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Select item 115702281.

The effects of mosaicism on biological and clinical markers of Alzheimer's disease in adults with Down syndrome

Laura Xicota, Lam-Ha T. Dang, Alice Lee, Sharon Krinsky-McHale, Deborah Pang, Lisa Melilli, Sid O'Bryant, Rachel L. Henson, Charles Laymon, Florence Lai, H. Diana Rosas, Beau Ances, Ira Lott, Christy Hom, Bradley Christian, Sigan Hartley, Shahid Zaman, Elizabeth Head, Mark Mapstone, Zhezhen Jin, Wayne Silverman, Nicole Schupf, Benjamin Handen, Joseph H. Lee, Alzheimer's Biomarker Consortium – Down Syndrome (ABC-DS)

eBioMedicine. 2024 Dec; 110: 105433. Published online 2024 Nov 4. doi: 10.1016/j.ebiom.2024.105433

PMCID:: PMC11570228

Article PDF–233K

Select item 110894932.

Short report: Twins with 20p13 duplication. Case report and comprehensive literature review

Benjamin J. Kennedy, Sarah K. Savage, Stephen G. Kaler

Mol Genet Genomic Med. 2024 May; 12(5): e2436. Published online 2024 May 13. doi: 10.1002/mgg3.2436

PMCID:: PMC11089493

Article PDF–1.2M

Select item 110210093.

Clinical outcomes of screen-positive genome-wide cfDNA cases for trisomy 20: results from the global expanded NIPT Consortium

Erica Soster, Tamara Mossfield, Melody Menezes, Gloudi Agenbag, Marie-Line Dubois, Jean Gekas, Tristan Hardy, Kelly Loggenberg, on behalf of the Global Expanded NIPT Consortium

Mol Cytogenet. 2024; 17: 9. Published online 2024 Apr 16. doi: 10.1186/s13039-024-00677-1

PMCID:: PMC11021009

Article PDF–945K

Select item 109844254.

Down Syndrome Biobank Consortium: A perspective

Iban Aldecoa, Isabel Barroeta, Steven L. Carroll, Juan Fortea, Anah Gilmore, Stephen D. Ginsberg, Samuel J. Guzman, Eric D. Hamlett, Elizabeth Head, Sylvia E. Perez, Huntington Potter, Laura Molina‐Porcel, Ruma Raha‐Chowdhury, Thomas Wisniewski, William H. Yong, Shahid Zaman, Sujay Ghosh, Elliott J. Mufson, Ann‐Charlotte Granholm

Alzheimers Dement. 2024 Mar; 20(3): 2262–2272. Published online 2024 Jan 25. doi: 10.1002/alz.13692

PMCID:: PMC10984425

Article PDF–8.1M

Select item 109369125.

Birth after low-level +20 Aneuploid Mosaic Embryo Transfer: A Case Report

Marta Ribeiro Hentschke, Aline Petracco Petzold, Isadora Badalotti-Teloken, Victória Campos Dornelles, Fabiana Mariani Wingert, Ricardo Azambuja, Maria Teresa Vieira Sanseverino, Alvaro Petracco, Mariangela Badalotti

JBRA Assist Reprod. 2024 Jan-Mar; 28(1): 203–205. doi: 10.5935/1518-0557.20230055

PMCID:: PMC10936912

Article PDF–134K

Select item 101313046.

Alagille-like syndrome with surprising karyotype: a case report

S. Amimoto, M. Ishii, K. Tanaka, S. Araki, M. Kuwamura, S. Suga, E. Kondo, E. Shibata, K. Kusuhara, K. Yoshino

J Med Case Rep. 2023; 17: 186. Published online 2023 Apr 26. doi: 10.1186/s13256-023-03810-7

PMCID:: PMC10131304

Article PDF–1.2M

Select item 101152367.

The genomic landscape across 474 surgically accessible epileptogenic human brain lesions

Javier A López-Rivera, Costin Leu, Marie Macnee, Jean Khoury, Lucas Hoffmann, Roland Coras, Katja Kobow, Nisha Bhattarai, Eduardo Pérez-Palma, Hajo Hamer, Sebastian Brandner, Karl Rössler, Christian G Bien, Thilo Kalbhenn, Tom Pieper, Till Hartlieb, Elizabeth Butler, Giulio Genovese, Kerstin Becker, Janine Altmüller, Lisa-Marie Niestroj, Lisa Ferguson, Robyn M Busch, Peter Nürnberg, Imad Najm, Ingmar Blümcke, Dennis Lal

Brain. 2023 Apr; 146(4): 1342–1356. Published online 2022 Oct 13. doi: 10.1093/brain/awac376

PMCID:: PMC10115236

Article PDF–1.4M

Select item 100839698.

Identification of a candidate sex determination gene in Culaea inconstans suggests convergent recruitment of an Amh duplicate in two lineages of stickleback

Daniel L. Jeffries, Jonathan A. Mee, Catherine L. Peichel

J Evol Biol. 2022 Dec; 35(12): 1683–1695. Published online 2022 Jul 11. doi: 10.1111/jeb.14034

PMCID:: PMC10083969

Article PDF–4.3M

Select item 94985469.

Genome Wide Analysis of Family-1 UDP Glycosyltransferases in Populus trichocarpa Specifies Abiotic Stress Responsive Glycosylation Mechanisms

Hafiz Mamoon Rehman, Uzair Muhammad Khan, Sehar Nawaz, Fozia Saleem, Nisar Ahmed, Iqrar Ahmad Rana, Rana Muhammad Atif, Nabeel Shaheen, Hyojin Seo

Genes (Basel) 2022 Sep; 13(9): 1640. Published online 2022 Sep 13. doi: 10.3390/genes13091640

PMCID:: PMC9498546

Article PDF–4.9M

Select item 862249810.

Additional Evidence for Neuropsychiatric Manifestations in Mosaic Trisomy 20: A Case Report and Brief Review

Marco Colizzi, Giulia Antolini, Laura Passarella, Valentina Rizzo, Elena Puttini, Leonardo Zoccante

Children (Basel) 2021 Nov; 8(11): 1030. Published online 2021 Nov 10. doi: 10.3390/children8111030

PMCID:: PMC8622498

Article PDF–694K

Select item 845769211.

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

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

Mol Genet Genomic Med. 2021 Sep; 9(9): e1762. Published online 2021 Jul 20. doi: 10.1002/mgg3.1762

PMCID:: PMC8457692

Article PDF–854K

Select item 840422212.

Interstitial duplication of 20q11.22q13.11: A case report and review of literature

Logan Goetzinger, Rachel D. Starks, Kyle Dillahunt, Heather Major, Jaime M. Nagy, Alpa Sidhu

Mol Genet Genomic Med. 2021 Aug; 9(8): e1755. Published online 2021 Jul 16. doi: 10.1002/mgg3.1755

PMCID:: PMC8404222

Article PDF–632K

Select item 816546513.

Nanopore Sequencing Indicates That Tandem Amplification of Chromosome 20q11.21 in Human Pluripotent Stem Cells Is Driven by Break-Induced Replication

Jason A. Halliwell, Duncan Baker, Kim Judge, Michael A. Quail, Karen Oliver, Emma Betteridge, Jason Skelton, Peter W. Andrews, Ivana Barbaric

Stem Cells Dev. June 01, 2021; 30(11): 578–586. Published online 2021 May 25. doi: 10.1089/scd.2021.0013

PMCID:: PMC8165465

Article PDF–858K

Select item 805829314.

Are paternal or grandmaternal age associated with higher probability of trisomy 21 in offspring? A population-based, matched case-control study, 1995-2015

Karen C. Schliep, Marcia L. Feldkamp, Heidi A. Hanson, Michael Hollingshaus, Alison Fraser, Ken R. Smith, Katherine A. Panushka, Michael W. Varner

Paediatr Perinat Epidemiol. Author manuscript; available in PMC 2021 May 1.

Published in final edited form as: Paediatr Perinat Epidemiol. 2020 Dec 1 : 10.1111/ppe.12737. Published online 2020 Dec 1. doi: 10.1111/ppe.12737

PMCID:: PMC8058293

Article PDF–283K

Select item 727550615.

Clinical performance of non-invasive prenatal served as a first-tier screening test for trisomy 21, 18, 13 and sex chromosome aneuploidy in a pilot city in China

Yanhui Liu, Hailiang Liu, Yi He, Wanfang Xu, Qiulin Ma, Yuzhen He, Wei Lei, Guoquan Chen, Zheng He, Jiayi Huang, Jianan Liu, Yuanru Liu, Quanfei Huang, Fubing Yu

Hum Genomics. 2020; 14: 21. Published online 2020 Jun 5. doi: 10.1186/s40246-020-00268-2

PMCID:: PMC7275506

Article PDF–595K

Select item 726500016.

Ebstein anomaly associated with cri du chat (cat’s cry) syndrome and 20q duplication

Alberto Olivella, Hernan Manotas, César Payán-Gómez, Juan Gabriel Piñeros

BMJ Case Rep. 2020; 13(6): e233766. Published online 2020 Jun 1. doi: 10.1136/bcr-2019-233766

PMCID:: PMC7265000

Article PDF–202K

Select item 675231517.

Mosaic Turner syndrome shows reduced penetrance in an adult population study

Marcus A. Tuke, Katherine S. Ruth, Andrew R. Wood, Robin N. Beaumont, Jessica Tyrrell, Samuel E. Jones, Hanieh Yaghootkar, Claire L. S. Turner, Mollie E. Donohoe, Antonia M. Brooke, Morag N. Collinson, Rachel M. Freathy, Michael N. Weedon, Timothy M. Frayling, Anna Murray

Genet Med. 2019; 21(4): 877–886. Published online 2018 Sep 5. doi: 10.1038/s41436-018-0271-6

PMCID:: PMC6752315

Article PDF–1.5M

Select item 589061418.

Placental Pathology in Placental Mesenchymal Dysplasia with 13q12.11 Deletion and a 25-Week Gestation Female Infant

Sheryl L. Johnson, Lauren C. Walters-Sen, Jerzy W. Stanek

Am J Case Rep. 2018; 19: 369–373. Published online 2018 Mar 29. doi: 10.12659/AJCR.907329

PMCID:: PMC5890614

Article PDF–2.2M

Select item 583532619.

Adenocarcinoma and polyposis of the colon in a 20-year-old patient with Trisomy 13: a case report

Danielle P. Thurtle, Michael B. Huck, Kristen A. Zeller, Tamison Jewett

J Med Case Rep. 2018; 12: 56. Published online 2018 Mar 4. doi: 10.1186/s13256-018-1600-8

PMCID:: PMC5835326

Article PDF–876K

Select item 543314320.

Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects

Takanobu Inoue, Akie Nakamura, Tomoko Fuke, Kazuki Yamazawa, Shinichiro Sano, Keiko Matsubara, Seiji Mizuno, Yoshika Matsukura, Chie Harashima, Tatsuji Hasegawa, Hisakazu Nakajima, Kumi Tsumura, Zenro Kizaki, Akira Oka, Tsutomu Ogata, Maki Fukami, Masayo Kagami

Clin Epigenetics. 2017; 9: 52. Published online 2017 May 15. doi: 10.1186/s13148-017-0350-6

PMCID:: PMC5433143

Article PDF–1.1M

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