Works matching DE "TRISOMY"

Results: 1442

Impaired Sustained Attention and Error-Induced Stereotypy in the Aged Ts65Dn Mouse: A Mouse Model of Down Syndrome and Alzheimer's Disease.

Published in:

2004

By:

Driscoll, Lori L.;
Carroll, Jenna C.;
Moon, Jisook;
Crnic, Linda S.;
Levitsky, David A.;
Strupp, Barbara J.

Publication type:

Journal Article

Chromosome 5 and Schizophrenia: Implications for Genetic Linkage Studies.

Published in:

1989

By:

Bassett, Anne S.

Publication type:

Journal Article

Physical Mapping, Linkage Analysis of a Putative Schizophrenia Locus on Chromosome 5q.

Published in:

1989

By:

Kaufmann, Charles A.;
DeLisi, Lynn E.;
Lehner, Thomas;
Gilliam, T. Conrad

Publication type:

Journal Article

Operant eyelid conditioning in Trisomy 18: Replication and extension.

Published in:

1970

By:

Lloyd, Kenneth E.;
Russell, Harry K.;
Garmize, Lewis M.

Publication type:

Journal Article

Operant eyelid conditioning in trisomy-18.

Published in:

1966

By:

Brownfield, E. Dorothy;
Keehn, Jack D.

Publication type:

Journal Article

Ambiguous genitalia in neonates: a 4-year prospective study in a localized area.

Published in:

Eastern Mediterranean Health Journal, 2010, v. 16, n. 2, p. 214, doi. 10.26719/2010.16.2.214

By:

Al-Mulhim, A. N.;
Kamal, H. M.

Publication type:

Article

Cost-effectiveness of cell-free DNA in maternal blood testing for prenatal detection of trisomy 21, 18 and 13: a systematic review.

Published in:

2018

By:

García-Pérez, Lidia;
Linertová, Renata;
Álvarez-de-la-Rosa, Margarita;
Bayón, Juan Carlos;
Imaz-Iglesia, Iñaki;
Ferrer-Rodríguez, Jorge;
Serrano-Aguilar, Pedro

Publication type:

journal article

Placental mosaicism for Trisomy 13: a challenge in providing the cell-free fetal DNA testing.

Published in:

2014

By:

Liu, Xiang-Yin;
Zhang, Hong-Guo;
Wang, Rui-Xue;
Chen, Shuang;
Yu, Xiao-Wei;
Liu, Rui-Zhi

Publication type:

Report

The high incidence of STR D21S1446 homozygosity in Han and She populations living in South Eastern China.

Published in:

Journal of Assisted Reproduction & Genetics, 2012, v. 29, n. 4, p. 337, doi. 10.1007/s10815-011-9699-1

By:

Wu, Jin-Fang;
Xia, Lu;
Liu, Yu-Xin;
Zhang, Xin;
Li, Chen;
Li, Ming-Li

Publication type:

Article

Is gestation in Prader-Willi syndrome affected by the genetic subtype?

Published in:

Journal of Assisted Reproduction & Genetics, 2009, v. 26, n. 8, p. 461, doi. 10.1007/s10815-009-9341-7

By:

Butler, Merlin G.;
Sturich, Jennifer;
Myers, Susan E.;
Gold, June-Anne;
Kimonis, Virginia;
Driscoll, Daniel J.

Publication type:

Article

Expression of the DYRK1A gene correlates with its 3D positioning in the interphase nucleus of Down syndrome cells.

Published in:

Chromosome Research, 2015, v. 23, n. 2, p. 285, doi. 10.1007/s10577-015-9467-7

By:

Paz, Nerea;
Felipe-Blanco, Izaskun;
Royo, Félix;
Zabala, Amaia;
Guerra-Merino, Isabel;
García-Orad, África;
Zugaza, José;
Parada, Luis

Publication type:

Article

Recurrent trisomy and Robertsonian translocation of chromosome 14 in murine iPS cell lines.

Published in:

Chromosome Research, 2011, v. 19, n. 7, p. 857, doi. 10.1007/s10577-011-9239-y

By:

Chen, Qian;
Shi, Xiaoyun;
Rudolph, Cornelia;
Yu, Yong;
Zhang, Ding;
Zhao, Xiaoyu;
Mai, Sabine;
Wang, Gang;
Schlegelberger, Brigitte;
Shi, Qinghua

Publication type:

Article

An algorithm for determining the origin of trisomy and the positions of chiasmata from SNP genotype data.

Published in:

Chromosome Research, 2011, v. 19, n. 2, p. 155, doi. 10.1007/s10577-010-9181-4

By:

Gabriel, Alem;
Hassold, Terry;
Thornhill, Alan;
Affara, Nabeel;
Handyside, Alan;
Griffin, Darren

Publication type:

Article

Ewing’s sarcoma of the kidney.

