Works about HUMAN chromosome 21

Results: 93

Clusters of alpha satellite on human chromosome 21 are dispersed far onto the short arm and lack ancient layers.

Published in:

Chromosome Research, 2016, v. 24, n. 3, p. 421, doi. 10.1007/s10577-016-9530-z

By:

Ziccardi, William;
Zhao, Chongjian;
Shepelev, Valery;
Uralsky, Lev;
Alexandrov, Ivan;
Andreeva, Tatyana;
Rogaev, Evgeny;
Bun, Christopher;
Miller, Emily;
Putonti, Catherine;
Doering, Jeffrey

Publication type:

Article

Abstracts of papers presented at the 29th Genetic Society's Mammalian Genetics and Development Workshop held at the UCL Great Ormond Street Institute of Child Health, University College London on Thursday 29th November 2018.

Published in:

Genetics Research, 2019, v. 101, p. N.PAG, doi. 10.1017/S0016672319000016

By:

Greene, Nicholas D. E.;
Copp, Andrew J.;
Andoniadou, Cynthia L.;
Cannavo, Claudia;
Cleverley, K.;
Tosh, J. L.;
Noy, S.;
Lana-Elola, E.;
Tybulewicz, V.;
Fisher, E. M. C.;
Wiseman, F. K.;
Calderon, Lesly;
Weiss, Felix D;
Carroll, Thomas;
Irvine, Elaine E.;
Dharmalingam, Gopuraja;
Tossell, Kyoko;
De Paola, Vincenzo;
Whilding, Chad;
Ungless, Mark A.

Publication type:

Article

Lateralidad en síndrome de Down en edad infantil y adulta. Estudio comparativo.

Published in:

Journal of Psychology & Education / Revista de Psicología y Educación, 2011, v. 6, p. 57

By:

García-Alba, Javier;
Antonio Portellano, José

Publication type:

Article

Screening of human chromosome 21 genes in the dorsolateral prefrontal cortex of individuals with Down syndrome.

Published in:

Molecular Medicine Reports, 2015, v. 11, n. 2, p. 1235, doi. 10.3892/mmr.2014.2855

By:

XIANG-DONG KONG;
NING LIU;
XUE-JU XU;
ZHEN-HUA ZHAO;
MIAO JIANG

Publication type:

Article

The Use of Mouse Models for Understanding the Biology of Down Syndrome and Aging.

Published in:

Current Gerontology & Geratrics Research, 2012, p. 1, doi. 10.1155/2012/717315

By:

Vacano, Guido N.;
Duval, Nathan;
Patterson, David

Publication type:

Article

Alveolar Capillary Dysplasia in an Infant With Trisomy 21.

Published in:

Pediatric & Developmental Pathology, 2005, v. 8, n. 6, p. 696, doi. 10.1007/s10024-005-2137-6

By:

Shehata, Bahig M.;
Abramowsky, Carlos R.

Publication type:

Article

Comparative Genomic Analysis of Human and Chimpanzee Indicates a Key Role for Indels in Primate Evolution.

Published in:

Journal of Molecular Evolution, 2006, v. 63, n. 5, p. 682, doi. 10.1007/s00239-006-0045-7

By:

Wetterbom, Anna;
Sevov, Marie;
Cavelier, Lucia;
Bergström, Tomas

Publication type:

Article

Investigation of chromosome 21 aneuploidies in breast fibroadenomas by fluorescence in situ hybridisation.

Published in:

Clinical & Experimental Medicine, 2006, v. 6, n. 4, p. 166, doi. 10.1007/s10238-006-0112-9

By:

Soares Leite, D.;
de Lima, P. D. Lima;
Ferreira Leal, M.;
Suchi Chen, E.;
Casartelli, C.;
de Arruda Cardoso Smith, M.;
Rodríguez Burbano, R.

Publication type:

Article

Down's syndrome: Critical genes in a critical region.

Published in:

Nature, 2006, v. 441, n. 7093, p. 582, doi. 10.1038/441582a

By:

Epstein, Charles J.

Publication type:

Article

Germline transmission of a transferred human chromosome 21 fragment in transchromosomal mice.

Published in:

Journal of Human Genetics, 2001, v. 46, n. 10, p. 600, doi. 10.1007/s100380170028

By:

Kazuki, Y.;
Shinohara, T.;
Tomizuka, K.;
Katoh, M.;
Ohguma, A.;
Ishida, I.;
Oshimura, M.

Publication type:

Article

Factors influencing the successful transition of young people with Down syndrome.

Published in:

British Journal of Special Education, 2018, v. 45, n. 4, p. 371, doi. 10.1111/1467-8578.12237

By:

Mullan, Patricia;
Prendeville, Paula;
Kinsella, William

Publication type:

Article

DOWN SYNDROME- DIAGNOSIS AND GUIDELINES OF DENTAL AND ORTHODONTIC MANAGEMENT.

Published in:

Guident, 2013, v. 6, n. 4, p. 40

By:

Prakash, Amit;
Raghuwanshi, Babita;
Hameed, Abdul

Publication type:

Article

Mouse-based genetic modeling and analysis of Down syndrome.

Published in:

British Medical Bulletin, 2016, v. 120, n. 1, p. 111, doi. 10.1093/bmb/ldw040

By:

Zhuo Xing;
Yichen Li;
Pao, Annie;
Bennett, Abigail S.;
Tycko, Benjamin;
Mobley, William C.;
Yu, Y. Eugene

Publication type:

Article

Evaluation of preferences of women and healthcare professionals in Singapore for implementation of noninvasive prenatal testing for Down syndrome.

Published in:

2017

By:

Barrett, Angela Natalie;
Advani, Henna Vishal;
Chitty, Lyn S.;
Lin Lin Su;
Biswas, Arijit;
Wei Ching Tan;
Hill, Melissa;
Choolani, Mahesh;
Su, Lin Lin;
Tan, Wei Ching

Publication type:

journal article

High-Resolution Recombination Patterns in a Region of Human Chromosome 21 Measured by Sperm Typing.

Published in:

PLoS Genetics, 2006, v. 2, n. 5, p. e70, doi. 10.1371/journal.pgen.0020070

By:

Tiemann-Boege, Irene;
Calabrese, Peter;
Cochran, David M.;
Sokol, Rebecca;
Arnheim, Norman

Publication type:

Article

CpG Island Methylation in Human Lymphocytes Is Highly Correlated with DNA Sequence, Repeats, and Predicted DNA Structure.

Published in:

PLoS Genetics, 2006, v. 2, n. 3, p. e26, doi. 10.1371/journal.pgen.0020026

By:

Bock, Christoph;
Paulsen, Martina;
Tierling, Sascha;
Mikeska, Thomas;
Lengauer, Thomas;
Walter, Jörn

Publication type:

Article

Understanding the Basis for Down Syndrome Phenotypes.

Published in:

PLoS Genetics, 2006, v. 2, n. 3, p. e50, doi. 10.1371/journal.pgen.0020050

By:

Roper, Randall J.;
Reeves, Roger H.

Publication type:

Article

The evolution of de novo human‐specific microRNA genes on chromosome 21.

Published in:

American Journal of Biological Anthropology, 2022, v. 178, n. 2, p. 223, doi. 10.1002/ajpa.24504

By:

Johnson, Hunter R.;
Blandino, Jessica A.;
Mercado, Beatriz C.;
Galván, José A.;
Higgins, William J.;
Lents, Nathan H.

Publication type:

Article

Rapid Prenatal Diagnosis of Numerical Aberrations of Chromosome 21 and 18 by PCR-STR Method.

Published in:

Collegium Antropologicum, 2007, v. 31, n. 3, p. 859

By:

Crkvenac-Gornik, Kristina;
Grubić, Zorana;
Štingl, Katarina;
Mužinić, Dubravka;
Brkljačić-Kerhin, Vesna;
Begović, Davor

Publication type:

Article

Nondisjunction in trisomy 21: Origin and mechanisms.

Published in:

Cytogenetics & Cell Genetics, 2000, v. 91, n. 1-4, p. 199, doi. 10.1159/000056844

By:

Petersen, M. B.;
Mikkelsen, M.

Publication type:

Article

Specificity of Learning in Adults With and Without Down Syndrome.

Published in:

Adapted Physical Activity Quarterly, 2005, v. 22, n. 3, p. 237, doi. 10.1123/apaq.22.3.237

By:

Hansen, Steve;
Sheahan, Bridget;
Wu, Melinda;
Lyons, James;
Welsh, Timothy;
Elliott, Digby

Publication type:

Article

Fully-Automated μMRI Morphometric Phenotyping of the Tc1 Mouse Model of Down Syndrome.

Published in:

PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0162974

By:

Powell, Nick M.;
Modat, Marc;
Cardoso, M. Jorge;
Ma, Da;
Holmes, Holly E.;
Yu, Yichao;
O’Callaghan, James;
Cleary, Jon O.;
Sinclair, Ben;
Wiseman, Frances K.;
Tybulewicz, Victor L. J.;
Fisher, Elizabeth M. C.;
Lythgoe, Mark F.;
Ourselin, Sébastien

Publication type:

Article

Dissecting Alzheimer disease in Down syndrome using mouse models.

Published in:

Frontiers in Behavioral Neuroscience, 2015, v. 9, p. 1, doi. 10.3389/fnbeh.2015.00268

By:

Xun Yu Choong;
Tosh, Justin L.;
Pulford, Laura J.;
Fisher, Elizabeth M. C.

Publication type:

Article

The down syndrome biomarker initiative (DSBI) pilot: proof of concept for deep phenotyping of Alzheimer's disease biomarkers in down syndrome.

Published in:

Frontiers in Behavioral Neuroscience, 2015, v. 9, p. 1, doi. 10.3389/fnbeh.2015.00239

By:

Rafii, Michael S.;
Wishnek, Hannah;
Brewer, James B.;
Donohue, Michael C.;
Ness, Seth;
Mobley, William C.;
Aisen, Paul S.;
Rissman, Robert A.

Publication type:

Article

Linkage Analysis of Extended High-Risk Pedigrees Replicates a Cutaneous Malignant Melanoma Predisposition Locus on Chromosome 9q21.

Published in:

Journal of Investigative Dermatology, 2013, v. 133, n. 1, p. 128, doi. 10.1038/jid.2012.271

By:

Cannon-Albright, Lisa A;
Teerlink, Craig C;
Farnham, James M;
Thomas, Alun W;
Zone, John J;
Leachman, Sancy A

Publication type:

Article

Hereditary and Sporadic Forms of Aβ-Cerebrovascular Amyloidosis and Relevant Transgenic Mouse Models.

Published in:

International Journal of Molecular Sciences, 2009, v. 10, n. 4, p. 1872, doi. 10.3390/ijms10041872

By:

Kumar-Singh, Samir

Publication type:

Article

The neuronal and endocrine roles of RCAN1 in health and disease.

Published in:

Clinical & Experimental Pharmacology & Physiology, 2018, v. 45, n. 4, p. 377, doi. 10.1111/1440-1681.12884

By:

Peiris, Heshan;
Keating, Damien J.

Publication type:

Article

Genomic integrity of the Y chromosome sequence-taggedsites in infertile and Down syndrome Jordanian males.

Published in:

Andrologia, 2014, v. 46, n. 7, p. 770, doi. 10.1111/and.12147

By:

Yasin, S. R.;
Tahtamouni, L. H.;
Najeeb, N. S.;
Issa, N. M.;
Al–Mazaydeh, Z. A.;
Alfaouri, A. A.

Publication type:

Article

An infant with Down syndrome and retinoblastoma A possible non-fortuitousassociation.

Published in:

Ophthalmic Genetics, 2001, v. 22, n. 2, p. 117, doi. 10.1076/opge.22.2.117.2229

By:

Satgé, Daniel;
Gembara, Piotr;
Sasco, Annie J.;
Francannet, Christine;
Desjardins, Laurence;
Vekemans, Michel;
Demeocq, François

Publication type:

Article

Report of the seventh international workshop on human chromosome 21 mapping 1997.

Published in:

Cytogenetics & Cell Genetics, 1998, v. 82, n. 1/2, p. 1, doi. 10.1159/000015055

By:

Gardiner, K.;
Yaspo, M.-L.

Publication type:

Article

Mice containing a human chromosome 21 model behavioral impairment and cardiac anomalies of Down's syndrome.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 11, p. 1163, doi. 10.1093/hmg/10.11.1163

By:

Shinohara, Tokuyuki;
Tomizuka, Kazuma;
Miyabara, Shinichi;
Takehara, Shoko;
Kazuki, Yasuhiro;
Inoue, Jun;
Katoh, Motonobu;
Nakane, Hironobu;
Iino, Akihiro;
Ohguma, Atsuko;
Ikegami, Shiro;
Inokuchi, Kaoru;
Ishida, Isao;
Reeves, Roger H.;
Oshimura, Mitsuo

Publication type:

Article

Discovery and genetic localization of Down syndrome cerebellar phenotypes using the Ts65Dn mouse.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 2, p. 195, doi. 10.1093/hmg/9.2.195

By:

Baxter, Laura L.

Publication type:

Article

Tetrasomy 21 due to a de novo Robertsonian translocation t(14;21) and an additional free trisomy 21.

Published in:

Clinical Genetics, 2001, v. 60, n. 1, p. 83, doi. 10.1034/j.1399-0004.2001.600114.x

By:

Liehr, T;
Beensen, V;
Starke, H;
Hauschild, R;
Hempell, E;
Fritsche, V;
Hoppe, C;
Großwendt, G;
Prechtel, M;
Ziegler, M;
Claussen, U;
von Eggeling, F

Publication type:

Article

Recombinant Down syndrome: a case report and literature review.

Published in:

Clinical Genetics, 2001, v. 59, n. 2, p. 128, doi. 10.1034/j.1399-0004.2001.590211.x

By:

Lazzaro, SJ;
Speevak, MD;
Farrell, SA

Publication type:

Article

Defects in nerve conduction velocity and different muscle fibre-type specificity contribute to muscle weakness in Ts1Cje Down syndrome mouse model.

