المؤلفون: Maryam Taghdiri, Atie Kashef, Golemaryam Abbassi, Azadeh Moshtagh, Neda Sadatian, Majid Fardaei, Kimia Najafi, Roxana Kariminejad

المصدر: Clinical Case Reports, Vol 7, Iss 6, Pp 1149-1153 (2019)

مصطلحات موضوعية: cerebellar ataxia, cerebellar atrophy, deletion of GRID2, developmental delay, oligo array CGH, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2050-0904

URL الوصول: https://doaj.org/article/43618e758e3d42cb93b887e02caf4695

المؤلفون: Ariana Kariminejad, Siavash Ghaderi‐Sohi, Soheila Gholami, Kimia Najafi, Roxana Kariminejad, Raoul C. M. Hennekam

المساهمون: General Paediatrics, APH - Quality of Care

المصدر: American journal of medical genetics. Part A, 191(2), 370-377. Wiley-Liss Inc.

مصطلحات موضوعية: 5p13 microduplication syndrome, Genetics, familial, oligo-array CGH, reduced penetrance, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e8c974fa9377f260fb8cf5413891bc7
https://pure.amc.nl/en/publications/5p13-microduplication-in-a-malformed-fetus-and-his-unaffected-father(f9a4bc9c-790a-41c9-9c1b-878be48d5cff).html

المؤلفون: Atie Kashef, Azadeh Moshtagh, Majid Fardaei, Roxana Kariminejad, Neda Sadatian, Kimia Najafi, Golemaryam Abbassi, Maryam Taghdiri

المصدر: Clinical Case Reports, Vol 7, Iss 6, Pp 1149-1153 (2019)
Clinical Case Reports

مصطلحات موضوعية: Pathology, medicine.medical_specialty, oligo array CGH, lcsh:Medicine, Case Report, Nystagmus, Case Reports, 030204 cardiovascular system & hematology, Gene product, 03 medical and health sciences, 0302 clinical medicine, cerebellar atrophy, Medicine, Gene, lcsh:R5-920, Cerebellar ataxia, business.industry, lcsh:R, Glutamate receptor, General Medicine, developmental delay, 030220 oncology & carcinogenesis, Cerebellar atrophy, cerebellar ataxia, medicine.symptom, business, lcsh:Medicine (General), deletion of GRID2, GRID2, Ionotropic effect

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1df375b83813cd5db050deef1c3141ea
https://doaj.org/article/43618e758e3d42cb93b887e02caf4695

المؤلفون: Frigerio, Simona, Disciglio, Vittoria, Manoukian, Siranoush, Peissel, Bernard, Della Torre, Gabriella, Maurichi, Andrea, Collini, Paola, Pasini, Barbara, Gotti, Giacomo, Ferrari, Andrea, Rivoltini, Licia, Massimino, Maura, Rodolfo, Monica

مصطلحات موضوعية: Melanoma-astrocytoma syndrome, 9p21.3 deletion, CDKN2A, CDKN2BAS, MLPA, Oligo array-CGH

Relation: http://www.biomedcentral.com/1471-2350/15/59

الاتاحة: http://www.biomedcentral.com/1471-2350/15/59

المؤلفون: Mencarelli, M. A., Katzaki, E., Papa, F. T., Sampieri, K., Caselli, R., Uliana, V., Pollazzon, M., Canitano, R., Mostardini, R., Grosso, S., Longo, I., Ariani, F., Meloni, I., Hayek, J., Balestri, P., Mari, F., Renieri, A.

المساهمون: Mencarelli, M. A., Katzaki, E., Papa, F. T., Sampieri, K., Caselli, R., Uliana, V., Pollazzon, M., Canitano, R., Mostardini, R., Grosso, S., Longo, I., Ariani, F., Meloni, I., Hayek, J., Balestri, P., Mari, F., Renieri, A.

مصطلحات موضوعية: Oligo array-CGH, Inherited rearrangement, Mental retardation

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/18657637; info:eu-repo/semantics/altIdentifier/wos/WOS:000260241700002; volume:51; issue:5; firstpage:409; lastpage:416; numberofpages:8; journal:EUROPEAN JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11365/1000730; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-50549090966

الاتاحة: http://hdl.handle.net/11365/1000730
https://doi.org/10.1016/j.ejmg.2008.06.003

المؤلفون: Eleni Katzaki, Josef Hayek, Francesca Ariani, Katia Sampieri, Salvatore Grosso, Marzia Pollazzon, Paolo Balestri, Ilaria Meloni, Vera Uliana, Rossella Caselli, Francesca Mari, Maria Antonietta Mencarelli, Roberto Canitano, Alessandra Renieri, Rosa Mostardini, Filomena Tiziana Papa, Ilaria Longo

مصطلحات موضوعية: Adult, Male, Proband, Heterozygote, Adolescent, Biology, Oligo array-CGH, Inherited rearrangements, Mental retardation, Gene Duplication, Intellectual Disability, Gene duplication, Genetics, medicine, Humans, Allele, Child, Gene, Alleles, Genetics (clinical), Nucleic Acid Hybridization, Chromosome, Karyotype, General Medicine, medicine.disease, Xq28, Developmental disorder, Phenotype, Child, Preschool, Karyotyping, Female, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::132ae30d6996b6d94117cb657415a55f
http://hdl.handle.net/11365/1000730

المؤلفون: Paola Collini, Siranoush Manoukian, Licia Rivoltini, Vittoria Disciglio, Simona Frigerio, Bernard Peissel, Monica Rodolfo, Giacomo Gotti, Barbara Pasini, Andrea Maurichi, Gabriella Della Torre, Andrea Ferrari, Maura Massimino

المصدر: BMC Medical Genetics

مصطلحات موضوعية: Male, Adolescent, Genotype, 9p21.3 deletion, Biopsy, Nervous System Neoplasms, Monozygotic twin, Case Report, Biology, Astrocytoma, CDKN2A, medicine, Genetics, Humans, Genetics(clinical), Copy-number variation, Multiplex ligation-dependent probe amplification, Child, neoplasms, Melanoma, Genetics (clinical), Alleles, Germ-Line Mutation, Oligo array-CGH, Sequence Deletion, Comparative Genomic Hybridization, 9p deletion, Cancer, CDKN2BAS, medicine.disease, Melanoma-astrocytoma syndrome, MLPA, Cancer research, melanoma, CDKN2A mutations, Female, Chromosome Deletion, Chromosomes, Human, Pair 9, Comparative genomic hybridization, Anaplastic astrocytoma, Microsatellite Repeats

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b813f1f69bed860a1b0aaf335d665347
http://europepmc.org/articles/PMC4036080