Works matching AU Amiel, Jeanne

Results: 122
    1
    2

    GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.

    Published in:
    Nature Communications, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41467-024-54549-8
    By:
    • Zanetti, Andrea;
    • Dujardin, Gwendal;
    • Fares-Taie, Lucas;
    • Amiel, Jeanne;
    • Roger, Jérôme E.;
    • Audo, Isabelle;
    • Robert, Matthieu P.;
    • David, Pierre;
    • Jung, Vincent;
    • Goudin, Nicolas;
    • Guerrera, Ida Chiara;
    • Moriceau, Stéphanie;
    • Amana, Danielle;
    • Assia Batzir, Nurit;
    • Bachar-Zipori, Anat;
    • Basel Salmon, Lina;
    • Boddaert, Nathalie;
    • Briault, Sylvain;
    • Bruel, Ange-Line;
    • Costet-Fighiera, Christine
    Publication type:
    Article
    3

    An automatic facial landmarking for children with rare diseases.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1210, doi. 10.1002/ajmg.a.63126
    By:
    • Hennocq, Quentin;
    • Bongibault, Thomas;
    • Bizière, Matthieu;
    • Delassus, Ombline;
    • Douillet, Maxime;
    • Cormier‐Daire, Valérie;
    • Amiel, Jeanne;
    • Lyonnet, Stanislas;
    • Marlin, Sandrine;
    • Rio, Marlène;
    • Picard, Arnaud;
    • Khonsari, Roman Hossein;
    • Garcelon, Nicolas
    Publication type:
    Article
    4

    Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 77, doi. 10.1002/ajmg.a.62989
    By:
    • Ranza, Emmanuelle;
    • Le Gouez, Morgane;
    • Guimier, Anne;
    • Dunlop, Naziha Khen;
    • Beaudoin, Sylvie;
    • Malan, Valérie;
    • Michot, Caroline;
    • Baujat, Geneviève;
    • Rio, Marlène;
    • Cormier‐Daire, Valérie;
    • Abadie, Véronique;
    • Sarnacki, Sabine;
    • Delacourt, Christophe;
    • Lyonnet, Stanislas;
    • Attié‐Bitach, Tania;
    • Pingault, Véronique;
    • Rousseau, Véronique;
    • Amiel, Jeanne
    Publication type:
    Article
    5

    Broadening the phenotypic spectrum of EVEN‐PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2819, doi. 10.1002/ajmg.a.62883
    By:
    • Pacio‐Miguez, Marta;
    • Parrón‐Pajares, Manuel;
    • Gordon, Christopher T.;
    • Santos‐Simarro, Fernando;
    • Rodríguez Jiménez, Carmen;
    • Mena, Rocio;
    • Rueda Arenas, Inmaculada;
    • F. Montaño, Victoria Eugenia;
    • Fernández, María;
    • Solís, Mario;
    • del Pozo, Ángela;
    • Amiel, Jeanne;
    • García‐Miñaur, Sixto;
    • Palomares‐Bralo, María
    Publication type:
    Article
    6

    Orofacial motor dysfunction in Moebius syndrome.

    Published in:
    2020
    By:
    • Renault, Francis;
    • Flores‐Guevara, Roberto;
    • Baudon, Jean‐Jacques;
    • Sergent, Bernard;
    • Charpillet, Valérie;
    • Denoyelle, Françoise;
    • Thierry, Briac;
    • Amiel, Jeanne;
    • Gitiaux, Cyril;
    • Vazquez, Marie‐Paule;
    • Flores-Guevara, Roberto;
    • Baudon, Jean-Jacques;
    • Vazquez, Marie-Paule
    Publication type:
    journal article
    7

    Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma.

    Published in:
    Nature, 2008, v. 455, n. 7215, p. 967, doi. 10.1038/nature07398
    By:
    • Janoueix-Lerosey, Isabelle;
    • Lequin, Delphine;
    • Brugières, Laurence;
    • Ribeiro, Agnès;
    • de Pontual, Loïc;
    • Combaret, Valérie;
    • Raynal, Virginie;
    • Puisieux, Alain;
    • Schleiermacher, Gudrun;
    • Pierron, Gaëlle;
    • Valteau-Couanet, Dominique;
    • Frebourg, Thierry;
    • Michon, Jean;
    • Lyonnet, Stanislas;
    • Amiel, Jeanne;
    • Delattre, Olivier
    Publication type:
    Article
    8

    Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.

    Published in:
    Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-22627-w
    By:
    • Kour, Sukhleen;
    • Rajan, Deepa S.;
    • Fortuna, Tyler R.;
    • Anderson, Eric N.;
    • Ward, Caroline;
    • Lee, Youngha;
    • Lee, Sangmoon;
    • Shin, Yong Beom;
    • Chae, Jong-Hee;
    • Choi, Murim;
    • Siquier, Karine;
    • Cantagrel, Vincent;
    • Amiel, Jeanne;
    • Stolerman, Elliot S.;
    • Barnett, Sarah S.;
    • Cousin, Margot A.;
    • Castro, Diana;
    • McDonald, Kimberly;
    • Kirmse, Brian;
    • Nemeth, Andrea H.
    Publication type:
    Article
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    Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.

    Published in:
    Clinical Genetics, 2025, v. 107, n. 5, p. 495, doi. 10.1111/cge.14682
    By:
    • Hennocq, Quentin;
    • Lienhard, Olivier;
    • Rao, Dipesh;
    • Amiel, Jeanne;
    • Benichou, Ludovic;
    • Bongibault, Thomas;
    • Hidalgo, Ana‐Julia Bravo;
    • Cormier‐Daire, Valérie;
    • Lyonnet, Stanislas;
    • Picard, Arnaud;
    • Rio, Marlène;
    • Zaiter, Ahmed;
    • Garcelon, Nicolas;
    • Tkemaladze, Tinatin;
    • Khonsari, Roman H.
    Publication type:
    Article
    11

    Low risk of embryonic and other cancers in PIK3CA‐related overgrowth spectrum: Impact on screening recommendations.

    Published in:
    Clinical Genetics, 2023, v. 104, n. 5, p. 554, doi. 10.1111/cge.14410
    By:
    • Faivre, Laurence;
    • Crépin, Jean‐Charles;
    • Réda, Manon;
    • Nambot, Sophie;
    • Carmignac, Virginie;
    • Abadie, Caroline;
    • Mirault, Tristan;
    • Faure‐Conter, Cécile;
    • Mazereeuw‐Hautier, Juliette;
    • Maza, Aude;
    • Puzenat, Eve;
    • Collonge‐Rame, Marie‐Agnès;
    • Bursztejn, Anne‐Claire;
    • Philippe, Christophe;
    • Thauvin‐Robinet, Christel;
    • Chevarin, Martin;
    • Abasq‐Thomas, Claire;
    • Amiel, Jeanne;
    • Arpin, Stéphanie;
    • Barbarot, Sébastien
    Publication type:
    Article
    12

    First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.

