Works matching DE "HUMAN chromosome 21"
Results: 93
Alveolar Capillary Dysplasia in an Infant With Trisomy 21.
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- Pediatric & Developmental Pathology, 2005, v. 8, n. 6, p. 696, doi. 10.1007/s10024-005-2137-6
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- Article
Rapid Prenatal Diagnosis of Numerical Aberrations of Chromosome 21 and 18 by PCR-STR Method.
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- Collegium Antropologicum, 2007, v. 31, n. 3, p. 859
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- Publication type:
- Article
Factors influencing the successful transition of young people with Down syndrome.
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- British Journal of Special Education, 2018, v. 45, n. 4, p. 371, doi. 10.1111/1467-8578.12237
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- Publication type:
- Article
The spatio-temporal and subcellular expression of the candidate Down syndrome gene Mnb/Dyrk1A in the developing mouse brain suggests distinct sequential roles in neuronal development.
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- European Journal of Neuroscience, 2008, v. 27, n. 5, p. 1061, doi. 10.1111/j.1460-9568.2008.06092.x
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- Publication type:
- Article
IDENTICAL MONOCHORIONIC TWINS WITH DOWN SYNDROME AND PATERNAL ORIGIN OF THE EXTRA CHROMOSOME 21.
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- Contributions of Macedonian Academy of Sciences & Arts, 2012, v. 33, n. 2, p. 41
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- Article
Minibrain kinase/dual-specificity tyrosine phosphorylation-regulated kinase 1A (Mnb/Dyrk1A) does not require tyrosine phosphorylation for activity in vitro.
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- FASEB Journal, 2007, v. 21, n. 6, p. A986
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- Article
Tumour angiogenesis is reduced in the Tc1 mouse model of Down’s syndrome.
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- Nature, 2010, v. 465, n. 7299, p. 813, doi. 10.1038/nature09106
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- Article
Down's syndrome: Critical genes in a critical region.
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- Nature, 2006, v. 441, n. 7093, p. 582, doi. 10.1038/441582a
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- Article
Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome Projects.
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- Human Genetics, 2009, v. 125, n. 1, p. 41, doi. 10.1007/s00439-008-0603-8
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- Article
Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains.
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- Human Genetics, 2001, v. 108, n. 2, p. 140, doi. 10.1007/s004390000453
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- Article
Heterotrisomy, a significant contributing factor to ventricular septal defect associated with Down syndrome?
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- Human Genetics, 2000, v. 107, n. 5, p. 476, doi. 10.1007/s004390000395
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- Article
Variation in alphoid DNA size and trisomy 21: a possible cause of nondisjunction.
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- Human Genetics, 2000, v. 106, n. 5, p. 525, doi. 10.1007/s004390050020
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- Publication type:
- Article
Interchromosomal effects for chromosome 21 in carriers of structural chromosome reorganizations determined by fluorescence in situ hybridization on sperm nuclei.
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- Human Genetics, 2000, v. 106, n. 5, p. 500, doi. 10.1007/s004390000295
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- Publication type:
- Article
Radioactive Iodine-131 as a Definitive Treatment in Rare Association of Down Syndrome With Hyperthyroidism: A Case Report and Review of Literature.
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- Indian Journal of Nuclear Medicine, 2017, v. 32, n. 1, p. 19, doi. 10.4103/0972-3919.198458
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- Article
Multi-locus (ML)-FISH is a reliable tool for nondisjunction studies in human oocytes.
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- Cytogenetic & Genome Research, 2003, v. 103, n. 1/2, p. 47, doi. 10.1159/000076287
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- Article
De novo 9-break-event in one chromosome 21 combined with a microdeletion in 21q22.11 in a mentally retarded boy with short stature.
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- Cytogenetic & Genome Research, 2003, v. 103, n. 1/2, p. 14, doi. 10.1159/000076284
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- Publication type:
- Article
Adjustments in the movements of reaching for and grasping objects: the impact of Down Syndrome.
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- Brazilian Journal of Mother & Child Health (BJMCH) / Revista Brasileira de Saude Materno Infantil (RBSMI), 2012, v. 12, n. 2, p. 183
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- Article
It's all in the balance.
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- Nature Reviews Genetics, 2006, v. 7, n. 5, p. 333, doi. 10.1038/nrg1857
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- Article
Of mice and men.
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- Nature Reviews Genetics, 2005, v. 6, n. 11, p. 803, doi. 10.1038/nrg1741
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- Article
MULTIFACTORIAL GENETICS: Wafer thin diversity.
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- Nature Reviews Genetics, 2002, v. 3, n. 1, p. 6, doi. 10.1038/nrg710
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- Article
IN BRIEF.
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- 2001
- Publication type:
- Abstract
Abstracts of papers presented at the 29<sup>th</sup> Genetic Society's Mammalian Genetics and Development Workshop held at the UCL Great Ormond Street Institute of Child Health, University College London on Thursday 29<sup>th</sup> November 2018.
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- Genetics Research, 2019, v. 101, p. N.PAG, doi. 10.1017/S0016672319000016
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- Publication type:
- Article
Lateralidad en síndrome de Down en edad infantil y adulta. Estudio comparativo.
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- Journal of Psychology & Education / Revista de Psicología y Educación, 2011, v. 6, p. 57
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- Publication type:
- Article
Germline transmission of a transferred human chromosome 21 fragment in transchromosomal mice.
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- Journal of Human Genetics, 2001, v. 46, n. 10, p. 600, doi. 10.1007/s100380170028
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- Publication type:
- Article
Mouse-based genetic modeling and analysis of Down syndrome.
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- British Medical Bulletin, 2016, v. 120, n. 1, p. 111, doi. 10.1093/bmb/ldw040
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- Publication type:
- Article
Dissecting Alzheimer disease in Down syndrome using mouse models.
