Works by Burglen, Lydie

Results: 52

DNA repair functional analyses of NBN hypomorphic variants associated with NBN‐related infertility.
Published in:
Human Mutation, 2020, v. 41, n. 3, p. 608, doi. 10.1002/humu.23955
By:
- Fiévet, Alice;
- Bellanger, Dorine;
- Zahed, Laila;
- Burglen, Lydie;
- Derrien, Anne‐Céline;
- Dubois d'Enghien, Catherine;
- Lespinasse, James;
- Parfait, Béatrice;
- Pedespan, Jean‐Michel;
- Rieunier, Guillaume;
- Stoppa‐Lyonnet, Dominique;
- Stern, Marc‐Henri
Publication type:
Article
Three new cases of ataxia‐telangiectasia‐like disorder: No impairment of the ATM pathway, but S‐phase checkpoint defect.
Published in:
Human Mutation, 2019, v. 40, n. 10, p. 1690, doi. 10.1002/humu.23773
By:
- Fiévet, Alice;
- Bellanger, Dorine;
- Valence, Stéphanie;
- Mobuchon, Lenha;
- Afenjar, Alexandra;
- Giuliano, Fabienne;
- Dubois d'Enghien, Catherine;
- Parfait, Béatrice;
- Pedespan, Jean‐Michel;
- Auger, Nathalie;
- Rieunier, Guillaume;
- Collet, Agnès;
- Burglen, Lydie;
- Stoppa‐Lyonnet, Dominique;
- Stern, Marc‐Henri
Publication type:
Article
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.
Published in:
Human Mutation, 2015, v. 36, n. 9, p. 894, doi. 10.1002/humu.22824
By:
- Brioude, Frederic;
- Netchine, Irène;
- Praz, Francoise;
- Jule, Marilyne;
- Calmel, Claire;
- Lacombe, Didier;
- Edery, Patrick;
- Catala, Martin;
- Odent, Sylvie;
- Isidor, Bertrand;
- Lyonnet, Stanislas;
- Sigaudy, Sabine;
- Leheup, Bruno;
- Audebert‐Bellanger, Séverine;
- Burglen, Lydie;
- Giuliano, Fabienne;
- Alessandri, Jean‐Luc;
- Cormier‐Daire, Valérie;
- Laffargue, Fanny;
- Blesson, Sophie
Publication type:
Article
A Homozygous PDE6 D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5 E Protein to the Primary Cilium.
Published in:
Human Mutation, 2014, v. 35, n. 1, p. 137, doi. 10.1002/humu.22470
By:
- Thomas, Sophie;
- Wright, Kevin J.;
- Corre, Stéphanie Le;
- Micalizzi, Alessia;
- Romani, Marta;
- Abhyankar, Avinash;
- Saada, Julien;
- Perrault, Isabelle;
- Amiel, Jeanne;
- Litzler, Julie;
- Filhol, Emilie;
- Elkhartoufi, Nadia;
- Kwong, Mandy;
- Casanova, Jean‐Laurent;
- Boddaert, Nathalie;
- Baehr, Wolfgang;
- Lyonnet, Stanislas;
- Munnich, Arnold;
- Burglen, Lydie;
- Chassaing, Nicolas
Publication type:
Article
Additional evidence for the vascular disruption defect hypothesis in a novel case of brainstem disconnection syndrome.