    Published in:
    Clinical Genetics, 2022, v. 101, n. 5/6, p. 494, doi. 10.1111/cge.14123
    By:
    • Chesneau, Bertrand;
    • Aubert-Mucca, Marion;
    • Fremont, Félix;
    • Pechmeja, Jacmine;
    • Soler, Vincent;
    • Isidor, Bertrand;
    • Nizon, Mathilde;
    • Dollfus, Hélène;
    • Kaplan, Josseline;
    • Fares-Taie, Lucas;
    • Rozet, Jean-Michel;
    • Busa, Tiffany;
    • Lacombe, Didier;
    • Naudion, Sophie;
    • Amiel, Jeanne;
    • Rio, Marlène;
    • Attie-Bitach, Tania;
    • Lesage, Cécile;
    • Thouvenin, Dominique;
    • Odent, Sylvie
    Publication type:
    Article
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    Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 4, p. 481, doi. 10.1038/ejhg.2014.132
    By:
    • Romanelli Tavares, Vanessa L;
    • Gordon, Christopher T;
    • Zechi-Ceide, Roseli M;
    • Kokitsu-Nakata, Nancy Mizue;
    • Voisin, Norine;
    • Tan, Tiong Y;
    • Heggie, Andrew A;
    • Vendramini-Pittoli, Siulan;
    • Propst, Evan J;
    • Papsin, Blake C;
    • Torres, Tatiana T;
    • Buermans, Henk;
    • Capelo, Luciane Portas;
    • den Dunnen, Johan T;
    • Guion-Almeida, Maria L;
    • Lyonnet, Stanislas;
    • Amiel, Jeanne;
    • Passos-Bueno, Maria Rita
    Publication type:
    Article
    15

    NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 2, p. 195, doi. 10.1038/ejhg.2012.140
    By:
    • Philippe, Orianne;
    • Rio, Marlène;
    • Malan, Valérie;
    • Van Esch, Hilde;
    • Baujat, Geneviève;
    • Bahi-Buisson, Nadia;
    • Valayannopoulos, Vassili;
    • Gesny, Roseline;
    • Bonnefont, Jean-Paul;
    • Munnich, Arnold;
    • Froyen, Guy;
    • Amiel, Jeanne;
    • Boddaert, Nathalie;
    • Colleaux, Laurence
    Publication type:
    Article
    16

    Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 9, p. 917, doi. 10.1038/ejhg.2012.35
    By:
    • Jannot, Anne-Sophie;
    • Amiel, Jeanne;
    • Pelet, Anna;
    • Lantieri, Francesca;
    • Fernandez, Raquel M;
    • Verheij, Joke B G M;
    • Garcia-Barcelo, Merce;
    • Arnold, Stacey;
    • Ceccherini, Isabella;
    • Borrego, Salud;
    • Hofstra, Robert M W;
    • Tam, Paul K H;
    • Munnich, Arnold;
    • Chakravarti, Aravinda;
    • Clerget-Darpoux, Françoise;
    • Lyonnet, Stanislas
    Publication type:
    Article
    17

    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
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    Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome.

    Published in:
    European Journal of Human Genetics, 2005, v. 13, n. 5, p. 690, doi. 10.1038/sj.ejhg.5201383
    By:
    • Sanlaville, Damien;
    • Genevieve, David;
    • Bernardin, Céline;
    • Amiel, Jeanne;
    • Baumann, Clarisse;
    • de Blois, Marie-Christine;
    • Cormier-Daire, Valérie;
    • Gerard, Bénédicte;
    • Gerard, Marion;
    • Le Merrer, Martine;
    • Parent, Philippe;
    • Prieur, Fabienne;
    • Prieur, Marguerite;
    • Raoul, Odile;
    • Toutain, Annick;
    • Verloes, Alain;
    • Viot, Géraldine;
    • Romana, Serge;
    • Munnich, Arnold;
    • Lyonnet, Stanislas
    Publication type:
    Article
    20

    Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature.

    Published in:
    European Journal of Human Genetics, 2002, v. 10, n. 11, p. 699, doi. 10.1038/sj.ejhg.5200879
    By:
    • Faivre, Laurence;
    • Gosset, Philippe;
    • Cormier-Daire, Valérie;
    • Odent, Sylvie;
    • Amiel, Jeanne;
    • Giurgea, Irina;
    • Nassogne, Marie-Cécile;
    • Pasquier, Laurent;
    • Munnich, Arnold;
    • Romana, Serge;
    • Prieur, Marguerite;
    • Vekemans, Michel;
    • de Blois, Marie-Christine;
    • Turleau, Catherine
    Publication type:
    Article
    21

    TP63 gene mutation in ADULT syndrome.

