Works matching DE "TRISOMY"

Results: 1437

Aneuploidy enables adaptation to brefeldin A in Candida albicans.

Published in:

Frontiers in Cellular & Infection Microbiology, 2025, p. 1, doi. 10.3389/fcimb.2025.1562726

By:

Wang, Weifang;
Wang, Chen;
Dong, Yubo;
Yang, Feng;
Xu, Yi

Publication type:

Article

Complete hydatidiform mole retaining a chromosome 11 of maternal origin: molecular genetic analysis of a case.

Published in:

Modern Pathology, 2004, v. 17, n. 9, p. 1155, doi. 10.1038/modpathol.3800175

By:

Fisher, Rosemary A.;
Nucci, Marisa R.;
Thaker, Harshwardhan M.;
Weremowicz, Stanislawa;
Genest, David R.;
Castrillon, Diego H.

Publication type:

Article

ETV6 Rearrangements in Patients with Infantile Fibrosarcomas and Congenital Mesoblastic Nephromas by Fluorescence In Situ Hybridization.

Published in:

Modern Pathology, 2001, v. 14, n. 12, p. 1246, doi. 10.1038/modpathol.3880469

By:

Adem, Camilo;
Gisselsson, David;
Dal Cin, Paola;
Nascimento, Antonio G.

Publication type:

Article

Management of a difficult airway in a child with partial trisomy 1 mosaic using the pediatric bonfils fiberscope.

Published in:

2010

By:

Laschat, Michael;
Kaufmann, Jost;
Wappler, Frank

Publication type:

Letter

Anesthesia in a child with 4p trisomy.

Published in:

2008

By:

Chevalier, Dair;
Mayhew, James F.

Publication type:

Letter

Caudal block complication in a patient with trisomy 13.

Published in:

2006

By:

Galante, Dario;
Pellico, Giuseppe

Publication type:

Letter

Reply.

Published in:

Pediatric Anesthesia, 2006, v. 16, n. 9, p. 1000, doi. 10.1111/j.1460-9592.2006.01949.x

By:

Cohen, Ira Todd

Publication type:

Article

Caudal block complication in a patient with trisomy 13.

Published in:

Pediatric Anesthesia, 2006, v. 16, n. 2, p. 213, doi. 10.1111/j.1460-9592.2005.01663.x

By:

Cohen, Ira Todd

Publication type:

Article

The iliac angle: a sonographic marker of trisomy 21 during the midtrimester: dependency of fetal lying?

Published in:

2003

By:

Massez, Anne;
Rypens, Françoise;
Metens, Thierry;
Donner, Catherine;
Avni, Fred E.;
Rypens, Françoise

Publication type:

journal article

Tectocerebellar dysraphia and occipital encephalocele associated with trisomy X: case report and review of the literature.

Published in:

2021

By:

Goulart, Lissa C.;
Ferreira-Filho, Luiz A.;
da Silva, Mariana M.;
Carneiro, Israel S. B.;
Carneiro, Siderley S.;
Vilela-Filho, Osvaldo

Publication type:

Case Study

Choroid plexus coagulation in trisomy 9 mosaic–related hydrocephalus—a case report.

Published in:

Child's Nervous System, 2020, v. 36, n. 8, p. 1803, doi. 10.1007/s00381-020-04643-1

By:

Kasper, Johannes;
Krause, Matthias;
Siekmeyer, Manuela;
Gräfe, Daniel;
Meixensberger, Jürgen;
Wilhelmy, Florian

Publication type:

Article

Letter to the Editor: Presentation of extrapontine myelinolysis associated with hypernatremia in an infant: a case report.

Published in:

2017

By:

Archer, Jacob;
Huff, Wei;
Jea, Andrew

Publication type:

Letter

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

Down syndrome: the brain in trisomic mode.

Published in:

Nature Reviews Neuroscience, 2012, v. 13, n. 12, p. 844, doi. 10.1038/nrn3314

By:

Dierssen, Mara

Publication type:

Article

Buphthalmos in trisomy 13.

Published in:

2005

By:

Bunting, R.;
Leitch, J.