Published in:

International Journal of Clinical Oncology, 2010, v. 15, n. 3, p. 314, doi. 10.1007/s10147-010-0042-0

By:

Angel, Joel R.;
Alfred, Anushayanthan;
Sakhuja, Ankit;
Sells, Ryan E.;
Zechlinski, Joseph John

Publication type:

Article

Likelihood ratio formulae for disputed parentage when the product of conception is trisomic.

Published in:

International Journal of Legal Medicine, 2017, v. 131, n. 6, p. 1513, doi. 10.1007/s00414-017-1573-y

By:

Taylor, Duncan;
Handt, Oliva;
Abarno, Damien;
Buckleton, John

Publication type:

Article

An assessment of the vestibulo-ocular reflex (VOR) in persons with Down syndrome.

Published in:

Experimental Brain Research, 2011, v. 214, n. 2, p. 199, doi. 10.1007/s00221-011-2820-y

By:

Costa, Alberto

Publication type:

Article

Abstracts.

Published in:: Medical Principles & Practice, 2005, v. 14, p. 98, doi. 10.1159/000086191
Publication type:: Article

RAPIDR: an analysis package for non-invasive prenatal testing of aneuploidy.

Published in:

Bioinformatics, 2014, v. 30, n. 20, p. 2965, doi. 10.1093/bioinformatics/btu419

By:

Lo, Kitty K.;
Boustred, Christopher;
Chitty, Lyn S.;
Plagnol, Vincent

Publication type:

Article

TroX: a new method to learn about the genesis of aneuploidy from trisomic products of conception.

Published in:

Bioinformatics, 2014, v. 30, n. 14, p. 2035, doi. 10.1093/bioinformatics/btu159

By:

Kermany, Amir R.;
Segurel, Laure;
Oliver, Tiffany R.;
Przeworski, Molly

Publication type:

Article

Statistical model for whole genome sequencing and its application to minimally invasive diagnosis of fetal genetic disease.

Published in:

Bioinformatics, 2009, v. 25, n. 10, p. 1244, doi. 10.1093/bioinformatics/btp156

By:

Tianjiao Chu;
Kimberly Bunce;
W. Allen Hogge;
David G. Peters

Publication type:

Article

First-Trimester Screening Tests and Perinatal Outcomes.

Published in:

Istanbul Gelisim University Journal of Health Sciences / İstanbul Gelişim Üniversitesi Sağlık Bilimleri Dergisi, 2024, n. 22, p. 29, doi. 10.38079/igusabder.1172996

By:

SUMAN, Kamuran;
GÖK, Ebru;
BÜYÜK, Musa;
SUMAN, Murat

Publication type:

Article

Genotoxic stress in constitutive trisomies induces autophagy and the innate immune response via the cGAS-STING pathway.

Published in:

Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02278-9

By:

Krivega, Maria;
Stiefel, Clara M.;
Karbassi, Sahar;
Andersen, Line L.;
Chunduri, Narendra K.;
Donnelly, Neysan;
Pichlmair, Andreas;
Storchová, Zuzana

Publication type:

Article

Clinical genetics: DNA sequencing trumps standard screening tools.

Published in:

Nature Reviews Genetics, 2014, v. 15, n. 5, p. 288, doi. 10.1038/nrg3716

By:

Koch, Linda

Publication type:

Article

A RARE TRISOMY OF CHROMOSOME 4 IN ACUTE MYELOID LEUKEMIA - CASE REPORT.

Published in:

Genetics & Applications, 2024, p. 31

By:

Bojana, Malešević;
Marija, Vuković

Publication type:

Article

Aligning genotyping and copy number data in single trophectoderm biopsies for aneuploidy prediction: uncovering incomplete concordance.

Published in:

Human Reproduction Open, 2024, v. 2024, n. 4, p. 1, doi. 10.1093/hropen/hoae056

By:

Witte, Lisa De;
Baetens, Machteld;
Tilleman, Kelly;
Meerschaut, Frauke Vanden;
Janssens, Sandra;
Tongerloo, Ariane Van;
Szymczak, Virginie;
Stoop, Dominic;
Dheedene, Annelies;
Symoens, Sofie;
Menten, Björn

Publication type:

Article

Detection of Copy Number Variation by SNP-Allelotyping.

Published in:

Journal of Neurogenetics, 2015, v. 29, n. 1, p. 4, doi. 10.3109/01677063.2014.923884

By:

Parker, Brett;
Alexander, Ryan;
Wu, Xingyao;
Feely, Shawna;
Shy, Michael;
Schnetz-Boutaud, Nathalie;
Li, Jun

Publication type:

Article

Cytogenetic and Neurobiological Advances in Down syndrome.

Published in:

Anales de Psicología, 2014, v. 30, n. 1, p. 347, doi. 10.6018/analesps.30.1.132231

By:

Fernández-Alcaraz, Camino;
Carvajal-Molina, Fernando

Publication type:

Article

Identification and Genome-Wide Gene Expression Perturbation of a Trisomy in Chinese Kale (Brassica oleracea var. alboglabra).

Published in:

Plants (2223-7747), 2023, v. 12, n. 18, p. 3199, doi. 10.3390/plants12183199

By:

Feng, Qun;
Yu, Junxing;
Yu, Jie;
Hu, Mingyang;
Gu, Lei;
Wang, Hongcheng;
Du, Xuye;
Zhu, Bin;
Cai, Mengxian

Publication type:

Article

Caveats in the Established Understanding of CMT1A.

Published in:

Annals of Clinical & Translational Neurology, 2017, v. 4, n. 8, p. 601, doi. 10.1002/acn3.432

By:

Li, Jun

Publication type:

Article

Association of chromosome 7, chromosome 10 and EGFR gene amplification in glioblastoma multiforme.

Published in:

Clinical Neuropathology, 2005, v. 24, n. 5, p. 209

By:

Lopez-Gines, C.;
Cerda-Nicolas, M.;
Gil-Benso, R.;
Pellin, A.;
Lopez-Guerrero, J. A.;
Callaghan, R.;
Benito, R.;
Roldan, P.;
Piquer, J.;
Llacer, J.;
Barbera, J.

Publication type:

Article

Cytogenetic characteristics of 665 patients with myelodysplastic syndrome in China: A single-center report.

Published in:

Oncology Letters, 2021, v. 21, n. 2, p. 1, doi. 10.3892/ol.2020.12387

By:

XUEYING WANG;
WEIYI LIU;
MINGJING WANG;
TENG FAN;
YUMENG LI;
XIAOQING GUO;
XIUPENG YANG;
HONGZHI WANG;
HAIYAN XIAO;
SHANSHAN ZHANG;
RICHENG QUAN;
CHI LIU;
XUDONG TANG;
YAN LV;
ZHUO CHEN;
LIU LI;
YONGGANG XU;
ROU MA;
XIAOMEI HU

Publication type:

Article

De novo acute myeloid leukemia subtype-M4 with initial trisomy 8 and later acquired t(3;12)(q26;p12) leading to ETV6/MDS1/EVI1 fusion transcript expression: A case report.

Published in:

Oncology Letters, 2014, v. 7, n. 3, p. 787, doi. 10.3892/ol.2014.1784

By:

AL ACHKAR, WALID;
ALJAPAWE, ABDULMUNIM;
LIEHR, THOMAS;
WAFA, ABDULSAMAD

Publication type:

Article

Prevalence of Autosomal Monosomy and Trisomy Estimated Using Single Nucleotide Polymorphism Genotype Intensity Chip Information in a Large Population of Juvenile Dairy and Beef Cattle.

Published in:

Journal of Animal Breeding & Genetics, 2025, v. 142, n. 3, p. 277, doi. 10.1111/jbg.12902

By:

Ryan, Cliona A.;
Purfield, Deirdre C.;
Matthews, Daragh;
Rathje, Claudia;
Valldecabres, Ainhoa;
Berry, Donagh P.

Publication type:

Article

Keynote Presentations.

Published in:: 2009
Publication type:: Abstract

Specific language impairment as the prominent feature in a patient with a low-level trisomy 21 mosaicism.

Published in:

Journal of Intellectual Disability Research, 2007, v. 51, n. 5, p. 401, doi. 10.1111/j.1365-2788.2006.00912.x

By:

Paoloni‐Giacobino, A.;
Lemieux, N.;
Lemyre, E.;
Lespinasse, J.

Publication type:

Article

Lymphocyte subpopulations in Down's syndrome: high percentage of circulating HNK-1<sup>+</sup>, Leu 2a<sup>+</sup> cells.

Published in:

Clinical & Experimental Immunology, 1984, v. 57, n. 1, p. 220

By:

Maccarlo, Rita;
Ugazio, A. G.;
Nespoli, L.;
Alberini, Cristina;
Montagna, Daniela;
Porta, F.;
Bonetti, F.;
Burgio, G. R.

Publication type:

Article

Antibody response to pneumococcal vaccine in patients with trisomy-21 (Down's syndrome).

Published in:

Clinical & Experimental Immunology, 1982, v. 48, n. 2, p. 485

By:

Nurmi, T.;
Leinonen, Maija;
M. Häivä, A.;
Tilikainen, Anja;
Kouvalainen, D.

Publication type:

Article

Widespread impairment of cell proliferation in the neonate Ts65Dn mouse, a model for Down syndrome.

