Works matching DE "TRISOMY"

Results: 1445

Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiency.

Published in:

Blood Cancer Journal, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41408-025-01309-6

By:

Kotmayer, Lili;
Kozyra, Emilia J.;
Kang, Guolian;
Strahm, Brigitte;
Yoshimi, Ayami;
Sahoo, Sushree S.;
Pastor, Victor B.;
Attardi, Enrico;
Voss, Rebecca;
Vinci, Luca;
Kaiser, Max;
Dworzak, Michael N.;
De Moerloose, Barbara;
Sukova, Martina;
Starý, Jan;
Hasle, Henrik;
Jahnukainen, Kirsi;
Polychronopoulou, Sophia;
Kállay, Krisztián;
Smith, Owen P.

Publication type:

Article

Two Cases of Chromosome 27 Trisomy in Horses Detected Using Illumina BeadChip Genotyping.

Published in:

Animals (2076-2615), 2025, v. 15, n. 13, p. 1842, doi. 10.3390/ani15131842

By:

Ryan, Cliona A.;
Berry, Donagh P.;
Bugno-Poniewierska, Monika;
Burke, Mary-Kate;
Raudsepp, Terje;
Egan, Sonja;
Doyle, Jennifer L.

Publication type:

Article

Inferring chromosome segregation error stage and crossover in trisomic disorders with application to Down syndrome.

Published in:

Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-61413-w

By:

Li, Zhenhua;
Yang, Wenjian;
Wu, Gang;
Chang, Ti-Cheng;
Cheng, Zhongshan;
Devidas, Meenakshi;
Shago, Mary;
Carroll, Andrew J.;
Heerema, Nyla A.;
Gastier-Foster, Julie M.;
Wood, Brent L.;
Sanclemente, Lauren;
Raetz, Elizabeth A.;
Hunger, Stephen P.;
Loh, Mignon L.;
Feingold, Eleanor;
Rosser, Tracie C.;
Allen, Emily G.;
Sherman, Stephanie L.;
Rabin, Karen R.

Publication type:

Article

Clinical features and novel pathogenic variants of patients with Behçet's disease like trisomy 8.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03878-y

By:

Ding, Xingru;
Yang, Jinghan;
Han, Xiao;
Shen, Yi-Fan;
Yang, Kangkang;
Shangguan, Yaoyao;
Dong, Yiwei;
Ye, Xiaohua

Publication type:

Article

Influence of parental age on chromosomal abnormalities in PGT-A embryos: exponentially increasing in the mother and completely null in the father.

Published in:

Journal of Assisted Reproduction & Genetics, 2025, v. 42, n. 6, p. 1833, doi. 10.1007/s10815-025-03462-0

By:

Matorras, Roberto;
Sierra, Silvia;
Pérez-Fernández, Silvia;
Malaina, Iker;
Santos-Zorrozua, Borja;
Prieto, Begoña;
Quintana, Fernando;
Ferrando, Marcos;
Rubio, Carmen;
Gantxegi, Maitane

Publication type:

Article

Application of non-invasive prenatal testing for fetal chromosomal disorders in low-risk pregnancies: a follow-up study in central China.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1574775

By:

Huang, Qiuxiang;
Xu, Qiao;
Chen, Meihuan;
Fan, Wenli;
Huang, Hailong

Publication type:

Article

Strain background interacts with chromosome 7 aneuploidy to determine commensal and virulence phenotypes in Candida albicans.

Published in:

PLoS Genetics, 2025, v. 21, n. 6, p. 1, doi. 10.1371/journal.pgen.1011650

By:

Mishra, Abhishek;
Solis, Norma V.;
Dietz, Siobhan M.;
Crouch, Audra L.;
Filler, Scott G.;
Anderson, Matthew Z.

Publication type:

Article

ChromoCheck: Predicting Postnatal Chromosomal Trisomy Cases Using a Support Vector Machine Learning Model.

Published in:

Genes, 2025, v. 16, n. 6, p. 695, doi. 10.3390/genes16060695

By:

Al-Mahrami, Nabras;
Al Jabri, Nuha;
Sallam, Amal A. W.;
Al Jahdhami, Najwa;
Zadjali, Fahad

Publication type:

Article

Morbidity and mortality following noncardiac surgical procedures among children with autosomal trisomy.

Published in:

Pediatric Anesthesia, 2022, v. 32, n. 5, p. 631, doi. 10.1111/pan.14415

By:

Matthews, Leslie J.;
Mpody, Christian;
Nafiu, Olubukola O.;
Tobias, Joseph D.

Publication type:

Article

Síndrome mieloproliferativo neonatal transitorio. Informe de dos casos.

Published in:

Acta Pediatrica de Mexico, 2011, v. 32, n. 2, p. 82

By:

Orozco-Gutiérrez, Arianna Kristina;
Ávila-Iglesias, María del Carmen

Publication type:

Article

Down Syndrome-Associated Periodontitis: A Critical Review of the Literature.

Published in:

Compendium of Continuing Education in Dentistry (15488578), 2012, v. 33, n. 5, p. 356

By:

Frydman, Alon;
Nowzari, Hessam

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

Down syndrome and the enteric nervous system.

Published in:

2008

By:

Moore, S. W.

Publication type:

journal article

Cecal volvulus in children with mental disability.

Published in:

2007

By:

Takada, Kohei;
Hamada, Yoshinori;
Sato, Masato;
Fujii, Yoshimitsu;
Teraguchi, Masayuki;
Kaneko, Kazumari;
Kamiyama, Yasuo

Publication type:

journal article

Incidence of cryptorchidism and ascending testes in Trisomy 21: a 10 year retrospective review.

Published in:

Pediatric Surgery International, 2004, v. 20, n. 10, p. 744, doi. 10.1007/s00383-004-1290-8

By:

Chew, Grace;
Hutson, John M.

Publication type:

Article

Trisomy 22: First and Second Trimester Cytogenetic Analysis and Phenotypic Presentation in a Series of Seven Cases.

Published in:

Fetal Diagnosis & Therapy, 2024, v. 51, n. 2, p. 112, doi. 10.1159/000534619

By:

Minella, Chris;
Jeandidier, Eric;
Koch, Antoine;
Antal, Maria Cristina;
Favre, Romain;
Sananes, Nicolas;
Weingertner, Anne-Sophie

Publication type:

Article

Pyogenic Liver Abscess Masquerading as a Hepatic Neoplasm.

Published in:

2015

By:

Taylor, Sarah;
Lobritto, Steven;
Orellana, Katherine;
Novak, Inna;
Jan, Dominique;
Martine, Mercedes;
Ovchinsky, Nadia

Publication type:

Case Study

Manifestations of systemic lupus erythematosus in female patients with polysomy X: Possible roles of chromosome X.

Published in:

Modern Rheumatology, 2019, v. 29, n. 1, p. 192, doi. 10.1080/14397595.2016.1205800

By:

Taro Iwamoto;
Masanori Fujimoto;
Kei Ikeda;
Aiko Saku;
Sohei Makita;
Shunsuke Furuta;
Niewold, Timothy B.;
Hiroshi Nakajima

Publication type:

Article

Diagnostic Accuracy Performance of Fluorescence In Situ Hybridization (FISH) for Biliary Strictures: A Systematic Review and Meta-Analysis.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 21, p. 6457, doi. 10.3390/jcm13216457

By:

Aggarwal, Manik;
Simadibrata, Daniel M.;
Kipp, Benjamin R.;
Prokop, Larry J.;
Barr Fritcher, Emily G.;
Schneider, Amber;
Cooley, Matthew A.;
Gores, Gregory J.;
Eaton, John;
Roberts, Lewis R.;
Chandrasekhara, Vinay

Publication type:

Article

Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies.

Published in:

Journal of Clinical Medicine, 2020, v. 9, n. 8, p. 2466, doi. 10.3390/jcm9082466

By:

Kleinfinger, Pascale;
Lohmann, Laurence;
Luscan, Armelle;
Trost, Detlef;
Bidat, Laurent;
Debarge, Véronique;
Castaigne, Vanina;
Senat, Marie-Victoire;
Brechard, Marie-Pierre;
Guilbaud, Lucie;
Le Guyader, Gwenaël;
Satre, Véronique;
Laurichesse Delmas, Hélène;
Lallaoui, Hakima;
Manca-Pellissier, Marie-Christine;
Boughalem, Aicha;
Valduga, Mylene;
Hodeib, Farah;
Benachi, Alexandra;
Costa, Jean Marc

Publication type:

Article

Accumulation of dolichol in older tissues satisfies the proposed criteria to be qualified a biomarker of aging.

Published in:

2005

By:

Parentini, Ilaria;
Cavallini, Gabriella;
Donati, Alessio;
Gori, Zina;
Bergamini, Ettore

Publication type:

journal article

Left Subdiaphragmatic Echogenic Focus in the Fetus and Its Effect on Prognosis.

Published in:

Journal of Ankara University Faculty of Medicine / Ankara Üniversitesi Tip Fakültesi Mecmuasi, 2023, v. 76, n. 1, p. 45, doi. 10.4274/atfm.galenos.2023.05924

By:

Annaç, Gökçe

Publication type:

Article

Pleiotropic effects of trisomy and pharmacologic modulation on structural, functional, molecular, and genetic systems in a Down syndrome mouse model.

Published in:

eLife, 2024, p. 1, doi. 10.7554/eLife.89763

By:

Llambrich, Sergi;
Tielemans, Birger;
Saliën, Ellen;
Atzori, Marta;
Wouters, Kaat;
Van Bulck, Vicky;
Platt, Mark;
Vanherp, Laure;
Gallego Fernandez, Nuria;
Grau de la Fuente, Laura;
Poptani, Harish;
Verlinden, Lieve;
Himmelreich, Uwe;
Croitor, Anca;
Attanasio, Catia;
Callaerts-Vegh, Zsuzsanna;
Gsell, Willy;
Martínez-Abadías, Neus;
Vande Velde, Greetje

Publication type:

Article

Asyndromic Trisomy X Presented With Premature Ovarian Failure: A Case Report.

Published in:

Malaysian Journal of Medicine & Health Sciences, 2018, v. 14, p. 216

By:

Ahmad, Ahzad Hadi;
Mydin, Rabiatul Basria S. M. N.;
Nur Ain Nisrina Roan;
Azhari, Abdul Rahman;
Yusoff, Narazah Mohd

Publication type:

Article

Down syndrome-associated haematopoiesis abnormalities created by chromosome transfer and genome editing technologies.

Published in:

Scientific Reports, 2014, p. 1, doi. 10.1038/srep06136

By:

Kazuki, Yasuhiro;
Yakura, Yuwna;
Abe, Satoshi;
Osaki, Mitsuhiko;
Kajitani, Naoyo;
Kazuki, Kanako;
Takehara, Shoko;
Honma, Kazuhisa;
Suemori, Hirofumi;
Yamazaki, Satoshi;
Sakuma, Tetsushi;
Toki, Tsutomu;
Shimizu, Ritsuko;
Nakauchi, Hiromitsu;
Yamamoto, Takashi;
Oshimura, Mitsuo

Publication type:

Article

Higher limb asymmetry in deceased human fetuses and infants with aneuploidy.

Published in:

Scientific Reports, 2014, p. 1, doi. 10.1038/srep03703

By:

Bots, Jessica;
Ten Broek, Clara M. A.;
Belien, Jeroen A. M.;
Bugiani, Marianna;
Galis, Frietson;
Van Dongen, Stefan

Publication type:

Article

Trisomy 26 in a Holstein calf with disorders of sex development.

Published in:

Animal Genetics, 2025, v. 56, n. 1, p. 1, doi. 10.1111/age.13489

By:

Freick, Markus;
Jacinto, Joana G. P.;
Häfliger, Irene M.;
Weber, Jim;
Behn, Holger;
Schreiter, Ruben;
Drögemüller, Cord

Publication type:

Article

Trisomy 29 in a stillborn Swiss Original Braunvieh calf.