Published in:
Birth Defects Research, 2022, v. 114, n. 19, p. 1298, doi. 10.1002/bdr2.2100
By:
- Vekemans, Marie‐Aricie;
- Maurice, Paul;
- Lachtar, Mohamed;
- Blondiaux, Eléonore;
- Jouannic, Jean‐Marie;
- Burglen, Lydie;
- Rodriguez, Diana;
- Garel, Catherine;
- Valence, Stéphanie
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
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 445, doi. 10.1002/ajmg.a.63041
By:
- Jacquin, Clémence;
- Landais, Emilie;
- Poirsier, Céline;
- Afenjar, Alexandra;
- Akhavi, Ahmad;
- Bednarek, Nathalie;
- Bénech, Caroline;
- Bonnard, Adeline;
- Bosquet, Damien;
- Burglen, Lydie;
- Callier, Patrick;
- Chantot‐Bastaraud, Sandra;
- Coubes, Christine;
- Coutton, Charles;
- Delobel, Bruno;
- Descharmes, Margaux;
- Dupont, Jean‐Michel;
- Gatinois, Vincent;
- Gruchy, Nicolas;
- Guterman, Sarah
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
Growth charts in Kabuki syndrome 1.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 446, doi. 10.1002/ajmg.a.61462
By:
- Ruault, Valentin;
- Corsini, Carole;
- Duflos, Claire;
- Akouete, Sandrine;
- Georgescu, Véra;
- Abaji, Mario;
- Alembick, Yves;
- Alix, Eudeline;
- Amiel, Jeanne;
- Amouroux, Cyril;
- Barat‐Houari, Mouna;
- Baumann, Clarisse;
- Bonnard, Adeline;
- Boursier, Guilaine;
- Boute, Odile;
- Burglen, Lydie;
- Busa, Tiffany;
- Cordier, Marie‐Pierre;
- Cormier‐Daire, Valérie;
- Delrue, Marie‐Ange
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
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
Published in:
Human Genetics, 2017, v. 136, n. 4, p. 463, doi. 10.1007/s00439-017-1772-0
By:
- Depienne, Christel;
- Nava, Caroline;
- Keren, Boris;
- Heide, Solveig;
- Passemard, Sandrine;
- Moutard, Marie-Laure;
- Amor, David;
- Billette de Villemeur, Thierry;
- Doummar, Diane;
- Alby, Caroline;
- Cormier-Daire, Valérie;
- Saint-Martin, Anne;
- Hirsch, Edouard;
- Faivre, Laurence;
- Burglen, Lydie;
- Odent, Sylvie;
- Delrue, Marie-Ange;
- Caignec, Cédric;
- Isidor, Bertrand;
- Renaldo, Florence
Publication type:
Article
C5orf42 is the major gene responsible for OFD syndrome type VI.
Published in:
Human Genetics, 2014, v. 133, n. 3, p. 367, doi. 10.1007/s00439-013-1385-1
By:
- Lopez, Estelle;
- Thauvin-Robinet, Christel;
- Reversade, Bruno;
- Khartoufi, Nadia;
- Devisme, Louise;
- Holder, Muriel;
- Ansart-Franquet, Hélène;
- Avila, Magali;
- Lacombe, Didier;
- Kleinfinger, Pascale;
- Kaori, Irahara;
- Takanashi, Jun-Ichi;
- Merrer, Martine;
- Martinovic, Jelena;
- Noël, Catherine;
- Shboul, Mohammad;
- Ho, Lena;
- Güven, Yeliz;
- Razavi, Ferechté;
- Burglen, Lydie
Publication type:
Article
Pontocerebellar Hypoplasia Type 1D: A Case Report and Comprehensive Literature Review.
Published in:
2022
By:
- Dabaj, Ivana;
- Hassani, Adnan;
- Burglen, Lydie;
- Qebibo, Leila;
- Guerrot, Anne-Marie;
- Marret, Stéphane;
- Tebani, Abdellah;
- Bekri, Soumeya
Publication type:
Case Study
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum.
Published in:
Human Mutation, 2012, v. 33, n. 1, p. 64, doi. 10.1002/humu.21639
By:
- Whalen, Sandra;
- Héron, Delphine;
- Gaillon, Thierry;
- Moldovan, Oana;
- Rossi, Massimiliano;
- Devillard, Françoise;
- Giuliano, Fabienne;
- Soares, Gabriela;
- Mathieu-Dramard, Michelle;
- Afenjar, Alexandra;
- Charles, Perrine;
- Mignot, Cyril;
- Burglen, Lydie;
- Van Maldergem, Lionel;
- Piard, Juliette;
- Aftimos, Salim;
- Mancini, Grazia;
- Dias, Patricia;
- Philip, Nicole;
- Goldenberg, Alice
Publication type:
Article
Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy.
