Works matching DE "MOSAICISM"

Results: 2268

Three-dimensional tissue engineered skeletal muscle modelling facioscapulohumeral muscular dystrophy.

Published in:

Brain: A Journal of Neurology, 2025, v. 148, n. 5, p. 1723, doi. 10.1093/brain/awae379

By:

Franken, Marnix;
van der Wal, Erik;
Zheng, Dongxu;
Hamer, Bianca den;
Vliet, Patrick J van der;
Lemmers, Richard J L F;
van den Heuvel, Anita;
Dorn, Alexandra L;
Duivenvoorden, Cas G A;
Groen, Stijn L M in 't;
Freund, Christian;
Eussen, Bert;
Tawil, Rabi;
Engelen, Baziel G M van;
Pijnappel, W W M Pim;
Maarel, Silvère M van der;
Greef, Jessica C de

Publication type:

Article

The Competitive Loss of Cerebellar Granule and Purkinje Cells Driven by X-Linked Mosaicism in a Female Mouse Model of CASK-Related Disorders.

Published in:

Cells (2073-4409), 2025, v. 14, n. 10, p. 735, doi. 10.3390/cells14100735

By:

Mori, Takuma;
Zhou, Mengyun;
Kunugitani, Ken;
Akatsuka, Taichi;
Yoshida, Yukina;
Kouyama-Suzuki, Emi;
Kobayashi, Shin;
Shirai, Yoshinori;
Tabuchi, Katsuhiko

Publication type:

Article

Phenotypic Spectrum of GNA11R183C Mosaicism.

Published in:

Pediatric Dermatology, 2025, v. 42, n. 3, p. 475, doi. 10.1111/pde.15802

By:

Zhang, Donglin;
Sánchez‐Espino, Luis Fernando;
Ivars, Marta;
Pope, Elena;
Nopper, Amy J.;
Arkin, Lisa M.;
Tollefson, Megha M.;
Lavarino, Cinzia E.;
Muldowney, Maya;
Olaciregui, Nagore Gené;
Paco, Sonia;
Drolet, Beth A.;
Baselga, Eulàlia

Publication type:

Article

Primate Tales: Interspecies Pregnancy and Chimerical Beings.

Published in:

2008

By:

Ferreira, Aline

Publication type:

Essay

Time-lapse analysis of embryos classified as euploid, mosaic, and aneuploid after embryonic trophectoderm biopsy.

Published in:

Journal of Assisted Reproduction & Genetics, 2025, v. 42, n. 1, p. 125, doi. 10.1007/s10815-024-03364-7

By:

Listorti, Ilaria;
Pirastu, Giulia;
Ruberti, Alessandra;
Barberi, Marzia;
Pristerà, Andrea;
Zazzaro, Vincenzo;
Spinella, Francesca;
Varricchio, Maria Teresa;
Viotti, Manuel;
Greco, Ermanno;
Greco, Pierfrancesco

Publication type:

Article

Mechanism of chromosomal mosaicism in preimplantation embryos and its effect on embryo development.

Published in:

Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 5, p. 1127, doi. 10.1007/s10815-024-03048-2

By:

Zhang, Xue;
Zheng, Peng-Sheng

Publication type:

Article

PGT-A mosaicism based on NGS intermediate copy numbers: is it time to stop reporting them?

Published in:

Journal of Assisted Reproduction & Genetics, 2023, v. 40, n. 12, p. 2925, doi. 10.1007/s10815-023-02936-3

By:

Campos, Gerard

Publication type:

Article

Factors associated with embryo mosaicism: a systematic review and meta-analysis.

Published in:

Journal of Assisted Reproduction & Genetics, 2023, v. 40, n. 10, p. 2317, doi. 10.1007/s10815-023-02914-9

By:

Cascales, A;
Morales, R;
Castro, A;
Ortiz, JA;
Lledo, B;
Ten, J;
Bernabeu, A;
Bernabeu, R

Publication type:

Article

PGT-A: Houston, we have a problem.

Published in:

Journal of Assisted Reproduction & Genetics, 2023, v. 40, n. 10, p. 2325, doi. 10.1007/s10815-023-02913-w

By:

Casper, Robert F.

Publication type:

Article

The effect of carrier characteristics and female age on preimplantation genetic testing results of blastocysts from Robertsonian translocation carriers.

Published in:

Journal of Assisted Reproduction & Genetics, 2023, v. 40, n. 8, p. 1995, doi. 10.1007/s10815-023-02853-5

By:

Dang, Tongyuan;
Xie, Pingyuan;
Zhang, Zhiqi;
Hu, Liang;
Tang, Yi;
Tan, Yueqiu;
Luo, Keli;
Gong, Fei;
Lu, Guangxiu;
Lin, Ge

Publication type:

Article

The origin and possible mechanism of embryonic cell-free DNA release in spent embryo culture media: a review.

Published in:

Journal of Assisted Reproduction & Genetics, 2023, v. 40, n. 6, p. 1231, doi. 10.1007/s10815-023-02813-z

By:

Handayani, Nining;
Aubry, Daniel;
Boediono, Arief;
Wiweko, Budi;
Sirait, Batara;
Sini, Ivan;
Polim, Arie A;
Dwiranti, Astari;
Bowolaksono, Anom

Publication type:

Article

The correlation between morphological parameters and the incidence of de novo chromosomal abnormalities in 3238 biopsied blastocysts.

Published in:

Journal of Assisted Reproduction & Genetics, 2023, v. 40, n. 5, p. 1089, doi. 10.1007/s10815-023-02780-5

By:

Gao, Jiangman;
Wei, Nan;
Zhu, Xiaohui;
Li, Rong;
Yan, Liying;
Qiao, Jie

Publication type:

Article

To mask or not to mask mosaicism? The impact of reporting embryo mosaicism on reproductive potential.

Published in:

Journal of Assisted Reproduction & Genetics, 2022, v. 39, n. 9, p. 2035, doi. 10.1007/s10815-022-02576-z

By:

Armstrong, A.;
Miller, J.;
Quinn, M.;
Nguyen, A. V.;
Kwan, L.;
Kroener, L.

Publication type:

Article

The effect of trophectoderm biopsy technique and sample handling on artefactual mosaicism.

Published in:

Journal of Assisted Reproduction & Genetics, 2022, v. 39, n. 6, p. 1333, doi. 10.1007/s10815-022-02453-9

By:

Coll, Lluc;
Parriego, Mònica;
Carrasco, Beatriz;
Rodríguez, Ignacio;
Boada, Montserrat;
Coroleu, Buenaventura;
Polyzos, Nikolaos P.;
Vidal, Francesca;
Veiga, Anna

Publication type:

Article

Clinical utility of expanded NIPT for chromosomal abnormalities and etiology analysis of cytogenetic discrepancies cases.

Published in:

Journal of Assisted Reproduction & Genetics, 2022, v. 39, n. 1, p. 267, doi. 10.1007/s10815-021-02351-6

By:

Hu, Yue;
Liu, Wen;
He, Guoping;
Xu, Jingjing;
Peng, Yaqin;
Wang, Jing

Publication type:

Article

Preimplantation genetic diagnosis for a carrier with m.3697G > A mitochondrial DNA mutation.

Published in:

Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 12, p. 3251, doi. 10.1007/s10815-021-02354-3

By:

Ji, Dongmei;
Li, Xinyuan;
Pan, Jianxin;
Zong, Kai;
Chen, Dawei;
Marley, Jordan Lee;
Zou, Weiwei;
Deng, Xiaohong;
Cao, Yu;
Zhang, Zhiguo;
Zhou, Ping;
Sha, Hongying;
Cao, Yunxia

Publication type:

Article

From contemplation to classification of chromosomal mosaicism in human preimplantation embryos.

Published in:

Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 11, p. 2833, doi. 10.1007/s10815-021-02304-z

By:

Lebedev, Igor N.;
Zhigalina, Daria I.

Publication type:

Article

Evidence-based clinical prioritization of embryos with mosaic results: a systematic review and meta-analysis.

Published in:

Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 11, p. 2849, doi. 10.1007/s10815-021-02279-x

By:

Mourad, Ali;
Antaki, Roland;
Bissonnette, François;
Al Baini, Obey;
Saadeh, Boutros;
Jamal, Wael

Publication type:

Article

PGT-SR: the red-herring and the siren; interchromosomal effect and screening for unrelated aneuploidy.

Published in:

Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 5, p. 1015, doi. 10.1007/s10815-021-02152-x

By:

Scriven, Paul N.

Publication type:

Article

The reproducibility of trophectoderm biopsies in euploid, aneuploid, and mosaic embryos using independently verified next-generation sequencing (NGS): a pilot study.

Published in:

Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 3, p. 559, doi. 10.1007/s10815-020-01720-x

By:

Sachdev, Nidhee M.;
McCulloh, David H.;
Kramer, Yael;
Keefe, David;
Grifo, James A.

Publication type:

Article

A high level of tetrasomy 9p mosaicism but no clinical manifestations other than moderate oligozoospermia with chromosomally balanced sperm: a case report.

Published in:

Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 3, p. 573, doi. 10.1007/s10815-020-01690-0

By:

Bellil, Hela;
Herve, Bérenice;
Herzog, Elodie;
Ayoubi, Jean-Marc;
Vialard, François;
Poulain, Marine

Publication type:

Article

Chromosomal segregation in sperm of the Robertsonian translocation (21;22) carrier and its impact on IVF outcome.

