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authFullName_s : Francine Mugneret
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Delineation of the 3p14.1p13 Microdeletion Associated With Syndromic Distal Limb Contractures

Julien Thevenon , Nicole Monnier , Patrick Callier , Klaus Dieterich , Michel Francoise et al.
American Journal of Medical Genetics Part A, 2014, pp.3027-34. ⟨10.1002/ajmg.a.36751⟩
Article dans une revue istex inserm-01120832v1
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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 , Céline Henry et al.
European Journal of Human Genetics, 2016, 24 (6), pp.838-43. ⟨10.1038/ejhg.2015.211⟩
Article dans une revue pasteur-01342825v1

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 , Benoit Quilichini et al.
American Journal of Hematology, 2019, 94 (11), ⟨10.1002/ajh.25601⟩
Article dans une revue hal-02352127v1

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 , Pascal Bernard et al.
PLoS Genetics, 2014, 10 (5), pp.e1004340. ⟨10.1371/journal.pgen.1004340⟩
Article dans une revue hal-01063929v1

De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome

Laurence Faivre , Philippe Khau van Kien , Patrick Callier , Nathalie Ruiz-Pallares , Corinne Baudoin et al.
European Journal of Medical Genetics, 2010, 53 (4), pp.208-212. ⟨10.1016/j.ejmg.2010.05.002⟩
Article dans une revue hal-02446647v1

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

Camille Leroy , Émilie Landais , Sylvain Briault , Albert David , Olivier Tassy et al.
European Journal of Human Genetics, 2012, 21 (6), pp.602 - 612. ⟨10.1038/ejhg.2012.230⟩
Article dans une revue hal-01707770v1

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

Salima El Chehadeh , Nathalie Marle , Patrick Callier , Anne-Laure Mosca-Boidron , Francine Mugneret et al.
Clinical Genetics, 2016, ⟨10.1111/cge.12898⟩
Article dans une revue hal-01452730v1