    Published in:
    European Journal of Human Genetics, 2001, v. 9, n. 8, p. 642, doi. 10.1038/sj.ejhg.5200676
    By:
    • Amiel, Jeanne;
    • Bougeard, Gaëlle;
    • Francannet, Christine;
    • Raclin, Valérie;
    • Munnich, Arnold;
    • Lyonnet, Stanislas;
    • Frebourg, Thierry
    Publication type:
    Article
    22

    A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation.

    Published in:
    European Journal of Human Genetics, 2001, v. 9, n. 5, p. 319, doi. 10.1038/sj.ejhg.5200591
    By:
    • Colleaux, Laurence;
    • Rio, Marlène;
    • Heuertz, Solange;
    • Moindrault, Séverine;
    • Turleau, Catherine;
    • Ozilou, Catherine;
    • Gosset, Philippe;
    • Raoult, Odile;
    • Lyonnet, Stanislas;
    • Cormier-Daire, Valérie;
    • Amiel, Jeanne;
    • Le Merrer, Martine;
    • Picq, Monique;
    • de Blois, Marie-Christine;
    • Prieur, Marguerite;
    • Romana, Serge;
    • Cornelis, François;
    • Vekemans, Michel;
    • Munnich, Arnold
    Publication type:
    Article
    23

    PAX2 mutations in renal–coloboma syndrome: mutational hotspot and germline mosaicism.

    Published in:
    European Journal of Human Genetics, 2000, v. 8, n. 11, p. 820, doi. 10.1038/sj.ejhg.5200539
    By:
    • Amiel, Jeanne;
    • Audollent, Sophie;
    • Joly, Dominique;
    • Dureau, Pascal;
    • Salomon, Rémi;
    • Tellier, Anne-Lorraine;
    • Augé, Joelle;
    • Bouissou, François;
    • Antignac, Corinne;
    • Gubler, Marie-Claire;
    • Eccles, Michel R;
    • Munnich, Arnold;
    • Vekemans, Michel;
    • Lyonnet, Stanislas;
    • Attié-Bitach, Tania
    Publication type:
    Article
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    Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

    Published in:
    Nature Genetics, 2012, v. 44, n. 6, p. 639, doi. 10.1038/ng.2262
    By:
    • Koolen, David A;
    • Kramer, Jamie M;
    • Neveling, Kornelia;
    • Nillesen, Willy M;
    • Moore-Barton, Heather L;
    • Elmslie, Frances V;
    • Toutain, Annick;
    • Amiel, Jeanne;
    • Malan, Valérie;
    • Tsai, Anne Chun-Hui;
    • Cheung, Sau Wai;
    • Gilissen, Christian;
    • Verwiel, Eugene T P;
    • Martens, Sarah;
    • Feuth, Ton;
    • Bongers, Ernie M H F;
    • de Vries, Petra;
    • Scheffer, Hans;
    • Vissers, Lisenka E L M;
    • de Brouwer, Arjan P M
    Publication type:
    Article
    28

    Germline deletion of the miR-17?92 cluster causes skeletal and growth defects in humans.

    Published in:
    Nature Genetics, 2011, v. 43, n. 10, p. 1026, doi. 10.1038/ng.915
    By:
    • de Pontual, Loïc;
    • Yao, Evelyn;
    • Callier, Patrick;
    • Faivre, Laurence;
    • Drouin, Valérie;
    • Cariou, Sandra;
    • Van Haeringen, Arie;
    • Geneviève, David;
    • Goldenberg, Alice;
    • Oufadem, Myriam;
    • Manouvrier, Sylvie;
    • Munnich, Arnold;
    • Vidigal, Joana Alves;
    • Vekemans, Michel;
    • Lyonnet, Stanislas;
    • Henrion-Caude, Alexandra;
    • Ventura, Andrea;
    • Amiel, Jeanne
    Publication type:
    Article
    29

    Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.

