نتائج البحث

1

دورية أكاديمية

Chromosomal anomalies at 1q, 3, 16q, and mutations of SIX1 and DROSHA genes underlie Wilms tumor recurrences

المؤلفون: Spreafico, Filippo, Ciceri, Sara, Gamba, Beatrice, Torri, Federica, Terenziani, Monica, Collini, Paola, Macciardi, Fabio, Radice, Paolo, Perotti, Daniela

المصدر: Oncotarget. 7(8)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Cancer, Clinical Research, Rare Diseases, Human Genome, Genetics, Biomarkers, Tumor, Child, Child, Preschool, Chromosome Aberrations, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 16, Chromosomes, Human, Pair 3, Female, High-Throughput Nucleotide Sequencing, Homeodomain Proteins, Humans, Infant, Kidney Neoplasms, Male, Mutation, Neoplasm Recurrence, Local, Neoplasm Staging, Prognosis, RNA, Messenger, Real-Time Polymerase Chain Reaction, Reverse Transcriptase Polymerase Chain Reaction, Ribonuclease III, Survival Rate, Wilms Tumor, Wilms tumor, recurrence, chromosomal anomalies, SIX1, miRNA processor genes, Oncology and carcinogenesis

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5rq8s395Test

View record in eScholarship

2

دورية أكاديمية

Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature

المؤلفون: Lengyel, Anna, Pinti, Éva, Pikó, Henriett, Jávorszky, Eszter, David, Dezső, Tihanyi, Mariann, Gönczi, Éva, Kiss, Eszter, Tóth, Zsuzsa, Tory, Kálmán, Fekete, György, Haltrich, Irén

العلاقة: https://www.sciencedirect.com/science/article/pii/S1769721220300112?via%3DihubTest; Eur J Med Genet. 2020 Oct;63(10):104027. doi:10.1016/j.ejmg.2020.104027. Epub 2020 Aug 3.; http://hdl.handle.net/10400.18/7650Test

الإتاحة: https://doi.org/10.1016/j.ejmg.2020.104027Test
http://hdl.handle.net/10400.18/7650Test

View record in BASE

3

Parental balanced chromosomal rearrangement leading to major genomic imbalance and an autosomal trisomy resulting in consecutive pregnancy loss: a case report

المؤلفون: Seema Thakur, Abhipsa V. F. Debnath, Anushka Shrivastava, Sonal R Bakshi, Tara Nath

المصدر: Journal of Genetics. 100

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b18bd706a6a6c49a819d1f5e32ba846Test
https://doi.org/10.1007/s12041-021-01304-3Test

4

Next-Generation Sequencing-Based Pre-Implantation Genetic Testing for Aneuploidy (PGT-A): First Report from Saudi Arabia

المؤلفون: Meshael Alharbi, Shahad Haddad, Majid Alfadhel, Abeer Al Tuwaijri, Maha Al-Ghuraibi, Muhammad Umair, Yusra Alyafee, Sahar Al-Showaier, Qamre Alam, Hayat Ahmed Alrabiah

المصدر: Genes, Vol 12, Iss 461, p 461 (2021)
Genes
Volume 12
Issue 4

مصطلحات موضوعية: Adult, 0301 basic medicine, Infertility, medicine.medical_specialty, lcsh:QH426-470, medicine.medical_treatment, Saudi Arabia, Aneuploidy, Fertilization in Vitro, Article, Paternal Age, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Genetics, medicine, Humans, Embryo Implantation, Genetic Testing, aneuploidy, Genetics (clinical), Aged, Genetic testing, Chromosome Aberrations, euploidy, 030219 obstetrics & reproductive medicine, In vitro fertilisation, medicine.diagnostic_test, Obstetrics, business.industry, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, Blastomere, Middle Aged, Embryo Transfer, medicine.disease, Embryo transfer, lcsh:Genetics, 030104 developmental biology, Female, preimplantation genetic testing for aneuploidy (PGTA), Abnormality, business, Chromosomes, Human, Pair 16, embryos, Maternal Age

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48288b658ad3bd775c073f331f562336Test
https://www.mdpi.com/2073-4425/12/4/461Test

5

دورية أكاديمية

Common variant at 16p11.2 conferring risk of psychosis

المؤلفون: Steinberg, S, de Jong, S, Mattheisen, M, Costas, J, Demontis, D, Jamain, S, Pietiläinen, OPH, Lin, K, Papiol, S, Huttenlocher, J, Sigurdsson, E, Vassos, E, Giegling, I, Breuer, R, Fraser, G, Walker, N, Melle, I, Djurovic, S, Agartz, I, Tuulio-Henriksson, A, Suvisaari, J, Lönnqvist, J, Paunio, T, Olsen, L, Hansen, T, Ingason, A, Pirinen, M, Strengman, E, Hougaard, DM, Ørntoft, T, Didriksen, M, Hollegaard, MV, Nordentoft, M, Abramova, L, Kaleda, V, Arrojo, M, Sanjuán, J, Arango, C, Etain, B, Bellivier, F, Méary, A, Schürhoff, F, Szoke, A, Ribolsi, M, Magni, V, Siracusano, A, Sperling, S, Rossner, M, Christiansen, C, Kiemeney, LA, Franke, B, van den Berg, LH, Veldink, J, Curran, S, Bolton, P, Poot, M, Staal, W, Rehnstrom, K, Kilpinen, H, Freitag, CM, Meyer, J, Magnusson, P, Saemundsen, E, Martsenkovsky, I, Bikshaieva, I, Martsenkovska, I, Vashchenko, O, Raleva, M, Paketchieva, K, Stefanovski, B, Durmishi, N, Pejovic Milovancevic, M, Lecic Tosevski, D, Silagadze, T, Naneishvili, N, Mikeladze, N, Surguladze, S, Vincent, JB, Farmer, A, Mitchell, PB, Wright, A, Schofield, PR, Fullerton, JM, Montgomery, GW, Martin, NG, Rubino, IA, van Winkel, R, Kenis, G, De Hert, M, Réthelyi, JM, Bitter, I, Terenius, L, Jönsson, EG, Bakker, S, van Os, J, Jablensky, A, Leboyer, M, Bramon, E, Powell, J, Murray, R, Corvin, A, Gill, M, Morris, D, O'Neill, FA, Kendler, K, Riley, B, Craddock, N, Owen, MJ, O'Donovan, MC, Thorsteinsdottir, U, Kong, A, Ehrenreich, H, Carracedo, A, Golimbet, V, Andreassen, OA, Børglum, AD, Mors, O, Mortensen, PB, Werge, T, Ophoff, RA, Nöthen, MM, Rietschel, M, Cichon, S, Ruggeri, M, Tosato, S, Palotie, A, St Clair, D, Rujescu, D, Collier, DA, Stefansson, H, Stefansson, K, Schofield, Peter

المصدر: urn:ISSN:1359-4184 ; urn:ISSN:1476-5578 ; Molecular Psychiatry, 19, 1, 108-114

العلاقة: http://purl.org/au-research/grants/nhmrc/APP1037196Test; http://hdl.handle.net/1959.4/unsworks_40807Test; https://doi.org/10.1038/mp.2012.157Test

الإتاحة: https://doi.org/10.1038/mp.2012.157Test
http://hdl.handle.net/1959.4/unsworks_40807Test

View record in BASE

6

Two Separate Cases: Complex Chromosomal Abnormality Involving Three Chromosomes and Small Supernumerary Marker Chromosome in Patients with Impaired Reproductive Function

المؤلفون: Konstantin E. Orishchenko, Tatyana A. Gayner, Tatyana V. Karamysheva, Nikolay B. Rubtsov, Vladimir V Muzyka

المصدر: Genes
Volume 11
Issue 12
Genes, Vol 11, Iss 1511, p 1511 (2020)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Abortion, Habitual, lcsh:QH426-470, Genetic counseling, reciprocal translocation, Abnormal Karyotype, Chromosomal translocation, Genetic Counseling, Chromosomal rearrangement, 030105 genetics & heredity, Biology, Article, Chromosome Painting, 03 medical and health sciences, Chromosome regions, Gene Duplication, Genetics, medicine, Humans, small supernumerary marker chromosomes (sSMC) in humans, Small supernumerary marker chromosome, Genetics (clinical), In Situ Hybridization, Fluorescence, Infertility, Male, Metaphase, Chromosome Aberrations, Chromosome, Karyotype, medicine.disease, in vitro fertilization (IVF), microdissection, lcsh:Genetics, Mutagenesis, Insertional, 030104 developmental biology, Chromosome abnormality, Chromosomes, Human, Pair 5, Female, Chromosomes, Human, Pair 3, DNA Probes, Infertility, Female, Chromosomes, Human, Pair 16

