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Author/Creator Isidor, Bertrand

31. Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: A new syndrome?. Issue 8 (3rd July 2013)

Authors:
Isidor, Bertrand; Le Meur, Guylène; Conti, Carole; Caldagues, Emmanuelle; Lainey, Elodie; Launay, Elise; Leclair, Marc David; Le Francois, Thomas; Pichon, Olivier; Boisseau, Pierre; Migraine, Audrey; Keren, Boris; Caignec, Cédric Le; Crow, Yanick J; David, Albert
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 8(2013:Aug.)
Page Start:
1829
Record Type:
Journal Article
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32. Familial autosomal dominant severe ankyloglossia with tooth abnormalities. Issue 7 (28th April 2018)

Authors:
Lenormand, Anaëlle; Khonsari, Roman; Corre, Pierre; Perrin, Jean Philippe; Boscher, Cécile; Nizon, Mathilde; Pichon, Olivier; David, Albert; Le Caignec, Cedric; Bertin, Helios; Isidor, Bertrand
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 7(2018)
Page Start:
1614
Record Type:
Journal Article
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34. First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients. Issue 5 (27th February 2022)

Authors:
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, Ta...
Journal:
Clinical genetics
Issue:
Volume 101:Issue 5/6(2022)
Page Start:
494
Record Type:
Journal Article
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35. Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features. Issue 6 (4th April 2018)

Authors:
Miguet, Marguerite; Faivre, Laurence; Amiel, Jeanne; Nizon, Mathilde; Touraine, Renaud; Prieur, Fabienne; Pasquier, Laurent; Lefebvre, Mathilde; Thevenon, Julien; Dubourg, Christèle; Julia, Sophie; Sarret, Catherine; Remerand, Ganaëlle; Francannet, Christine; Laffargue, Fanny; Boespflug-Tanguy, O...
Journal:
Journal of medical genetics
Issue:
Volume 55:Issue 6(2018)
Page Start:
359
Record Type:
Journal Article
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36. GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila. Issue 8 (4th May 2013)

Authors:
Willemsen, Marjolein H; Nijhof, Bonnie; Fenckova, Michaela; Nillesen, Willy M; Bongers, Ernie M H F; Castells-Nobau, Anna; Asztalos, Lenke; Viragh, Erika; van Bon, Bregje W M; Tezel, Emre; Veltman, Joris A; Brunner, Han G; de Vries, Bert B A; de Ligt, Joep; Yntema, Helger G; van Bokhoven, Hans; I...
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 8(2013)
Page Start:
507
Record Type:
Journal Article
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37. Genotype/phenotype correlations of childhood‐onset congenital sideroblastic anaemia in a European cohort. (23rd July 2019)

Authors:
Fouquet, Cyrielle; Le Rouzic, Marie‐Amelyne; Leblanc, Thierry; Fouyssac, Fanny; Leverger, Guy; Hessissen, Laila; Marlin, Sandrine; Bourrat, Emmanuelle; Fahd, Mony; Raffoux, Emmanuel; Vannier, Jean‐Pierre; Jäkel, Nadja; Knoefler, Ralf; Triolo, Valerie; Pasquet, Marlene; Bayart, Sophie; Thuret, Isa...
Journal:
British journal of haematology
Issue:
Volume 187:Number 4(2019)
Page Start:
530
Record Type:
Journal Article
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38. Growth charts in Kabuki syndrome 1. Issue 3 (26th December 2019)

Authors:
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, ...
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 3(2020)
Page Start:
446
Record Type:
Journal Article
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39. Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis. Issue 11 (12th July 2019)

Authors:
Chatron, Nicolas; Cassinari, Kevin; Quenez, Olivier; Baert‐Desurmont, Stéphanie; Bardel, Claire; Buisine, Marie‐Pierre; Calpena, Eduardo; Capri, Yline; Corominas Galbany, Jordi; Diguet, Flavie; Edery, Patrick; Isidor, Bertrand; Labalme, Audrey; Le Caignec, Cedric; Lévy, Jonathan; Lecoquierre, Fra...
Journal:
Human mutation
Issue:
Volume 40:Issue 11(2019)
Page Start:
1993
Record Type:
Journal Article
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40. Increasing knowledge in IGF1R defects: lessons from 35 new patients. Issue 3 (5th October 2019)

Authors:
Giabicani, Eloïse; Willems, Marjolaine; Steunou, Virginie; Chantot-Bastaraud, Sandra; Thibaud, Nathalie; Abi Habib, Walid; Azzi, Salah; Lam, Bich; Bérard, Laurence; Bony-Trifunovic, Hélène; Brachet, Cécile; Brischoux-Boucher, Elise; Caldagues, Emmanuelle; Coutant, Regis; Cuvelier, Marie-Laure; Ge...
Journal:
Journal of medical genetics
Issue:
Volume 57:Issue 3(2020)
Page Start:
160
Record Type:
Journal Article
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