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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.
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.
Article dans une revue
pasteur-01342825v1
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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.
Article dans une revue
hal-02352127v1
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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.
Article dans une revue
hal-01063929v1
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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.
Article dans une revue
hal-02446647v1
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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.
Article dans une revue
hal-01707770v1
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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.
Article dans une revue
hal-01452730v1
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