Published in:
Human Mutation, 2001, v. 18, n. 3, p. 251, doi. 10.1002/humu.1182
By:
- Bienvenu, Thierry;
- Souville, Isabelle;
- Poirier, Karine;
- Aquaviva, Cécile;
- Burglen, Lydie;
- Amiel, Jeanne;
- Héron, Bénédicte;
- Kaminska, Anna;
- Couvert, Philippe;
- Beldjord, Cherif;
- Chelly, Jamel
Publication type:
Article
Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders.
Published in:
eLife, 2023, p. 1, doi. 10.7554/eLife.81032
By:
- Burglen, Lydie;
- Van Hoeymissen, Evelien;
- Qebibo, Leila;
- Barth, Magalie;
- Belnap, Newell;
- Boschann, Felix;
- Depienne, Christel;
- De Clercq, Katrien;
- Douglas, Andrew G. L.;
- Fitzgerald, Mark P.;
- Foulds, Nicola;
- Garel, Catherine;
- Helbig, Ingo;
- Held, Katharina;
- Horn, Denise;
- Janssen, Annelies;
- Kaindl, Angela M.;
- Narayanan, Vinodh;
- Prager, Christina;
- Rupin-Mas, Mailys
Publication type:
Article
Une hypoplasie ponto-cérébelleuse causée par l'accumulation d'un inositol phosphate.
Published in:
Médecine Sciences, 2021, v. 37, n. 6/7, p. 572, doi. 10.1051/medsci/2021067
By:
- Ucuncu, Ekin;
- Rajamani, Karthyayani;
- Burglen, Lydie;
- Boddaert, Nathalie;
- Saiardi, Adolfo;
- Cantagrel, Vincent
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
Craniofacial Phenotype in the Branchio-Oculo-Facial Syndrome: Four Case Reports.
Published in:
Cleft Palate Craniofacial Journal, 2012, v. 49, n. 3, p. 357, doi. 10.1597/10-203
By:
- Galliani, Eva;
- Burglen, Lydie;
- Kadlub, Natacha;
- Just, Walter;
- Sznajer, Yves;
- de Villemeur, Thierry Billette;
- Soupre, Véronique;
- Picard, Arnaud;
- Vazquez, Marie-Paule
Publication type:
Article
Characterization of novel CACNA1A splice variants by RNA‐sequencing in patients with episodic or congenital ataxia.
Published in:
Clinical Genetics, 2023, v. 104, n. 3, p. 365, doi. 10.1111/cge.14358
By:
- Riant, Florence;
- Burglen, Lydie;
- Corpechot, Michaelle;
- Robert, Julien;
- Durr, Alexandra;
- Solé, Guilhem;
- Petit, Florence;
- Freihuber, Cécile;
- De Marco, Olivier;
- Sarret, Catherine;
- Castelnovo, Giovanni;
- Devillard, Françoise;
- Afenjar, Alexandra;
- Héron, Bénédicte;
- Lasserve, Elisabeth Tournier
Publication type:
Article
Early‐onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling.
Published in:
Clinical Genetics, 2020, v. 98, n. 3, p. 251, doi. 10.1111/cge.13798
By:
- Baer, Sarah;
- Obringer, Cathy;
- Julia, Sophie;
- Chelly, Jameleddine;
- Capri, Yline;
- Gras, Domitille;
- Baujat, Geneviève;
- Felix, Têmis Maria;
- Doray, Berenice;
- Sanchez del Pozo, Jaime;
- Ramos, Lina M.;
- Burglen, Lydie;
- Laugel, Vincent;
- Calmels, Nadège
Publication type:
Article
Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.
Published in:
Brain: A Journal of Neurology, 2024, v. 147, n. 12, p. 4033, doi. 10.1093/brain/awae299
By:
- Werren, Elizabeth A;
- Bey, Guillermo Rodriguez;
- Majethia, Purvi;
- Kaur, Parneet;
- Patil, Siddaramappa J;
- Kekatpure, Minal V;
- Afenjar, Alexandra;
- Qebibo, Leila;
- Burglen, Lydie;
- Tomoum, Hoda;
- Demurger, Florence;
- Duborg, Christele;
- Siddiqui, Shahyan;
- Tsan, Yao-Chang;
- Abdullah, Uzma;
- Ali, Zafar;
- Saadi, Saadia Maryam;
- Baig, Shahid Mahmood;
- Houlden, Henry;
- Maroofian, Reza
Publication type:
Article
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.