    Published in:
    Nature Genetics, 2009, v. 41, n. 3, p. 359, doi. 10.1038/ng.329
    By:
    • Benko, Sabina;
    • Fantes, Judy A.;
    • Amiel, Jeanne;
    • Kleinjan, Dirk-Jan;
    • Thomas, Sophie;
    • Ramsay, Jacqueline;
    • Jamshidi, Negar;
    • Essafi, Abdelkader;
    • Heaney, Simon;
    • Gordon, Christopher T.;
    • McBride, David;
    • Golzio, Christelle;
    • Fisher, Malcolm;
    • Perry, Paul;
    • Abadie, Véronique;
    • Ayuso, Carmen;
    • Holder-Espinasse, Muriel;
    • Kilpatrick, Nicky;
    • Lees, Melissa M.;
    • Picard, Arnaud
    Publication type:
    Article
    30

    Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis.

    Published in:
    Nature Genetics, 2007, v. 39, n. 4, p. 454, doi. 10.1038/ng1993
    By:
    • Baala, Lekbir;
    • Briault, Sylvain;
    • Etchevers, Heather C;
    • Laumonnier, Frédéric;
    • Natiq, Abdelhafid;
    • Amiel, Jeanne;
    • Boddaert, Nathalie;
    • Picard, Capucine;
    • Sbiti, Aziza;
    • Asermouh, Abdellah;
    • Attié-Bitach, Tania;
    • Encha-Razavi, Féréchté;
    • Munnich, Arnold;
    • Sefiani, Abdelaziz;
    • Lyonnet, Stanislas
    Publication type:
    Article
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    Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans.

    Published in:
    Human Molecular Genetics, 2023, v. 32, n. 3, p. 353, doi. 10.1093/hmg/ddac084
    By:
    • Guimier, Anne;
    • Pontual, Loïc de;
    • Braddock, Stephen R;
    • Torti, Erin;
    • Pérez-Jurado, Luis A;
    • Muñoz-Cabello, Patricia;
    • Arumí, Montserrat;
    • Monaghan, Kristin G;
    • Lee, Hane;
    • Wang, Lee-kai;
    • Pluym, Ilina D;
    • Lynch, Sally Ann;
    • Stals, Karen;
    • Ellard, Sian;
    • Muller, Cécile;
    • Houyel, Lucile;
    • Cohen, Laurence;
    • Lyonnet, Stanislas;
    • Bajolle, Fanny;
    • Amiel, Jeanne
    Publication type:
    Article
    36

    Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 18, p. 3083, doi. 10.1093/hmg/ddac098
    By:
    • Riedhammer, Korbinian M;
    • Burgemeister, Anna L;
    • Cantagrel, Vincent;
    • Amiel, Jeanne;
    • Siquier-Pernet, Karine;
    • Boddaert, Nathalie;
    • Hertecant, Jozef;
    • Kannouche, Patricia L;
    • Pouvelle, Caroline;
    • Htun, Stephanie;
    • Slavotinek, Anne M;
    • Beetz, Christian;
    • Diego-Alvarez, Dan;
    • Kampe, Kapil;
    • Fleischer, Nicole;
    • Awamleh, Zain;
    • Weksberg, Rosanna;
    • Kopajtich, Robert;
    • Meitinger, Thomas;
    • Suleiman, Jehan
    Publication type:
    Article
    37

    Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.

