Works matching DE "MOSAICISM"

Results: 2286

ImprintCap, a powerful NGS-based technology to investigate the molecular background of imprinting disorders.

Published in:

Clinical Epigenetics, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s13148-025-01916-x

By:

Brioude, Frédéric;
Haagmans, Martin A.;
Mannens, Marcel;
Netchine, Irene;
Alders, Marielle;
Henneman, Peter;
Bliek, Jet

Publication type:

Article

Somatic Mosaic NLRC4 Variants in Autoinflammatory Diseases: Functional Characterization and Correlation of Mosaicism Levels with Disease Age of Onset and Severity.

Published in:

Journal of Clinical Immunology, 2025, v. 45, n. 1, p. 1, doi. 10.1007/s10875-025-01907-w

By:

Diab, Farah;
Louvrier, Camille;
Fabre, Marc;
Lin, Christine;
Rabbaa, Mira;
Assrawi, Eman;
Daskalopoulou, Aphrodite;
Mani, Rahma;
Dastot Le Moal, Florence;
Piterboth, William;
Legendre, Marie;
Amselem, Serge;
Karabina, Sonia Athina;
Giurgea, Irina

Publication type:

Article

What the VAF? A guide to the interpretation of variant allele fraction, percent mosaicism, and copy number in cancer.

Published in:

Molecular Cytogenetics (17558166), 2025, v. 18, n. 1, p. 1, doi. 10.1186/s13039-025-00718-3

By:

Smith, Adam C.;
Tsui, Hubert;
Usta, Sila;
Capo-Chichi, Jose-Mario

Publication type:

Article

Innovative all‐in‐one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10‐month experience.

Published in:

Andrology, 2025, v. 13, n. 5, p. 1078, doi. 10.1111/andr.13742

By:

Oud, Manon S.;
de Leeuw, Nicole;
Smeets, Dominique F. C. M.;
Ramos, Liliana;
van der Heijden, Godfried W.;
Timmermans, Raoul G. J.;
van de Vorst, Maartje;
Hofste, Tom;
Kempers, Marlies J. E.;
Stokman, Marijn F.;
D'Hauwers, Kathleen W. M.;
Faas, Brigitte H. W.;
Westra, Dineke

Publication type:

Article

The Vanishing Y Chromosome: What It Means for Men's Health.

Published in:: Indian Practitioner, 2025, v. 78, n. 6, p. 9
Publication type:: Article

Toward understanding sexual immune dimorphism in humans.

Published in:

Frontiers in Immunology, 2025, p. 1, doi. 10.3389/fimmu.2025.1570565

By:

Nowak, Tomasz J.;
Muehlenbein, Michael P.

Publication type:

Article

The hidden causes of pregnancy loss: a closer look.

Published in:

Journal of Translational Medicine, 2025, v. 23, n. 1, p. 1, doi. 10.1186/s12967-025-06678-x

By:

Shi, Panlai;
Wang, Conghui;
Liang, Hongbin;
Zhu, XiaoFan;
Wang, Xinyan;
Ning, Yanting;
Leigh, Don;
Cram, David S.;
Kong, Xiangdong

Publication type:

Article

High-resolution detection of copy number alterations in single cells with HiScanner.

Published in:

Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-60446-5

By:

Zhao, Yifan;
Luquette, Lovelace J.;
Veit, Alexander D.;
Wang, Xiaochen;
Xi, Ruibin;
Viswanadham, Vinayak V.;
Zhang, Yuwei;
Shao, Diane D.;
Walsh, Christopher A.;
Yang, Hong Wei;
Johnson, Mark D.;
Park, Peter J.

Publication type:

Article

Editorial on Genomic Mosaicism in Human Development and Diseases.

Published in:

2025

By:

Xi, Xincen;
Yang, Xiaoxu

Publication type:

Editorial

Phase Determination and Demonstration of Parental Mosaicism of Intragenic PRKN Deletions Initially Identified by Chromosomal Microarray Analysis.

Published in:

Genes, 2025, v. 16, n. 6, p. 630, doi. 10.3390/genes16060630

By:

Choate, Lauren A.;
Hoffman, Francis;
Newman, Jessica H.;
Runke, Cassandra;
Webley, Matthew;
Hoppman, Nicole L.;
Thorland, Erik C.

Publication type:

Article

Classification conundrums: categorizing chimeras and enacting species preservation.

