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Contribution of fetal MRI to the diagnosis of inner ear abnormalities: report of two cases.
Published in:
2006
By:
- Tilea, Bogdana;
- Garel, Catherine;
- Menez, Françoise;
- Vuillard, Edith;
- Elmaleh-Bergès, Monique;
- Delezoide, Anne-Lise;
- Sebag, Guy;
- Menez, Françoise;
- Elmaleh-Bergès, Monique
Publication type:
journal article
SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.
Published in:
2019
By:
- Dewulf, Joseph P.;
- Wiame, Elsa;
- Dorboz, Imen;
- Elmaleh‐Bergès, Monique;
- Imbard, Apolline;
- Dumitriu, Dana;
- Rak, Malgorzata;
- Bourillon, Agnès;
- Helaers, Raphaël;
- Malla, Alisha;
- Renaldo, Florence;
- Boespflug‐Tanguy, Odile;
- Vincent, Marie‐Françoise;
- Benoist, Jean‐François;
- Wevers, Ron A.;
- Schlessinger, Avner;
- Van Schaftingen, Emile;
- Nassogne, Marie‐Cécile;
- Schiff, Manuel;
- Elmaleh-Bergès, Monique
Publication type:
journal article
Paediatric-onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis.
Published in:
2020
By:
- Dozières‐Puyravel, Blandine;
- Nasser, Hala;
- Elmaleh‐Bergès, Monique;
- Lopez Hernandez, Elisa;
- Gelot, Antoinette;
- Ilea, Adina;
- Delanoë, Catherine;
- Puech, Jean‐Philippe;
- Caillaud, Catherine;
- Pichard, Samia;
- Auvin, Stéphane;
- Dozières-Puyravel, Blandine;
- Elmaleh-Bergès, Monique;
- Puech, Jean-Philippe
Publication type:
journal article
Detection of postoperative residual cholesteatoma with delayed contrast-enhanced MR imaging: initial findings.
Published in:
2003
By:
- Williams, Marc T.;
- Ayache, Denis;
- Alberti, Corinne;
- Héran, Françoise;
- Lafitte, François;
- Elmaleh-Bergès, Monique;
- Piekarski, Jean-Daniel;
- Héran, Françoise;
- Lafitte, François;
- Elmaleh-Bergès, Monique
Publication type:
journal article
Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 174, doi. 10.1186/s13023-014-0174-9
By:
- Dorboz, Imen;
- Coutelier, Marie;
- Bertrand, Anne T;
- Caberg, Jean-Hubert;
- Elmaleh-Bergès, Monique;
- Lainé, Jeanne;
- Stevanin, Giovanni;
- Bonne, Gisèle;
- Boespflug-Tanguy, Odile;
- Servais, Laurent
Publication type:
Article
Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1.
Published in:
2014
By:
- Dorboz, Imen;
- Coutelier, Marie;
- Bertrand, Anne T;
- Caberg, Jean-Hubert;
- Elmaleh-Bergès, Monique;
- Lainé, Jeanne;
- Stevanin, Giovanni;
- Bonne, Gisèle;
- Boespflug-Tanguy, Odile;
- Servais, Laurent
Publication type:
journal article
QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease.
Published in:
eLife, 2016, p. 1, doi. 10.7554/eLife.17163
By:
- Guarani, Virginia;
- Jardel, Claude;
- Chrétien, Dominique;
- Lombès, Anne;
- Bénit, Paule;
- Labasse, Clémence;
- Lacène, Emmanuelle;
- Bourillon, Agnès;
- Imbard, Apolline;
- Benoist, Jean-François;
- Dorboz, Imen;
- Gilleron, Mylène;
- Goetzman, Eric S.;
- Gaignard, Pauline;
- Slama, Abdelhamid;
- Elmaleh-Bergès, Monique;
- Romero, Norma B.;
- Rustin, Pierre;
- de Baulny, Hélène Ogier;
- Paulo, Joao A.
Publication type:
Article
Enhancing fetal alcohol spectrum disorders diagnosis with a classifier based on the intracerebellar gradient of volumetric undersizing.
Published in:
Human Brain Mapping, 2023, v. 44, n. 11, p. 4321, doi. 10.1002/hbm.26348
By:
- Fraize, Justine;
- Fischer, Clara;
- Elmaleh‐Bergès, Monique;
- Kerdreux, Eliot;
- Beggiato, Anita;
- Ntorkou, Alexandra;
- Duchesnay, Edouard;
- Bekha, Dhaif;
- Boespflug‐Tanguy, Odile;
- Delorme, Richard;
- Hertz‐Pannier, Lucie;
- Germanaud, David
Publication type:
Article
Extracranial carotid arteriopathy in stroke-free children with sickle cell anemia: detection by submandibular Doppler sonography.
Published in:
Pediatric Radiology, 2014, v. 44, n. 5, p. 587, doi. 10.1007/s00247-014-2880-9
By:
- Verlhac, Suzanne;
- Balandra, Stéphane;
- Cussenot, Isabelle;
- Kasbi, Florence;
- Vasile, Manuela;
- Kheniche, Ahmed;
- Elmaleh-Bergès, Monique;
- Ithier, Ghislaine;
- Benkerrou, Malika;
- Bernaudin, Françoise;
- Sebag, Guy
Publication type:
Article
Pericallosal lipoma and middle cerebral artery aneurysm: a coincidence?