    Published in:
    Human Molecular Genetics, 2020, v. 29, n. 22, p. 3662, doi. 10.1093/hmg/ddaa258
    By:
    • Martin, Ella M M A;
    • Enriquez, Annabelle;
    • Sparrow, Duncan B;
    • Humphreys, David T;
    • McInerney-Leo, Aideen M;
    • Leo, Paul J;
    • Duncan, Emma L;
    • Iyer, Kavitha R;
    • Greasby, Joelene A;
    • Ip, Eddie;
    • Giannoulatou, Eleni;
    • Sheng, Delicia;
    • Wohler, Elizabeth;
    • Dimartino, Clémantine;
    • Amiel, Jeanne;
    • Capri, Yline;
    • Lehalle, Daphné;
    • Mory, Adi;
    • Wilnai, Yael;
    • Lebenthal, Yael
    Publication type:
    Article
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    Polyalanine expansions in human.

    Published in:
    Human Molecular Genetics, 2004, v. 13, n. 2, p. r235, doi. 10.1093/hmg/ddh251
    By:
    • Amiel, Jeanne;
    • Trochet, Delphine;
    • Clément-Ziza, Mathieu;
    • Munnich, Arnold;
    • Lyonnet, Stanislas
    Publication type:
    Article
    41

    Polyalanine expansions in human.

    Published in:
    Human Molecular Genetics, 2004, v. 13, n. suppl_2, p. R235, doi. 10.1093/hmg/ddh251
    By:
    • Amiel, Jeanne;
    • Trochet, Delphine;
    • Clément-Ziza, Mathieu;
    • Munnich, Arnold;
    • Lyonnet, Stanislas
    Publication type:
    Article
    42

    Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse).

    Published in:
    Human Molecular Genetics, 2003, v. 12, n. 23, p. 3173, doi. 10.1093/hmg/ddg339
    By:
    • de Pontual, Loïc;
    • Népote, Virginie;
    • Attié-Bitach, Tania;
    • Al Halabiah, Hassan;
    • Trang, Ha;
    • Elghouzzi, Vincent;
    • Levacher, Béatrice;
    • Benihoud, Karim;
    • Augé, Joëlle;
    • Faure, Christophe;
    • Laudier, Béatrice;
    • Vekemans, Michel;
    • Munnich, Arnold;
    • Perricaudet, Michel;
    • Guillemot, François;
    • Gaultier, Claude;
    • Lyonnet, Stanislas;
    • Simonneau, Michel;
    • Amiel, Jeanne
    Publication type:
    Article
    43

    A genomic rearrangement resulting in a tandem duplication is associated with split hand–split foot malformation 3 (SHFM3) at 10q24.

    Published in:
    Human Molecular Genetics, 2003, v. 12, n. 16, p. 1959, doi. 10.1093/hmg/ddg212
    By:
    • de Mollerat, Xavier J.;
    • Gurrieri, Fiorella;
    • Morgan, Chad T.;
    • Sangiorgi, Eugenio;
    • Everman, David B.;
    • Gaspari, Paola;
    • Amiel, Jeanne;
    • Bamshad, Michael J.;
    • Lyle, Robert;
    • Blouin, Jean-Louis;
    • Allanson, Judith E.;
    • Le Marec, Bernard;
    • Wilson, Melba;
    • Braverman, Nancy E.;
    • Radhakrishna, Uppala;
    • Delozier-Blanchet, Celia;
    • Abbott, Albert;
    • Elghouzzi, Vincent;
    • Antonarakis, Stylianos;
    • Stevenson, Roger E.
    Publication type:
    Article
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    Cherubism as a systemic skeletal disease: evidence from an aggressive case.

    Published in:
    2020
    By:
    • Morice, Anne;
    • Joly, Aline;
    • Ricquebourg, Manon;
    • Maruani, Gérard;
    • Durand, Emmanuel;
    • Galmiche, Louise;
    • Amiel, Jeanne;
    • Vial, Yoann;
    • Cavé, Hélène;
    • Belhous, Kahina;
    • Piketty, Marie;
    • Cohen-Solal, Martine;
    • Berdal, Ariane;
    • Collet, Corinne;
    • Picard, Arnaud;
    • Coudert, Amelie E.;
    • Kadlub, Natacha
    Publication type:
    journal article
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