Published in:

Theory & Society, 2010, v. 39, n. 2, p. 145, doi. 10.1007/s11186-009-9103-7

By:

Friese, Carrie

Publication type:

Article

Phase Coupling of a Circadian Neuropeptide With Rest/Activity Rhythms Detected Using a Membrane-Tethered Spider Toxin.

Published in:

PLoS Biology, 2008, v. 6, n. 11, p. e273, doi. 10.1371/journal.pbio.0060273

By:

Wu, Ying;
Cao, Guan;
Pavlicek, Beth;
Luo, Xuan;
Nitabach, Michael N.

Publication type:

Article

Confined placental mosaicism with trisomy 13 complicated by severe preeclampsia: A case report and literature review.

Published in:

Journal of Obstetrics & Gynaecology Research, 2024, v. 50, n. 9, p. 1737, doi. 10.1111/jog.16035

By:

Ito, Takaaki;
Takahashi, Hironori;
Horie, Kenji;
Nagayama, Shiho;
Ogoyama, Manabu;
Fujiwara, Hiroyuki

Publication type:

Article

Fetal mosaicism, should conventional karyotype always be performed?

Published in:

Journal of Obstetrics & Gynaecology Research, 2023, v. 49, n. 12, p. 2836, doi. 10.1111/jog.15804

By:

Su, Linjuan;
Wu, Xiaoqing;
Liang, Bin;
Lin, Na;
Xie, Xiaorui;
Cai, Meiying;
Zheng, Lin;
Wang, Meiying;
Xu, Liangpu

Publication type:

Article

Noninvasive prenatal testing suggesting an abnormality in chromosome 15 confirmed to be a case of Prader–Willi syndrome caused by trisomy rescue in the neonatal period.

Published in:

Journal of Obstetrics & Gynaecology Research, 2022, v. 48, n. 8, p. 2214, doi. 10.1111/jog.15236

By:

Okuda, Tomohiro;
Moroto, Masaharu;
Yamamoto, Toshiyuki

Publication type:

Article

Telomeric association between chromosomes Y and 19 in a mosaic Turner with primary ovarian insufficiency.

Published in:

Journal of Obstetrics & Gynaecology Research, 2019, v. 45, n. 11, p. 2293, doi. 10.1111/jog.14098

By:

Barnabas, Linda C.;
Shankar, Kundavi;
Kar, Bibhas

Publication type:

Article

New insights into the mechanisms underlying recurrent pregnancy loss.

Published in:

Journal of Obstetrics & Gynaecology Research, 2019, v. 45, n. 2, p. 258, doi. 10.1111/jog.13837

By:

Ewington, Lauren J.;
Tewary, Shreeya;
Brosens, Jan J.

Publication type:

Article

Mosaic male fetus of Turner syndrome with partial chromosome Y: A case report.

Published in:

2018

By:

Xue, Dan;
Cao, Dong‐hua;
Mu, Kai;
Lv, Yuan;
Yang, Jun

Publication type:

Case Study

Parental decisions following prenatal diagnosis of sex chromosome aneuploidy in Hong Kong.

Published in:

Journal of Obstetrics & Gynaecology Research, 2017, v. 43, n. 12, p. 1821, doi. 10.1111/jog.13451

By:

So, Po Lam;
Cheng, Kwun Yue Yvonne;
Cheuk, Kwan Yiu;
Chiu, Wan Kam;
Mak, Shui Lam;
Mok, Sau Lan;
Lo, Tsz Kin;
Yung, Wai Kuen;
Lo, Fai Man;
Chung, Hon Yin Brian;
Kan, Sik Yau Anita;
Lee, Chin Peng;
Tang, Hoi Yin Mary

Publication type:

Article

First trimester pregnancy loss: Clinical implications of genetic testing.

Published in:

Journal of Obstetrics & Gynaecology Research, 2017, v. 43, n. 1, p. 23, doi. 10.1111/jog.13179

By:

Massalska, Diana;
Zimowski, Janusz Grzegorz;
Bijok, Julia;
Pawelec, Magdalena;
Czubak‐Barlik, Małgorzata;
Jakiel, Grzegorz;
Roszkowski, Tomasz

Publication type:

Article

Live-born diploid fetus complicated with partial molar pregnancy presenting with pre-eclampsia, maternal anemia, and seemingly huge placenta: A rare case of confined placental mosaicism and literature review.

Published in:

Journal of Obstetrics & Gynaecology Research, 2016, v. 42, n. 8, p. 911, doi. 10.1111/jog.13025

By:

Kawasaki, Kaoru;
Kondoh, Eiji;
Minamiguchi, Sachiko;
Matsuda, Fumihiko;
Higasa, Koichiro;
Fujita, Kohei;
Mogami, Haruta;
Chigusa, Yoshitsugu;
Konishi, Ikuo

Publication type:

Article

Genetics beyond Mendel.

Published in:

Postgraduate Medicine, 2000, v. 108, n. 3, p. 131

By:

Wagstaff, Joseph

Publication type:

Article

Meningiomas and neurofibromatosis.

Published in:

Journal of Neuro-Oncology, 2010, v. 99, n. 3, p. 341, doi. 10.1007/s11060-010-0339-x

By:

Goutagny, Stéphane;
Kalamarides, Michel

Publication type:

Article

Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion.

Published in:

Chromosome Research, 2018, v. 26, n. 3, p. 191, doi. 10.1007/s10577-018-9578-z

By:

dos Santos, Alexsandro;
Campagnari, Francine;
Krepischi, Ana Cristina Victorino;
Ribeiro Câmara, Maria de Lourdes;
de Arruda Brasil, Rita de Cássia E.;
Vieira, Ligia;
Vianna-Morgante, Angela M.;
Otto, Paulo A.;
Pearson, Peter L.;
Rosenberg, Carla

Publication type:

Article

Mosaic variegated aneuploidy in mouse BubR1 deficient embryos and pregnancy loss in human.

Published in:

Chromosome Research, 2014, v. 22, n. 3, p. 375, doi. 10.1007/s10577-014-9432-x

By:

Schmid, Michael;
Steinlein, Claus;
Tian, Qi;
Hanlon Newell, Amy;
Gessler, Manfred;
Olson, Susan;
Rosenwald, Andreas;
Kneitz, Burkhard;
Fedorov, Lev

Publication type:

Article

Use of cross-species in-situ hybridization (ZOO-FISH) to assess chromosome abnormalities in day-6 in-vivo - or in-vitro -produced sheep embryos.

Published in:

Chromosome Research, 2007, v. 15, n. 3, p. 399, doi. 10.1007/s10577-007-1125-2

By:

Gianfranco Coppola;
Basil Alexander;
Dino Di Berardino;
Elizabeth St John;
Parvathi Basrur;
W. King

Publication type:

Article

Higher expression of fab antibody fragments in a CHO cell line at reduced temperature.

Published in:

Biotechnology & Bioengineering, 2003, v. 84, n. 4, p. 433, doi. 10.1002/bit.10793

By:

Simone M. Schatz;
Randolf J. Kerschbaumer;
Gabriele Gerstenbauer;
Martina Kral;
Friedrich Dorner;
Friedrich Scheiflinger

Publication type:

Article

An unusual observation of tetragametic chimerism: forensic aspects.

Published in:

2009

By:

Verdiani, S.;
Bonsignore, A.;
Casarino, L.;
Ferrari, G. M.;
Zia, S. C.;
Stefano, F. De

Publication type:

Report

One person with two DNA profiles: a(nother) case of mosaicism or chimerism.

Published in:

2009

By:

Castella, Vincent;
Lesta, Maria del Mar;
Mangin, Patrice

Publication type:

Report

Genomic mosaicism in colorectal cancer and polyposis syndromes: a systematic review and meta-analysis.

Published in:

International Journal of Colorectal Disease, 2024, v. 39, n. 1, p. 1, doi. 10.1007/s00384-024-04776-8

By:

de Moraes, Francisco Cezar Aquino;
Moretti, Nayara Rozalem;
Sano, Vitor Kendi Tsuchiya;
Ngan, Cristiane Wen Tsing;
Burbano, Rommel Mario Rodríguez

Publication type:

Article

Green fluorescent protein as a convenient and versatile marker for studies on functional genomics in Drosophila.

Published in:

Development Genes & Evolution, 2002, v. 212, n. 2, p. 93, doi. 10.1007/s00427-002-0210-y

By:

Nagel, Anja C.;
Maier, Dieter;
Preiss, Anette

Publication type:

Article

Clonality of Urogenital Organs as Determined by Analysis of Chimeric Mice.