Published in:
2022
By:
- Bainbridge, Matthew N;
- Mazumder, Aloran;
- Ogasawara, Daisuke;
- Jamra, Rami Abou;
- Bernard, Geneviève;
- Bertini, Enrico;
- Burglen, Lydie;
- Cope, Heidi;
- Crawford, Ali;
- Derksen, Alexa;
- Dure, Leon;
- Gantz, Emily;
- Koch-Hogrebe, Margarete;
- Hurst, Anna C E;
- Mahida, Sonal;
- Marshall, Paige;
- Micalizzi, Alessia;
- Novelli, Antonio;
- Peng, Hongfan;
- Medicine, Rady Children's Institute for Genomic
Publication type:
journal article
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Published in:
2017
By:
- Syrbe, Steffen;
- Harms, Frederike L.;
- Parrini, Elena;
- Montomoli, Martino;
- Mütze, Ulrike;
- Helbig, Katherine L.;
- Polster, Tilman;
- Albrecht, Beate;
- Bernbeck, Ulrich;
- van Binsbergen, Ellen;
- Biskup, Saskia;
- Burglen, Lydie;
- Denecke, Jonas;
- Heron, Bénédicte;
- Heyne, Henrike O.;
- Hoffmann, Georg F.;
- Hornemann, Frauke;
- Takeshi Matsushige;
- Ryuki Matsuura;
- Mitsuhiro Kato
Publication type:
journal article
SHH medulloblastoma in a young adult with a TCF4 germline pathogenic variation.
Published in:
2019
By:
- Blanluet, Maud;
- Bourneix, Christine;
- Masliah-Planchon, Julien;
- Pierron, Gaëlle;
- Delattre, Olivier;
- Rapinat, Audrey;
- Gentien, David;
- Oumoussa, Badreddine Mohand;
- Ayrault, Olivier;
- Pouponnot, Celio;
- Andrianteranagna, Mamy;
- Bourdeaut, Franck;
- Doz, François;
- Giurgea, Irina;
- Bielle, Franck;
- Girard, Elodie;
- Clemenceau, Stéphane;
- Burglen, Lydie;
- Doummar, Diane
Publication type:
Case Study
The role of the SMN gene in proximal spinal muscular atrophy.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 10, p. 1531, doi. 10.1093/hmg/7.10.1531
By:
- Lefebvre, Suzie;
- Bürglen, Lydie;
- Frézal, Jean;
- Munnich, Arnold;
- Melki, Judith
Publication type:
Article
The role of the SMN gene in proximal spinal muscular atrophy.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 10, p. 1531, doi. 10.1093/hmg/7.10.1531
By:
- Lefebvre, Suzie;
- Bürglen, Lydie;
- Frézal, Jean;
- Munnich, Arnold;
- Melki, Judith
Publication type:
Article
Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Published in:
2023
By:
- Ayers, Katie L.;
- Eggers, Stefanie;
- Rollo, Ben N.;
- Smith, Katherine R.;
- Davidson, Nadia M.;
- Siddall, Nicole A.;
- Zhao, Liang;
- Bowles, Josephine;
- Weiss, Karin;
- Zanni, Ginevra;
- Burglen, Lydie;
- Ben-Shachar, Shay;
- Rosensaft, Jenny;
- Raas-Rothschild, Annick;
- Jørgensen, Anne;
- Schittenhelm, Ralf B.;
- Huang, Cheng;
- Robevska, Gorjana;
- van den Bergen, Jocelyn;
- Casagranda, Franca
Publication type:
Correction Notice
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Published in:
Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-39040-0
By:
- Ayers, Katie L.;
- Eggers, Stefanie;
- Rollo, Ben N.;
- Smith, Katherine R.;
- Davidson, Nadia M.;
- Siddall, Nicole A.;
- Zhao, Liang;
- Bowles, Josephine;
- Weiss, Karin;
- Zanni, Ginevra;
- Burglen, Lydie;
- Ben-Shachar, Shay;
- Rosensaft, Jenny;
- Raas-Rothschild, Annick;
- Jørgensen, Anne;
- Schittenhelm, Ralf B.;
- Huang, Cheng;
- Robevska, Gorjana;
- van den Bergen, Jocelyn;
- Casagranda, Franca
Publication type:
Article
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Published in:
Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-39040-0
By:
- Ayers, Katie L.;
- Eggers, Stefanie;
- Rollo, Ben N.;
- Smith, Katherine R.;
- Davidson, Nadia M.;
- Siddall, Nicole A.;
- Zhao, Liang;
- Bowles, Josephine;
- Weiss, Karin;
- Zanni, Ginevra;
- Burglen, Lydie;
- Ben-Shachar, Shay;
- Rosensaft, Jenny;
- Raas-Rothschild, Annick;
- Jørgensen, Anne;
- Schittenhelm, Ralf B.;
- Huang, Cheng;
- Robevska, Gorjana;
- van den Bergen, Jocelyn;
- Casagranda, Franca
Publication type:
Article
Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow‐up.
