Search results for: Isabella Ceccherini
Items from 61 to 61 out of 61 results
Strategies for the Identification of Intron–Exon Boundaries and Point Mutations: The Example of theRETProto-Oncogene
For any given gene, the identification of exon boundaries and the corresponding flanking intron sequences is the essential prerequisite for asking interesting questions related to its structural organization, spanning from the study of its evolution to the molecular mechanisms underlying possible alternative splicing. In addition, this type of knowledge allows us to carry out mutation screenings for...
Add recipient
Filter options
Publication date
-
Last 3 years
(3)
Date range setting
Set the date range to filter the displayed results. You can set a starting date, ending date or both. You can enter the dates manually or choose them from the calendar.
From:To: - Set your own date range
Content availability
Keywords
- PHOX2B (10)
- CONGENITAL CENTRAL HYPOVENTILATION SYNDROME (6)
- HIRSCHSPRUNG DISEASE (6)
- NEUROBLASTOMA (5)
- ALEXANDER DISEASE (3)
- CURCUMIN (3)
- AUTOPHAGY (2)
- CCHS (2)
- GENETIC COUNSELING (2)
- GFAP (2)
- LEUKOENCEPHALOPATHY (2)
- POLYALANINE EXPANSION (2)
- POLYALANINE EXPANSIONS (2)
- RET (2)
- RET PROTO-ONCOGENE (2)
- PHOX2B (1)
- TNFRSF1A GENE (1)
- 17-AAG (1)
- 3′UTR REGULATORY ELEMENTS (1)
- 5-HTT (1)
- ACTG2 GENE (1)
- ADENOSINE DEAMINASE 2 (1)
- AGANGLIONOSIS (1)
- AGGREGATION (1)
- ALLELE‐SPECIFIC EXPRESSION (1)
- ANAKINRA (1)
- ANIMAL MODEL (1)
- ANS DYSREGULATION (1)
- APOPTOSIS (1)
- AP‐1 (1)
- ASAM (1)
- ASEPTIC MENINGITIS (1)
- ASSOCIATION STUDY (1)
- AUTOIMMUNE DISEASES (1)
- AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (1)
- B CELL (1)
- CANAKINUMAB (1)
- CANDIDATE GENES AND REGIONS (1)
- CAPILLARY ELECTROPHORESIS (1)
- CAPILLARY ELECTROPHORESIS OF FLUORESCENT AMPLIMERS (1)
- CAPS (1)
- CASPASES (1)
- CEFTRIAXONE (1)
- CELLULAR TOXICITY (1)
- CHROMATIN IMMUNOPRECIPITATION (1)
- CHRONIC INTESTINAL PSEUDO‐OBSTRUCTION (CIPO) (1)
- COLCHICINE (1)
- COMPARATIVE GENOMIC HYBRIDIZATION (1)
- CONGENITAL CENTRAL HYPOVENTILATION SYNDROME (CCHS) (1)
- COPY NUMBER VARIATIONS (1)
- CUSTOM ARRAY (1)
- DE NOVO MUTATIONS (1)
- DESOGESTREL (1)
- DISEASE MODELS (1)
- DISEASE RECURRENCE (1)
- DNA BINDING (1)
- DOMINANT-NEGATIVE (1)
- DOMINANT‐NEGATIVE (1)
- DRUG SCREENING (1)
- DRUG TREATMENT (1)
- DRUGS ANALYSIS (1)
- E3 UBIQUITIN LIGASE (1)
- EMBRYOLOGY (1)
- ENDOTHELIN RECEPTOR B (EDNRB) (1)
- ENS (1)
- ENTERIC NERVOUS SYSTEM (1)
- ENTERIC NEUROPATHY (1)
- EUROFEVER (1)
- EXPRESSION STUDIES (1)
- FAMILIAL MEDITERRANEAN FEVER (1)
- FAMILIAL NEUROBLASTOMA (1)
- FEV (1)
- FMF (1)
- FOLLICULAR HELPER T CELLS (1)
- FRAMESHIFT MUTATIONS (1)
- FUNCTIONAL ASSAYS (1)
- GAIN‐OF‐FUNCTION (1)
- GASTROINTESTINAL TRACT (1)
- GELDANAMYCIN (1)
- GENE EXPRESSION (1)
- GENE EXPRESSION REGULATION (1)
- GENE-REPORTER ASSAY (1)
- GENETIC ANALYSIS (1)
- GENETIC PREDISPOSITION (1)
- GENETICS (1)
- GENOTYPE-PHENOTYPE ASSOCIATIONS (1)
- GFAP PROMOTER (1)
- GLIAL FIBRILLARY ACIDIC PROTEIN (1)
- GWAS (1)
- HEARING LOSS (1)
- HEAT SHOCK PROTEINS (1)
- HEREDITARY RECURRENT FEVERS (1)
- HIRSCHPRUNG DISEASE (1)
- HIRSCHSPRUNG'S DISEASE (1)
- HISTONE ACETYLATION (1)
- HISTONE DEACETYLASE (1)
- HYPOGAMMAGLOBULINEMIA (1)
- HYPOGANGLIONOSIS (1)
- IMMUNE‐DYSREGULATION (1)
- IMMUNODEFICIENCY (1)
- more
Data set
Journal
- Experimental Cell Research (4)
- The American Journal of Human Genetics (4)
- Clinical Genetics (3)
- Human Mutation (3)
- Journal of Molecular Medicine (3)
- American Journal of Hematology (2)
- Developmental Biology (2)
- European Journal of Paediatric Neurology (2)
- FEBS Letters (2)
- Gastroenterology (2)
- International Journal of Cancer (2)
- Neurobiology of Disease (2)
- Orphanet Journal of Rare Diseases (2)
- Pediatric Rheumatology (2)
- Annals of Human Genetics (1)
- BBA - Gene Regulatory Mechanisms (1)
- BMC Proceedings (1)
- Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease (1)
- British Journal of Haematology (1)
- Cancer Letters (1)
- European Journal of Immunology (1)
- Genome Biology (1)
- Genomics (1)
- International Journal of Biochemistry and Cell Biology (1)
- Italian Journal of Pediatrics (1)
- Journal of Cellular Physiology (1)
- Journal of Hepatology (1)
- Journal of Neuroinflammation (1)
- Journal of Neurology (1)
- Journal of Pediatric Surgery (1)
- Methods (1)
- Neurological Sciences (1)
- Pediatric Allergy and Immunology (1)
- Pediatric Pulmonology (1)
- Progress in Neuropsychopharmacology & Biological Psychiatry (1)
- Respiratory Physiology & Neurobiology (1)
- The Journal of Molecular Diagnostics (1)
- The Journal of Pediatrics (1)
- The Lancet Neurology (1)
- Trends in Genetics (1)
- more