Published in:
Pediatric Radiology, 2010, v. 40, n. 8, p. 1417, doi. 10.1007/s00247-009-1534-9
By:
- Sommet, Julie;
- Schiff, Manuel;
- Evrard, Philippe;
- Blanc, Raphaël;
- Elmaleh-Bergès, Monique
Publication type:
Article
Severe Snoring in a Child With Pycnodysostosis Treated With a Bilateral Rib Graft.
Published in:
Cleft Palate Craniofacial Journal, 2009, v. 46, n. 1, p. 93, doi. 10.1597/06-199.1
By:
- Teissier, Natacha;
- Jacquemont, Marie-Line;
- Blancal, Jean-Philippe;
- Elmaleh-Bergès, Monique;
- Van Den Abbeele, Thierry;
- Bennaceur, Selim
Publication type:
Article
Correction: Imaging of parotid anomalies in infants and children.
Published in:
2022
By:
- Chalard, François;
- Hermann, Anne-Laure;
- Elmaleh-Bergès, Monique;
- le Pointe, Hubert Ducou
Publication type:
Correction Notice
Imaging of parotid anomalies in infants and children.
Published in:
Insights into Imaging, 2022, v. 13, n. 1, p. 1, doi. 10.1186/s13244-022-01166-y
By:
- Chalard, François;
- Hermann, Anne-Laure;
- Elmaleh-Bergès, Monique;
- Ducou le Pointe, Hubert
Publication type:
Article
High prevalence of syndromic disorders in patients with non-isolated central precocious puberty.
Published in:
European Journal of Endocrinology, 2018, v. 179, n. 6, p. 373, doi. 10.1530/EJE-18-0613
By:
- Wannes, Selmen;
- Elmaleh-Bergès, Monique;
- Simon, Dominique;
- Zénaty, Delphine;
- Martinerie, Laetitia;
- Storey, Caroline;
- Gelwane, Georges;
- Paulsen, Anne;
- Ecosse, Emmanuel;
- De Roux, Nicolas;
- Care, Jean Claude;
- Léger, Juliane
Publication type:
Article
Spectral-based thickness profiling of the corpus callosum enhances anomaly detection in fetal alcohol spectrum disorders.
Published in:
Frontiers in Neuroscience, 2023, p. 01, doi. 10.3389/fnins.2023.1289013
By:
- Fraize, Justine;
- Leprince, Yann;
- Elmaleh-Bergès, Monique;
- Kerdreux, Eliot;
- Delorme, Richard;
- Hertz-Pannier, Lucie;
- Lefèvre, Julien;
- Germanaud, David
Publication type:
Article
Mapping corpus callosum surface reduction in fetal alcohol spectrum disorders with sulci and connectivity-based parcellation.
Published in:
Frontiers in Neuroscience, 2023, p. 01, doi. 10.3389/fnins.2023.1188367
By:
- Fraize, Justine;
- Convert, Gabrielle;
- Leprince, Yann;
- Sylvestre-Marconville, Florent;
- Kerdreux, Eliot;
- Auzias, Guillaume;
- Lefèvre, Julien;
- Delorme, Richard;
- Elmaleh-Bergès, Monique;
- Hertz-Pannier, Lucie;
- Germanaud, David
Publication type:
Article
Neurological outcome in WDR62 primary microcephaly.
Published in:
Developmental Medicine & Child Neurology, 2022, v. 64, n. 4, p. 509, doi. 10.1111/dmcn.15060
By:
- Ruaud, Lyse;
- Drunat, Séverine;
- Elmaleh‐Bergès, Monique;
- Ernault, Anais;
- Guilmin Crepon, Sophie;
- El Ghouzzi, Vincent;
- Auvin, Stéphane;
- Verloes, Alain;
- Passemard, Sandrine;
- Van Maldergem, Lionel;
- Engel, Camille;
- Altuzarra, Cecilia;
- Lamidieu, Charlie;
- Bayat, Allan;
- Moortgat, Stéphanie;
- Pelc, Karine;
- Maystadt, Isabelle;
- Abramowicz, Marc;
- Pirson, Isabelle;
- Duerinckx, Sarah
Publication type:
Article
Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
Published in:
Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 415, doi. 10.1007/s10545-017-0021-y
By:
- Paquay, Stéphanie;
- Bourillon, Agnès;
- Pichard, Samia;
- Benoist, Jean-François;
- Lonlay, Pascale;
- Dobbelaere, Dries;
- Fouilhoux, Alain;
- Guffon, Nathalie;
- Rouvet, Isabelle;
- Labarthe, François;
- Mention, Karine;
- Touati, Guy;
- Valayannopoulos, Vassili;
- Ogier de Baulny, Hélène;
- Elmaleh-Bergès, Monique;
- Acquaviva-Bourdain, Cécile;
- Vianey-Saban, Christine;
- Schiff, Manuel
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
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

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