Works matching Mosaicism

Results: 5000

Mosaicism in Short Tandem Repeat Disorders: A Clinical Perspective.

Published in:

Genes, 2025, v. 16, n. 2, p. 216, doi. 10.3390/genes16020216

By:

Doss, Rose M.;
Lopez-Ignacio, Susana;
Dischler, Anna;
Hiatt, Laurel;
Dashnow, Harriet;
Breuss, Martin W.;
Dias, Caroline M.

Publication type:

Article

Mosaicism for Autosomal Trisomies: A Comprehensive Analysis of 1266 Published Cases Focusing on Maternal Age and Reproductive History.

Published in:

Genes, 2024, v. 15, n. 6, p. 778, doi. 10.3390/genes15060778

By:

Kovaleva, Natalia V.;
Cotter, Philip D.

Publication type:

Article

The Clinical Manifestation and Genetic Evaluation in Patients with 45,X/46,XY Mosaicism.

Published in:

Sexual Development, 2017, v. 11, n. 2, p. 64, doi. 10.1159/000455260

By:

Wu, Qinghua;
Wang, Cong;
Shi, Huirong;
Kong, Xiangdong;
Ren, Shumin;
Jiang, Miao

Publication type:

Article

Genetic mosaicism in haemophilia: A practical review to help evaluate the risk of transmitting the disease.

Published in:

Haemophilia, 2020, v. 26, n. 3, p. 375, doi. 10.1111/hae.13975

By:

Lannoy, Nathalie;
Hermans, Cedric

Publication type:

Article

Inheritance of a t(13;14)(q10;q10) Robertsonian translocation with a low level of trisomy 13 mosaicism.

Published in:

2010

By:

Jenderny, Jutta;
Schmidt, Winfried;
Bartsch, Oliver

Publication type:

journal article

Confined placental mosaicism of Duchenne muscular dystrophy: a case report.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00520-3

By:

Winerdal, Max;
Westenius, Eini;
Granfors, Michaela;
Pettersson, Maria;
Iwarsson, Erik

Publication type:

Article

Low-level 45,X/46, XX mosaicism is not associated with congenital heart disease and thoracic aorta dilatation:prospective magnetic resonance imaging and ultrasound study.

Published in:

Ultrasound in Obstetrics & Gynecology, 2015, v. 45, n. 6, p. 722, doi. 10.1002/uog.14627

By:

Klásková, E.;
Tüdös, Z.;
Sobek, A.;
Zapletalová, J.;
Dostál, J.;
Zbořilová, B.;
Adamová, K.;
Lattová, V.;
Dostálová, Z.;
Procházka, M.

Publication type:

Article

Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villi.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 3, p. 282, doi. 10.1038/sj.ejhg.5201564

By:

Grati, Francesca R.;
Grimi, Beatrice;
Frascoli, Giuditia;
Di Meco, Anna Maria;
Liuti, Rosaria;
Milani, Silvia;
Trotta, Anna;
Dulcetti, Francesca;
Grosso, Enrico;
Miozzo, Monica;
Maggi, Federico;
Simoni, Giuseppe

Publication type:

Article

Chromosomal mosaicisms in prenatal diagnosis: correlation with first trimester screening and clinical outcome.

Published in:

Journal of Perinatal Medicine, 2012, v. 40, n. 3, p. 215, doi. 10.1515/jpm.2011.130

By:

Eckmann-Scholz, Christel;
Mallek, Julia;
Von Kaisenberg, Constantin S.;
Arnold, Norbert K.;
Jonat, Walter;
Reiner, Siebert;
Caliebe, Almuth;
Heidemann, Simone

Publication type:

Article

Modified Rules for Classification of Variants Associated With Disorders of Somatic Mosaicism.

Published in:

Clinical Genetics, 2025, v. 107, n. 3, p. 261, doi. 10.1111/cge.14636

By:

Leon‐Quintero, Fernando Zazueta;
Bowling, Kevin M.;
Dickson, Alexa;
Corliss, Meagan M.;
Schroeder, Molly C.;
Neidich, Julie A.;
Heusel, Jonathan W.;
Krysiak, Kilannin;
Polonis, Katarzyna;
Parikh, Bijal A.;
Cao, Yang

Publication type:

Article

Autosomal dominant polycystic kidney disease caused by somatic and germline mosaicism.

Published in:

Clinical Genetics, 2015, v. 87, n. 4, p. 373, doi. 10.1111/cge.12383

By:

Tan, A.Y.;
Blumenfeld, J.;
Michaeel, A.;
Donahue, S.;
Bobb, W.;
Parker, T.;
Levine, D.;
Rennert, H.

Publication type:

Article

Threshold of somatic mosaicism leading to brain dysfunction with focal epilepsy.

Published in:

Brain: A Journal of Neurology, 2024, v. 147, n. 9, p. 2983, doi. 10.1093/brain/awae190

By:

Kim, Jintae;
Park, Sang Min;
Koh, Hyun Yong;
Ko, Ara;
Kang, Hoon-Chul;
Chang, Won Seok;
Kim, Dong Seok;
Lee, Jeong Ho

Publication type:

Article

Case report: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism in PIK3CD-related activated PI3K delta syndrome.

Published in:

Frontiers in Immunology, 2024, p. 01, doi. 10.3389/fimmu.2024.1451212

By:

Orellana, Halyn;
Jia Yan;
Paul, Alex;
Mari Tokita;
Yan Ding;
Ghosh, Rajarshi;
Lewis, Katie L.;
Davis;
Jamal, Leila;
Jodarski, Colleen;
Similuk, Morgan;
Saucier, Nermina;
Zhanyang Zhu;
Yihe Wang;
Sitao Wu;
Ruggieri, Jason;
Su, Helen C.;
Uzel, Gulbu;
Nahas, Shareef;
Cooper, Megan

Publication type:

Article

Low-frequency mosaicism in cryopyrin-associated periodic fever syndrome: mosaicism in systemic autoinflammatory diseases.

Published in:

International Immunology, 2019, v. 31, n. 10, p. 649, doi. 10.1093/intimm/dxz047

By:

Nishikomori, Ryuta;
Izawa, Kazushi;
Kambe, Naotomo;
Ohara, Osamu;
Yasumi, Takahiro

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

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

The birth of a baby with mosaicism resulting from a known mosaic embryo transfer: a case report.

Published in:

2020

By:

Kahraman, Semra;
Cetinkaya, Murat;
Yuksel, Beril;
Yesil, Mesut;
Cetinkaya, Caroline Pirkevi;
Pirkevi Cetinkaya, Caroline

Publication type:

journal article

Multi‐exon COL5A1 deletion in a child with classical Ehlers–Danlos syndrome: A case report expanding the allelic spectrum and showing evidence of parental gonosomal mosaicism.

Published in:

2022

By:

Strang‐Karlsson, Sonja;
Keigwin, Sylvia;
Anttonen, Anna‐Kaisa;
Baker, Duncan;
Bean, Kerry;
Jakkula, Eveliina

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

<italic>ENG</italic> mutational mosaicism in a family with hereditary hemorrhagic telangiectasia.

Published in:

Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 1, p. 121, doi. 10.1002/mgg3.361

By:

Tørring, Pernille M.;
Kjeldsen, Anette D.;
Ousager, Lilian Bomme;
Brusgaard, Klaus

Publication type:

Article

Pigmentary mosaicism as a recurrent clinical manifestation in three new patients with mosaic trisomy 12 diagnosed postnatally: cases report and literature review.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01382-x

By:

Martínez-Hernández, A.;
Martínez-Anaya, D.;
Durán-McKinster, C.;
Del Castillo-Ruiz, V.;
Navarrete-Meneses, P.;
Córdova, E. J.;
Villegas-Torres, B. E.;
Ruiz-Herrera, A.;
Juárez-Velázquez, R.;
Yokoyama-Rebollar, E.;
Cervantes-Barragán, D.;
Pedraza-Meléndez, A.;
Orozco, L.;
Pérez-Vera, P.;
Salas-Labadía, C.

Publication type:

Article

Clinical Utility of Chromosomal Microarray Analysis of DNA from Buccal Cells: Detection of Mosaicism in Three Patients.

Published in:

Journal of Genetic Counseling, 2014, v. 23, n. 6, p. 922, doi. 10.1007/s10897-014-9751-2

By:

Sdano, Mallory;
Vanzo, Rena;
Martin, Megan;
Baldwin, Erin;
South, Sarah;
Rope, Alan;
Allen, William;
Kearney, Hutton

Publication type:

Article

MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males.

Published in:

BMC Medicine, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12916-023-02846-2

By:

Wen, Yongxin;
Wang, Jiaping;
Zhang, Qingping;
Yang, Xiaoxu;
Wei, Liping;
Bao, Xinhua

Publication type:

Article

Prenatal diagnosis of 45,X/46,XY mosaicism with cleft lip and epispadias.

Published in:

2011

By:

Barone, Chiara;
Bartoloni, Giovanni;
Cataliotti, Antonella;
Indaco, Lara;
Pappalardo, Elisa;
Barrano, Barbara;
Ettore, Giuseppe;
Bianca, Sebastiano

Publication type:

journal 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

Paternal Low-Level Mosaicism-Caused SATB2 -Associated Syndrome.

Published in:

Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00630

By:

Qian, Yeqing;
Liu, Jiao;
Yang, Yanmei;
Chen, Min;
Jin, Chunlei;
Chen, Penglong;
Lei, Yongliang;
Pan, Hangyi;
Dong, Minyue

Publication type:

Article

Optic Disc Coloboma and Localized Chorioretinal Defects in Constitutional Partial Trisomy 8 Mosaicism

Published in:

Ophthalmic Genetics, 2006, v. 27, n. 3, p. 103, doi. 10.1080/13816810600862543

By:

Taban, Mehryar;
Marcotty, Andreas;
Traboulsi, Elias I.

Publication type:

Article

Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature.

Published in:

Genes, 2024, v. 15, n. 3, p. 346, doi. 10.3390/genes15030346

By:

Trevisan, Valentina;
Meroni, Anna;
Leoni, Chiara;
Sirchia, Fabio;
Politano, Davide;
Fiandrino, Giacomo;
Giorgio, Valentina;
Rigante, Donato;
Limongelli, Domenico;
Perri, Lucrezia;
Sforza, Elisabetta;
Leonardi, Francesca;
Viscogliosi, Germana;
Contaldo, Ilaria;
Orteschi, Daniela;
Proietti, Luca;
Zampino, Giuseppe;
Onesimo, Roberta

Publication type:

Article

Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review.

Published in:

2022

By:

Gómez-Rodríguez, Maria Jose;
Morales-Conejo, Montserrat;
Arteche-López, Ana;
Sánchez-Calvín, Maria Teresa;
Quesada-Espinosa, Juan Francisco;
Gómez-Manjón, Irene;
Palma-Milla, Carmen;
Lezana-Rosales, Jose Miguel;
Pérez de la Fuente, Ruben;
Martin-Ramos, Maria-Luisa;
Fernández-Guijarro, Manuela;
Moreno-García, Marta;
Alvarez-Mora, Maria Isabel

Publication type:

Case Study

An Adolescent Boy with Klinefelter Syndrome and 47,XXY/46,XX Mosaicism: Case Report and Review of Literature.

Published in:

2022

By:

Hovnik, Tinka;
Zitnik, Eva;
Avbelj Stefanija, Magdalena;
Bertok, Sara;
Sedej, Katarina;
Bancic Silva, Vesna;
Battelino, Tadej;
Groselj, Urh

Publication type:

Case Study

Fetal Megalencephaly with Cortical Dysplasia at 18 Gestational Weeks Related to Paternal UPD Mosaicism with PTEN Mutation.

Published in:

Genes, 2021, v. 12, n. 3, p. 358, doi. 10.3390/genes12030358

By:

Pooh, Ritsuko Kimata;
Machida, Megumi;
Imoto, Issei;
Arai, Eri Noel;
Ohashi, Hiroyasu;
Takeda, Masayoshi;
Shimokawa, Osamu;
Fukuta, Kaori;
Shiozaki, Arihiro;
Saito, Shigeru;
Chiyo, Hideaki;
Choy, Richard

Publication type:

Article

Characteristics of the IVF Cycle that Contribute to the Incidence of Mosaicism.

Published in:

Genes, 2020, v. 11, n. 10, p. 1151, doi. 10.3390/genes11101151

By:

Rodrigo, Lorena;
Clemente-Císcar, Mónica;
Campos-Galindo, Inmaculada;
Peinado, Vanessa;
Simón, Carlos;
Rubio, Carmen

Publication type:

Article

Optimized NGS Approach for Detection of Aneuploidies and Mosaicism in PGT-A and Imbalances in PGT-SR.

Published in:

Genes, 2020, v. 11, n. 7, p. 724, doi. 10.3390/genes11070724

By:

García-Pascual, Carmen M.;
Navarro-Sánchez, Luis;
Navarro, Roser;
Martínez, Lucía;
Jiménez, Jorge;
Rodrigo, Lorena;
Simón, Carlos;
Rubio, Carmen

Publication type:

Article

Illegitimate and Repeated Genomic Integration of Cell-Free Chromatin in the Aetiology of Somatic Mosaicism, Ageing, Chronic Diseases and Cancer.

Published in:

Genes, 2019, v. 10, n. 6, p. 407, doi. 10.3390/genes10060407

By:

V. Raghuram, Gorantla;
Chaudhary, Shahid;
Johari, Shweta;
Mittra, Indraneel

Publication type:

Article

Ontogenetic and Pathogenetic Views on Somatic Chromosomal Mosaicism.

Published in:

Genes, 2019, v. 10, n. 5, p. 379, doi. 10.3390/genes10050379

By:

Iourov, Ivan Y.;
Vorsanova, Svetlana G.;
Yurov, Yuri B.;
Kutsev, Sergei I.

Publication type:

Article

Somatic Mosaicism in the Human Genome.

Published in:

Genes, 2014, v. 5, n. 4, p. 1064, doi. 10.3390/genes5041064

By:

Freed, Donald;
Stevens, Eric L.;
Pevsner, Jonathan

Publication type:

Article

Detection of Germline Mosaicism for Robertsonian Translocation 14;14: A Case Report.

Published in:

Journal of Reproduction & Infertility, 2024, v. 25, n. 1, p. 66, doi. 10.18502/jri.v25i1.15202

By:

Gonzalez, Xavier Viñals;
Mora, Francisca;
Arshad, Falak;
Yiping Zhang;
Babariya, Dhruti;
Wells, Dagan;
Tozer, Amanda

Publication type:

Article

The Mosaicism Ratio of 45,X May Explain the Phenotype in a Case of Mixed Gonadal Dysgenesis.

Published in:

Sexual Development, 2018, v. 12, n. 4, p. 175, doi. 10.1159/000489451

By:

Hatano, Megumi;
Fukuzawa, Ryuji;
Hasegawa, Yukihiro

Publication type:

Article

Mosaicism and phenotype in ring chromosome 20 syndrome.

Published in:

Acta Neurologica Scandinavica, 2005, v. 111, n. 3, p. 205, doi. 10.1111/j.1600-0404.2005.00298.x

By:

Nishiwaki, T.;
Hirano, M.;
Kumazawa, M.;
Ueno, S.

Publication type:

Article

Limited somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions identified by small pool PCR in blood leukocytes.

Published in:

Acta Neurologica Scandinavica, 2001, v. 103, n. 3, p. 188, doi. 10.1034/j.1600-0404.2001.103003188.x

By:

Hellenbroich, Y.;
Schwinger, E.;
Zühlke, CH.

Publication type:

Article

Somatic Instability Leading to Mosaicism in Fragile X Syndrome and Associated Disorders: Complex Mechanisms, Diagnostics, and Clinical Relevance.

Published in:

International Journal of Molecular Sciences, 2024, v. 25, n. 24, p. 13681, doi. 10.3390/ijms252413681

By:

Protic, Dragana;
Polli, Roberta;
Bettella, Elisa;
Usdin, Karen;
Murgia, Alessandra;
Tassone, Flora

Publication type:

Article

Case Report of Suspected Gonadal Mosaicism in FOXP1 -Related Neurodevelopmental Disorder.

Published in:

International Journal of Molecular Sciences, 2024, v. 25, n. 11, p. 5709, doi. 10.3390/ijms25115709

By:

Zsigmond, Anna;
Till, Ágnes;
Bene, Judit;
Czakó, Márta;
Mikó, Alexandra;
Hadzsiev, Kinga

Publication type:

Article

Absence of Missense Variant Detection in Inherited Dysfibrinogenemia May Result from a Poor Raw Data Analysis Algorithm or Mosaicism.

Published in:

2023

By:

De Mazancourt, Philippe;
Mazoyer, Elisabeth;
Hormi, Myriam;
Hanss, Michel

Publication type:

Case Study

Pseudomonas Phage MD8: Genetic Mosaicism and Challenges of Taxonomic Classification of Lambdoid Bacteriophages.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 19, p. 10350, doi. 10.3390/ijms221910350

By:

Evseev, Peter;
Lukianova, Anna;
Sykilinda, Nina;
Gorshkova, Anna;
Bondar, Alexander;
Shneider, Mikhail;
Kabilov, Marsel;
Drucker, Valentin;
Miroshnikov, Konstantin

Publication type:

Article

Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 5, p. 2616, doi. 10.3390/ijms22052616

By:

Mangin, Antoine;
de Pontual, Laure;
Tsai, Yu-Chih;
Monteil, Laetitia;
Nizon, Mathilde;
Boisseau, Pierre;
Mercier, Sandra;
Ziegle, Janet;
Harting, John;
Heiner, Cheryl;
Gourdon, Geneviève;
Tomé, Stéphanie;
Tegeder, Irmgard

Publication type:

Article

Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele.

Published in:

2013

By:

Reiterová, Jana;
Štekrová, Jitka;
Merta, Miroslav;
Kotlas, Jaroslav;
Elišáková, Veronika;
Lněnička, Petr;
Korabečná, Marie;
Kohoutová, Milada;
Tesař, Vladimír

Publication type:

Case Study

A study of aneuploidy and DNA fragmentation in spermatozoa of three men with sex chromosome mosaicism including a 45,X cell line.

Published in:

Human Fertility, 2015, v. 18, n. 2, p. 96, doi. 10.3109/14647273.2014.988663

By:

Nguyen, Minh Huong;
Morel, Frederic;
Bujan, Louis;
May-Panloup, Pascale;
De Braekeleer, Marc;
Perrin, Aurore

Publication type:

Article

Methylation Status of the Chromosome Arm 19q MicroRNA Cluster in Sporadic and Androgenetic-Biparental Mosaicism- Associated Hepatic Mesenchymal Hamartoma.

Published in:

Pediatric & Developmental Pathology, 2015, v. 18, n. 3, p. 218, doi. 10.2350/15-01-1600-OA.1

By:

KELLER, RACHEL B.;
EL DEMELLAWY, DINA;
QUAGLIA, ALBERTO;
FINEGOLD, MILTON;
KAPUR, RAJ P.

Publication type:

Article

Placental Mesenchymal Dysplasia and Fetal Renal-Hepatic-Pancreatic Dysplasia: Androgenetic-Biparental Mosaicism and Pathogenesis of an Autosomal Recessive Disorder.

Published in:

Pediatric & Developmental Pathology, 2013, v. 16, n. 3, p. 191, doi. 10.2350/12-12-1281-OA.1

By:

KAPUR, RAJ P.;
COLE, BONNIE;
MIN ZHANG;
JINGXIAN LIN;
FLIGNER, CORINNE L.

Publication type:

Article

Occult Androgenetic-Biparental Mosaicism and Sporadic Hepatic Mesenchymal Hamartoma.

Published in:

Pediatric & Developmental Pathology, 2011, v. 14, n. 5, p. 360, doi. 10.2350/11-03-0999-OA.1

By:

Lin, Jingxian;
Cole, Bonnie L;
Qin, Xuan;
Zhang, Min;
Kapur, Raj P

Publication type:

Article