Works matching DE "MOSAICISM"

Results: 2262

Author Correction: Huntington's disease cellular phenotypes are rescued non-cell autonomously by healthy cells in mosaic telencephalic organoids.

Published in:

2025

By:

Galimberti, Maura;
Nucera, Maria R.;
Bocchi, Vittoria D.;
Conforti, Paola;
Vezzoli, Elena;
Cereda, Matteo;
Maffezzini, Camilla;
Iennaco, Raffaele;
Scolz, Andrea;
Falqui, Andrea;
Cordiglieri, Chiara;
Cremona, Martina;
Espuny-Camacho, Ira;
Faedo, Andrea;
Felsenfeld, Dan P.;
Vogt, Thomas F.;
Ranzani, Valeria;
Zuccato, Chiara;
Besusso, Dario;
Cattaneo, Elena

Publication type:

Correction Notice

Pallister-Killian Syndrome: A Case Report of Neonatal Pathogenic Tetrasomy 12p Associated with Congenital QT Prolongation and Multisystem Involvement.

Published in:

Neonatology Today, 2025, v. 20, n. 4, p. 197

By:

Hua Wang

Publication type:

Article

Utilizing Long-Read Sequencing for Haplotype Construction and Prevention of Autosomal Dominant Polycystic Kidney Disease Transmission in Mosaicism Family.

Published in:

DNA & Cell Biology, 2025, v. 44, n. 5, p. 238, doi. 10.1089/dna.2024.0280

By:

Zubo, Wu;
Liu, Jie;
Liu, Yi;
Wang, Xiaoli;
Shu, Defeng

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

Assessment of Temporal Effects of Electroporation on CRISPR/Cas-Driven Gene Modifications in Buffalo Embryos.

Published in:

Archives of Veterinary Science, 2025, v. 30, n. 1, p. 1, doi. 10.5380/avs.v30i1.96964

By:

Sardar, Dipankar;
Hossain, Md Taslim;
Habib, Adnan

Publication type:

Article

Ustekinumab is effective in the treatment of linear psoriasis: a case report and literature review.

Published in:

Frontiers in Immunology, 2025, p. 1, doi. 10.3389/fimmu.2025.1553793

By:

Qi, Jinxu;
Zhu, Qing;
Feng, Mengdi;
Liu, Lijuan;
Zhang, Guoqiang

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

Preimplantation genetic testing for aneuploidy (PGT‐A): The biology, the technology and the clinical outcomes.

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2019, v. 59, n. 2, p. 317, doi. 10.1111/ajo.12960

By:

Homer, Hayden Anthony

Publication type:

Article

A study of structural properties of gene network graphs for mathematical modeling of integrated mosaic gene networks.

Published in:

Journal of Bioinformatics & Computational Biology, 2017, v. 15, n. 2, p. -1, doi. 10.1142/S0219720016500451

By:

Petrovskaya, Olga V.;
Petrovskiy, Evgeny D.;
Lavrik, Inna N.;
Ivanisenko, Vladimir A.

Publication type:

Article

Sequence characterized amplified region markers tightly linked to the dwarf mosaic resistance gene mdm1 (t) in maize ( Zea mays L.).

Published in:

Euphytica, 2010, v. 174, n. 2, p. 219, doi. 10.1007/s10681-010-0120-4

By:

Cuixia Sun;
Guangming Zhang;
Meng Li;
Xiaopeng Wang;
Guodong Zhang;
Yanchen Tian;
Zeli Wang

Publication type:

Article

Generation means analysis ofwheat streak mosaicvirus resistance in winter wheat.

Published in:

Euphytica, 2004, v. 139, n. 2, p. 133, doi. 10.1007/s10681-004-2490-y

By:

Hakizimana, Frederick;
Ibrahim, Amir M.H.;
Langham, Marie A.C.;
Rudd, Jackie C.;
Haley, Scott D.

Publication type:

Article

New source of resistance to mosaic virus transmission by Aphis gossypii in melon.

Published in:

Euphytica, 2003, v. 133, n. 3, p. 313, doi. 10.1023/A:1025721329026

By:

Soria, C.;
Moriones, E.;
Fereres, A.;
Garzo, E.;
Gómez-Guillamén, M.L.

Publication type:

Article

A Novel Mucosal Vaccine Against Foot-and-Mouth Disease Virus Induces Protection in Mice and Swine.

