Isolated isochromosomes i(X)(p10) and idic(X)(q13) are associated with myeloid malignancies and dysplastic features
Dominique Penther, Pascaline Etancelin, Daniel Lusina, Audrey Bidet et autres
4 citationsAmerican Journal of Hematology
Francine Mugneret
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180Publications signalées
6240Citations signalées
0Affiliations récentes
Domaines associés
Acute Myeloid Leukemia ResearchGenomic variations and chromosomal abnormalitiesChronic Lymphocytic Leukemia ResearchAcute Lymphoblastic Leukemia researchLymphoma Diagnosis and Treatment
Publications récentes
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?
Salima El Chehadeh, Renaud Touraine, Fabienne Prieur, William Reardon et autres
55 citationsClinical Genetics
NUP98 is rearranged in 3.8% of pediatric AML forming a clinical and molecular homogenous group with a poor prognosis
Stéphanie Struski, Stéphanie Lagarde, Pierre Bories, C. Puiseux et autres
133 citationsLeukemia
Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30‐year French, retrospective, multicentre study
Nicolas Gruchy, Eléonore Blondeel, Nathalie Le Meur, Géraldine Joly‐Hélas et autres
52 citationsPrenatal Diagnosis
Genetic differences between paediatric and adult Burkitt lymphomas
Violaine Havelange, Xavier Pepermans, Geneviève Ameye, Ivan Théate et autres
28 citationsBritish Journal of Haematology
Genetic alterations in MYC-rearranged aggressive B-cell lymphomas:
Havelange, Xavier Pepermans, Geneviève Ameye, Ivan Théate et autres
0 citationsAbstract book
A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability
Anne‐Laure Mosca‐Boidron, Lucie Gueneau, Guillaume Huguet, Alice Goldenberg et autres
69 citationsEuropean Journal of Human Genetics
Pediatric Burkitt lymphomas (BL) differ from adult BL by less frequent ID3 mutations
Violaine Havelange, Xavier Pepermans, Geneviève Ameye, Ivan Théate et autres
0 citationsDigital Access to Libraries
Value of Cytogenetic Abnormalities in Adult Patients with Philadelphia Chromosome (Ph)-Negative Acute Lymphoblastic Leukemia (ALL) Treated in the Pediatric-Inspired Trials from the Group for Research on Adult ALL (GRAALL)
Mårina Lafage‐Pochitaloff, Laurence Baranger, Mathilde Hunault, Wendy Cuccuini et autres
2 citationsBlood
Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures
Julien Thévenon, Nicole Monnier, Patrick Callier, Françoise Michel et autres
8 citationsAmerican Journal of Medical Genetics Part A
Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases
Nicolas Gruchy, François Vialard, Eléonore Blondeel, Nathalie Le Meur et autres
30 citationsPrenatal Diagnosis
Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling
Patrick Callier, Pierre Calvel, Armine Matevossian, Periklis Makrythanasis et autres
77 citationsPLoS Genetics
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