يعرض 1 - 10 نتائج من 27 نتيجة بحث عن '"Pinella Failla"', وقت الاستعلام: 0.86s تنقيح النتائج
  1. 1
    دورية أكاديمية
    UNC5C: Novel Gene Associated with Psychiatric Disorders Impacts Dysregulation of Axon Guidance Pathways

    المؤلفون: Simone Treccarichi, Pinella Failla, Mirella Vinci, Antonino Musumeci, Angelo Gloria, Anna Vasta, Giuseppe Calabrese, Carla Papa, Concetta Federico, Salvatore Saccone, Francesco Calì

    المصدر: Genes, Vol 15, Iss 3, p 306 (2024)

    مصطلحات موضوعية: UNC5C gene, netrin 1/DCC, axon guidance, microtubule dynamics, whole-exome sequencing, Genetics, QH426-470

    وصف الملف: electronic resource

    Relation: https://www.mdpi.com/2073-4425/15/3/306; https://doaj.org/toc/2073-4425

    URL الوصول: https://doaj.org/article/549cbcc8dc444560a96320de4c2d7c44

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  2. 2
    Trait - driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes

    المؤلفون: Martina Miceli, Pinella Failla, Lucia Saccuzzo, Ornella Galesi, Silvestra Amata, Corrado Romano, Maria Clara Bonaglia, Marco Fichera

    مصطلحات موضوعية: Neurodevelopmental delay, Genetics, 2p15p16.1 microdeletion syndrome, Epistasis, Additive effect, Penetrance, Molecular Biology, Biochemistry

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f60b69575748638c897b6e22d07501f9
    https://hdl.handle.net/20.500.11769/550889

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  3. 3
    Novel SPINK5 variants in a patient with Netherton syndrome and intellectual disability. The diagnostic value of trichoscopy

    المؤلفون: Francesco Calì, Maddalena Siragusa, Mirella Vinci, Carmelo Schepis, Pinella Failla

    المصدر: Giornale Italiano di Dermatologia e Venereologia. 155

    مصطلحات موضوعية: medicine.medical_specialty, business.industry, Intellectual disability, MEDLINE, medicine, Netherton syndrome, Dermatology, medicine.disease, business, Value (mathematics), Trichoscopy

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f2c75338a6c43ee9488ae559e9bfe8c5
    https://doi.org/10.23736/s0392-0488.18.05931-x

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  4. 4
    Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy

    المؤلفون: Corrado Romano, Pinella Failla, Lucia Grillo, Donatella Greco, Martina Miceli, Francesco Calì, Eliana Salvo, Marco Fichera, Ornella Galesi, Lucia Saccuzzo, Carmelo Amato, Maurizio Elia, Lucia Castiglia

    مصطلحات موضوعية: Male, Microcephaly, Chromosomal Proteins, Non-Histone, Biology, Gene mutation, Bioinformatics, Quadriplegia, Short stature, Chromatin remodeling, 03 medical and health sciences, Genetics, medicine, Missense mutation, Humans, Child, Exome, Genetics (clinical), 030304 developmental biology, 0303 health sciences, 030305 genetics & heredity, Genetic Diseases, Inborn, Infant, Newborn, Infant, DNA Methylation, medicine.disease, Chromatin Assembly and Disassembly, Human genetics, Actins, Chromatin, Pedigree, DNA-Binding Proteins, Neurodevelopmental Disorders, Child, Preschool, Cerebellar atrophy, Female, medicine.symptom, Spasms, Infantile

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::017063d166355bec3d450fed11273559
    http://hdl.handle.net/20.500.11769/359701

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  5. 5
    MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability

    المؤلفون: Alessandra Renieri, Corrado Romano, Detelina Grozeva, Francesca Mari, Lucy Raymond, Maria Antonietta Mencarelli, Francesca Ariani, Chiara Di Marco, Ilaria Meloni, Marco Fichera, Laura Bianciardi, Ottavia Spiga, Pinella Failla

    المصدر: Journal of human genetics

    مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Methyl-CpG-Binding Protein 2, Protein domain, Mutation, Missense, Rett syndrome, Biology, medicine.disease_cause, Bioinformatics, Article, MECP2, 03 medical and health sciences, Protein Domains, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Missense mutation, Child, Genetics (clinical), Mutation, Genetic Diseases, X-Linked, medicine.disease, Phenotype, 030104 developmental biology, Statistical genetics, Child, Preschool, Medical genetics, Female