Published in:

Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 1, p. 231, doi. 10.1007/s10815-019-01648-x

By:

Vujisic, Sanja;
Korac, Petra;
Pavlica, Mirjana;
Vujnovic, Nebojsa;
Dmitrovic, Romana

Publication type:

Article

Correction to: How common is germinal mosaicism that leads to premeiotic aneuploidy in the female?

Published in:

2019

By:

Delhanty, Joy DA;
SenGupta, Sioban B;
Ghevaria, Harita

Publication type:

Correction Notice

How common is germinal mosaicism that leads to premeiotic aneuploidy in the female?

Published in:

Journal of Assisted Reproduction & Genetics, 2019, v. 36, n. 12, p. 2403, doi. 10.1007/s10815-019-01596-6

By:

Delhanty, Joy DA;
SenGupta, Sioban B;
Ghevaria, Harita

Publication type:

Article

Hatching a new plot in reproductive genetics: from mutations to mosaics.

Published in:

2019

By:

Albertini, David F.

Publication type:

Editorial

Minimizing mosaicism: assessing the impact of fertilization method on rate of mosaicism after next-generation sequencing (NGS) preimplantation genetic testing for aneuploidy (PGT-A).

Published in:

Journal of Assisted Reproduction & Genetics, 2019, v. 36, n. 1, p. 153, doi. 10.1007/s10815-018-1347-6

By:

Palmerola, Katherine L.;
Vitez, Sally F.;
Amrane, Selma;
Fischer, Catha P.;
Forman, Eric J.

Publication type:

Article

Rates of live birth after mosaic embryo transfer compared with euploid embryo transfer.

Published in:

Journal of Assisted Reproduction & Genetics, 2019, v. 36, n. 1, p. 165, doi. 10.1007/s10815-018-1322-2

By:

Zhang, Lei;
Wei, Daimin;
Zhu, Yueting;
Gao, Yuan;
Yan, Junhao;
Chen, Zi-Jiang

Publication type:

Article

Natural selection between day 3 and day 5/6 PGD embryos in couples with reciprocal or Robertsonian translocations.

Published in:

Journal of Assisted Reproduction & Genetics, 2017, v. 34, n. 11, p. 1483, doi. 10.1007/s10815-017-1009-0

By:

Beyer, Claire;
Willats, E.

Publication type:

Article

Evaluation of comprehensive chromosome screening platforms for the detection of mosaic segmental aneuploidy.

Published in:

Journal of Assisted Reproduction & Genetics, 2017, v. 34, n. 8, p. 975, doi. 10.1007/s10815-017-0924-4

By:

Goodrich, David;
Xing, Tongji;
Tao, Xin;
Lonczak, Agnieszka;
Zhan, Yiping;
Landis, Jessica;
Zimmerman, Rebekah;
Scott, Richard;
Treff, Nathan

Publication type:

Article

A randomized and blinded comparison of qPCR and NGS-based detection of aneuploidy in a cell line mixture model of blastocyst biopsy mosaicism.

Published in:

Journal of Assisted Reproduction & Genetics, 2016, v. 33, n. 11, p. 1473, doi. 10.1007/s10815-016-0784-3

By:

Goodrich, David;
Tao, Xin;
Bohrer, Chelsea;
Lonczak, Agnieszka;
Xing, Tongji;
Zimmerman, Rebekah;
Zhan, Yiping;
Scott Jr, Richard;
Treff, Nathan

Publication type:

Article

Human embryo mosaicism: did we drop the ball on chromosomal testing?

Published in:

Journal of Assisted Reproduction & Genetics, 2016, v. 33, n. 11, p. 1439, doi. 10.1007/s10815-016-0797-y

By:

Esfandiari, Navid;
Bunnell, Megan;
Casper, Robert

Publication type:

Article

Mired in mosaicism: the perils of genome trivialization.

Published in:

2016

By:

Albertini, David

Publication type:

Editorial

Possible influence of menstrual cycle on lymphocyte X chromosome mosaicism.

Published in:

Journal of Assisted Reproduction & Genetics, 2015, v. 32, n. 1, p. 111, doi. 10.1007/s10815-014-0377-y

By:

Gersak, K.;
Perme-Pohar, M.;
Veble, A.;
Gersak, B.

Publication type:

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

Mosaicism for an unbalanced Y;21 translocation in an infertile man: a case report.