Publication type:

Letter

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

Investigation of the diagnostic value of chromosome analysis and bacterial artificial chromosome-based array comparative genomic hybridization in prenatal diagnosis.

Published in:

Turkish Journal of Medical Sciences, 2015, v. 45, n. 6, p. 1263, doi. 10.3906/sag-1312-161

By:

SAVLI, Hakan;
EREN KESKİN, Seda;
ÇİNE, Naci

Publication type:

Article

Social Communication in Young Children With Sex Chromosome Trisomy (XXY, XXX, XYY): A Study With Eye Tracking and Heart Rate Measures.

Published in:

Archives of Clinical Neuropsychology, 2024, v. 39, n. 4, p. 482, doi. 10.1093/arclin/acad088

By:

Urbanus, Evelien;
Swaab, Hanna;
Tartaglia, Nicole;
Rijn, Sophie van

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

Misgivings.

Published in:

2009

By:

FARLOW, BARBARA

Publication type:

Essay

Duplication 17p11.2 (Potocki-Lupski Syndrome) in a child with developmental delay.

Published in:

Malaysian Journal of Pathology, 2017, v. 39, n. 1, p. 77

By:

SHUIB, Salwati;
SAAID, Nenny Noorina;
ZAKARIA, Zubaidah;
ISMAIL, Juriza;
ABDUL LATIFF, Zarina

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

Incomplete Trisomy Rescue Reveals the Mechanism Underlying Discordance Between Noninvasive Prenatal Screening and Prenatal Diagnosis.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 3, p. 1, doi. 10.1002/mgg3.70091

By:

Wang, Yanan;
Zhou, Yong;
Chai, Yuqiong;
Zang, Weiwei;
Wang, Hongchao;
Yin, Fan;
Tan, Qianqian;
Chen, Zhigang

Publication type:

Article

Application of various genetic analysis techniques for detecting two rare cases of 9p duplication mosaicism during prenatal diagnosis.

Published in:

2023

By:

Zhang, Sufen;
Zhou, Yuqiu;
Xiao, Gefei;
Qiu, Xianrong

Publication type:

Case Study

A rare unbalanced translocation (trisomy 5q33.3‐qter, monosomy 13q34‐qter) results in growth hormone deficiency and brain anomalies.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1821

By:

Joynt, Alyssa C. M.;
Deshwar, Ashish R.;
Zon, Jessica;
Dupuis, Lucie;
Wherrett, Diane K.;
Mendoza‐Londono, Roberto

Publication type:

Article

Next‐generation phenotyping in cat‐eye syndrome based on computer‐aided facial dysmorphology analysis of normal photographs.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 10, p. 1, doi. 10.1002/mgg3.1785

By:

Liehr, Thomas;
Fleischer, Nicole;
Al‐Rikabi, Ahmed

Publication type:

Article

Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 9, p. 1, doi. 10.1002/mgg3.1762

By:

Morán‐Barroso, Verónica Fabiola;
Cervantes, Alicia;
Rivera‐Vega, María del Refugio;
del Castillo‐Moreno, Adriana;
Moreno‐Chacón, Alejandra;
Mejía‐Cauich, Estefanía;
Contreras‐Ortiz, Laura Eréndira;
Fernández‐Ramírez, Fernando

Publication type:

Article

Identification of paternal uniparental disomy on chromosome 22 and a de novo deletion on chromosome 18 in individuals with orofacial clefts.

Published in:

Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 6, p. 924, doi. 10.1002/mgg3.459

By:

Oseni, Ganiyu O.;
Jain, Deepti;
Mossey, Peter A.;
Busch, Tamara D.;
Gowans, Lord J.J.;
Eshete, Mekonen A.;
Adeyemo, Wasiu L.;
Laurie, Cecelia A.;
Laurie, Cathy C.;
Owais, Arwa;
Olaitan, Peter B.;
Aregbesola, Babatunde S.;
Oginni, Fadekemi O.;
Bello, Saidu A.;
Donkor, Peter;
Audu, Rosemary;
Onwuamah, Chika;
Obiri‐Yeboah, Solomon;
Plange‐Rhule, Gyikua;
Ogunlewe, Olugbenga M.

Publication type:

Article

The maternal uniparental disomy of chromosome 6 (upd(6)mat) 'phenotype': result of placental trisomy 6 mosaicism?

Published in:

Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 6, p. 668, doi. 10.1002/mgg3.324

By:

Eggermann, Thomas;
Oehl‐Jaschkowitz, Barbara;
Dicks, Severin;
Thomas, Wolfgang;
Kanber, Deniz;
Albrecht, Beate;
Begemann, Matthias;
Kurth, Ingo;
Beygo, Jasmin;
Buiting, Karin

Publication type:

Article

EP07.05: A case of double Trisomy (T21 and T18).

Published in:

Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 221, doi. 10.1002/uog.19882

By:

Yulia, A.;
Vendola, M.;
Wimalasundera, R.

Publication type:

Article

Re: Low-molecular-weight heparin associated with reduced fetal fraction and subsequent false- negative cell-free DNA test result for trisomy 21.

Published in:

2018

By:

Dabi, Y.;
Benachi, A.;
Costa, J.‐M.;
Costa, J-M

Publication type:

Letter

Low-molecular-weight heparin associated with reduced fetal fraction and subsequent false-negative cell-free DNA test result for trisomy 21.

Published in:

2018

By:

Lee, M.‐H.;
Lee, M-H;
Ma, G.‐C.;
Ma, G-C;
Chen, M.;
Wu, W.‐J.;
Wu, W-J;
Lee, Mei-Hui;
Ma, Gwo-Chin;
Wu, Wan-Ju;
Chen, Ming;
Lin, Y.‐S.;
Lin, Yi-Shing;
Lin, Y-S

Publication type:

Letter

EP06.07: Sonographic features of Trisomy 13 at 11-13 weeks of gestation.

Published in:

Ultrasound in Obstetrics & Gynecology, 2017, v. 50, p. 285, doi. 10.1002/uog.18411

By:

Nakamura, Y.;
Song, M.;
Fujita, S.;
Kurata, Y.;
Arakawa, H.;
Tamura, C.

Publication type:

Article

EP06.16: Preliminary study on the consequences of the implementation of the DNAf technique for the screening of Trisomy 21 in a hospital of the public network of Madrid, Spain.

Published in:

Ultrasound in Obstetrics & Gynecology, 2017, v. 50, p. 287, doi. 10.1002/uog.18420

By:

Martínez-Payo, C.;
Bada Bosch, I.;
Nieto Jimenez, Y.;
Ruiz de Azúa Ballesteros, M.;
Gomez Manrique, A.;
Arranz F., A.;
Pérez Medina, T.

Publication type:

Article

EP06.18: Current prenatal screening efficacy of Trisomy 21, 18 13 in the Taiwan: a 6-year national registry study.

Published in:

Ultrasound in Obstetrics & Gynecology, 2017, v. 50, p. 288, doi. 10.1002/uog.18422

By:

Hsiao, C.;
Chen

Publication type:

Article

EP06.19: Discordant NIPT in a pregnant women with breast cancer.

Published in:

Ultrasound in Obstetrics & Gynecology, 2017, v. 50, p. 288, doi. 10.1002/uog.18423

By:

Moore, P.;
Lipchak, R.;
Perez, A.;
Valenzuela, M.;
Jahnes, J.;
Frez, J.

Publication type:

Article

EP06.20: Choroid plexus morphology and size anomalies: a Trisomy 22 feature?

Published in:

Ultrasound in Obstetrics & Gynecology, 2017, v. 50, p. 288, doi. 10.1002/uog.18424

By:

Martins, M.M.;
Caldas, R.;
Cunha, S.;
Costa, C.;
Gameiro, M.;
Rasteiro, C.

Publication type:

Article

Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis.

Published in:

2017

By:

Gil, M. M.;
Accurti, V.;
Santacruz, B.;
Plana, M. N.;
Nicolaides, K. H.

Publication type:

journal article

Sphenofrontal distance in euploid and aneuploid fetuses.