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::220c79c402f0d424127c18aa11b75b23Test
http://europepmc.org/articles/PMC7766715Test

7

[The value of noninvasive prenatal screening for the detection of fetal chromosome 16 aneuploidy]

المؤلفون: Ting, Wang, Jing, Wu, Jiexia, Yang, Jian, Lu, Li, Guo, Li, Du, Aihua, Yin

المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 37(2)

مصطلحات موضوعية: Chromosome Aberrations, Fetus, Pregnancy, Noninvasive Prenatal Testing, Prenatal Diagnosis, Humans, Chromosome Disorders, Female, Aneuploidy, Chromosomes, Human, Pair 16

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::486b8ed00d032c521b3d31153dcac475Test
https://pubmed.ncbi.nlm.nih.gov/32034738Test

8

Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature

المؤلفون: Mariann Tihanyi, Anna Lengyel, György Fekete, Irén Haltrich, Dezső David, Kálmán Tory, Zsuzsa Tóth, Eva Pinti, Eszter Jávorszky, Éva Gönczi, Eszter Kiss, Henriett Pikó

المصدر: European journal of medical genetics. 63(10)

مصطلحات موضوعية: 0301 basic medicine, Male, Tomography Scanners, X-Ray Computed, DNA Copy Number Variations, Autism Spectrum Disorder, Developmental Disabilities, 030105 genetics & heredity, 03 medical and health sciences, Chromosome 16, Segmental Duplications, Genomic, Intellectual Disability, Genotype, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, Copy-number variation, Obesity, Child, Genetics (clinical), Genetic Association Studies, In Situ Hybridization, Fluorescence, Segmental duplication, Sequence Deletion, Chromosome Aberrations, Hungary, medicine.diagnostic_test, business.industry, Chromosome, Brain, Infant, General Medicine, medicine.disease, Microarray Analysis, Magnetic Resonance Imaging, Doenças Genéticas, 030104 developmental biology, Gene Ontology, Phenotype, Child, Preschool, Autism, Female, business, Chromosomes, Human, Pair 16, Fluorescence in situ hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afaad85c76e326d8e35fa8606599cb6bTest
https://pubmed.ncbi.nlm.nih.gov/32758661Test

9

Inter-Cell and Inter-Chromosome Variability of 5-Hydroxymethylcytosine Patterns in Noncultured Human Embryonic and Extraembryonic Cells

المؤلفون: Anastasiia V. Petrovskaia-Kaminskaia, Andrei V. Tikhonov, V. S. Baranov, Polina M. Navodnikova, Mikhail I. Krapivin, Olga A. Efimova, Olga E. Talantova, Anna A. Pendina, Oleg S. Glotov, Vladimir V. Kopat

المصدر: Cytogenetic and Genome Research. 156:150-157

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fec8244a865472598302f6ae1333adcTest
https://doi.org/10.1159/000493906Test

10

Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3

المصدر: Genes
Volume 12
Issue 8

مصطلحات موضوعية: Male, speech delay, Pediatrics, Psychomotor agitation, psychomotor hyperactivity, ANKRD11 gene, 16q24.3, dysmorphic syndrome, hoarse voice, Child, Genetics (clinical), Exome sequencing, wide, delayed closing fontanels, Comparative Genomic Hybridization, KBG syndrome, Phenotype, Child, Preschool, Speech delay, Female, medicine.symptom, Adult, medicine.medical_specialty, Adolescent, Dwarfism, Chromosomal rearrangement, Short stature, Article, Young Adult, Intellectual Disability, Exome Sequencing, Genetics, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Gene, Chromosome Aberrations, Bone Diseases, Developmental, Tooth Abnormalities, business.industry, Facies, Infant, medicine.disease, short stature, Repressor Proteins, Hoarse voice, Macrodontia (tooth), Mutation, business, Chromosomes, Human, Pair 16

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4a352b3600445c44096fe65361d5f84Test
https://doi.org/10.3390/genes12081257Test

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