نتائج البحث - "chromosomal microarrays"

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The role of copy number variation in the clinical phenotype of intellectual disabilityin a retrospective cohort of public health network from Goiás State

المؤلفون: Pereira, Rodrigo Roncato

المساهمون: Cruz, Aparecido Divino da, Silva, Daniela de Melo e

المصدر: Biblioteca Digital de Teses e Dissertações da UFG
Universidade Federal de Goiás (UFG)
instacron:UFG

مصطلحات موضوعية: CNVs, Cariótipo, Deficiência Intelectual, MICROBIOLOGIA APLICADA [MICROBIOLOGIA], Karyotype, Chromosomal Microarrays, Intellectual Disabilities

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3056::8f7ee21e53aaec60e8345d22e55d94bf
http://repositorio.bc.ufg.br/tede/handle/tede/3093

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Dissertation/ Thesis

O Papel da variação do número de cópias genômicas no fenótipo clínico de deficiência intelectual em uma coorte retrospectiva da rede pública de saúde do Estado de Goiás ; The role of copy number variation in the clinical phenotype of intellectual disabilityin a retrospective cohort of public health network from Goiás State

المؤلفون: Pereira, Rodrigo Roncato

المساهمون: Cruz, Aparecido Divino da, Silva, Daniela de Melo e, http://lattes.cnpq.br/7868817504129985

مصطلحات موضوعية: Chromosomal Microarrays, Deficiência Intelectual, CNVs, Cariótipo, Intellectual Disabilities, Karyotype, MICROBIOLOGIA::MICROBIOLOGIA APLICADA

وصف الملف: application/pdf

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Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis. Proc. Natl. Acad. Sci. U.S.A. 109: 14514-14519. Zhang, Z.F., Ruivenkamp, C., Staaf, J., Zhu, H., Barbaro, M., Petillo, D., et al. 2008. Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms. Eur. J. Hum. Genet. 16: 786-792. Zhao, Y., Guo, Y.J., Tomac, A.C., Taylor, N.R., Grinberg, A., Lee, E.J., et al. 1999. Isolated cleft palate in mice with a targeted mutation of the LIM homeobox gene Lhx8. Proc. Nat. Acad. Sci. 96: 15002-15006. Zhao, Y., Marin, O., Hermesz, E., Powell, A., Flames, N., Palkovits, M., et al. 2003. The LIM-homeobox gene Lhx8 is required for the development of many cholinergic neurons in the mouse forebrain. Proc. Nat. Acad. Sci. 100: 9005-9010. Zoua, G., Zhang, J., Li, X.W., He, L., He, G., Duan, T. 2008. Quantitative fluorescent polymerase chain reaction to detect chromosomal anomalies in spontaneous abortion. Int. J. Gynecol. Obstet. 103: 237-240. Recursos da Internet: DECIPHER - Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources - https://decipher.sanger.ac.uk/application/. Acesso em Janeiro de 2014. DGV - Database Of Genomic Variation - http://projects.tcag.ca/variation/. Acesso em Janeiro de 2014. ISCA - The International Standards For Cytogenomic Arrays Consortium - https://www.iscaconsortium.org. Acesso em Janeiro de 2014. RefSeq - NCBI Reference Sequences - http://www.ncbi.nlm.nih.gov/refseq/. Acesso em Janeiro de 2014.; Pereira, Rodrigo Roncato. O Papel da variação do número de cópias genômicas no fenótipo clínico de deficiência intelectual em uma coorte retrospectiva da rede pública de saúde do Estado de Goiás. 2014. 118 f. Tese (Doutorado em Biologia) - Programa de Pós-graduação em Biologia (ICB) - Universidade Federal de Goiás, Goiânia, 2014.; http://repositorio.bc.ufg.br/tede/handle/tede/3093; http://repositorio.bc.ufg.br/handle/ri/9437

الاتاحة: http://repositorio.bc.ufg.br/tede/handle/tede/3093
http://repositorio.bc.ufg.br/handle/ri/9437

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14

Prenatal management of the fetus with isolated congenital diaphragmatic hernia in the era of the TOTAL trial

المؤلفون: Deprest J, Brady P, Nicolaides K, Benachi A, Berg C, Vermeesch J, Gardener G, Gratacós E

المصدر: SEMINARS IN FETAL & NEONATAL MEDICINE
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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مصطلحات موضوعية: Chromosomal microarrays, Congenital diaphragmatic hernia, Exome sequencing, Fetal surgery, Pulmonary hypoplasia, Tracheal occlusion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::81735f9dddf74780588c557133ea0270
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=7157

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