Published in:

Biotechnology Letters, 2005, v. 27, n. 21, p. 1669, doi. 10.1007/s10529-005-2727-4

By:

Houhui Song;
Zhiliang Wang;
Dongxia Zheng;
Weihuan Fang;
Yong Li;
Yueyong Liu;
Zhendong Niu;
Bingsheng Qiu

Publication type:

Article

Inhibition of Platelet Aggregation of a Mutant Proinsulin Chimera Engineered by Introduction of a Native Lys-Gly-Asp-containing Sequence.

Published in:

Biotechnology Letters, 2005, v. 27, n. 17, p. 1259, doi. 10.1007/s10529-005-3202-y

By:

Jian Jing;
Shan Lu

Publication type:

Article

Chimeras and Human Dignity.

Published in:: Kennedy Institute of Ethics Journal, 2008, v. 18, n. 4, p. 331, doi. 10.1353/ken.0.0268
Publication type:: Article

Melorheostosis: a review of 23 cases.

Published in:

2001

By:

Freyschmidt, J.

Publication type:

journal article

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

Somatosensory reflex seizures in a child with epilepsy related to novel SCN1A mutation.

Published in:

Child's Nervous System, 2017, v. 33, n. 4, p. 677, doi. 10.1007/s00381-016-3297-6

By:

Arican, Pinar;
Dundar, Nihal;
Cavusoglu, Dilek;
Ozdemır, Taha;
Gencpinar, Pinar

Publication type:

Article

Synthesis of novel MMT/acyl-protected nucleo alanine monomers for the preparation of DNA/alanyl-PNA chimeras.

Published in:

Amino Acids, 2010, v. 38, n. 5, p. 1301, doi. 10.1007/s00726-009-0324-x

By:

Roviello, G. N.;
Gröschel, S.;
Pedone, C.;
Diederichsen, U.

Publication type:

Article

Mosaicism diminishes the value of pre-implantation embryo biopsies for detecting CRISPR/Cas9 induced mutations in sheep.

Published in:

Transgenic Research, 2018, v. 27, n. 6, p. 525, doi. 10.1007/s11248-018-0094-x

By:

Vilarino, Marcela;
Suchy, Fabian Patrik;
Rashid, Sheikh Tamir;
Lindsay, Helen;
Reyes, Juan;
McNabb, Bret Roberts;
van der Meulen, Talitha;
Huising, Mark O.;
Nakauchi, Hiromitsu;
Ross, Pablo Juan

Publication type:

Article

Questioning 'voice' and silence: Exploring creative and participatory approaches to researching with children through a Reggio Emilian lens.

Published in:

Qualitative Research, 2025, v. 25, n. 1, p. 3, doi. 10.1177/14687941241234299

By:

Chicken, Sarah;
Tur Porres, Gisselle;
Mannay, Dawn;
Parnell, Jade;
Tyrie, Jacky

Publication type:

Article

The chimaeras speak again.

Published in:

Nature, 1993, v. 366, n. 6454, p. 409, doi. 10.1038/366409a0

By:

Caron, Marc G.

Publication type:

Article

Assessment of maize-cowpea intercropping response to row orientation in diverse agro-ecologies of Côte d'Ivoire.

Published in:

Discover Agriculture, 2024, v. 2, n. 1, p. 1, doi. 10.1007/s44279-024-00025-2

By:

Coulibaly, Yaya Nadiala;
Tondoh, Ebagnerin Jérôme;
Bonny, Béket Séverin;
Neya, Bouma James;
Koffi, Kouamé Kevin;
Bi, Irié Arsène Zoro

Publication type:

Article

Recombinant N-Domain of Pregnancy-Specific Glycoprotein from E. coli Cells: Analysis of the Spectrum of Polyclonal Antibodies.

Published in:

Bulletin of Experimental Biology & Medicine, 2015, v. 160, n. 1, p. 76, doi. 10.1007/s10517-015-3102-7

By:

Prokopenko, P.;
Shkoporov, A.;
Petrenko, O.;
Efimov, B.;
Negrebetskii, V.;
Terent'ev, A.

Publication type:

Article

The presence of multinucleated blastomeres in human embryos is correlated with chromosomal abnormalities.

Published in:

1996

By:

Kligman, I;
Benadiva, C;
Alikani, M;
Munne, S

Publication type:

journal article

The human zygote inherits its mitotic potential from the male gamete.

Published in:

1994

By:

Palermo, Gianpiero;
Munné, Santiago;
Cohen, Jacques;
Palermo, G;
Munné, S;
Cohen, J

Publication type:

journal article

Chromosome investigations in early life. II. Human preimplantation embryos.

Published in:

1987

By:

Plachot, Michelle;
Junca, Anne-Marie;
Mandelbaum, Jacqueline;
de Grouchy, J.;
Salat-Baroux, J.;
Cohen, J.;
Plachot, M;
Junca, A M;
Mandelbaum, J

Publication type:

journal article

A rat model of a focal mosaic expression of PCDH19 replicates human brain developmental abnormalities and behaviours.

