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Broadening of cohesinopathies: Exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype
Ilaria Parenti
,
Cristina Gervasini
,
Jelena Pozojevic
,
Luitgard Graul-Neumann
,
Jacopo Azzollini
et al.
Journal articles
hal-01117251v1
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Hidden Mutations in CdLS - Limitations of Sanger Sequencing in Molecular Diagnostics
Diana Braunholz
,
Carolin Obieglo
,
Ilaria Parenti
,
Jelena Pozojevic
,
Juliane Eckhold
et al.
Journal articles
istex
hal-01064574v1
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Expanding the clinical spectrum of the "HDAC8-phenotype" - Implications for molecular diagnostics, counselling and risk prediction
Ilaria Parenti
,
Cristina Gervasini
,
Jelena Pozojevic
,
Kerstin S. Wendt
,
Erwan Watrin
et al.
Journal articles
istex
hal-01255865v1
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HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.
Matthew A. Deardorff
,
Masashige Bando
,
Ryuichiro Nakato
,
Erwan Watrin
,
Takehiko Itoh
et al.
Journal articles
inserm-00728375v1
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Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes
Ilaria Parenti
,
María E. Teresa-Rodrigo
,
Jelena Pozojevic
,
Sara Ruiz Gil
,
Ingrid Bader
et al.
Journal articles
hal-01478812v1
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