Published in:

Cell Proliferation, 2009, v. 42, n. 2, p. 171, doi. 10.1111/j.1365-2184.2009.00587.x

By:

Contestabile, A.;
Fila, T.;
Cappellini, A.;
Bartesaghi, R.;
Ciani, E.

Publication type:

Article

High polymorphism in the trisomic portion of a gastric cancer cell line.

Published in:

Journal of Gastroenterology, 2007, v. 42, n. 3, p. 196, doi. 10.1007/s00535-006-2001-0

By:

Jacobson, Blake A.;
Fink, James M.;
Whitson, Bryan A.;
Ferrin, Lance J.

Publication type:

Article

Ophthalmic manifestations of trisomy 8 mosaic syndrome.

Published in:

Ophthalmic Genetics, 1998, v. 19, n. 2, p. 81, doi. 10.1076/opge.19.2.81.2324

By:

Anwar, S.;
Bradshaw, K.;
Vivian, A.J.

Publication type:

Article

A case of microphthalmos with cyst and partial trisomy 22.

Published in:

Ophthalmic Genetics, 1998, v. 19, n. 2, p. 93, doi. 10.1076/opge.19.2.93.2319

By:

Kodama, Tatsuo;
Shibuya, Yuzo;
Setogawa, Tomoichi;
Hasegawa, Yuki;
Yamaguchi, Seiji;
Hirayama, Yoshiaki

Publication type:

Article

Linear and whorled naevoid hypermelanosis in a patient with trisomy 4 mosaicism.

Published in:

Clinical & Experimental Dermatology, 2015, v. 40, n. 1, p. 45, doi. 10.1111/ced.12484

By:

Lal, K.;
Di Lernia, V.

Publication type:

Article

Keratinocyte cytogenetics in 10 patients with pigmentary mosaicism: identification of one case of trisomy 20 mosaicism confined to keratinocytes.

Published in:

Clinical & Experimental Dermatology, 2009, v. 34, n. 7, p. 823, doi. 10.1111/j.1365-2230.2009.03208.x

By:

Taibjee, S. M.;
Hall, D.;
Balderson, D.;
Larkins, S.;
Stubbs, T.;
Moss, C.

Publication type:

Article

SSR Markers Exhibit Trisomic Segregation Distortion in Soybean.

Published in:

Crop Science, 2006, v. 46, n. 4, p. 1456, doi. 10.2135/cropsci2004.0451

By:

Zou, J. J.;
Singh, R. J.;
Lee, J.;
Xu, S. J.;
Hymowitz, T.

Publication type:

Article

Physical Map Location of the Rps1-l Allele in Soybean.

Published in:

Crop Science, 2001, v. 41, n. 5, p. 1435, doi. 10.2135/cropsci2001.4151435x

By:

Gardner, M.E.;
Hymowitz, T.;
Xu, S.J.;
Hartman, G.L.

Publication type:

Article

Transient leukemia in a newborn without Down syndrome: case report and review of the literature.

Published in:

European Journal of Pediatrics, 2014, v. 173, n. 12, p. 1643, doi. 10.1007/s00431-013-2163-8

By:

Rozen, Laurence;
Huybrechts, Sophie;
Dedeken, Laurence;
Heijmans, Catherine;
Dessars, Barbara;
Heimann, Pierre;
Lambert, Frédéric;
Noubouossie, Denis;
Ferster, Alina;
Demulder, Anne

Publication type:

Article

Hematological disorders and leukemia in children with Down syndrome.

Published in:

European Journal of Pediatrics, 2012, v. 171, n. 9, p. 1301, doi. 10.1007/s00431-011-1624-1

By:

Bruwier, Annelyse;
Chantrain, Christophe

Publication type:

Article

Cardiac malformation of partial trisomy 7p/monosomy 18p and partial trisomy 18p/monosomy 7p in siblings as a result of reciprocal unbalanced malsegregation-and review of the literature.

Published in:

European Journal of Pediatrics, 2012, v. 171, n. 7, p. 1047, doi. 10.1007/s00431-012-1682-z

By:

Schmidt, Beate;
Udink ten Cate, Floris;
Weiß, Michael;
Koehler, Udo

Publication type:

Article

Clinical practice. The care of children with Down syndrome.

Published in:

2010

By:

Weijerman, Michel E.;
De Winter, J. Peter

Publication type:

journal article

Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis.

Published in:

2010

By:

Lalatta, Faustina;
Quagliarini, Donatella;
Folliero, Emanuela;
Cavallari, Ugo;
Gentilin, Barbara;
Castorina, Pierangela;
Forzano, Francesca;
Forzano, Serena;
Grosso, Enrico;
Viassolo, Valeria;
Naretto, Valeria;
Gattone, Stefania;
Ceriani, Florinda;
Faravelli, Francesca;
Gargantini, Luigi;
Naretto, Valeria Giorgia

Publication type:

journal article