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d90fa707272a456a4a2ab7700352ba6
    https://doi.org/10.1038/jhg.2015.118

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  6. 6
    Recurrent duplications of 17q12 associated with variable phenotypes

    المؤلفون: Elke Van Oudenhove, Nicolette S. den Hollander, Tomas W Fitzgerald, Luis F. Escobar, Andrew G. L. Douglas, Alessandra Renieri, Charles E. Schwartz, Heather C Mefford, Nigel P. Carter, Serena Piazzolla, Maria Kibaek, Jennelle C. Hodge, Arnaud Vanlander, Pinella Failla, Amy Lawson Yuen, John A. Crolla, Bert Callewaert, Mark C. Hannibal, Veronica Bizzarri, Marco Fichera, Elyse Mitchell, Corrado Romano, Evan E. Eichler, Maria Rita Digilio, Sandra Janssens, Cindy Skinner, Diana Rajan, Emanuela Avola, Antonino Alberti, Anne Slavotinek, Maria Antonietta Mencarelli, Susanne Kjaegaard

    المصدر: Mitchell, E, Douglas, A, Kjaegaard, S, Callewaert, B, Vanlander, A, Janssens, S, Yuen, A L, Skinner, C, Failla, P, Alberti, A, Avola, E, Fichera, M, Kibæk, M, Digilio, M C, Hannibal, M C, den Hollander, N S, Bizzarri, V, Renieri, A, Mencarelli, M A, Fitzgerald, T, Piazzolla, S, van Oudenhove, E, Romano, C, Schwartz, C, Eichler, E E, Slavotinek, A, Escobar, L, Rajan, D, Crolla, J, Carter, N, Hodge, J C & Mefford, H C 2015, ' Recurrent duplications of 17q12 associated with variable phenotypes ', American Journal of Medical Genetics. Part A, vol. 167, no. 12, pp. 3038-3045 . https://doi.org/10.1002/ajmg.a.37351

    مصطلحات موضوعية: Male, Microcephaly, Adolescent, DNA Copy Number Variations, Duplication, Developmental Disabilities, CNV, Biology, Bioinformatics, Microphthalmia, Pyloric stenosis, Young Adult, Genotype phenotype, Cataracts, Gene duplication, Chromosome Duplication, medicine, Genetics, Journal Article, Humans, Abnormalities, Multiple, Child, Genetics (clinical), Coloboma, Infant, medicine.disease, Phenotype, Tracheomalacia, Hypospadias, Child, Preschool, Face, Female

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::343bd2fbf9c688d99c076df37c57f538
    https://portal.findresearcher.sdu.dk/da/publications/8e11dfd2-922c-405b-bf3e-3bd41ce6ac7f

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  7. 7
    Disruptive CHD8 mutations define a subtype of autism early in development

    المؤلفون: Pinella Failla, Christelle Golzio, Nicholas Katsanis, Ed S. Lein, Kali Witherspoon, Heather C Mefford, Marco Fichera, Jill A. Rosenfeld, David G. Amaral, Jennifer Gerdts, Hilde Peeters, Janneke H M Schuurs-Hoeijmakers, Raphael Bernier, Carl Baker, Ludmila Francescatto, Serafino Buono, Corrado Romano, Brian J. O'Roak, Julia Rankin, Matthew R. Pawlus, Trygve E. Bakken, Bradley P. Coe, Anneke T. Vulto-van Silfhout, Bert B.A. de Vries, Randall T. Moon, Evan E. Eichler, Bo Xiong, Lisenka E.L.M. Vissers, Osnat Penn, Holly A.F. Stessman, Antonino Alberti, Jay Shendure, Paolo Bosco, Jean Steyaert

    المصدر: Cell, pp. 263-76
    Cell, 263-76
    STARTPAGE=263;ENDPAGE=76;ISSN=0092-8674;TITLE=Cell

    مصطلحات موضوعية: Head size, Male, Adolescent, Molecular Sequence Data, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], medicine.disease_cause, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, 0302 clinical medicine, mental disorders, medicine, Animals, Humans, Megalencephaly, Amino Acid Sequence, 10. No inequality, Human phenotype, Child, Gene, Zebrafish, 030304 developmental biology, Genetics, 0303 health sciences, Mutation, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], biology, Biochemistry, Genetics and Molecular Biology(all), Brain, Zebrafish Proteins, medicine.disease, biology.organism_classification, Macaca mulatta, DNA-Binding Proteins, Gastrointestinal Tract, Autism spectrum disorder, Child Development Disorders, Pervasive, Child, Preschool, Autism, Female, Sequence Alignment, 030217 neurology & neurosurgery, Transcription Factors

