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Apport du séquençage nouvelle génération pour le diagnostic moléculaire des hypogonadismes hypogonadotropes congénitaux
by
Bouligand, J
,
Francou, B
,
Imanci, D
,
Nadal, F
,
Young, J
,
Guiochon-Mantel, A
Published in
Annales d'endocrinologie
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Syndrome de Kallmann (SK) familial causé par une mutation frameshift du gène codant pour le récepteur de type D de l’interleukine 17
by
Bouligand, J., Dr
,
Cartes, A., Dr
,
Francou, B., Dr
,
Salenave, S., Dr
,
Imanci, D., Dr
,
Habib, C
,
Proust, A., Dr
,
Guiochon-Mantel, A., Pr
,
Young, J., Pr
Published in
Annales d'endocrinologie
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Forte prévalence de l’oligogénisme dans les hypogonadismes hypogonadotropes congénitaux (HHC)/Kallmann (KS) par séquençage nouvelle génération (NGS)
by
Francou, B., Dr
,
Imanci, D
,
Cottin, A
,
Proust, A
,
Habib, C
,
Bouvattier, C., Dr
,
Brue, T., Pr
,
Guiochon-Mantel, A., Pr
,
Bouligand, J., Dr
,
Young, J., Pr
Published in
Annales d'endocrinologie
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Découverte par exome ciblé d’une nouvelle mutation homozygote de MCM8 chez des femmes avec insuffisance ovarienne prématurée membres d’une famille consanguine. Caractérisation fonc...
by
Bouali, N.
,
Francou, B.
,
Bouligand, J.
,
Imanci, D.
,
Dimessi, S.
,
Tosca, L.
,
Zaouali, M.
,
Mougou, S.
,
Young, J.
,
Saad, A.
,
Guiochon-Mantel, A.
Published in
Annales d'endocrinologie
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Topic: AS04-MDS Biology and Pathogenesis/AS04h-Immune deregulation/inflammation: CXCL8 SECRETED BY IMMATURE GRANULOCYTES INHIBITS WILD-TYPE STEM AND PROGENITOR CELL EXPANSION IN CH...
by
Deschamps, P.
,
Gosseye, A.
,
Morabito, M.
,
Imanci, A.
,
Marchand, V.
,
Patnaik, M.
,
Badaoui, B.
,
Braun, T.
,
Berthon, C.
,
Willekens, C.
,
Itzykson, R.
,
Wagner-Ballon, O.
,
Thépot, S.
,
Fenaux, P.
,
Porteu, F.
,
Droin, N.
,
Laplane, L.
,
Solary, E.
,
Selimoglu-Buet, D.
Published in
Leukemia research
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Topic: AS04-MDS Biology and Pathogenesis/AS04f-Gene expression profiling: CMML PATIENTS WITH LOW EXPRESSION OF TP53 POINT TO AML TRANSFORMATION
by
Imanci, A.
,
Laplane, L.
,
Selimoglu-Buet, D.
,
Morabito, M.
,
Francillette, M.
,
Bouchra, B.
,
Wagner-Ballon, O.
,
Thépot, S.
,
Porteu, F.
,
Fenaux, P.
,
Figueroa, M.
,
Itzykson, R.
,
Solary, E.
,
Droin, N.
Published in
Leukemia research
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