Published in:

Brain Communications, 2022, v. 4, n. 3, p. 1, doi. 10.1093/braincomms/fcac091

By:

Cwetsch, Andrzej W.;
Ziogas, Ilias;
Narducci, Roberto;
Savardi, Annalisa;
Bolla, Maria;
Pinto, Bruno;
Perlini, Laura E.;
Bassani, Silvia;
Passafaro, Maria;
Cancedda, Laura

Publication type:

Article

Chimera Contemporary: The Enduring Art of the Composite Beast.

Published in:

Leonardo, 2004, v. 37, n. 4, p. 332, doi. 10.1162/0024094041724472

By:

Powell, Dave

Publication type:

Article

First Somatic PRKAR1A Defect Associated With Mosaicism for Another PRKAR1A Mutation in a Patient With Cushing Syndrome.

Published in:

Journal of the Endocrine Society, 2021, v. 5, n. 4, p. 1, doi. 10.1210/jendso/bvab007

By:

Kamilaris, Crystal D C;
Faucz, Fabio R;
Andriessen, Victoria C;
Nilubol, Naris;
Lee, Chyi-Chia Richard;
Ahlman, Mark A;
Hannah-Shmouni, Fady;
Stratakis, Constantine A

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

Unusual Presentation of Kelley-Seegmiller Syndrome.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2008, v. 27, n. 6/7, p. 648, doi. 10.1080/15257770802143863

By:

Sebesta, I.;
StibÅrková, B.;
Dvorakova, L.;
Hrebicek, M.;
Minks, J.;
Stolnaja, L.;
Vernerova, Z.;
Rychlik, I.

Publication type:

Article

TARGETING OF A701G NUCLEOTIDE AT THE HUMAN ATP1A1 LOCUS USING A RNA/DNA CHIMERA.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2002, v. 21, n. 11/12, p. 775, doi. 10.1081/NCN-120016480

By:

Cervelli, Tiziana;
Lombardi, Grazia;
Citti, Lorenzo;
Galli, Alvaro;
Locci, Maria Teresa;
Rainaldi, Giuseppe

Publication type:

Article

PRO-OLIGONUCLEOTIDE SYNTHESIS USING ALLYL AND ALLYLOXYCARBONYL PROTECTIONS: DIRECT MALDI-TOF MS ANALYSIS ON SOLID SUPPORT.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2001, v. 20, n. 4-7, p. 947, doi. 10.1081/NCN-100002465

By:

Spinelli, N.;
Vasseur, J.-J.;
Hayakawa, Y.;
Imbach, J.-L.

Publication type:

Article

EFFECT OF SUBSTITUTING ARABINONUCLEOSIDES FOR DEOXYNUCLEOTIDES IN THE DNA PRIMING STRAND ON THE POLYMERASE ACTION OF HIV-1 RT.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2001, v. 20, n. 4-7, p. 1205, doi. 10.1081/NCN-100002520

By:

Noronha, AnneM.;
Arion, Dominique;
Parniak, MichaelA.;
Damha, MasadJ.

Publication type:

Article

Prenatal diagnosis of Sex determining region Y-box transcription factor 2 anophthalmia syndrome caused by germline mosaicism using next-generation sequencing: A case report.

Published in:

International Journal of Reproductive Biomedicine, 2023, v. 21, n. 8, p. 667, doi. 10.18502/ijrm.v21i8.14022

By:

Nikuei, Pooneh;
Khashavy, Zahra;
Fard, Mohammad Ali Farazi;
Tabasi, Shahrzad;
Zeidi, Ari;
Pourkashani, Parnian;
Tabatabaei, Zahra;
Eftekhar, Ebrahim;
Saberi, Mozhgan;
Mahjoubi, Frouzandeh

Publication type:

Article

Production of Chimeric Cattle Embryos by Reaggregation of Blastomeres Obtained from Day 4 Bovine Embryos.

Published in:

Turkish Journal of Veterinary & Animal Sciences, 2004, v. 28, n. 3, p. 623

By:

Sagirkaya, Hakan

Publication type:

Article

Molecular Analysis of the Causes of Down Syndrome in a Family.

Published in:

Biochemistry & Molecular Biology Education, 2005, v. 33, n. 5, p. 369, doi. 10.1002/bmb.2005.49403305369

By:

Szeberenyi, Jozsef

Publication type:

Article

Prenatal Diagnosis and Genetic Counselling in Turner Syndrome: Case Report and Literature Review.

