MOLECULAR BASIS OF CHROMOSOME 22q11.2 HAPLOINSUFFICIENCY AND ITS RELATIONSHIP TO THE PHENOTYPIC OUTCOME
- 2 Anni 1998/2000
- 103.291€ Totale Fondi
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Pubblicazioni Scientifiche
- 1999 MOLECULAR GENETICS AND METABOLISM
Isolation and characterization of a novel transcript embedded within HIRA, a gene deleted in DiGeorge syndrome
- 2001 CYTOGENETICS AND CELL GENETICS
Cloning and molecular characterization of three Ubiquitin Fusion Degradation 1 (Ufd1) ortholog genes from Xenopus laevis, Gallus gallus and Drosophila melanogaster
- 1999 AMERICAN JOURNAL OF HUMAN GENETICS
Mutations of UFD1L are not responsible for the majority of cases of DiGeorge syndrome - Velocardiofacial syndrome without deletions within chromosome 22q11
- 2000 MOLECULAR MEDICINE TODAY
Individual haploinsufficient loci and the complex phenotype of DiGeorge syndrome
- 1999 EUROPEAN JOURNAL OF HUMAN GENETICS
Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome
- 1999 TRENDS IN GENETICS
UFD1L and CDC45L - a role in DiGeorge syndrome and related phenotypes?
