COMPARATIVE GENOTYPE-PHENTYPE STUDY IN DELETED NF1 PATIENTS
- 2 Anni 1998/2000
- 41.317€ Totale Fondi
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Pubblicazioni Scientifiche
- 2002 HUMAN GENETICS
Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region
- 2001 HUMAN GENETICS
Identification of duplicated genes in 17q11.2 using FISH on stretched chromosomes and DNA fibers
- 2001 CHROMOSOME RESEARCH
FISH with locus-specific probes on stretched chromosomes: A useful tool for genome organization studies
- 2000 AMERICAN JOURNAL OF HUMAN GENETICS
NF1 microdeletion syndrome: Refined FISH characterization of sporadic and familial deletions with locus-specific probes
- 1999 MOLECULAR AND CELLULAR PROBES
Mapping of human WHN gene in a 17q11.2 YAC contig and identification of an intragenic STR
- 1999 MOLECULAR AND CELLULAR PROBES
Distribution and high frequency of novel alleles at NF1 polymorphic markers in the Italian population
- 2000 AMERICAN JOURNAL OF MEDICAL GENETICS
Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype
