Publications and ressources

PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.

Stanislas Lyonnet, Anna Pelet

Source :

Pmid / DOI:

Molecular Basis for Autosomal-Dominant Renal Fanconi Syndrome Caused by HNF4A.

Matias Simons, Gwenn Le Meur

Source :

Pmid / DOI:

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.

Edor Kabashi

Source :

Pmid / DOI:

Fenfluramine for Treatment-Resistant Seizures in Patients With Dravet Syndrome Receiving Stiripentol-Inclusive Regimens: A Randomized Clinical Trial.

Rima NABBOUT

Source :

Pmid / DOI:

Enhanced Renewal of Erythroid Progenitors in Myelodysplastic Anemia by Peripheral Serotonin.

Francine Côté, Olivier Hermine

Source :

Pmid / DOI:

GATA factor transcriptional activity: Insights from genome-wide binding profiles.

Annarita Miccio , Oriana Romano

Source :

Pmid / DOI:

Biosafety Studies of a Clinically Applicable Lentiviral Vector for the Gene Therapy of Artemis-SCID.

Chantal LAGRESLE-PEYROU, Alain Fischer, Jean-Pierre De Villartay, Marina Cavazzana

Source :

Pmid / DOI:

Gene therapy of hemoglobinopathies: progress and future challenges.

Marina Cavazzana

Source :

Pmid / DOI:

Lentiviral and genome-editing strategies for the treatment of β-hemoglobinopathies.

Marina Cavazzana, Annarita Miccio

Source :

Pmid / DOI:

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Jeanne Amiel, Nancy Vegas, Chris Gordon, Clémantine Dimartino, Stanislas Lyonnet

Source :

Pmid / DOI:

Optimization of CRISPR/Cas9 Delivery to Human Hematopoietic Stem and Progenitor Cells for Therapeutic Genomic Rearrangements.

Annarita Miccio

Source :

Pmid / DOI:

Overall Survival with Ribociclib plus Fulvestrant in Advanced Breast Cancer.

Source :

Pmid / DOI:

Anatomical and functional abnormalities on MRI in kabuki syndrome.

Nathalie Boddaert, Stanislas Lyonnet, Marlène Rio, Monica Zilbovicius , Jennifer Boisgontier, Jean-Marc Tacchella, Hervé Lemaître, Ana Saitovitch, Elza Rechtman, Ludovic Fillon

Source :

Pmid / DOI:

Identification of KISS1R gene mutations in disorders of non-obstructive azoospermia in the northeast population of China.

Source :

Pmid / DOI:

Intracellular offspring released from SFB filaments are flagellated.

Nadine CERF-BENSUSSAN

Source :

Pmid / DOI: