Works matching DE "HUMAN chromosome 21"

Results: 93

Adjustments in the movements of reaching for and grasping objects: the impact of Down Syndrome.

Published in:

Brazilian Journal of Mother & Child Health (BJMCH) / Revista Brasileira de Saude Materno Infantil (RBSMI), 2012, v. 12, n. 2, p. 183

By:

dos Santos, Mariana Martins;
de Campos, Ana Carolina;
Rocha, Nelci Adriana Cicuto Ferreira

Publication type:

Article

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

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

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

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

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

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

Disease specific characteristics of fetal epigenetic markers for non-invasive prenatal testing of trisomy 21.

Published in:

BMC Medical Genomics, 2014, v. 7, n. 1, p. 1, doi. 10.1186/1755-8794-7-1

By:

Ji Hyae Lim;
Da Eun Lee;
So Yeon Park;
Do Jin Kim;
Hyun Kyong Ahn;
You Jung Han;
Moon Young Kim;
Hyun Mee Ryu

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

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

The role of overexpressed DYRK1A protein in the early onset of neurofibrillary degeneration in Down syndrome.

Published in:

Acta Neuropathologica, 2008, v. 116, n. 4, p. 391, doi. 10.1007/s00401-008-0419-6

By:

Wegiel, Jerzy;
Dowjat, Karol;
Kaczmarski, Wojciech;
Kuchna, Izabela;
Nowicki, Krzysztof;
Frackowiak, Janusz;
Kolecka, Bozena Mazur;
Wegiel, Jarek;
Silverman, Wayne P.;
Reisberg, Barry;
deLeon, Mony;
Wisniewski, Thomas;
Cheng-Xin Gong;
Fei Liu;
Adayev, Tatyana;
Mo-Chou Chen-Hwang;
Yu-Wen Hwang

Publication type:

Article

How accurate is a second-trimester prenatal ultrasound in the diagnosis of Down syndrome?

Published in:

Journal of Family Practice, 2001, v. 50, n. 6, p. 490

By:

Smalley, Christopher

Publication type:

Article

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

Protein Dynamics Associated with Failed and Rescued Learning in the Ts65Dn Mouse Model of Down Syndrome.

Published in:

PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0119491

By:

Ahmed, Md. Mahiuddin;
Dhanasekaran, A. Ranjitha;
Block, Aaron;
Tong, Suhong;
Costa, Alberto C. S.;
Stasko, Melissa;
Gardiner, Katheleen J.

Publication type:

Article

MUC4 and MUC1 Expression in Adenocarcinoma of the Stomach Correlates with Vessel Invasion and Lymph Node Metastasis: An Immunohistochemical Study of Early Gastric Cancer.

Published in:

PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0049251

By:

Tamura, Yukihiro;
Higashi, Michiyo;
Kitamoto, Sho;
Yokoyama, Seiya;
Osako, Masahiko;
Horinouchi, Michiko;
Shimizu, Takeshi;
Tabata, Mineo;
Batra, Surinder K.;
Goto, Masamichi;
Yonezawa, Suguru

Publication type:

Article

Brain Phenotype of Transgenic Mice Overexpressing Cystathionine β-Synthase.

Published in:

PLoS ONE, 2012, v. 7, n. 1, p. 1, doi. 10.1371/journal.pone.0029056

By:

Régnier, Vinciane;
Billard, Jean-Marie;
Gupta, Sapna;
Potier, Brigitte;
Woerner, Stéphanie;
Paly, Evelyne;
Ledru, Aurélie;
David, Sabrina;
Luilier, Sabrina;
Bizot, Jean-Charles;
Vacano, Guido;
Kraus, Jan P.;
Patterson, David;
Kruger, Warren D.;
Delabar, Jean M.;
London, Jaqueline

Publication type:

Article

Effect of Leucovorin (Folinic Acid) on the Developmental Quotient of Children with Down's Syndrome (Trisomy 21) and Influence of Thyroid Status.

Published in:

PLoS ONE, 2010, v. 5, n. 1, p. 1, doi. 10.1371/journal.pone.0008394

By:

Blehaut, Henri;
Mircher, Clotilde;
Ravel, Aimé;
Conte, Martine;
de Portzamparc, Veronique;
Poret, Gwendael;
de Kermadec, Françoise Huon;
Rethore, Marie-Odile;
Sturtz, Franck G.

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

Minibrain kinase/dual-specificity tyrosine phosphorylation-regulated kinase 1A (Mnb/Dyrk1A) does not require tyrosine phosphorylation for activity in vitro.

Published in:

FASEB Journal, 2007, v. 21, n. 6, p. A986

By:

Yu-Wen Hwang;
Mo-Chou Chen-Hwang;
Murakami, Noriko;
Adayev, Tatyana;
Lee, Eric;
Bolton, 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

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

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

The blessing effect of an extra copy of chromosome 21.

Published in:

2014

By:

Elsayed, Solaf M.

Publication type:

Editorial

PODRŠKA UDOMITELJA KOJI UDOMLJAVAJU DJECU S DOWN SINDROMOM.

Published in:

Life & School: a Magazine for the Theory and Practice of Education / Život i škola : časopis za teoriju i praksu odgoja i obrazovanja, 2010, n. 23, p. 9

By:

Škrbina, Dijana

Publication type:

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.

Published in:

Human Genetics, 2009, v. 125, n. 1, p. 41, doi. 10.1007/s00439-008-0603-8

By:

Allen, Emily Graves;
Freeman, Sallie B.;
Druschel, Charlotte;
Hobbs, Charlotte A.;
O'Leary, Leslie A.;
Romitti, Paul A.;
Royle, Marjorie H.;
Torfs, Claudine P.;
Sherman, Stephanie L.

Publication type:

Article

Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains.

Published in:

Human Genetics, 2001, v. 108, n. 2, p. 140, doi. 10.1007/s004390000453

By:

Wattenhofer, Marie;
Shibuya, Kazunori;
Kudoh, Jun;
Lyle, Robert;
Michaud, Joelle;
Rossier, Colette;
Kawasaki, Kazuhiko;
Asakawa, Shuichi;
Minoshima, Shinsei;
Berry, Asher;
Bonne-Tamir, Batsheva;
Shimizu, Nobuyoshi;
Antonarakis, Stylianos;
Scott, Hamish

Publication type:

Article

Heterotrisomy, a significant contributing factor to ventricular septal defect associated with Down syndrome?

Published in:

Human Genetics, 2000, v. 107, n. 5, p. 476, doi. 10.1007/s004390000395

By:

Baptista, Melisa J.;
Fairbrother, Una L.;
Howard, Catherine M.;
Farrer, Matthew J.;
Davies, Gail E.;
Trikka, Dimitra;
Maratou, Klio;
Redington, Andrew;
Greve, Gottfried;
Njølstad, Pål;
Kessling, Anna M.

Publication type:

Article

Interchromosomal effects for chromosome 21 in carriers of structural chromosome reorganizations determined by fluorescence in situ hybridization on sperm nuclei.

Published in:

Human Genetics, 2000, v. 106, n. 5, p. 500, doi. 10.1007/s004390000295

By:

Blanco, Joan;
Egozcue, Josep;
Vidal, Francesca

Publication type:

Article

Variation in alphoid DNA size and trisomy 21: a possible cause of nondisjunction.

Published in:

Human Genetics, 2000, v. 106, n. 5, p. 525, doi. 10.1007/s004390050020

By:

Maratou, Klio;
Siddique, Yasmeen;
Kessling, Anna M.;
Davies, Gail E.

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

What factors regulate HCG production in Down's syndrome pregnancies?

Published in:

Molecular Human Reproduction, 1999, v. 5, n. 10, p. 895, doi. 10.1093/molehr/5.10.895

By:

Knöfler, Martin

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.

Published in:

Molecular Human Reproduction, 1998, v. 4, n. 7, doi. 10.1093/molehr/4.7.695

By:

Rousseaux, S;
Hazzouri, M;
Pelletier, R;
Monteil, M;
Usson, Y;
Sèle, B

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

Gene-Dosage Effect on Chromosome 21 Transcriptome in Trisomy 21: Implication in Down Syndrome Cognitive Disorders.

Published in:

Behavior Genetics, 2006, v. 36, n. 3, p. 416, doi. 10.1007/s10519-006-9053-z

By:

Kahlem, Pascal

Publication type:

Article

Transcriptional Dysregulation in Down Syndrome: Predictions for Altered Protein Complex Stoichiometries and Post-translational Modifications, and Consequences for Learning/Behavior Genes ELK, CREB, and the Estrogen and Glucocorticoid Receptors.

Published in:

Behavior Genetics, 2006, v. 36, n. 3, p. 439, doi. 10.1007/s10519-006-9051-1

By:

Gardiner, Katheleen

Publication type:

Article

The Production of Transgenic Mice Expressing Human Cystathionine Beta-Synthase to Study Down Syndrome.

Published in:

Behavior Genetics, 2006, v. 36, n. 3, p. 429, doi. 10.1007/s10519-006-9046-y

By:

Butler, Christine;
Knox, Aaron;
Bowersox, Jeffrey;
Forbes, Stacy;
Patterson, David

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

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

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

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.

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

Editorial.

Published in:

2008

By:

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

Publication type:

Editorial

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

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