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Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3057, doi. 10.1002/ajmg.a.62361
By:
- Blanluet, Maud;
- Chantot‐Bastaraud, Sandra;
- Chambon, Pascal;
- Cassinari, Kévin;
- Vera, Gabriella;
- Goldenberg, Alice;
- Keren, Boris;
- Le Meur, Nathalie;
- Hannequin, Didier;
- Mace, Bertrand;
- Siffroi, Jean‐Pierre;
- Frebourg, Thierry;
- Nicolas, Gaël;
- Joly‐Helas, Géraldine
Publication type:
Article
Robust methylation-based classification of brain tumours using nanopore sequencing.
Published in:
Neuropathology & Applied Neurobiology, 2023, v. 49, n. 1, p. 1, doi. 10.1111/nan.12856
By:
- Kuschel, Luis P.;
- Hench, Jürgen;
- Frank, Stephan;
- Bratic Hench, Ivana;
- Girard, Elodie;
- Blanluet, Maud;
- Masliah-Planchon, Julien;
- Misch, Martin;
- Onken, Julia;
- Czabanka, Marcus;
- Dongsheng Yuan;
- Lukassen, Sören;
- Karau, Philipp;
- Ishaque, Naveed;
- Hain, Elisabeth G.;
- Heppner, Frank;
- Idbaih, Ahmed;
- Behr, Nikolaus;
- Harms, Christoph;
- Capper, David
Publication type:
Article
Description of Copy Number Variations in a Series of Children and Adolescents with FASD in Reunion Island.
Published in:
Children, 2023, v. 10, n. 4, p. 694, doi. 10.3390/children10040694
By:
- Sennsfelder, Laëtitia;
- Guilly, Susie;
- Leruste, Sébastien;
- Hoareau, Ludovic;
- Léocadie, Willy;
- Beuvain, Pauline;
- Nekaa, Meïssa;
- Bagard, Maïté;
- Robin, Stéphanie;
- Lanneaux, Justine;
- Etchebarren, Léa;
- Tallot, Marilyn;
- Spodenkiewicz, Michel;
- Alessandri, Jean-Luc;
- Morel, Godelieve;
- Blanluet, Maud;
- Gueguen, Paul;
- Roy-Doray, Bérénice
Publication type:
Article
Infantile‐onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!
Published in:
2023
By:
- Baide‐Mairena, Heidy;
- Coget, Arthur;
- Leboucq, Nicolas;
- Procaccio, Vincent;
- Blanluet, Maud;
- Meyer, Pierre;
- Malinge, Marie‐Claire;
- François‐Heude, Marie‐Céline;
- Moreno, Mathis;
- Geneviève, David;
- Marelli, Cecilia;
- Roubertie, Agathe
Publication type:
Case Study
SHH medulloblastoma in a young adult with a TCF4 germline pathogenic variation.
Published in:
2019
By:
- Blanluet, Maud;
- Bourneix, Christine;
- Masliah-Planchon, Julien;
- Pierron, Gaëlle;
- Delattre, Olivier;
- Rapinat, Audrey;
- Gentien, David;
- Oumoussa, Badreddine Mohand;
- Ayrault, Olivier;
- Pouponnot, Celio;
- Andrianteranagna, Mamy;
- Bourdeaut, Franck;
- Doz, François;
- Giurgea, Irina;
- Bielle, Franck;
- Girard, Elodie;
- Clemenceau, Stéphane;
- Burglen, Lydie;
- Doummar, Diane
Publication type:
Case Study
ETMR-like infantile cerebellar embryonal tumors in the extended morphologic spectrum of DICER1-related tumors.
Published in:
2019
By:
- Uro-Coste, Emmanuelle;
- Masliah-Planchon, Julien;
- Siegfried, Aurore;
- Blanluet, Maud;
- Lambo, Sander;
- Kool, Marcel;
- Roujeau, Thomas;
- Boetto, Sergio;
- Palenzuela, Gilles;
- Bertozzi, Anne-Isabelle;
- Gambart, Marion;
- Coupier, Isabelle;
- Oliver-Petit, Isabelle;
- Golmard, Lisa;
- Julia, Sophie;
- Savagner, Fréderique;
- Mohand-Oumoussa, Badreddine;
- Tauziede-Espariat, Arnault;
- Delisle, Marie-Bernadette;
- Figarella-Branger, Dominique
Publication type:
Case Study

Found: 6

Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings.

Robust methylation-based classification of brain tumours using nanopore sequencing.

Description of Copy Number Variations in a Series of Children and Adolescents with FASD in Reunion Island.

Infantile‐onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!

SHH medulloblastoma in a young adult with a TCF4 germline pathogenic variation.

ETMR-like infantile cerebellar embryonal tumors in the extended morphologic spectrum of DICER1-related tumors.