يعرض 1 - 5 نتائج من 5 نتيجة بحث عن '"cromosoma 8"', وقت الاستعلام: 0.64s تنقيح النتائج
  1. 1
    Reporte de caso de trisomía 8 en mosaico con diagnóstico prenatal y revisión de la literatura

    المؤلفون: Daniela Valencia, Karen Tatiana García, Darío Alberto Santacruz, Paula Andrea Ramírez, Paula Margarita Hurtado

    المصدر: Salutem Scientia Spiritus, Vol 2, Iss 2 (2016)
    Salutem Scientia Spiritus, Vol 2, Iss 2, Pp 51-57 (2016)

    مصطلحات موضوعية: trisomy, lcsh:R5-920, prenatal diagnosis, abnormal karyotype, chorionic villi sampling, Chromosomes 8, ultrasonography, Cromosoma 8, cytogenetic analysis, ecografía prenatal, mosaicism, aneuploidía, Hybridization in Situ Fluorescent, diagnóstico prenatal, trisomía, amniocentesis, mosaico, aneuploidy, lcsh:Medicine (General), cordocentesis

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6e94329260d82508034a2f0aa2591333Test
    https://doaj.org/article/2da658b693ee4a69bbecea1d3b7a3ff8Test


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  2. 2
    دورية أكاديمية
    Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2. Hum Mutat. 2007 May;28(5):459-68.

    المؤلفون: GIORDA R, CICCONE R, GIMELLI G, PRAMPARO T, BERI S, BONAGLIA MC, GIGLIO S, GENUARDI M, ARGENTE J, ROCCHI M, ZUFFARDI, ORSETTA

    المساهمون: Giorda, R, Ciccone, R, Gimelli, G, Pramparo, T, Beri, S, Bonaglia, Mc, Giglio, S, Genuardi, M, Argente, J, Rocchi, M, Zuffardi, Orsetta

    مصطلحات موضوعية: duplicazioni segmentali, NAHR, cromosoma 8

    وصف الملف: STAMPA

    العلاقة: volume:28; firstpage:459; lastpage:468; journal:HUMAN MUTATION; http://hdl.handle.net/11571/119042Test

    الإتاحة: http://hdl.handle.net/11571/119042Test

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  3. 3
    دورية أكاديمية
    A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected standard karyotype.

    المؤلفون: ZUFFARDI, ORSETTA, PRAMPARO, TIZIANO, Bonaglia Mc, Giorda R, Tenconi R, Pessina M, Pramparo T, Borgatti R.

    المساهمون: Zuffardi, Orsetta, Pramparo, Tiziano, Bonaglia, Mc, Giorda, R, Tenconi, R, Pessina, M, Pramparo, T, Borgatti, R.

    مصطلحات موضوعية: CROMOSOMA 8, RITARDO MENTALE, ARRAY

    وصف الملف: STAMPA

    العلاقة: volume:13; issue:5; firstpage:586; lastpage:91; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11571/23293Test

    الإتاحة: http://hdl.handle.net/11571/23293Test

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  4. 4
    Delezione non contigua di (p23 in un caso di mosaicismo del(8)(p23.1)/psudic(8)(p23.2)

    المؤلفون: ZUFFARDI, ORSETTA, Ciccone R, Mattina T, Pirrotta K, Licata F, Patricelli Mg, Giglio S, Giorda R.

    المساهمون: Zuffardi, Orsetta, Ciccone, R, Mattina, T, Pirrotta, K, Licata, F, Patricelli, Mg, Giglio, S, Giorda, R.

    مصطلحات موضوعية: CROMOSOMA 8, DELEZIONI, MOSAICISMO

    وصف الملف: STAMPA

    العلاقة: ispartofbook:7° Congresso Nazionale SIGU, Pisa, 13-15 ottobre 2004.; http://hdl.handle.net/11571/19414Test

    الإتاحة: http://hdl.handle.net/11571/19414Test

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  5. 5
    Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?

    المؤلفون: Giampiero Palmieri, Anna Maria Nardone, Barbara Testa, D. Minella, Livia Biancone, Antonio Novelli, Francesco Pallone, Marina Frontali, Caterina Tanzarella, Michela Biancolella, Alessandra di Masi, Giuseppe Novelli, Emma Calabrese, Antonio Antoccia, Maria Rosaria D'Apice, Norma Licata, Federica Sangiuolo, Francesca Gullotta

    المصدر: BMC medical genetics (Online) 16 (2015): 1. doi:10.1186/s12881-015-0164-3
    info:cnr-pdr/source/autori:D'Apice M.R.; Novelli A.; di Masi A.; Biancolella M.; Antoccia A.; Gullotta F.; Licata N.; Minella D.; Testa B.; Nardone A.M.; Palmieri G.; Calabrese E.; Biancone L.; Tanzarella C.; Frontali M.; Sangiuolo F.; Novelli G.; Pallone F./titolo:Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: A novel recognizable microdeletion syndrome?/doi:10.1186%2Fs12881-015-0164-3/rivista:BMC medical genetics (Online)/anno:2015/pagina_da:1/pagina_a:/intervallo_pagine:1/volume:16

    مصطلحات موضوعية: Male, Letter, Adolescent, Apraxias, Pseudogene, Developmental Disabilities, Locus (genetics), Hemizygosity, Biology, Young Adult, Malabsorption Syndromes, Genetics, Humans, Child, Preschool, Gene Expression Regulation, Genetic Loci, Multigene Family, Phenotype, Pseudogenes, Sequence Deletion, Genetics(clinical), Copy-number variation, Allele, Child, Preschool, Gene, Genetics (clinical), cromosoma 8, Microdeletion syndrome, Human genetics, dismorfismo, Settore MED/03 - Genetica Medica, microdelezione

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::249e481b7cd6f1707c467ca2dadc13deTest


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