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Plerixafor enables the safe, rapid, efficient mobilization of haematopoietic stem cells in sickle cell disease patients after exchange transfusion. (Comment on the article by. Hsieh MM and John F. Tisdale JF: Haematologica. 2018 Feb22.doi:10.3324/haemato

Lagresle-Peyrou C. Lefrère F., Magrin E., Ribeil JA., Romano O., Weber L., Magnani A., Sadek H., Plantier C., Gabrion A., Ternaux B., Félix T., Couzin C., Stanislas A., Tréluyer JM., Lamhaut L., Joseph L., Delville M., Miccio A.*, André-Schmutz I.*, Cavazzana M.* (*These authors contributed equally.)

Haematologica. 2018 pii:haematol.2017.184788.doi: 10.3324/haematol.2017.184788.


Induction of fetal hemoglobin synthesis in human erythroblasts by CRISPR/Cas9-mediated editing of the β-globin locus. (Comment on the article by Montbleau KE and Sankaran VG: Blood. 2018 Apr 26;131(17):1884-1885. doi: 10.1182/blood-2018-03-839787)

Antoniani C. Meneghini V., Lattanzi A., Felix T., Romano O., Magrin E., Weber L., Pavani G., Nakamura Y., Cradick T.J., Lundberg A.S., Amendola M., El-Nemer W., Cavazzana M., Mavilio F. and Miccio A.

Blood. 2018 pii: blood-2017-10-811505. doi: 10.1182/blood-2017-10-811505. F1000Prime recommended.


Gene replacement therapy for hemoglobinopathies: clinical benefit and challenges for widespread utilization.

Cavazzana M. Miccio A., Andre-Schmutz I., and Mavilio F.

Cell and Gene Therapy Insights 2018 653-664. doi: 10.18609/cgti.2018.063


 Effect of Cell-Free DNA Screening vs Direct Invasive Diagnosis on Miscarriage Rates in Women With Pregnancies at High Risk of Trisomy 21: A Randomized Clinical Trial.

Malan V, Bussières L, Winer N, et al.

JAMA. 2018 2018 Aug 14;320(6):557-565.


 Prenatal factors associated with neonatal survival of infants with congenital chylothorax.

Dorsi M, Giuseppi A, Lesage F, et al.

J Perinatol. 2018 2018 Jan;38(1):31-34.


 Fetal brain imaging following laser surgery in twin-to-twin surgery.

Stirnemann J, Chalouhi G, Essaoui M, et al.

BJOG. 2018 2018 Aug;125(9):1186-1191.


A randomized, placebo-controlled, phase 3 study of masitinib for treatment of severely symptomatic indolent systemic mastocytosis.

Lortholary O. Marie Olivia Chandesris, Cristina Bulai Livideanu, Carle Paul, Gérard Guillet, Ewa Jassem, Marek Niedoszytko, Stéphane Barete, Srdan Verstovsek, Clive Grattan, Gandhi Damaj, Daniéle Canioni, Sylvie Fraitag, Ludoovic Lhermitte, Sophie Georgin Lavialle, Laurent Frenzel, Lawrence B. Afrin, Katia Hanssens, Julie Agopian, Raphael Gaillard, Jean-Pierre Kinet, Christian Auclair, Colin Mansfield, Alain Moussy, Patrice Dubreuil, Olivier Hermine.

Lancet. 2017 389(10069):612-620


CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy.

Poirier K, Hubert L, Viot G, Rio M, Billuart P, Besmond C, Bienvenu T.

Hum Mutat. 2017 38(8):932-941.


Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.

Xu M Xu M, Xie YA, Abouzeid H, Gordon CT, Fiorentino A, Sun Z, Lehman A, Osman IS, Dharmat R, Riveiro-Alvarez R, Bapst-Wicht L, Babino D, Arno G, Busetto V, Zhao L, Li H, Lopez-Martinez MA, Azevedo LF, Hubert L, Pontikos N, Eblimit A, Lorda-Sanchez I, Kheir V, Plagnol V, Oufadem M, Soens ZT, Yang L, Bole-Feysot C, Pfundt R, Allaman-Pillet N, Nitschké P, Cheetham ME, Lyonnet S, Agrawal SA, Li H, Pinton G, Michaelides M, Besmond C, Li Y, Yuan Z, von Lintig J, Webster AR, Le Hir H, Stoilov P; UK Inherited Retinal Dystrophy Consortium, Amiel J, Hardcastle AJ, Ayuso C, Sui R, Chen R, Allikmets R, Schorderet DF.

Am J Hum Genet. 2017 100(4):592-604.


Mutations in BOREALIN cause thyroid dysgenesis.

Carré A. Carré A, Stoupa A, Kariyawasam D, Gueriouz M, Ramond C, Monus T, Léger J, Gaujoux S, Sebag F, Glaser N, Zenaty D, Nitschke P, Bole-Feysot C, Hubert L, Lyonnet S, Scharfmann R, Munnich A, Besmond C, Taylor W, Polak M.

Hum Mol Genet. 2017 26(3):599-610.


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