Published in:
Prenatal Diagnosis, 2024, v. 44, n. 1, p. 35, doi. 10.1002/pd.6495
By:
- Jaillard, Alienor;
- Valence, Stéphanie;
- Vande Perre, Saskia;
- Dhombres, Ferdinand;
- Héron, Delphine;
- Billette de Villemeur, Thierry;
- Keren, Boris;
- Afenjar, Alexandra;
- Qebibo, Leila;
- Harion, Madeleine;
- Quenum‐Miraillet, Geneviève;
- Rodriguez, Diana;
- Jouannic, Jean‐Marie;
- Burglen, Lydie;
- Garel, Catherine
Publication type:
Article
Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith–Wiedemann syndrome.
Published in:
European Journal of Human Genetics, 2001, v. 9, n. 6, p. 409, doi. 10.1038/sj.ejhg.5200649
By:
- Gaston, Véronique;
- Le Bouc, Yves;
- Soupre, Véronique;
- Burglen, Lydie;
- Donadieu, Jeam;
- Oro, Hubert;
- Audry, Georges;
- Vazquez, Marie-Paule;
- Gicquel, Christine
Publication type:
Article
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-173
By:
- Mignot, Cyril;
- Apartis, Emmanuelle;
- Durr, Alexandra;
- Lourenço, Charles Marques;
- Charles, Perrine;
- Devos, David;
- Moreau, Caroline;
- Lonlay, Pascale de;
- Drouot, Nathalie;
- Burglen, Lydie;
- Kempf, Nadine;
- Nourisson, Elsa;
- Chantot-Bastaraud, Sandra;
- Lebre, Anne-Sophie;
- Rio, Marlène;
- Chaix, Yves;
- Bieth, Eric;
- Roze, Emmanuel;
- Bonnet, Isabelle;
- Canaple, Sandrine
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
Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome.
Published in:
2005
By:
- Gicquel, Christine;
- Rossignol, Sylvie;
- Cabrol, Sylvie;
- Houang, Muriel;
- Steunou, Virginie;
- Barbu, Véronique;
- Danton, Fabienne;
- Thibaud, Nathalie;
- Merrer, Martine Le;
- Burglen, Lydie;
- Bertrand, Anne-Marie;
- Netchine, Irène;
- Bouc, Yves Le
Publication type:
Letter
CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes.
Published in:
Journal of Neurology, 2024, v. 271, n. 5, p. 2859, doi. 10.1007/s00415-024-12271-x
By:
- Sorrentino, Ugo;
- Boesch, Sylvia;
- Doummar, Diane;
- Ravelli, Claudia;
- Serranova, Tereza;
- Indelicato, Elisabetta;
- Winkelmann, Juliane;
- Burglen, Lydie;
- Jech, Robert;
- Zech, Michael
Publication type:
Article
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.