Published in:

Cells Tissues Organs, 1999, v. 165, n. 2, p. 57, doi. 10.1159/000016675

By:

Lipschutz, Joshua H.;
Fukami, Hiroko;
Yamamoto, Masami;
Tatematsu, Masae;
Sugimura, Yoshiki;
Kusakabe, Moriaki;
Cunha, Gerald R.

Publication type:

Article

A Rare Cause of Male Infertility: Mixed Gonadal Dysgenesis.

Published in:

Endocrinology Research & Practice, 2024, v. 28, n. 2, p. 130, doi. 10.5152/erp.2024.23344

By:

Eroğlu, Ceren Erdoğan;
Görar, Süheyla;
Paksoy, Barış

Publication type:

Article

THRB Gene Mosaicism Confirmed by Next-Generation Sequencing in a Clinically Symptomatic Infant.

Published in:

JCEM Case Reports, 2024, v. 2, n. 5, p. 1, doi. 10.1210/jcemcr/luae075

By:

Cheng, Jenny Yeuk Ki;
Subramaniam, Shreenidhi Ranganatha;
Leung, Hoi Shan;
Wong, Sammy Wai Chun;
Kwok, Jeffrey Sung Shing;
Lam, Wai Kei Jacky

Publication type:

Article

Siblings With HNF4A Congenital Hyperinsulinism From Possible Parental Gonadal Mosaicism.

Published in:

JCEM Case Reports, 2023, v. 1, n. 4, p. 1, doi. 10.1210/jcemcr/luad089

By:

Wolschendorf, Robin;
Eimicke, Toni;
Swartz, Jonathan

Publication type:

Article

Implementation of circulating cell-free DNA screening for fetal aneuploidies.

Published in:

Advances in Laboratory Medicine / Avances en Medicina de Laboratorio, 2025, v. 6, n. 2, p. 135, doi. 10.1515/almed-2025-0055

By:

Madrigal Bajo, Irene;
Jodar Bifet, Meritxell;
Badenas Orquin, Celia

Publication type:

Article

No increase in the CTG repeat size during transmission from parent with expanded allele: false suspicion of contraction phenomenon.

Published in:

Advances in Laboratory Medicine / Avances en Medicina de Laboratorio, 2023, v. 4, n. 2, p. 185, doi. 10.1515/almed-2022-0079

By:

Goñi Ros, Nuria;
Sienes Bailo, Paula;
González Tarancón, Ricardo;
Martorell Sampol, Loreto;
Izquierdo Álvarez, Silvia

Publication type:

Article

Mosaic horizontal distributions of three species of copepods in the subarctic Pacific during spring.

Published in:

Marine Biology, 2000, v. 137, n. 4, p. 683, doi. 10.1007/s002270000338

By:

Tsuda, A.;
Sugisaki, H.

Publication type:

Article

The mosaic embryo: what it means for the doctor and the patient.

Published in:

Minerva Obstetrics & Gynecology, 2024, v. 76, n. 1, p. 89, doi. 10.23736/S2724-606X.23.05281-8

By:

GRECO, Ermanno;
GRECO, Pier F.;
LISTORTI, Ilaria;
RONSINI, Carlo;
CUCINELLI, Francesco;
BIRICIK, Anil;
VIOTTI, Manuel;
MESCHINO, Noemi;
SPINELLA, Francesca

Publication type:

Article

NEW GYNANDROMORPH RECORDS FOR CHIROCEPHALUS DIAPHANUS (BRANCHIOPODA, ANOSTRACA, CHIROCEPHALIDAE).

Published in:

Zoodiversity, 2021, v. 55, n. 6, p. 459, doi. 10.15407/zoo2021.06.459

By:

Rogers, D. C.;
Cottarelli, V.;
Marrone, F.

Publication type:

Article

Reply to: Is Gauchian genotyping of GBA1 variants reliable?

Published in:

Communications Biology, 2025, v. 8, n. 1, p. 1, doi. 10.1038/s42003-025-08060-5

By:

Toffoli, Marco;
Schapira, Anthony H. V.;
Sedlazeck, Fritz J.;
Proukakis, Christos

Publication type:

Article

The influence of the thymic environment on the CD4-versus-CD8 T lineage decision.