Published in:

2013

By:

Röpke, Albrecht;
Stratis, Yvonne;
Dossow-Scheele, Dajana;
Wieacker, Peter;
Kliesch, Sabine;
Tüttelmann, Frank

Publication type:

Report

Maternal origin of 47,XXY and confined placental mosaicism 47,XXY/48,XXY,+13 in an infant conceived through IVF.

Published in:

2013

By:

Wu, Elizabeth;
Wilson, Andrew;
Wong, Edgar;
Havelock, Jon;
Ma, Sai

Publication type:

Report

45,X mosaicism in northeast China: a clinical report and review of the literature.

Published in:

Journal of Assisted Reproduction & Genetics, 2013, v. 30, n. 3, p. 407, doi. 10.1007/s10815-012-9927-3

By:

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

Publication type:

Article

Application of touch FISH in the study of mosaic tetraploidy and maternal cell contamination in pregnancy losses.

Published in:

Journal of Assisted Reproduction & Genetics, 2010, v. 27, n. 11, p. 657, doi. 10.1007/s10815-010-9460-1

By:

Dória, Sofia;
Lima, Vera;
Carvalho, Berta;
Moreira, Maria;
Sousa, Mário;
Barros, Alberto;
Carvalho, Filipa

Publication type:

Article

Cytogenetic analysis of human embryos and embryonic stem cells derived from monopronuclear zygotes.

Published in:

Journal of Assisted Reproduction & Genetics, 2009, v. 26, n. 11/12, p. 583, doi. 10.1007/s10815-009-9355-1

By:

Hongqing Liao;
Shuoping Zhang;
Dehua Cheng;
Qi OuYang;
Ge Lin;
Yifan Gu;
Changfu Lu;
Fei Gong;
Guangxiu Lu

Publication type:

Article

Extremely skewed X-chromosome inactivation patterns in women with recurrent spontaneous abortion.

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2006, v. 46, n. 5, p. 384, doi. 10.1111/j.1479-828X.2006.00622.x

By:

Bagislar, Sevgi;
Ustuner, Isik;
Cengiz, Bora;
Soylemez, Feride;
Akyerli, Cemaliye Boylu;
Ceylaner, Serdar;
Ceylaner, Gulay;
Acar, Aynur;
Ozcelik, Tayfun

Publication type:

Article

Dilemmas encountered with preimplantation diagnosis of aneuploidy in human embryos.

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2004, v. 44, n. 2, p. 117, doi. 10.1111/j.1479-828X.2004.00198.x

By:

Allan, John;
Edirisinghe, Rohini;
Anderson, Jasen;
Jemmott, Rodney;
Nandini, A. V.;
Gattas, Michael

Publication type:

Article

Revealing of Somatic Mosaicism in Adult Mice by DNA Fingerprinting.

Published in:

Doklady Biochemistry & Biophysics, 2004, v. 398, n. 1-6, p. 300, doi. 10.1023/B:DOBI.0000046643.90690.dd

By:

Ryskov, A. P.;
Martirosyan, I. A.;
Korochkin, L. I.

Publication type:

Article

Genetic Instability of (GATA)n Microsatellite DNA Repeats and Somatic Mosaicism in the Unisexual Lizards Darevskia unisexualis.

Published in:

Doklady Biochemistry & Biophysics, 2003, v. 388, n. 1-6, p. 64, doi. 10.1023/A:1022572932747

By:

Tokarskaya, O. N.;
Darevsky, I. S.;
Martirosyan, I. A.;
Badaeva, T. N.;
Korochkin, L. I.;
Danielyan, F. D.;
Petrosyan, V. G.;
Ryskov, A. P.

Publication type:

Article

Identification of a virus naturally infecting sorghum in India as Sugarcane streak mosaic virus.

Published in:: European Journal of Plant Pathology, 2010, v. 127, n. 1, p. 13, doi. 10.1007/s10658-010-9580-6
Publication type:: Article

First prenatal case of jumping-like translocations: unraveling complex chromosomal rearrangements.

Published in:

2025

By:

Cassinari, Kevin;
Brehin, Anne Claire;
Kundul, Ferdi;
Castelain, Mathieu;
Patrier-Sallebert, Sophie;
Diguet, Alain;
Verspyck, Eric;
Houdayer, Claude;
Joly-Hélas, Géraldine;
Chambon, Pascal

Publication type:

Case Study

First prenatal case of jumping-like translocations: unraveling complex chromosomal rearrangements.

Published in:

2025

By:

Cassinari, Kevin;
Brehin, Anne Claire;
Kundul, Ferdi;
Castelain, Mathieu;
Patrier-Sallebert, Sophie;
Diguet, Alain;
Verspyck, Eric;
Houdayer, Claude;
Joly-Hélas, Géraldine;
Chambon, Pascal

Publication type:

Case Study

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

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