COMPARATIVE GENOTYPE-PHENTYPE STUDY IN DELETED NF1 PATIENTS
- 2 Anni 1998/2000
- 41.317€ Totale Fondi
Descrizione non disponibile
Pubblicazioni Scientifiche
- 2000-01-01 AMERICAN JOURNAL OF HUMAN GENETICS
NF1 microdeletion syndrome:: Refined FISH characterization of sporadic and familial deletions with locus-specific probes
- 2000-12-18 AMERICAN JOURNAL OF MEDICAL GENETICS
Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype
- 2001-01-01 CHROMOSOME RESEARCH
FISH with locus-specific probes on stretched chromosomes: A useful tool for genome organization studies
- 2001-07-01 HUMAN GENETICS
Identification of duplicated genes in 17q11.2 using FISH on stretched chromosomes and DNA fibers
- 2002-04-01 HUMAN GENETICS
Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region
- 1999-06-01 MOLECULAR AND CELLULAR PROBES
Mapping of human WHN gene in a 17q11.2 YAC contig and identification of an intragenic STR
- 1999-12-01 MOLECULAR AND CELLULAR PROBES
Distribution and high frequency of novel alleles at NF1 polymorphic markers in the Italian population