Published in:

Medicina Moderna, 2018, v. 25, n. 3, p. 107

By:

Tudor, Viorica;
Velicu, Octavia;
Mitran, Mihai;
Bratila, Elvira;
Severin, Emilia

Publication type:

Article

Stem Cell Politics: The NAS Prohibitions Pack More Bark Than Bite.

Published in:

2005

By:

Robert, Jason Scott;
Baylis, Françoise

Publication type:

Essay

Developmental conversion of thymocyte-attracting cells into self-antigen-displaying cells in embryonic thymus medulla epithelium.

Published in:

eLife, 2024, p. 1, doi. 10.7554/eLife.92552

By:

Izumi Ohigashi;
White, Andrea J.;
Mei-Ting Yang;
Sayumi Fujimori;
Yu Tanaka;
Jacques, Alison;
Hiroshi Kiyonari;
Yosuke Matsushita;
Turan, Sevilay;
Kelly, Michael C.;
Anderson, Graham;
Yousuke Takahama

Publication type:

Article

Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex "No Mutations Identified" Cohort.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 10, p. 1, doi. 10.1002/mgg3.70017

By:

Chung, Clara W. T.;
Bournazos, Adam M.;
Chan, Lok Chi Denise;
Sarkozy, Vanessa;
Lawson, John;
Kennedy, Sean E.;
Cooper, Sandra T.;
Kirk, Edwin P.;
Mowat, David

Publication type:

Article

Parental mosaicism rather than de novo variants in FOXG1‐related syndrome and TUBA1A‐associated Tubulinopathy: Familial case reports.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 6, p. 1, doi. 10.1002/mgg3.2484

By:

Tang, Hai Xuan;
Lu, Y‐Thanh;
Ha, Thi Minh Thi;
Tran, Nhat‐Thang;
Dang, Doan Minh;
Ly, Son Xuan;
Bui, Thu Ha Thi;
Vo, Son Ta;
Thai, Minh Doan;
Nguyen, Vu Dinh;
Nguyen, Thong Van;
Dinh, Linh Thuy;
Luong, Lan‐Anh Thi;
Doan, Kim‐Phuong;
Nguyen, Kim Huong Thi;
Do, Thanh‐Thuy Thi;
Truong, Dinh‐Kiet;
Giang, Hoa;
Nguyen, Hoai‐Nghia;
Trinh, Thu Huong Nhut

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

Detection of gonosomal mosaicism by ultra‐deep sequencing and droplet digital PCR in patients with Emery–Dreifuss muscular dystrophy.

Published in:

2023

By:

Xie, Yanshu;
Luo, Jingsi;
Zhong, Jingzi;
Liu, Xu;
Tang, Jing;
Lan, Dan

Publication type:

Case Study

Two sisters with cardiac‐urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism?

Published in:

2023

By:

Slaba, Katerina;
Jezova, Marta;
Pokorna, Petra;
Palova, Hana;
Tuckova, Jana;
Papez, Jan;
Prochazkova, Dagmar;
Jabandziev, Petr;
Slaby, Ondrej

Publication type:

Case Study

High‐level gonosomal mosaicism for a pathogenic non‐coding CNV deletion of the lung‐specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV.

Published in:

2022

By:

Yıldız Bölükbaşı, Esra;
Karolak, Justyna A.;
Szafranski, Przemyslaw;
Gambin, Tomasz;
Willard, Nicholas;
Abman, Steven H.;
Galambos, Csaba;
Kinsella, John P.;
Stankiewicz, Paweł

Publication type:

Case Study

Atypical presentation of Angelman syndrome with intact expressive language due to low‐level mosaicism.

Published in:

2022

By:

Punatar, Ruchi;
Egense, Alena;
Mao, Rong;
Procter, Melinda;
Bosworth, Michelle;
Quigley, Denise I.;
Angkustsiri, Kathleen;
Shankar, Suma P.

Publication type:

Case Study

Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1880

By:

Frisk, Sofia;
Wachtmeister, Alexandra;
Laurell, Tobias;
Lindstrand, Anna;
Jäntti, Nina;
Malmgren, Helena;
Lagerstedt‐Robinson, Kristina;
Tesi, Bianca;
Taylan, Fulya;
Nordgren, Ann

Publication type:

Article

Infantile‐onset CMT2D/dSMA‐V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 1, p. 1, doi. 10.1002/mgg3.1846

By:

Huang, Yufeng;
Bi, Bo;
Zhao, Peiwei;
Yu, Ting;
Luo, Sukun;
Tan, Li;
Liu, Zhisheng;
Liu, Jie;
He, Xuelian

Publication type:

Article