-
1
المؤلفون: Michele Falco, Angelo Gloria, S. Amata, Lucia Grillo, Maria Piccione, Angela Spalletta, Maurizio Sturnio, Marco Fichera, Vincenzo Antona, Ornella Galesi, Lucia Castiglia, Girolamo Aurelio Vitello, Michele Salemi, Mirella Vinci
المساهمون: Vinci, M., Falco, M., Castiglia, L., Grillo, L., Spalletta, A., Sturnio, M., Galesi, O., Salemi, M., Gloria, A., Amata, S., Piccione, M., Antona, V., Vitello, G., Fichera, M.
المصدر: Genes & Genomics. 38:1159-1164
مصطلحات موضوعية: 0301 basic medicine, Genetics, CRASH syndrome, Hydrocephalu, Sequence analysis, Spastic paraplegia, MASA syndrome, L1-disease, Biology, Corpus callosum, medicine.disease, Biochemistry, Human genetics, Hydrocephalus, 03 medical and health sciences, 030104 developmental biology, Intellectual disability, medicine, Adducted thumb, Differential diagnosis, L1 syndrome, Molecular Biology
-
2
المؤلفون: Daniela Di Benedetto, Emanuela Avola, Ornella Galesi, Carmela Scuderi, Mariangela Lo Giudice, Sebastiano Bianca, Antonino Alberti, Mirella Vinci, Lucia Grillo, Sebastiano A. Musumeci, Marco Fichera, Angela Spalletta, Corrado Romano, Daniela Luciano, Serafino Buono
المصدر: American Journal of Medical Genetics Part A. 164:1923-1930
مصطلحات موضوعية: Adult, Male, Adolescent, Cell Cycle Proteins, Trisomy, X-Linked Inhibitor of Apoptosis Protein, Locus (genetics), Chromosome Breakpoints, Young Adult, Chromosome Duplication, Intellectual disability, Genetics, medicine, Humans, GRIA3, Child, Gene, Genetic Association Studies, Sex Chromosome Aberrations, Genetics (clinical), Aged, Chromosomes, Human, X, Comparative Genomic Hybridization, biology, Brain, Chromosome Mapping, Facies, Antigens, Nuclear, Exons, Syndrome, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Phenotype, Pedigree, XIAP, Child, Preschool, biology.protein, Female, Tandem exon duplication, Comparative genomic hybridization
-
3
المؤلفون: Nabor Potenza, Marco Fichera, Corrado Romano, S. Amata, Lucia Grillo, Angela Spalletta, Donatella Greco, Emanuela Avola, Daniela Di Benedetto, Daniela Luciano, Rosa Pettinato, Lucia Castiglia
المصدر: Gene. 534:435-439
مصطلحات موضوعية: Male, Genetics, Microcephaly, Chromosomes, Human, Pair 11, Fibroblast Growth Factor 3, Fibroblast Growth Factor 4, Gene Dosage, Chromosome, General Medicine, Biology, medicine.disease, Gene dosage, Craniosynostosis, Craniosynostoses, Risk Factors, Intellectual Disability, Gene duplication, medicine, OMIM : Online Mendelian Inheritance in Man, Humans, Multiplex ligation-dependent probe amplification, Risk factor, Child
-
4
المؤلفون: S. Amata, Corrado Romano, Concetta Barone, Michele Falco, Marco Fichera, Angela Spalletta, Santina Reitano, G. Belfiore, M. Bottitta, Lucia Grillo
المصدر: European Journal of Medical Genetics. 53:113-116
