Works matching AU El Chehadeh, Salima

Results: 22

SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice.

Published in:

Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31566-z

By:

El Chehadeh, Salima;
Han, Kyung Ah;
Kim, Dongwook;
Jang, Gyubin;
Bakhtiari, Somayeh;
Lim, Dongseok;
Kim, Hee Young;
Kim, Jinhu;
Kim, Hyeonho;
Wynn, Julia;
Chung, Wendy K.;
Vitiello, Giuseppina;
Cutcutache, Ioana;
Page, Matthew;
Gecz, Jozef;
Harper, Kelly;
Han, Ah-reum;
Kim, Ho Min;
Wessels, Marja;
Bayat, Allan

Publication type:

Article

An Improved Method to Extract DNA from 1 ml of Uncultured Amniotic Fluid from Patients at Less than 16 Weeks’ Gestation.

Published in:

PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0059956

By:

Mosca-Boidron, Anne-Laure;
Faivre, Laurence;
Aho, Serge;
Marle, Nathalie;
Truntzer, Caroline;
Rousseau, Thierry;
Ragon, Clémence;
Payet, Muriel;
Thauvin-Robinet, Christelle;
Thevenon, Julien;
Chehadeh, Salima El;
Huet, Fréderic;
Sagot, Paul;
Mugneret, Francine;
Callier, Patrick

Publication type:

Article

Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 23, p. 6603, doi. 10.1093/hmg/ddv366

By:

Limoge, Floriane;
Faivre, Laurence;
Gautier, Thomas;
Petit, Jean-Michel;
Gautier, Elodie;
Masson, David;
Jego, Gaëtan;
El Chehadeh-Djebbar, Salima;
Marle, Nathalie;
Carmignac, Virginie;
Deckert, Valérie;
Brindisi, Marie-Claude;
Edery, Patrick;
Ghoumid, Jamal;
Blair, Edward;
Lagrost, Laurent;
Thauvin-Robinet, Christel;
Duplomb, Laurence

Publication type:

Article

Cohen syndrome is associated with major glycosylation defects.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 9, p. 2391, doi. 10.1093/hmg/ddt630

By:

Duplomb, Laurence;
Duvet, Sandrine;
Picot, Damien;
Jego, Gaëtan;
El Chehadeh-Djebbar, Salima;
Marle, Nathalie;
Gigot, Nadège;
Aral, Bernard;
Carmignac, Virginie;
Thevenon, Julien;
Lopez, Estelle;
Rivière, Jean-Baptiste;
Klein, André;
Philippe, Christophe;
Droin, Nathalie;
Blair, Edward;
Girodon, François;
Donadieu, Jean;
Bellanné-Chantelot, Christine;
Delva, Laurent

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

Periodontal (formerly type VIII) Ehlers–Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype.

Published in:

Clinical Genetics, 2021, v. 100, n. 2, p. 206, doi. 10.1111/cge.13972

By:

El Chehadeh, Salima;
Legrand, Anne;
Stoetzel, Corinne;
Geoffroy, Véronique;
Billon, Clarisse;
Adham, Salma;
Jeunemaître, Xavier;
Jaussaud, Roland;
Muller, Jean;
Schaefer, Elise;
Benistan, Karelle;
Gaertner, Sébastien;
Bloch‐Zupan, Agnès;
Courval, Aymeric;
Manière, Marie‐Cécile;
Petit, Catherine;
Bursztejn, Anne‐Claire;
Bal, Laurence;
Reyre, Anthony;
Chammas, Agathe

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

Prenatal diagnosis of cerebro‐oculo‐facio‐skeletal syndrome: Report of three fetuses and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1236, doi. 10.1002/ajmg.a.61520

By:

Le Van Quyen, Pauline;
Calmels, Nadège;
Bonnière, Maryse;
Chartier, Suzanne;
Razavi, Féréchté;
Chelly, Jamel;
El Chehadeh, Salima;
Baer, Sarah;
Boutaud, Lucile;
Bacrot, Séverine;
Obringer, Cathy;
Favre, Romain;
Attié‐Bitach, Tania;
Laugel, Vincent;
Antal, Maria C.