Published in:

2017

By:

Abele, H.;
Sonek, J.;
Goldschmid, D.;
Wagner, P.;
Hoopmann, M.;
Kagan, K. O.

Publication type:

journal article

Rate of no result in cell‐free DNA testing and its influence on test performance metrics.

Published in:

Ultrasound in Obstetrics & Gynecology, 2017, v. 50, n. 1, p. 134, doi. 10.1002/uog.17330

By:

Grati, F. R.;
Kagan, K. O.

Publication type:

Article

Validation of combinatorial probe–anchor ligation‐based sequencing as non‐invasive prenatal test for trisomy at a central laboratory.

Published in:

Ultrasound in Obstetrics & Gynecology, 2017, v. 50, n. 1, p. 49, doi. 10.1002/uog.16010

By:

Ma, J.;
Wang, Y.;
Wang, W.;
Dong, Y.;
Xu, C.;
Zhou, A.;
Xu, Z.;
Wu, Z.;
Tang, X.;
Chen, F.;
Yin, Y.;
Yan, M.;
Zhang, W.;
Mu, F.;
Yang, H.

Publication type:

Article

Validation of combinatorial probe-anchor ligation-based sequencing as non-invasive prenatal test for trisomy at a central laboratory.

Published in:

Ultrasound in Obstetrics & Gynecology, 2017, v. 50, n. 1, p. 49, doi. 10.1002/uog.16010

By:

Ma, J.;
Wang, Y.;
Wang, W.;
Dong, Y.;
Xu, C.;
Zhou, A.;
Xu, Z.;
Wu, Z.;
Tang, X.;
Chen, F.;
Yin, Y.;
Yan, M.;
Zhang, W.;
Mu, F.;
Yang, H.

Publication type:

Article

Rate of no result in cell-free DNA testing and its influence on test performance metrics.

Published in:

2017

By:

Grati, F. R.;
Kagan, K. O.

Publication type:

Letter

Impact of holoprosencephaly, exomphalos, megacystis and increased nuchal translucency on first-trimester screening for chromosomal abnormalities.

Published in:

2017

By:

Syngelaki, A.;
Guerra, L.;
Ceccacci, I.;
Efeturk, T.;
Nicolaides, K. H.

Publication type:

journal article

Performance of the neoBona test: a new paired-end massively parallel shotgun sequencing approach for cell-free DNA-based aneuploidy screening.

Published in:

2017

By:

Cirigliano, V.;
Ordoñez, E.;
Rueda, L.;
Syngelaki, A.;
Nicolaides, K. H.;
Ordoñez, E

Publication type:

journal article

Aneuploidy screening by non-invasive prenatal testing in twin pregnancy.

Published in:

2017

By:

Fosler, L.;
Winters, P.;
Jones, K. W.;
Curnow, K. J.;
Sehnert, A. J.;
Bhatt, S.;
Platt, L. D.

Publication type:

journal article

First-trimester screening for trisomies 18 and 13, triploidy and Turner syndrome by detailed early anomaly scan.

Published in:

2016

By:

Wagner, P.;
Sonek, J.;
Hoopmann, M.;
Abele, H.;
Kagan, K. O.

Publication type:

journal article

Abstracts of the 26th World Congress on Ultrasound in Obstetrics and Gynecology, Rome, Italy, 24-28 September 2016.

Published in:

2016

By:

Scala, C.;
Racca, A.;
Leone Roberti Maggiore, U.;
D'Antonio, F.;
Ferrero, S.;
Khalil, A.

Publication type:

journal article

P11.09: Are genetic findings always responsible for fetal sonographic findings?

Published in:

Ultrasound in Obstetrics & Gynecology, 2016, v. 48, p. 200, doi. 10.1002/uog.16600

By:

Martínez-Payo, C.;
Nieto Jimenez, Y.;
Garcia, M.;
Mansilla, E.;
Mori, M.

Publication type:

Article

EP09.02: Our experience with the first 464 NIPT tests for detecting the most common Trisomies in combination with other prenatal tests.

Published in:

2016

By:

Res Muravec, U.;
Strah, D.M.;
Ovnicek, P.;
BernikK, J.

Publication type:

journal article