Published in:
Journal of Neurology, 2016, v. 263, n. 7, p. 1314, doi. 10.1007/s00415-016-8112-5
By:
- Mallaret, Martial;
- Renaud, Mathilde;
- Redin, Claire;
- Drouot, Nathalie;
- Muller, Jean;
- Severac, Francois;
- Mandel, Jean;
- Hamza, Wahiba;
- Benhassine, Traki;
- Ali-Pacha, Lamia;
- Tazir, Meriem;
- Durr, Alexandra;
- Monin, Marie-Lorraine;
- Mignot, Cyril;
- Charles, Perrine;
- Maldergem, Lionel;
- Chamard, Ludivine;
- Thauvin-Robinet, Christel;
- Laugel, Vincent;
- Burglen, Lydie
Publication type:
Article
Prenatal Imaging Findings of Pontine Tegmental Cap Dysplasia: Report of Four Cases.
Published in:
2019
By:
- Blondiaux, Eléonore;
- Valence, Stéphanie;
- Friszer, Stéphanie;
- Rodriguez, Diana;
- Burglen, Lydie;
- Ducou le Pointe, Hubert;
- Blouet, Marie;
- Garel, Catherine
Publication type:
Case Study
OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 3, p. 497, doi. 10.1093/hmg/ddv488
By:
- Chevrier, Véronique;
- Bruel, Ange-Line;
- Van Dam, Teunis J. P.;
- Franco, Brunella;
- Lo Scalzo, Melissa;
- Lembo, Frédérique;
- Audebert, Stéphane;
- Baudelet, Emilie;
- Isnardon, Daniel;
- Bole, Angélique;
- Borg, Jean-Paul;
- Kuentz, Paul;
- Thevenon, Julien;
- Burglen, Lydie;
- Faivre, Laurence;
- Rivière, Jean-Baptiste;
- Huynen, Martijn A.;
- Birnbaum, Daniel;
- Rosnet, Olivier;
- Thauvin-Robinet, Christel
Publication type:
Article
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Published in:
Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-10910-w
By:
- Salpietro, Vincenzo;
- Dixon, Christine L.;
- Guo, Hui;
- Bello, Oscar D.;
- Vandrovcova, Jana;
- Efthymiou, Stephanie;
- Maroofian, Reza;
- Heimer, Gali;
- Burglen, Lydie;
- Valence, Stephanie;
- Torti, Erin;
- Hacke, Moritz;
- Rankin, Julia;
- Tariq, Huma;
- Colin, Estelle;
- Procaccio, Vincent;
- Striano, Pasquale;
- Mankad, Kshitij;
- Lieb, Andreas;
- Chen, Sharon
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
Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2013, v. 163C, n. 2, p. 92, doi. 10.1002/ajmg.c.31360
By:
- COTTEREAU, EDOUARD;
- MORTEMOUSQUE, ISABELLE;
- MOIZARD, MARIE‐PIERRE;
- BÜRGLEN, LYDIE;
- LACOMBE, DIDIER;
- GILBERT‐DUSSARDIER, BRIGITTE;
- SIGAUDY, SABINE;
- BOUTE, ODILE;
- DAVID, ALBERT;
- FAIVRE, LAURENCE;
- AMIEL, JEANNE;
- ROBERTSON, ROBERT;
- RAMOS, FABIANA VIANA;
- BIETH, ERIC;
- ODENT, SYLVIE;
- DEMEER, BÉNÉDICTE;
- MATHIEU, MICHÉLE;
- GAILLARD, DOMINIQUE;
- VAN MALDERGEM, LIONEL;
- BAUJAT, GENEVIÉVE
Publication type:
Article
Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late‐Onset Phenotypes.
Published in:
Movement Disorders, 2023, v. 38, n. 11, p. 2103, doi. 10.1002/mds.29576
By:
- Angelini, Chloé;
- Durand, Christelle Marie;
- Fergelot, Patricia;
- Deforges, Julie;
- Vital, Anne;
- Menegon, Patrice;
- Sarrazin, Elizabeth;
- Bellance, Rémi;
- Mathis, Stéphane;
- Gonzalez, Victoria;
- Renaud, Mathilde;
- Frismand, Solène;
- Schmitt, Emmanuelle;
- Rouanet, Marie;
- Burglen, Lydie;
- Chabrol, Brigitte;
- Desnous, Béatrice;
- Arveiler, Benoît;
- Stevanin, Giovanni;
- Coupry, Isabelle
Publication type:
Article
Highlighting the Dystonic Phenotype Related to GNAO1.
