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Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 62, doi. 10.1002/ajmg.a.37969
By:
- Gauthier‐Vasserot, Alexandra;
- Thauvin‐Robinet, Christel;
- Bruel, Ange‐Line;
- Duffourd, Yannis;
- St‐Onge, Judith;
- Jouan, Thibaud;
- Rivière, Jean‐Baptiste;
- Heron, Delphine;
- Donadieu, Jean;
- Bellanné‐Chantelot, Christine;
- Briandet, Claire;
- Huet, Frédéric;
- Kuentz, Paul;
- Lehalle, Daphné;
- Duplomb‐Jego, Laurence;
- Gautier, Elodie;
- Maystadt, Isabelle;
- Pinson, Lucile;
- Amram, Daniel;
- El Chehadeh, Salima
Publication type:
Article
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.
Published in:
Nature Genetics, 2014, v. 46, n. 8, p. 905, doi. 10.1038/ng.3031
By:
- Thauvin-Robinet, Christel;
- Lee, Jaclyn S;
- Lopez, Estelle;
- Herranz-Pérez, Vicente;
- Shida, Toshinobu;
- Franco, Brunella;
- Jego, Laurence;
- Ye, Fan;
- Pasquier, Laurent;
- Loget, Philippe;
- Gigot, Nadège;
- Aral, Bernard;
- Lopes, Carla A M;
- St-Onge, Judith;
- Bruel, Ange-Line;
- Thevenon, Julien;
- González-Granero, Susana;
- Alby, Caroline;
- Munnich, Arnold;
- Vekemans, Michel
Publication type:
Article
Potential added value of a RT-qPCR method of SOX 11 expression, in the context of a multidisciplinary diagnostic assessment of B cell malignancies.
Published in:
Experimental Hematology & Oncology, 2018, v. 7, p. 1, doi. 10.1186/s40164-018-0097-6
By:
- Magne, Julien;
- Jenvrin, Alizée;
- Chauchet, Adrien;
- Casasnovas, Olivier;
- Donzel, Anne;
- Jego, Laurence;
- Aral, Bernard;
- Guy, Julien;
- Nadal, Nathalie;
- Vernerey, Dewi;
- Callier, Patrick;
- Garnache-Ottou, Francine;
- Ferrand, Christophe
Publication type:
Article

Found: 3

Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.

Potential added value of a RT-qPCR method of SOX 11 expression, in the context of a multidisciplinary diagnostic assessment of B cell malignancies.