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

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 116, doi. 10.1002/ajmg.a.37384

By:

El Chehadeh, Salima;
Faivre, Laurence;
Mosca‐Boidron, Anne‐Laure;
Malan, Valérie;
Amiel, Jeanne;
Nizon, Mathilde;
Touraine, Renaud;
Prieur, Fabienne;
Pasquier, Laurent;
Callier, Patrick;
Lefebvre, Mathilde;
Marle, Nathalie;
Dubourg, Christèle;
Julia, Sophie;
Sarret, Catherine;
Francannet, Christine;
Laffargue, Fanny;
Boespflug‐Tanguy, Odile;
David, Albert;
Isidor, Bertrand

Publication type:

Article

Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: A differential diagnosis of ceroid lipofuscinosis.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1537, doi. 10.1002/ajmg.a.36471

By:

Masurel‐Paulet, Alice;
Drumare, Isabelle;
Holder, Muriel;
Cuisset, Jean‐Marie;
Vallée, Louis;
Defoort, Sabine;
Bourgois, Béatrice;
Pernes, Philippe;
Cuvellier, Jean‐Christophe;
Huet, Frédéric;
Chehadeh, Salima El;
Thevenon, Julien;
Callier, Patrick;
Thauvin, Christel;
Faivre, Laurence;
Andrieux, Joris

Publication type:

Article

Expanding the clinical phenotype of patients with a ZDHHC9 mutation.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 789, doi. 10.1002/ajmg.a.36348

By:

Masurel‐Paulet, Alice;
Kalscheuer, Vera M.;
Lebrun, Nicolas;
Hu, Hao;
Levy, Fabienne;
Thauvin‐Robinet, Christel;
Darmency‐Stamboul, Véronique;
El Chehadeh, Salima;
Thevenon, Julien;
Chancenotte, Sophie;
Ruffier‐Bourdet, Marie;
Bonnet, Marlène;
Pinoit, Jean‐Michel;
Huet, Frédéric;
Desportes, Vincent;
Chelly, Jamel;
Faivre, Laurence

Publication type:

Article

Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS 13 B mutations.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 522, doi. 10.1002/ajmg.a.36300

By:

Gueneau, Lucie;
Duplomb, Laurence;
Sarda, Pierre;
Hamel, Christian;
Aral, Bernard;
Chehadeh, Salima El;
Gigot, Nadège;
St‐Onge, Judith;
Callier, Patrick;
Thevenon, Julien;
Huet, Frédéric;
Carmignac, Virginie;
Droin, Nathalie;
Faivre, Laurence;
Thauvin‐Robinet, Christel

Publication type:

Article

Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 8, p. 979, doi. 10.1038/ejhg.2013.278

By:

Degrolard-Courcet, Emilie;
Sokolowska, Joanna;
Padeano, Marie-Martine;
Guiu, Séverine;
Bronner, Myriam;
Chery, Carole;
Coron, Fanny;
Lepage, Côme;
Chapusot, Caroline;
Loustalot, Catherine;
Jouve, Jean-Louis;
Hatem, Cyril;
Ferrant, Emmanuelle;
Martin, Laurent;
Coutant, Charles;
Baurand, Amandine;
Couillault, Gérard;
Delignette, Alexandra;
El Chehadeh, Salima;
Lizard, Sarab

Publication type:

Article

Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 7, p. 736, doi. 10.1038/ejhg.2012.251

By:

El Chehadeh-Djebbar, Salima;
Blair, Edward;
Holder-Espinasse, Muriel;
Moncla, Anne;
Frances, Anne-Marie;
Rio, Marlène;
Debray, François-Guillaume;
Rump, Patrick;
Masurel-Paulet, Alice;
Gigot, Nadège;
Callier, Patrick;
Duplomb, Laurence;
Aral, Bernard;
Huet, Frédéric;
Thauvin-Robinet, Christel;
Faivre, Laurence

Publication type:

Article

6q16.3q23.3 duplication associated with Prader-Willi-like syndrome.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0151-6

By:

Desch, Laurent;
Marle, Nathalie;
Mosca-Boidron, Anne-Laure;
Faivre, Laurence;
Eliade, Marie;
Payet, Muriel;
Ragon, Clemence;
Thevenon, Julien;
Aral, Bernard;
Ragot, Sylviane;
Ardalan, Azarnouche;
Dhouibi, Nabila;
Bensignor, Candace;
Thauvin-Robinet, Christel;
Chehadeh, Salima El;
Callier, Patrick

Publication type:

Article

Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2.

Published in:

Journal of Clinical Immunology, 2023, v. 43, n. 4, p. 808, doi. 10.1007/s10875-023-01445-3

By:

Zhu, Gaofeng;
Badonyi, Mihaly;
Franklin, Lina;
Seabra, Luis;
Rice, Gillian I.;
Anne-Boland-Auge;
Deleuze, Jean-François;
El-Chehadeh, Salima;
Anheim, Mathieu;
de Saint-Martin, Anne;
Pellegrini, Sandra;
Marsh, Joseph A.;
Crow, Yanick J.;
El-Daher, Marie-Therese

Publication type:

Article

IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB–Induced Inflammation.

Published in:

Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 421, doi. 10.1007/s10875-022-01390-7

By:

Gottschalk, Ilona;
Kölsch, Uwe;
Wagner, Dimitrios L.;
Kath, Jonas;
Martini, Stefania;
Krüger, Renate;
Puel, Anne;
Casanova, Jean-Laurent;
Jezela-Stanek, Aleksandra;
Rossi, Rainer;
Chehadeh, Salima El;
Van Esch, Hilde;
von Bernuth, Horst

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

Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and Focus on the PLS3 Gene.

Published in:

Calcified Tissue International, 2024, v. 115, n. 5, p. 591, doi. 10.1007/s00223-024-01288-z

By:

Mancini, Maxence;
Chapurlat, Roland;
Isidor, Bertrand;
Desjonqueres, Marine;
Couture, Guillaume;
Guggenbuhl, Pascal;
Coutant, Régis;
El Chehadeh, Salima;
Fradin, Mélanie;
Frazier, Aline;
Goldenberg, Alice;
Guillot, Pascaline;
Koumakis, Eugénie;
Mehsen-Cêtre, Nadia;
Rossi, Massimiliano;
Schaefer, Élise;
Sigaudy, Sabine;
Porquet-Bordes, Valérie;
Fontanges, Élisabeth;
Letard, Pauline

Publication type:

Article

Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia.

Published in:

Journal of Molecular Medicine, 2019, v. 97, n. 5, p. 633, doi. 10.1007/s00109-019-01754-4

By:

Duplomb, Laurence;
Rivière, Julie;
Jego, Gaëtan;
Da Costa, Romain;
Hammann, Arlette;
Racine, Jessica;
Schmitt, Alain;
Droin, Nathalie;
Capron, Claude;
Gougerot-Pocidalo, Marie-Anne;
Dubrez, Laurence;
Aral, Bernard;
Lafon, Arnaud;
Edery, Patrick;
Ghoumid, Jamal;
Blair, Edward;
El Chehadeh-Djebbar, Salima;
Carmignac, Virginie;
Thevenon, Julien;
Guy, Julien

Publication type:

Article

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.

Published in:

Human Genetics, 2022, v. 141, n. 1, p. 65, doi. 10.1007/s00439-021-02383-z

By:

Coursimault, Juliette;
Guerrot, Anne-Marie;
Morrow, Michelle M.;
Schramm, Catherine;
Zamora, Francisca Millan;
Shanmugham, Anita;
Liu, Shuxi;
Zou, Fanggeng;
Bilan, Frédéric;
Le Guyader, Gwenaël;
Bruel, Ange-Line;
Denommé-Pichon, Anne-Sophie;
Faivre, Laurence;
Tran Mau-Them, Frédéric;
Tessarech, Marine;
Colin, Estelle;
El Chehadeh, Salima;
Gérard, Bénédicte;
Schaefer, Elise;
Cogne, Benjamin

Publication type:

Article