List of bibliographic references indexed by Mutation
Number of relevant bibliographic references: 61.
[0-20] [
0 - 20][
0 - 50][
20-40]
| Ident. | Authors (with country if any) | Title |
|---|
| 001528 (2013) |
| ORAL PRESENTATIONS |
| 001648 (2013) |
Flore Zufferey [France] ; Smaïl Hadj-Rabia [France] ; Annachiara De Sandre-Giovannoli [France] ; Jean-Louis Dufier [France] ; Bruno Leheup [France] ; Cyril Schweitze [France] ; Christine Bodemer [France] ; Valérie Cormier-Daire [France] ; Martine Le Merrer [France] | Acro‐osteolysis, keloid like‐lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type |
| 001E00 (2012) |
Fernando Benavides [États-Unis] ; Carlos Perez [États-Unis] ; Jorge Blando [États-Unis] ; Oscar Contreras [États-Unis] ; Jianjun Shen [États-Unis] ; Lisa M. Coussens [États-Unis] ; Susan M. Fischer [États-Unis] ; Donna F. Kusewitt [États-Unis] ; John Digiovanni [États-Unis] ; Claudio J. Conti [États-Unis] | Protective role of cathepsin L in mouse skin carcinogenesis |
| 001E03 (2012) |
| Poster Presentations |
| 001E28 (2012) |
Tania C Rdova-Sintjago [États-Unis] ; Nancy Villa [États-Unis] ; Clinton Canal [États-Unis] ; Raymond Booth [États-Unis] | Human serotonin 5‐HT2C G protein‐coupled receptor homology model from the β2 adrenoceptor structure: Ligand docking and mutagenesis studies |
| 001E29 (2012) |
Peter J. Mazzaglia [États-Unis] | Hereditary pheochromocytoma and paraganglioma |
| 001E32 (2012) |
Brandon Itzkovitz [Canada] ; Sarn Jiralerspong [Canada] ; Graeme Nimmo [Canada] ; Melissa Loscalzo [États-Unis] ; Dafne D. G. Horovitz [Brésil] ; Ann Snowden [États-Unis] ; Ann Moser [États-Unis] ; Steve Steinberg [États-Unis] ; Nancy Braverman [Canada] | Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3 |
| 001E36 (2012) |
O. Lidove [France] ; P. Kaminsky [France] ; E. Hachulla [France] ; V. Leguy-Seguin [France] ; C. Lavigne [France] ; I. Marie [France] ; F. Maillot [France] ; C. Serratrice [France] ; A. Masseau [France] ; P. Chérin [France] ; J. Cabane [France] ; E. Noel [France] | Fabry disease ‘The New Great Imposter’: results of the French Observatoire in Internal Medicine Departments (FIMeD) |
| 001E37 (2012) |
Juliette Piard [France] ; Alain Verloes [France] ; Hélène Cavé [France] ; Michel Peuchmaur [France] ; Selim Bennaceur [France] ; Bruno Leheup [France] | Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome–Multiple Lentigines) |
| 001E38 (2012) |
Céline Bonnet [France] ; Alice Masurel-Paulet [France] ; Asma Ali Khan [France] ; Mylène Béri-Dexheimer [France] ; Patrick Callier [France] ; Francine Mugneret [France] ; Christophe Philippe [France] ; Christel Thauvin-Robinet [France] ; Laurence Faivre [France] ; Philippe Jonveaux [France] | Exploring the potential role of disease‐causing mutation in a gene desert: Duplication of noncoding elements 5′ of GRIA3 is associated with GRIA3 silencing and X‐linked intellectual disability |
| 001E59 (2012) |
Anne Brédart [France, Niger] ; Jean-Luc Kop [France] ; Mouhamadou Fall [France] ; Sandra Pelissier [France] ; Cécile Simondi [France] ; Sylvie Dolbeault [France] ; Alain Livartowski [France] ; Anne Tardivon [France] | Anxiety and specific distress in women at intermediate and high risk of breast cancer before and after surveillance by magnetic resonance imaging and mammography versus standard mammography |
| 001E62 (2012) |
Jennifer Lafemina [États-Unis] ; Murray F. Brennan [États-Unis] | Adrenocortical carcinoma: Past, present, and future |
| 002641 (2011) |
| Research, Innovations, Clinical Vignettes Competition, Hospital Medicine 2011, May 10–13, 2011 |
| 002680 (2011) |
Bénédicte Héron [France] ; Yann Mikaeloff [France] ; Roseline Froissart [France] ; Guillaume Caridade [France] ; Irène Maire [France] ; Catherine Caillaud [France] ; Thierry Levade [France] ; Brigitte Chabrol [France] ; François Feillet [France] ; Hélène Ogier [France] ; Vassili Valayannopoulos [France] ; Helen Michelakakis [Grèce] ; Dimitrios Zafeiriou [Grèce] ; Lucy Lavery [Royaume-Uni] ; Ed Wraith [Royaume-Uni] ; Olivier Danos [France] ; Jean-Michel Heard [France] ; Marc Tardieu [France] | Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece |
| 002734 (2011) |
Murielle Mimeault [États-Unis] ; Surinder K. Batra [États-Unis] | Complex Oncogenic Signaling Networks Regulate Brain Tumor‐Initiating Cells and Their Progenies: Pivotal Roles of Wild‐Type EGFR, EGFRvIII Mutant and Hedgehog Cascades and Novel Multitargeted Therapies |
| 002795 (2011) |
| 43rd Congress of the International Society of Paediatric Oncology (SIOP) 2011 Auckland, New Zealand, 28th–30th October, 2011, SIOP Abstracts |
| 003124 (2010) |
| Abstracts |
| 003818 (2009) |
M. Willems [France] ; D. Geneviève [France] ; G. Borck [France] ; C. Baumann [France] ; G. Baujat [France] ; E. Bieth [France] ; P. Edery [France] ; C. Farra [Liban] ; M. Gerard [France] ; D. Héron [France] ; B. Leheup [France] ; M. Le Merrer [France] ; S. Lyonnet [France] ; D. Martin-Coignard [France] ; M. Mathieu [France] ; C. Thauvin-Robinet [France] ; A. Verloes [France] ; L. Colleaux [France] ; A. Munnich [France] ; V. Cormier-Daire [France] | Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families |
| 003974 (2009) |
H. Jaïdane [France, Tunisie] ; F. Sané [France] ; J. Gharbi [Tunisie] ; M. Aouni [Tunisie] ; M. B. Romond [France] ; D. Hober [France] | Coxsackievirus B4 and type 1 diabetes pathogenesis: contribution of animal models |
| 004337 (2008) |
| Paper Abstracts of the ISPD 14th International Conference |
| 004438 (2008) |
| 4th Biologie Prospective Santorini Conference, September 21–23, 2008, Santorini, Greece |
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