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- Frontiers in Behavioral Neuroscience, 2015, v. 9, p. 1, doi. 10.3389/fnbeh.2015.00268
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- Article
The down syndrome biomarker initiative (DSBI) pilot: proof of concept for deep phenotyping of Alzheimer's disease biomarkers in down syndrome.
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- Frontiers in Behavioral Neuroscience, 2015, v. 9, p. 1, doi. 10.3389/fnbeh.2015.00239
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- Publication type:
- Article
Modifying a reading intervention based on behavioral phenotypes could improve phonological awareness and decoding skills for students with Down syndrome.
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- Evidence-Based Communication Assessment & Intervention, 2015, v. 9, n. 3, p. 101, doi. 10.1080/17489539.2015.1125152
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- Publication type:
- Article
Association Study Based on the Genome Wide Linkage Results Revealed Two Genes on Chromosome 21 in Type 2 Diabetic Subjects in Japanese.
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- Diabetes, 2007, v. 56, p. A645
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- Publication type:
- Article
Evaluation of preferences of women and healthcare professionals in Singapore for implementation of noninvasive prenatal testing for Down syndrome.
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- 2017
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- Publication type:
- journal article
Investigation of chromosome 21 aneuploidies in breast fibroadenomas by fluorescence in situ hybridisation.
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- Clinical & Experimental Medicine, 2006, v. 6, n. 4, p. 166, doi. 10.1007/s10238-006-0112-9
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- Publication type:
- Article
An infant with Down syndrome and retinoblastoma A possible non-fortuitousassociation.
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- Ophthalmic Genetics, 2001, v. 22, n. 2, p. 117, doi. 10.1076/opge.22.2.117.2229
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- Publication type:
- Article
Protein Dynamics Associated with Failed and Rescued Learning in the Ts65Dn Mouse Model of Down Syndrome.
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- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0119491
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- Publication type:
- Article
Linkage Analysis of Extended High-Risk Pedigrees Replicates a Cutaneous Malignant Melanoma Predisposition Locus on Chromosome 9q21.
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- Journal of Investigative Dermatology, 2013, v. 133, n. 1, p. 128, doi. 10.1038/jid.2012.271
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- Article
Coexistence of fusion and concrescence of primary teeth: in a child with Down syndrome.
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- 2017
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- Publication type:
- journal article
Recounting a genetic story.
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- Nature, 2000, v. 405, n. 6784, p. 283, doi. 10.1038/35012790
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- Article
Editorial.
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- 2008
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- Publication type:
- Editorial
Nondisjunction in trisomy 21: Origin and mechanisms.
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- Cytogenetics & Cell Genetics, 2000, v. 91, n. 1-4, p. 199, doi. 10.1159/000056844
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- Article
Report of the seventh international workshop on human chromosome 21 mapping 1997.
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- Cytogenetics & Cell Genetics, 1998, v. 82, n. 1/2, p. 1, doi. 10.1159/000015055
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- Publication type:
- Article
Disease specific characteristics of fetal epigenetic markers for non-invasive prenatal testing of trisomy 21.
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- BMC Medical Genomics, 2014, v. 7, n. 1, p. 1, doi. 10.1186/1755-8794-7-1
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- Publication type:
- Article
High-Resolution Recombination Patterns in a Region of Human Chromosome 21 Measured by Sperm Typing.
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- PLoS Genetics, 2006, v. 2, n. 5, p. e70, doi. 10.1371/journal.pgen.0020070
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- Publication type:
- Article
CpG Island Methylation in Human Lymphocytes Is Highly Correlated with DNA Sequence, Repeats, and Predicted DNA Structure.
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- PLoS Genetics, 2006, v. 2, n. 3, p. e26, doi. 10.1371/journal.pgen.0020026
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- Publication type:
- Article
Understanding the Basis for Down Syndrome<br /> Phenotypes.
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- PLoS Genetics, 2006, v. 2, n. 3, p. e50, doi. 10.1371/journal.pgen.0020050
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- Publication type:
- Article
The role of overexpressed DYRK1A protein in the early onset of neurofibrillary degeneration in Down syndrome.
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- Acta Neuropathologica, 2008, v. 116, n. 4, p. 391, doi. 10.1007/s00401-008-0419-6
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- Publication type:
- Article
Mice containing a human chromosome 21 model behavioral impairment and cardiac anomalies of Down's syndrome.
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- Human Molecular Genetics, 2001, v. 10, n. 11, p. 1163, doi. 10.1093/hmg/10.11.1163
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- Publication type:
- Article
Discovery and genetic localization of Down syndrome cerebellar phenotypes using the Ts65Dn mouse.
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- Human Molecular Genetics, 2000, v. 9, n. 2, p. 195, doi. 10.1093/hmg/9.2.195
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- Publication type:
- Article
What factors regulate HCG production in Down's syndrome pregnancies?
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- Molecular Human Reproduction, 1999, v. 5, n. 10, p. 895, doi. 10.1093/molehr/5.10.895
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- Publication type:
- Article
Disomy rates for chromosomes 14 and 21 studied by fluorescent in-situ hybridization in spermatozoa from three men over 60 years of age.
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- Molecular Human Reproduction, 1998, v. 4, n. 7, doi. 10.1093/molehr/4.7.695
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- Publication type:
- Article
Fully-Automated μMRI Morphometric Phenotyping of the Tc1 Mouse Model of Down Syndrome.
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- PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0162974
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- Publication type:
- Article
Hereditary and Sporadic Forms of Aβ-Cerebrovascular Amyloidosis and Relevant Transgenic Mouse Models.
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- International Journal of Molecular Sciences, 2009, v. 10, n. 4, p. 1872, doi. 10.3390/ijms10041872
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- Publication type:
- Article