Published in:

PLoS ONE, 2018, v. 13, n. 5, p. 1, doi. 10.1371/journal.pone.0197711

By:

Bala, Usman;
Leong, Melody Pui-Yee;
Lim, Chai Ling;
Shahar, Hayati Kadir;
Othman, Fauziah;
Lai, Mei-I;
Law, Zhe-Kang;
Ramli, Khairunnisa;
Htwe, Ohnmar;
Ling, King-Hwa;
Cheah, Pike-See

Publication type:

Article

Rapid maxillary expansion and nasal patency of the down syndrome pediatric population

Published in:

2004

By:

Moura, Carla Pinto;
Vales, Fernando;
Andrade, David C.;
Cunha, Luis M.;
Barros, Henrique;
Clemente, Manuel C. Pais

Publication type:

Abstract

NMDA-Mediated Regulation of DSCAM Dendritic Local Translation Is Lost in a Mouse Model of Down's Syndrome.

Published in:

Journal of Neuroscience, 2010, v. 30, n. 40, p. 13537, doi. 10.1523/JNEUROSCI.3457-10.2010

By:

Alves-Samvaio, Alexandra;
Troca-Marín, Jose Antonio;
Montesinos, Maria Luz

Publication type:

Article

Transmission of trisomy decreases with maternal age in mouse models of Down syndrome, mirroring a phenomenon in human Down syndrome mothers.

Published in:

BMC Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12863-016-0412-3

By:

Stern, Shani;
Biron, David;
Moses, Elisha

Publication type:

Article

Model selection in Bayesian segmentation of multiple DNA alignments.

Published in:

Bioinformatics, 2011, v. 27, n. 5, p. 604, doi. 10.1093/bioinformatics/btq716

By:

Oldmeadow, Christopher;
Keith, Jonathan M.

Publication type:

Article

It's all in the balance.

Published in:

Nature Reviews Genetics, 2006, v. 7, n. 5, p. 333, doi. 10.1038/nrg1857

By:

Skipper, Magdalena

Publication type:

Article

Of mice and men.

Published in:

Nature Reviews Genetics, 2005, v. 6, n. 11, p. 803, doi. 10.1038/nrg1741

By:

Goymer, Patrick

Publication type:

Article

MULTIFACTORIAL GENETICS: Wafer thin diversity.

Published in:

Nature Reviews Genetics, 2002, v. 3, n. 1, p. 6, doi. 10.1038/nrg710

By:

Alfred, Jane

Publication type:

Article

IN BRIEF.

Published in:: 2001
Publication type:: Abstract

The physiological phosphorylation of tau is critically changed in fetal brains of individuals with Down syndrome.

Published in:

Neuropathology & Applied Neurobiology, 2018, v. 44, n. 3, p. 314, doi. 10.1111/nan.12406

By:

Milenkovic, I.;
Jarc, J.;
Dassler, E.;
Aronica, E.;
Iyer, A.;
Adle‐Biassette, H.;
Scharrer, A.;
Reischer, T.;
Hainfellner, J. A.;
Kovacs, G. G.

Publication type:

Article

Autoantibodies linked to autoimmune polyendocrine syndrome type I are prevalent in Down syndrome.

Published in:

Acta Paediatrica, 2006, v. 95, n. 12, p. 1657, doi. 10.1080/08035250600771466

By:

Söderbergh, Annika;
Gustafsson, Jan;
Ekwall, Olov;
Hallgren, Åsa;
Nilsson, Tomas;
Kämpe, Olle;
Rorsman, Fredrik;
Annerén, Göran

Publication type:

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.

Published in:

Cytogenetic & Genome Research, 2003, v. 103, n. 1/2, p. 14, doi. 10.1159/000076284

By:

Weise, A.;
Rittinger, O.;
Starke, H.;
Ziegler, M.;
Claussen, U.;
Liehr, T.

Publication type:

Article

Multi-locus (ML)-FISH is a reliable tool for nondisjunction studies in human oocytes.

Published in:

Cytogenetic & Genome Research, 2003, v. 103, n. 1/2, p. 47, doi. 10.1159/000076287

By:

Eckel, H.;
Kleinstein, J.;
Wieacker, P.;
Stumm, M.

Publication type:

Article

Editorial.

Published in:

2008

By:

Lau, T. K.;
Evans, M. I.

Publication type:

Editorial

Immunological and purine enzyme studies on hyperuricaemic and normouricaemic patients with Down's syndrome.

Published in:

Clinical & Experimental Immunology, 1979, v. 36, n. 3, p. 355

By:

Watts, R. W. E.;
Perera, Y. S.;
Allsop, J.;
Newton, C.;
Platts-Mills, T. A. E.;
Webster, A. D. B.

Publication type:

Article

The blessing effect of an extra copy of chromosome 21.

Published in:

2014

By:

Elsayed, Solaf M.

Publication type:

Editorial