مصطلحات موضوعية: Nucleocytoplasmic Transport Proteins, Muscle Hypotonia, Biology, Short stature, X-inactivation, Intellectual Disability, Gene cluster, Genetics, medicine, Humans, RNA, Messenger, Child, Genetics (clinical), X chromosome, Chromosomes, Human, X, Comparative Genomic Hybridization, Mental Disorders, RNA-Binding Proteins, Chromosome, General Medicine, medicine.disease, Hypotonia, Phenotype, Multigene Family, Autism, Female, Chromosome Deletion, medicine.symptom, Microsatellite Repeats
-
5
المؤلفون: Angela Spalletta, Ornella Galesi, Corrado Romano, D. Di Benedetto, Francesco Calì, Antonino Alberti, P. Schinocca, Marco Fichera, Michele Falco
المصدر: Clinical Genetics. 71:177-182
مصطلحات موضوعية: Chromosomes, Human, Pair 22, Non-allelic homologous recombination, In situ hybridization, Craniofacial Abnormalities, Intellectual Disability, DiGeorge syndrome, Gene duplication, DiGeorge Syndrome, Genetics, medicine, Humans, Genetics (clinical), business.industry, Syndrome, Low copy repeats, Aneuploidy, medicine.disease, Developmental disorder, Phenotype, Tandem Repeat Sequences, Child, Preschool, Chromosomal region, Female, business, Comparative genomic hybridization
-
6
المؤلفون: Angela Ragusa, Angela Spalletta, Ornella Galesi, Lucia Castiglia, Eugenia Borgione, Maurizio Sturnio, Marco Fichera, Maria Angela Lo Giudice
المصدر: Human Mutation. 21:529-534
مصطلحات موضوعية: X-linked Nuclear Protein, Microcephaly, Genetic Linkage, DNA Mutational Analysis, Alpha-thalassemia, Biology, medicine.disease_cause, Sensitivity and Specificity, DNA sequencing, alpha-Thalassemia, Intellectual Disability, Genetics, medicine, Humans, Missense mutation, Abnormalities, Multiple, Gene, Genetics (clinical), ATRX, Chromosomes, Human, X, Mutation, DNA Helicases, Nuclear Proteins, DNA, Syndrome, medicine.disease, Open reading frame, Electrophoresis, Polyacrylamide Gel
-
7
المؤلفون: Marco Fichera, Rita Barone, Angela Spalletta, Mariaclara De Grandi, Valerio Fiore, Ignazio Morana, T Maniscalchi, Salvatore Santo Signorelli, Lucia Grillo, Mirella Vinci, S. Amata, Giovanni Sorge
المصدر: Molecular Cytogenetics
مصطلحات موضوعية: 1q22, CBCL dysregulation syndrome, Duplication, CNV, Intellectual disability, LMNA, Late onset, Case Report, Disease, Biochemistry, LAMTOR2, Inflmmatory disease, Dysewgulation syndrome, SEMA4A, Genetics, Medicine, Genetics(clinical), Copy-number variation, Molecular Biology, Genetics (clinical), 1Q22, Biochemistry, medical, business.industry, Biochemistry (medical), medicine.disease, Human genetics, Inflammatory disease, Mood disorders, Immunology, Molecular Medicine, business, Vasculitis, Anxiety disorder
-
8
المؤلفون: Sebastiano A. Musumeci, M. Bottitta, M. Lo Giudice, Raffaele Ferri, Marco Fichera, Marco Carotenuto, Michele Falco, Giuseppe Calabrese, Maurizio Elia, Angela Spalletta
المساهمون: Elia, M, Falco, M, Ferri, R, Spalletta, A, Bottitta, M, Calabrese, G, Carotenuto, Marco, Musumeci, Sa, LO GIUDICE, M, Fichera, M.
المصدر: Neurology. 71(13)
مصطلحات موضوعية: Myoclonus, Male, medicine.medical_specialty, Pediatrics, Intractable epilepsy, Adolescent, Encephalopathy, CDKL5, Mutation, Missense, Gene mutation, Electroencephalography, Protein Serine-Threonine Kinases, Polymorphism, Single Nucleotide, Epilepsy, Predictive Value of Tests, Internal medicine, Intellectual Disability, Medicine, Missense mutation, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Genetic Testing, Age of Onset, severe encephalopathy, Child, Evoked Potentials, Genetic testing, Brain Diseases, medicine.diagnostic_test, business.industry, Brain Diseases, Metabolic, Inborn, medicine.disease, Endocrinology, Child, Preschool, Mutation, Female, Neurology (clinical), Age of onset, business, Biomarkers
-
9
المؤلفون: Michele Falco, Corrado Romano, Daniela Luciano, Domenico Scionti, Angela Spalletta, Maurizio Sturnio, Marco Fichera, Mariangela Lo Giudice
مصطلحات موضوعية: Genetics, Zinc finger, Mutation, X-linked Nuclear Protein, Biochemistry (medical), Clinical Biochemistry, DNA Helicases, Nuclear Proteins, Syndrome, Biology, Gene mutation, medicine.disease_cause, Molecular biology, Polymerase Chain Reaction, Chromatin remodeling, Open reading frame, alpha-Thalassemia, Intellectual Disability, DNA methylation, medicine, Humans, Gene, ATRX, Chromatography, High Pressure Liquid
-
10
المؤلفون: Corrado Romano, Mariangela Lo Giudice, Angela Spalletta, Angela Ragusa, Marco Fichera, Margherita Silengo
المصدر: Prenatal diagnosis. 21(9)
مصطلحات موضوعية: Adult, Male, Heterozygote, X-linked Nuclear Protein, X Chromosome, RNA Splicing, Population, DNA Mutational Analysis, Prenatal diagnosis, Biology, medicine.disease_cause, Loss of heterozygosity, alpha-Thalassemia, Pregnancy, Intellectual Disability, Prenatal Diagnosis, medicine, Humans, Point Mutation, Genetic Predisposition to Disease, Allele, education, Gene, Genetics (clinical), Genetics, Mutation, education.field_of_study, Haplotype, DNA Helicases, Obstetrics and Gynecology, Nuclear Proteins, Syndrome, Pedigree, Haplotypes, RNA splicing, Female, RNA Splice Sites
-
11
المؤلفون: Dominique Labie, Ryad Tamouza, Turi Lombardo, Flavia Fiorenza, Gino Schilirò, Claudine Lapoumeroulie, Marco Fichera, Angela Ragusa, Angela Spalletta
المصدر: Human genetics. 99(3)
مصطلحات موضوعية: Adolescent, Genotype, Thalassemia, DNA Mutational Analysis, Molecular Sequence Data, Biology, Gene Frequency, alpha-Thalassemia, hemic and lymphatic diseases, Genetics, medicine, Humans, Allele, Child, Allele frequency, Sicily, Genetics (clinical), Genetic diversity, Base Sequence, Breakpoint, Nucleic acid sequence, DNA, medicine.disease, Human genetics, Phenotype, Child, Preschool, Mutation, Gene Deletion
-
12
المؤلفون: Valeria Guarnaccia, M. Lo Giudice, Lucia Castiglia, Emanuela Avola, Angela Spalletta, Michele Falco, Francesco Calì, Marco Fichera, Carmela Scuderi
المصدر: Clinical Genetics. 67:446-447
مصطلحات موضوعية: Genetics, Dosage compensation, business.industry, Gene mutation, Biology, Phenotype, DNA-binding protein, Text mining, DNA Mutational Analysis, Genotype, business, Skewed X-inactivation, Genetics (clinical)
-
13Academic Journal
المؤلفون: Eugenia Borgione, Maurizio Sturnio, Angela Spalletta, Maria Angela Lo Giudice, Lucia Castiglia, Ornella Galesi, Angela Ragusa, Marco Fichera
المصدر: Human Mutation; May2003, Vol. 21 Issue 5, p529-534, 6p
مصطلحات موضوعية: GENETIC mutation, INTELLECTUAL disabilities, GEL electrophoresis, THALASSEMIA, FACIAL abnormalities, GENITAL abnormalities, NUCLEOTIDE sequence, GENETIC polymorphisms
-
14Academic Journal
المؤلفون: Eugenia Borgione, Maurizio Sturnio, Angela Spalletta, Maria Angela Lo Giudice, Lucia Castiglia, Ornella Galesi, Angela Ragusa, Marco Fichera
المصدر: Human Mutation; May2003, Vol. 21 Issue 5, p529-534, 6p
مصطلحات موضوعية: INTELLECTUAL disabilities, GENETIC mutation, GEL electrophoresis, MICROCEPHALY, FACIAL abnormalities, GENITAL abnormalities, NUCLEOTIDE sequence, DIAGNOSIS