Published in:

Animal Genetics, 2020, v. 51, n. 3, p. 483, doi. 10.1111/age.12929

By:

Häfliger, Irene Monika;
Seefried, Franz;
Drögemüller, Cord

Publication type:

Article

Chronic myelomonocytic leukaemia after platinum-based therapy for non-small cell lung cancer: case report and review of the literature.

Published in:

Journal of Clinical Pharmacy & Therapeutics, 2006, v. 31, n. 4, p. 401, doi. 10.1111/j.1365-2710.2006.00748.x

By:

Kim, K. B.;
Faderl, S.;
Hwang, C. S.;
Khuri, F. R.

Publication type:

Article

Candidate Genes Associated With Neurological Findings in a Patient With Trisomy 4p16.3 and Monosomy 5p15.2.

Published in:

Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00561

By:

Corrêa, Thiago;
Poswar, Fabiano;
Feltes, Bruno César;
Riegel, Mariluce

Publication type:

Article

De Novo Small Supernumerary Marker Chromosomes Arising From Partial Trisomy Rescue.

Published in:

Frontiers in Genetics, 2020, p. 1, doi. 10.3389/fgene.2020.00132

By:

Matsubara, Keiko;
Yanagida, Kaede;
Nagai, Toshiro;
Kagami, Masayo;
Fukami, Maki

Publication type:

Article

GENOMIC PROFILING BY MULTIPLEX LIGATION - DEPENDENT PROBE AMPLIFICATION IN CHRONIC LYMPHOCYTIC LEUKEMIA PATIENTS.

Published in:

Analele Stiintifice ale Universitatii Alexandru Ioan Cuza din Iasi. Sectiunea II A, Genetica si Biologie Moleculara, 2013, v. 14, n. 3, p. 27

By:

GRIGORE, GEORGIANA EMILIA;
IVANOV, IULIU;
POPESCU, ROXANA;
ZLEI, MIHAELA;
DASCALESCU, ANGELA;
JITARU, DANIELA;
PETREUS, TUDOR;
CARASEVICI, EUGEN

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

Rehabilitation Treatment of a Child Diagnosed With Duplication of 1q42-q44: A Case Report.

Published in:

2016

By:

Seong Woo Kim;
Jiyong Kim;
Ha Ra Jeon;
Min Jung Park;
Yoon Kim

Publication type:

Case Study

Mosaic trisomy 20 and mitigation in capital crimes sentencing: A review and case report.

Published in:

2019

By:

Montplaisir, Rose;
Lee, Erica;
Moreno‐De‐Luca, Daniel;
Myers, Wade C.;
Moreno-De-Luca, Daniel

Publication type:

journal article

A case achieved at 28 weeks of gestation by cervical cerclage with retained placenta after expulsion of nonviable fetus underwent selective termination in multifetal pregnancy.

Published in:

Perinatal Journal / Perinatoloji Dergisi, 2019, v. 27, n. 2, p. 119, doi. 10.2399/prn.19.0272005

By:

Özcan, Pınar;
Kütük, Mehmet Serdar;
Takmaz, Taha;
İşlek, Havva Sevde

Publication type:

Article

Mosaic trisomy 8: diagnostic approach with fetal MRI as a complement to ultrasonography.

Published in:

Perinatal Journal / Perinatoloji Dergisi, 2015, v. 23, n. 2, p. 113, doi. 10.2399/prn.15.0232009

By:

Özcan, Ümit Aksoy;
Ulus, Sıla;
Alanay, Yasemin;
Dinçer, Alp;
Yayla, Murat

Publication type:

Article

First trimester sonographic findings of alobar holoprosencephaly with cyclopia, proboscis, omphalocele, single ventricle in a fetus with trisomy 13.

Published in:

2014

By:

Yapar Eyi, Elif Gül;
Özkan, Şahin;
Salih, Fatma

Publication type:

Abstract

Amniosentez Yapılan Gebelerde Fetal İntrakardiak Ekojenik Odak.

Published in:

Perinatal Journal / Perinatoloji Dergisi, 2011, v. 19, n. 2, p. 51, doi. 10.2399/prn.11.0192001

By:

Taner, Cüneyt Eftal;
Altınboğa, Orhan;
Kayar, İlkan;
Kopuz, Aycan;
Telciler, Elif Üstünay

Publication type:

Article

Early diagnosis of trisomy 21, trisomy 18 and trisomy 13 using nuchal translucency thickness and ductus venosus blood flow waveform in West China.

Published in:

Molecular Medicine Reports, 2019, v. 19, n. 2, p. 1349

By:

Tang, Ying;
Luo, Hong;
Mu, Dezhi;
Yang, Taizhu;
Zhu, Qi;
Yang, Fan;
Liu, Guanjian

Publication type:

Article

Genotype/phenotype analysis in a male patient with partial trisomy 4p and monosomy 20q due to maternal reciprocal translocation (4;20): A case report.

Published in:

Molecular Medicine Reports, 2017, v. 16, n. 5, p. 6222, doi. 10.3892/mmr.2017.7390

By:

DONG WU;
HUI ZHANG;
QIAOFANG HOU;
HONGDAN WANG;
TAO WANG;
SHIXIU LIAO

Publication type:

Article

Clinical features and survival in individuals with trisomy 18: A retrospective one-center study of 44 patients who received intensive care treatments.

Published in:

Molecular Medicine Reports, 2016, v. 13, n. 3, p. 2457, doi. 10.3892/mmr.2016.4806

By:

GEORGE IMATAKA;
HIROSHI SUZUMURA;
OSAMU ARISAKA

Publication type:

Article

A patient with unusual features and a 69.5 Mb duplication from a de novo extra der (9): A case report.

Published in:

Molecular Medicine Reports, 2015, v. 12, n. 1, p. 155, doi. 10.3892/mmr.2015.3436

By:

YU-CHUN ZHOU;
CUI ZHANG;
JIN-SHENG ZHAI;
TIAN-FU LI;
QIU-YUE WU;
WEI-WEI LI;
NA LI;
XIAO-JUN LI;
YU-FENG HUANG;
YING-XIA CUI;
XIN-YI XIA

Publication type:

Article

Chronic Lymphocytic Leukemia with Divergent Richter's Transformation into a Clonally Related Classical Hodgkin's and Plasmablastic Lymphoma: A Case Report.

Published in:

Case Reports in Oncology, 2020, v. 13, n. 1, p. 120, doi. 10.1159/000505683

By:

Gasljevic, Gorana;
Grat, Mateja;
Kloboves Prevodnik, Veronika;
Grcar Kuzmanov, Biljana;
Gazic, Barbara;
Lovrecic, Luca;
Podgornik, Helena

Publication type:

Article

A Case of Partial Trisomy of Chromosome 8p Associated with Autism.

Published in:

Journal of Autism & Developmental Disorders, 2006, v. 36, n. 5, p. 705, doi. 10.1007/s10803-006-0104-3

By:

Papanikolaou, Katerina;
Paliokosta, Elena;
Gyftodimou, Jolanda;
Kolaitis, Gerassimos;
Vgenopoulou, Sofia;
Sarri, Catherine;
Tsiantis, John

Publication type:

Article

Extensive epigenetic reprogramming in human somatic tissues between fetus and adult.

Published in:

Epigenetics & Chromatin, 2011, v. 4, n. 1, p. 7, doi. 10.1186/1756-8935-4-7

By:

Yuen, Ryan K. C.;
Neumann, Sarah M. A.;
Fok, Alexandra K.;
Peñaherrera, Maria S.;
McFadden, Deborah E.;
Robinson, Wendy P.;
Kobor, Michael S.

Publication type:

Article

Detection Trisomy Chromosome 12 in Relation to the Expression Of Cd38 and Light Chain Restriction in Chronic Lymphocytic Leukemia Patients..

Published in:

Indian Journal of Forensic Medicine & Toxicology, 2021, v. 15, n. 2, p. 3019, doi. 10.37506/ijfmt.v15i2.14835

By:

Hashim, Hiba Hamid;
Abdulateef, Subeh Salim;
Menaf, Mazin Essa

Publication type:

Article