MOLECULAR BASES OF CHROMOSOME 22q11 HEMIZYGOSITY IN CONGENITAL HEART DISEASES

Pubblicazioni Scientifiche

• 1997 JOURNAL OF MEDICAL GENETICS

  Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study

• 1996 AMERICAN JOURNAL OF HUMAN GENETICS

  How many breaks do we need to CATCH on 22q11?

• 1998 BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION

  Structure and expression of the human ubiquitin fusion degradation gene (UFD1L)

• 1997 CYTOGENETICS AND CELL GENETICS

  Assignment of the gene for a ubiquitin fusion degradation protein (Ufd1l) mouse chromosome 16B1-B4, syntenic with the Tuple 1 gene

• 1997 HUMAN MOLECULAR GENETICS

  UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome