المؤلفون: B. Huber, Sumin Gu, K. Senyi, Barbara Grammatico, Andreas Gal, G. Jojart, A. Veske, G. Del Porto

المصدر: Acta Ophthalmologica Scandinavica. 74:13-16

مصطلحات موضوعية: Male, X Chromosome, Genetic Linkage, Norrie Syndrome, DNA Mutational Analysis, Deafness, Gene mutation, Blindness, Polymerase Chain Reaction, medicine, Humans, Point Mutation, Missense mutation, In patient, Clinical phenotype, X chromosome, Genetics, business.industry, Mental Disorders, DNA, Syndrome, medicine.disease, Phenotype, Pedigree, Ophthalmology, Child, Preschool, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dde74bb870598227f415b87c8de59af5
https://doi.org/10.1111/j.1600-0420.1996.tb00374.x

المؤلفون: Paola Grammatico, F. Cupilari, C. Di Rosa, M. Falcolini, G. Del Porto

المصدر: Clinical Genetics. 41:285-289

مصطلحات موضوعية: Adult, Male, Chromosomes, Human, Pair 21, Chromosomes, Human, Pair 20, Trisomy, Chromosomal translocation, Prominent cheeks, Biology, Bioinformatics, Translocation, Genetic, Familial case, Chromosome analysis, Intellectual Disability, Gene duplication, Genetics, Humans, Genetics (clinical), Syndrome, Middle Aged, Poor language, Phenotype, Pedigree, Motor coordination, Karyotyping, Multigene Family, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58cee1b4126071c3bab1c041d20012ab
https://doi.org/10.1111/j.1399-0004.1992.tb03398.x

المؤلفون: Mario R. Pannarale, L Zompatori, Alessandro Iannaccone, A Sciarra, Renato Forte, G. Del Porto, K. Steindl, Enzo Maria Vingolo

المساهمون: University of Zurich, Forte, R

المصدر: Scopus-Elsevier

مصطلحات موضوعية: Genetics, 2716 Genetics (clinical), medicine.medical_specialty, 10039 Institute of Medical Genetics, business.industry, Eye disease, Autosomal dominant trait, 610 Medicine & health, medicine.disease, Penetrance, Microphthalmia, Microcornea, 1311 Genetics, Ophthalmology, 570 Life sciences, biology, Medicine, Microphthalmos, Abnormality, business, Genetics (clinical), Simple microphthalmos

وصف الملف: 721.full.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a998cca0cd32b6591c755b697542c53f
https://doi.org/10.1136/jmg.31.9.721

المؤلفون: Generoso Bevilacqua, G. Del Porto, Paola Grammatico, G Cipollini, Ma Caligo, L. Varesco

المصدر: Europe PubMed Central

مصطلحات موضوعية: Genetic Markers, Cancer Research, Skin Neoplasms, Cell, Gene Expression, Dermatology, Biology, Cell morphology, Malignancy, Disease-Free Survival, Cell Line, Lymphocytes, Tumor-Infiltrating, Predictive Value of Tests, Gene expression, Tumor Cells, Cultured, medicine, Humans, Genes, Tumor Suppressor, Melanoma, Gene, Monomeric GTP-Binding Proteins, Neoplasm Staging, Chromosome Aberrations, Karyotype, NM23 Nucleoside Diphosphate Kinases, Prognosis, medicine.disease, medicine.anatomical_structure, Oncology, Cell culture, Karyotyping, Nucleoside-Diphosphate Kinase, Cancer research, Follow-Up Studies, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::158a3604f480742e2bd2ffecaee7dfc1
https://doi.org/10.1097/00008390-199406000-00006

المؤلفون: G. Del Porto, Paola Sala, Viviana Gismondi, L. De Benedetti, Paola Grammatico, L. Bertario, Silvano Presciuttini, Ray White, Anna Bafico, L. Varesco, Joanna Groden, Abdelhamid Heouaine, G. B. Ferrara, C. Rossetti, Lisa Spirio

المصدر: Human Genetics. 93:281-286

مصطلحات موضوعية: Adult, Male, Colorectal cancer, Adenomatous polyposis coli, RNA Splicing, Molecular Sequence Data, Biology, Cell Line, Exon, APC gene, Genetics, medicine, Humans, Age of Onset, Allele, Child, Frameshift Mutation, Genetics (clinical), Aged, Splice site mutation, Base Sequence, Autosomal dominant trait, DNA, Exons, Middle Aged, medicine.disease, Exon skipping, Pedigree, Adenomatous Polyposis Coli, biology.protein, Female, Age of onset

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea73797b0d3294b33b30b6fca6a8dc2e
https://doi.org/10.1007/bf00212023

المؤلفون: Susanna Scarpa, M. Nazzaro-Porro, Mauro Picardo, K. Steindl, G. Del Porto, Paola Grammatico

المساهمون: University of Zurich, Del Porto, G

المصدر: Mutation Research/Genetic Toxicology. 300:119-123

مصطلحات موضوعية: Genetic Markers, medicine.medical_specialty, Time Factors, Azelaic acid, 10039 Institute of Medical Genetics, 610 Medicine & health, Biology, Toxicology, Chromosomes, Giemsa stain, 1311 Genetics, Tumor Cells, Cultured, Genetics, medicine, Humans, Dicarboxylic Acids, Melanoma, Cytogenetics, 3005 Toxicology, Karyotype, Biological activity, medicine.disease, In vitro, Cell culture, Karyotyping, Immunology, Cancer research, 570 Life sciences, biology, Cell Division, medicine.drug

وصف الملف: 1-s2.0-0165121893901292-main.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2ead41d30a1b9d9d2c6eae3d5a02a1a
https://doi.org/10.1016/0165-1218(93)90129-2

المؤلفون: M. Giambenedetti, G. Del Porto, M. Nicotra, M.F. Marcaino, Paola Grammatico, S. DeSanctis, Corinna De Matteis Vaccarella, R. Fabi, I.M. Coghi, Elvira D'Alessandro

المصدر: Scopus-Elsevier
Europe PubMed Central

مصطلحات موضوعية: Chromosome Aberrations, Male, Genetics, Abortion, Habitual, education.field_of_study, medicine.medical_specialty, Polymorphism, Genetic, Obstetrics, Rehabilitation, Population, Obstetrics and Gynecology, Chromosome, Biology, medicine.disease, Miscarriage, Recurrent Abortions, Italy, Reproductive Medicine, Pregnancy, Karyotyping, Recurrent abortion, medicine, Humans, Female, education

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7d99b7101188e8f0ae79143351684e8
https://doi.org/10.1093/oxfordjournals.humrep.a138135

المؤلفون: R Boldrini, A Pellegrini, A Sciarra, Pompili A, Alida L.P. Caforio, Elisabetta Zachara, C Bosman, Pier Luigi Prati, G Del Porto, Gian Piero Carboni

المصدر: Heart. 69:129-135

مصطلحات موضوعية: Adult, Cardiomyopathy, Dilated, Male, Proband, Heterozygote, medicine.medical_specialty, Adolescent, Heart disease, Electrocardiography, Internal medicine, Idiopathic dilated cardiomyopathy, medicine, Humans, Family, First-degree relatives, Retrospective Studies, Body surface area, business.industry, Hypertrophic cardiomyopathy, Family aggregation, Dilated cardiomyopathy, Middle Aged, medicine.disease, Pedigree, Surgery, Echocardiography, Cardiology, Female, Cardiology and Cardiovascular Medicine, business, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db429c6d65748636f13f104a8a4fde99
https://doi.org/10.1136/hrt.69.2.129

المؤلفون: GRAMMATICO, Paola, C. Di Rosa, R. Rinaldi, M. Roccella, F. Cupilari, T. Sbezzi, G. Del Porto

المساهمون: Grammatico, Paola, C., Di Rosa, R., Rinaldi, M., Roccella, F., Cupilari, T., Sbezzi, G., Del Porto

مصطلحات موضوعية: karyotype-phenotype correlation, mental retardation, multiple congenital anomalie, partial trisomy 2q

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/9457503; info:eu-repo/semantics/altIdentifier/wos/WOS:000071090500008; volume:8; issue:4; firstpage:327; lastpage:334; numberofpages:8; journal:GENETIC COUNSELING; http://hdl.handle.net/11573/117535; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0031440712; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000071090500008&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396a; http://www.scopus.com/inward/record.url?eid=2-s2.0-0031440712&partnerID=65&md5=fc02fe692c05f6e2d5dd75ed08000c21

الاتاحة: http://hdl.handle.net/11573/117535
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000071090500008&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396a
http://www.scopus.com/inward/record.url?eid=2-s2.0-0031440712&partnerID=65&md5=fc02fe692c05f6e2d5dd75ed08000c21

المؤلفون: S. Costanzi Porrini, R. Gualtieri, G. Del Porto, N. Sulli, A Sciarra, Maria Piane

المصدر: Scopus-Elsevier

مصطلحات موضوعية: Genetic Markers, Genetics, Base Sequence, Molecular Sequence Data, Twins, Population genetics, Twins, Monozygotic, Biology, Zygosity, Variable number tandem repeat, Tandem repeat, HLA Antigens, Genetic marker, Polymorphism (computer science), Blood Group Antigens, Twins, Dizygotic, Humans, Human genome, Restriction fragment length polymorphism, Oligonucleotide Probes, Polymorphism, Restriction Fragment Length, Genetics (clinical), Repetitive Sequences, Nucleic Acid

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::541d25b15d2c59201e99e087b355e7c2
https://doi.org/10.1017/s000156600000369x

المؤلفون: M. Roccella, N. De Felice, F. Roccella, Rossella Rota, Paola Grammatico, Maria Antonietta Blasi, G. Del Porto, Emilio Balestrazzi

المصدر: Cancer Genetics and Cytogenetics. 108:81-83

مصطلحات موضوعية: Genetics, Cancer Research, Tumor suppressor gene, Melanoma, Breakpoint, Locus (genetics), Uvea, Biology, medicine.disease_cause, medicine.disease, eye diseases, medicine.anatomical_structure, Chromosome 3, Gene mapping, Cancer research, medicine, Carcinogenesis, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8662a454670d65e06409c0ce95f51fbc
https://doi.org/10.1016/s0165-4608(98)00114-9

المؤلفون: L. Varesco, V. Gismondi, R. James, M. Robertson, P. Grammatico, J. Groden, L. Casarino, L. De Benedetti, A. Bafico, L. Bertario, P. Sala, R. Sassatelli, G. Biasco, A. Allegretti, H. Aste, S. De Sanctis, C. Rossetti, MT Illeni, A. Sciarra, G. Del Porto, R. White, GB Ferrara, PONZ DE LEON, Maurizio

المساهمون: L., Varesco, V., Gismondi, R., Jame, M., Robertson, P., Grammatico, J., Groden, L., Casarino, L., De Benedetti, A., Bafico, L., Bertario, P., Sala, PONZ DE LEON, Maurizio, R., Sassatelli, G., Biasco, A., Allegretti, H., Aste, S., De Sancti, C., Rossetti, Mt, Illeni, A., Sciarra, G., Del Porto, R., White, Gb, Ferrara

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/8381581; info:eu-repo/semantics/altIdentifier/wos/WOS:A1993KN27500005; volume:52; firstpage:280; lastpage:285; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11380/307976; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0027535407

الاتاحة: http://hdl.handle.net/11380/307976

المؤلفون: Giacinto Marrocco, Silvia Majore, Rosanna Rinaldi, G Storniello, Monica Poscente, Paola Grammatico, G. Del Porto, C. De Bernardo

المصدر: Journal of pediatric surgery. 38(8)

مصطلحات موضوعية: Male, endocrine system, Pathology, medicine.medical_specialty, Gonad, Sex assignment, Disorders of Sex Development, Gonadoblastoma, Scrotum, Testis, medicine, Humans, Disorders of sex development, Sex Chromosome Aberrations, Gynecology, Hypospadias, Chromosomes, Human, Y, urogenital system, business.industry, Mosaicism, Cytogenetics, Infant, General Medicine, Left Testis, medicine.disease, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Cytogenetic Analysis, Gonadal Dysgenesis, Mixed, Surgery, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32b95c0dcb81160cf0f93a97b5c2f6e4
https://pubmed.ncbi.nlm.nih.gov/12891509

المؤلفون: T. Nardo, V. Bastianon, M. Stefanini, L. Chessa, G. Del Porto

المصدر: Annals of the New York Academy of Sciences. 663:423-425

مصطلحات موضوعية: Male, Genetics, DNA Repair, Patient affected, business.industry, DNA repair, General Neuroscience, Bioinformatics, General Biochemistry, Genetics and Molecular Biology, Polyploidy, Neonatal Progeroid Syndrome, Progeria, Text mining, History and Philosophy of Science, Humans, Medicine, Child, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0b265a6061ad27f73e0eaab59b5bb49
https://doi.org/10.1111/j.1749-6632.1992.tb38688.x

المؤلفون: P, Grammatico, S, Majore, G, Marrocco, M, Poscente, C, Mordenti, B, Grammatico, G, Del Porto

المصدر: Genetic counseling (Geneva, Switzerland). 10(4)

مصطلحات موضوعية: Chromosome Aberrations, X Chromosome, Chromosomes, Human, Pair 10, Infant, Genetic Counseling, Trisomy, Monosomy, Phenotype, Chromosomes, Human, Pair 2, Karyotyping, Humans, Abnormalities, Multiple, Female, Chromosome Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::53da244e2466e8bf1faa5f0812dcbee4
https://pubmed.ncbi.nlm.nih.gov/10631922

المؤلفون: P, Grammatico, M, Roccella, C, De Bernardo, F, Roccella, B, Grammatico, R, Rinaldi, G, Del Porto

المصدر: Genetic counseling (Geneva, Switzerland). 9(4)

مصطلحات موضوعية: Craniofacial Abnormalities, Gene Rearrangement, Phenotype, Adolescent, Intellectual Disability, Humans, Female, Chromosomes, Human, Pair 3, Syndrome, Chromosome Deletion, Physical Chromosome Mapping, In Situ Hybridization, Fluorescence, Chromosome Banding

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::3b3ee55b4978c54543ac7e0120125056
https://pubmed.ncbi.nlm.nih.gov/9894162

المؤلفون: M A, Blasi, F, Roccella, E, Balestrazzi, G, Del Porto, N, De Felice, M, Roccella, R, Rota, P, Grammatico

مصطلحات موضوعية: Chromosome Aberrations, 3p13 region, Choroid Neoplasms, Chromosomes, Human, Pair 22, Chromosome Mapping, primary cell culture, uveal melanoma, Middle Aged, Translocation, Genetic, Karyotyping, Humans, Female, Genes, Tumor Suppressor, Chromosomes, Human, Pair 3, Chromosome Deletion, Melanoma

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::1db523b2191c91e0dffe7726813ad794
http://hdl.handle.net/11573/242442

المؤلفون: P, Grammatico, L, Spaccini, C, Di Rosa, F, Cupilari, G, Del Porto

مصطلحات موضوعية: Intellectual Disability, Karyotyping, Humans, Female, Chromosome Deletion, Chromosomes, Human, Pair 4

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e4d727b217d54e0f74c11783cbfdc2d2
http://hdl.handle.net/11573/117534

المؤلفون: M R, Pannarale, B, Grammatico, A, Iannaccone, R, Forte, C, DeBernardo, L, Flagiello, E M, Vingolo, G, Del Porto

المصدر: Ophthalmology. 103(9)

مصطلحات موضوعية: Adult, Male, Rhodopsin, Adolescent, Tryptophan, DNA, Arginine, Polymerase Chain Reaction, Retina, Pedigree, Phenotype, Electroretinography, Humans, Point Mutation, Female, Longitudinal Studies, Visual Fields, Child, Polymorphism, Single-Stranded Conformational, Retinitis Pigmentosa

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::40e99a9896a18bc11daf4a2fc72e6a5c
https://pubmed.ncbi.nlm.nih.gov/8841304

المؤلفون: Renato Forte, Eduardo Rispoli, Enzo Maria Vingolo, G. Del Porto, Alessandro Iannaccone, P. Tanzilli, C. De Bernardo, Mario R. Pannarale, Barbara Grammatico

المصدر: Degenerative Diseases of the Retina ISBN: 9781461357742

مصطلحات موضوعية: medicine.medical_specialty, genetic structures, Chemistry, Retinal, Audiology, Inner plexiform layer, medicine.disease, eye diseases, Amacrine cell, chemistry.chemical_compound, medicine.anatomical_structure, Ophthalmology, Retinitis pigmentosa, Reflex, medicine, sense organs, Scotopic vision, Erg, X-linked recessive inheritance

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fcdf0c16de2afebe1c9835468ec9c2de
https://doi.org/10.1007/978-1-4615-1897-6_41