikaty, Myriam;
- Manouvrier‐Hanu, Sylvie;
- Ghoumid, Jamal;
- Geneviève, David;
- Lehman, Natacha;
- Philip, Nicole;
- Edery, Patrick;
- Héron, Delphine;
- Rastel, Coralie;
- Chancenotte, Sophie;
- Thauvin‐Robinet, Christel;
- Faivre, Laurence
Publication type:
Article
Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 gene.
Published in:
Clinical Genetics, 2020, v. 97, n. 3, p. 477, doi. 10.1111/cge.13696
By:
- Desprairies, Camille;
- Valence, Stéphanie;
- Maurey, Hélène;
- Helal, Suzette I.;
- Weckhuysen, Sarah;
- Soliman, Hala;
- Mefford, Heather C.;
- Spentchian, Myrtille;
- Héron, Delphine;
- Leguern, Eric;
- Nava, Caroline;
- Bouilleret, Viviane;
- Moretti, Raffaella;
- Mignot, Cyril
Publication type:
Article

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