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0699737dab20e22ea8f442361cd8d217
    https://doi.org/10.1016/j.cell.2014.06.017

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  8. 8
    Failure of fluoxetine to modify the skin-picking behaviour of Prader-Willi syndrome

    المؤلفون: R. Palazzo, Maddalena Siragusa, Corrado Romano, Carmelo Schepis, Pinella Failla

    المصدر: Australasian Journal of Dermatology. 39:57-60

    مصطلحات موضوعية: Fluoxetine, medicine.medical_specialty, business.industry, MEDLINE, Medicine, Skin-picking, Dermatology, business, medicine.drug

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::10cbeebfd40af671df3bfa2e031cc339
    https://doi.org/10.1111/j.1440-0960.1998.tb01247.x

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  9. 9
    Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing

    المؤلفون: Kornelia Neveling, Marjolein H. Willemsen, Donatella Greco, Lisenka E.L.M. Vissers, Ilse I.G.M. van de Vondervoort, Michèl A.A.P. Willemsen, Joep de Ligt, Joris A. Veltman, Rolph Pfundt, Christian Gilissen, Anneke T. Vulto-van Silfhout, Janneke H M Schuurs-Hoeijmakers, Irene M. Janssen, Aurelio Vitello, Bregje W.M. van Bon, Hans van Bokhoven, Bert B.A. de Vries, Tjitske Kleefstra, Arjan P.M. de Brouwer, Pinella Failla, Han G. Brunner, Gausiya Hira, Ornella Galesi, Marie T. Greally, Marco Fichera, Jayne Y. Hehir-Kwa, Ernie M.H.F. Bongers, Marisol del Rosario, Charlotte W. Ockeloen, Corrado Romano, Santina Reitano

    المصدر: Journal of Medical Genetics, 50, 12, pp. 802-11
    Journal of Medical Genetics, 50, 802-11

    مصطلحات موضوعية: Male, medicine.medical_specialty, Candidate gene, Genetics and epigenetic pathways of disease [NCMLS 6], DCN MP - Plasticity and memory, DNA Mutational Analysis, Population, DCN PAC - Perception action and control, Biology, medicine.disease_cause, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], Genomic disorders and inherited multi-system disorders [IGMD 3], Intellectual Disability, Molecular genetics, Genetics, medicine, Humans, Exome, Family, DCN PAC - Perception action and control NCEBP 9 - Mental health, education, Gene, Genetics (clinical), Exome sequencing, Renal disorder [IGMD 9], education.field_of_study, Mutation, Effective primary care and public health [NCEBP 7], Pedigree, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], Female, Human genome, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]

    وصف الملف: application/pdf

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77acf7dfbe5009b2033d606f23a9f5cb
    http://hdl.handle.net/20.500.11769/57471

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  10. 10
    Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi syndrome

    المؤلفون: Valeria Chiavetta, Alda Ragalmuto, Carmelo Schepis, Corrado Romano, Francesco Cali, Cataldo Scavuzzo, Giuseppa Ruggeri, Pietro Schinocca, Pinella Failla, Valentino Romano

    المساهمون: Calì,F, Failla,P, Chiavetta,V, Ragalmuto,A, Ruggeri,G, Schinocca,P, Schepis,C, Romano,V, Romano,C

    مصطلحات موضوعية: Heterozygote, CREB, Exon, Settore BIO/13 - Biologia Applicata, Genetics, medicine, Humans, Multiplex, Multiplex ligation-dependent probe amplification, Genetic Testing, CREB-binding protein, Molecular Biology, Gene, Rubinstein-Taybi Syndrome, Rubinstein–Taybi syndrome, biology, Multiplex ligation-dependent probe amplification, Comparative multiplex dosage analysis, CREB-binding protein, Rubinstein-Taybi syndrome, Heterozygote advantage, General Medicine, medicine.disease, Molecular biology, CREB-Binding Protein, Child, Preschool, biology.protein, Female, Multiplex Polymerase Chain Reaction, Gene Deletion

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb2f5d79f8291b6d5915b1a0bce6052e
    http://hdl.handle.net/10447/98862

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