Published in:

Nature Immunology, 2003, v. 4, n. 8, p. 756, doi. 10.1038/ni953

By:

Canelles, Matilde;
Park, Melissa L.;
Schwartz, Owen M.;
Fowlkes, B. J.

Publication type:

Article

Down-regulation of diabetogenic CD4+ T cells by a soluble dimeric peptide-MHC class II chimera.

Published in:

Nature Immunology, 2002, v. 3, n. 4, p. 383, doi. 10.1038/ni770

By:

Casares, Sofia;
Hurtado, Alicia;
McEvoy, Robert C.;
Sarukhan, Adelaida;
von Boehmer, Harald;
Brumeanu, Teodor-Doru

Publication type:

Article

A Multi-Disciplinary Team Approach to Genomic Testing for Drug-Resistant Epilepsy Patients—The GENIE Study.

Published in:

Journal of Clinical Medicine, 2022, v. 11, n. 14, p. 4238, doi. 10.3390/jcm11144238

By:

Vadlamudi, Lata;
Bennett, Carmen Maree;
Tom, Melanie;
Abdulrasool, Ghusoon;
Brion, Kristian;
Lundie, Ben;
Aung, Hnin;
Lau, Chiyan;
Rodgers, Jonathan;
Riney, Kate;
Gordon, Louisa

Publication type:

Article

Clinical Outcomes of Single Mosaic Embryo Transfer: High-Level or Low-Level Mosaic Embryo, Does It Matter?

Published in:

Journal of Clinical Medicine, 2020, v. 9, n. 6, p. 1695, doi. 10.3390/jcm9061695

By:

Lin, Pin-Yao;
Lee, Chun-I;
Cheng, En-Hui;
Huang, Chun-Chia;
Lee, Tsung-Hsien;
Shih, Hui-Hsin;
Pai, Yi-Ping;
Chen, Yi-Chun;
Lee, Maw-Sheng

Publication type:

Article

Mosaic Expression of Thyroid Hormone Regulatory Genes Defines Cell Type-Specific Dependency in the Developing Chicken Cerebellum.

Published in:

Cerebellum, 2016, v. 15, n. 6, p. 710, doi. 10.1007/s12311-015-0744-y

By:

Delbaere, Joke;
Van Herck, Stijn;
Bourgeois, Nele;
Vancamp, Pieter;
Yang, Shuo;
Wingate, Richard;
Darras, Veerle

Publication type:

Article

SCA3: Neurological features, pathogenesis and animal models.

Published in:

Cerebellum, 2008, v. 7, n. 2, p. 125, doi. 10.1007/s12311-008-0013-4

By:

Riess, Olaf;
Rüb, Udo;
Pastore, Annalisa;
Bauer, Peter;
Schöls, Ludger

Publication type:

Article

Mosaicism for Receptor Tyrosine Kinase Activation in a Glioblastoma Involving Both PDGFRA Amplification and NTRK2 Fusion.

Published in:

Oncologist, 2021, v. 26, n. 11, p. 919, doi. 10.1002/onco.13835

By:

Shepherd, Daniel J.;
Miller, Tyler E.;
Forst, Deborah A.;
Jones, Pamela;
Nardi, Valentina;
Martinez‐Lage, Maria;
Stemmer‐Rachamimov, Anat;
Gonzalez, Ramon G.;
Iafrate, A. John;
Ritterhouse, Lauren L.

Publication type:

Article

Distinctively Different Phenotypes of Two Cases with a Rare Karyotype of 45,X/47,XYY Mosaicism: Case Report and Literature Review.

Published in:

Journal of Pediatric Research, 2022, v. 9, n. 4, p. 401, doi. 10.4274/jpr.galenos.2022.36539

By:

Köprülü, Özge;
Acar, Sezer;
Erdoğan, Kadri Murat;
Nalbantoğlu, Özlem;
Kırkgöz, Tarık;
Arslan, Gülçin;
Özkaya, Beyhan;
Kutbay, Yaşar Bekir;
Özkan, Behzat

Publication type:

Article

A methylation specific high-resolution melt assay for the detection of mosaicism in Fragile X Syndrome patients.

Published in:

New Zealand Journal of Medical Laboratory Science, 2020, v. 74, n. 2, p. 152

By:

van Dyk, Rachel;
Raizis, Tony

Publication type:

Article