Published in:
Movement Disorders, 2022, v. 37, n. 7, p. 1547, doi. 10.1002/mds.29074
By:
- Wirth, Thomas;
- Garone, Giacomo;
- Kurian, Manju A.;
- Piton, Amélie;
- Millan, Francisca;
- Telegrafi, Aida;
- Drouot, Nathalie;
- Rudolf, Gabrielle;
- Chelly, Jamel;
- Marks, Warren;
- Burglen, Lydie;
- Demailly, Diane;
- Coubes, Phillipe;
- Castro‐Jimenez, Mayte;
- Joriot, Sylvie;
- Ghoumid, Jamal;
- Belin, Jérémie;
- Faucheux, Jean‐Marc;
- Blumkin, Lubov;
- Hull, Mariam
Publication type:
Article
A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement.
Published in:
2015
By:
- Doummar, Diane;
- Mignot, Cyril;
- Apartis, Emmanuelle;
- Villard, Laurent;
- Rodriguez, Diana;
- Chantot-Bastauraud, Sandra;
- Burglen, Lydie
Publication type:
Case Study
A Novel Homozygous TBC 1 D 24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement.
Published in:
Movement Disorders, 2015, v. 30, n. 10, p. 1431, doi. 10.1002/mds.26303
By:
- Doummar, Diane;
- Mignot, Cyril;
- Apartis, Emmanuelle;
- Villard, Laurent;
- Rodriguez, Diana;
- Chantot‐Bastauraud, Sandra;
- Burglen, Lydie
Publication type:
Article
VPS4A mutation in syndromic congenital hemolytic anemia without obvious signs of dyserythropoiesis.
Published in:
American Journal of Hematology, 2021, v. 96, n. 4, p. E121, doi. 10.1002/ajh.26099
By:
- Lunati, Ariane;
- Petit, Arnaud;
- Lapillonne, Hélène;
- Gameiro, Christine;
- Saillour, Virginie;
- Garel, Catherine;
- Doummar, Diane;
- Qebibo, Leila;
- Aissat, Abdelrazak;
- Fanen, Pascale;
- Bartolucci, Pablo;
- Galactéros, Fréderic;
- Funalot, Benoit;
- Burglen, Lydie;
- Mansour‐Hendili, Lamisse
Publication type:
Article
Childhood‐onset progressive dystonia associated with pathogenic truncating variants in CHD8.
Published in:
2021
By:
- Doummar, Diane;
- Treven, Marco;
- Qebibo, Leila;
- Devos, David;
- Ghoumid, Jamal;
- Ravelli, Claudia;
- Kranz, Gottfried;
- Krenn, Martin;
- Demailly, Diane;
- Cif, Laura;
- Davion, Jean‐Baptiste;
- Zimprich, Fritz;
- Burglen, Lydie;
- Zech, Michael
Publication type:
Case Study
Phenotype and Genotype in 52 Patients with Rubinstein-Taybi Syndrome Caused by EP300 Mutations.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3069, doi. 10.1002/ajmg.a.37940
By:
- Fergelot, Patricia;
- Van Belzen, Martine;
- Van Gils, Julien;
- Afenjar, Alexandra;
- Armour, Christine M.;
- Arveiler, Benoit;
- Beets, Lex;
- Burglen, Lydie;
- Busa, Tiffany;
- Collet, Marie;
- Deforges, Julie;
- de Vries, Bert B. A.;
- Dominguez Garrido, Elena;
- Dorison, Nathalie;
- Dupont, Juliette;
- Francannet, Christine;
- Garciá‐Minaúr, Sixto;
- Gabau Vila, Elisabeth;
- Gebre‐Medhin, Samuel;
- Gener Querol, Blanca
Publication type:
Article
Megalencephalic Leukoencephalopathy With Subcortical Cysts in a Tunisian Boy.
Published in:
Journal of Child Neurology, 2009, v. 24, n. 1, p. 87, doi. 10.1177/0883073808324021
By:
- Tinsa, Faten;
- Farid, Olfa;
- Douira, Wiem;
- Rodriguez, Diana;
- Burglen, Lydie;
- Boussetta, Khadija;
- Bousnina, Souad
Publication type:
Article