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Valenti, D., Braidy, N., Rasmo, D. D., Signorile, A., Rossi, L., Atanasov, A. G., Volpicella, M., Henrion‐Caude, A., Nabavi, S. M., & Vacca, R. A. (2017) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2017.08.014 · Cited by 96 · see citing works

Down syndrome: Neurobiological alterations and therapeutic targets

Vacca, R. A., Bawari, S., Valenti, D., Tewari, D., Nabavi, S. F., Shirooie, S., Sah, A. N., Volpicella, M., Braidy, N., & Nabavi, S. M. (2019) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2019.01.001 · Cited by 90 · see citing works

Plasma and urinary metabolomic profiles of Down syndrome correlate with alteration of mitochondrial metabolism

Caracausi, M., Ghini, V., Locatelli, C., Mericio, M., Piovesan, A., Antonaros, F., Pelleri, M. C., Vitale, L., Vacca, R. A., Bedetti, F., et al. (2018) · Scientific Reports · doi:10.1038/s41598-018-20834-y · Cited by 84 · see citing works

Systematic identification of human housekeeping genes possibly useful as references in gene expression studies

Caracausi, M., Piovesan, A., Antonaros, F., Strippoli, P., Vitale, L., & Pelleri, M. C. (2017) · Molecular Medicine Reports · doi:10.3892/mmr.2017.6944 · Cited by 81 · see citing works

Immune Dysregulation and the Increased Risk of Complications and Mortality Following Respiratory Tract Infections in Adults With Down Syndrome

Illouz, T., Biragyn, A., Iulita, M. F., Aguilar, L. F., Dierssen, M., Toma, I. D., Antonarakis, S. E., Yu, E. Y., Hérault, Y., Potier, M., et al. (2021) · Frontiers in Immunology · doi:10.3389/fimmu.2021.621440 · Cited by 65 · see citing works

Integrated Quantitative Transcriptome Maps of Human Trisomy 21 Tissues and Cells

Pelleri, M. C., Cattani, C., Vitale, L., Antonaros, F., Strippoli, P., Locatelli, C., Cocchi, G., Piovesan, A., & Caracausi, M. (2018) · Frontiers in Genetics · doi:10.3389/fgene.2018.00125 · Cited by 61 · see citing works

Impact of increased <i>APP</i> gene dose in Down syndrome and the Dp16 mouse model

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All Creatures Great and Small: New Approaches for Understanding Down Syndrome Genetics

Moyer, A. J., Gardiner, K., & Reeves, R. H. (2021) · Trends in Genetics · doi:10.1016/j.tig.2020.09.017 · Cited by 49 · see citing works

Genotype-phenotype correlation for congenital heart disease in Down syndrome through analysis of partial trisomy 21 cases

Pelleri, M. C., Gennari, E., Locatelli, C., Piovesan, A., Caracausi, M., Antonaros, F., Rocca, A., Donati, C. M., Conti, L., Strippoli, P., et al. (2017) · Genomics · doi:10.1016/j.ygeno.2017.06.004 · Cited by 44 · see citing works

Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21

Pelleri, M. C., Cicchini, E., Petersen, M. B., Tranebjærg, L., Mattina, T., Magini, P., Antonaros, F., Caracausi, M., Vitale, L., Locatelli, C., et al. (2019) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.797 · Cited by 40 · see citing works

Plasma metabolome and cognitive skills in Down syndrome

Antonaros, F., Ghini, V., Pulina, F., Ramacieri, G., Cicchini, E., Mannini, E., Martelli, A., Feliciello, A., Lanfranchi, S., Onnivello, S., et al. (2020) · Scientific Reports · doi:10.1038/s41598-020-67195-z · Cited by 40 · see citing works

Is the Age of Developmental Milestones a Predictor for Future Development in Down Syndrome?

Locatelli, C., Onnivello, S., Antonaros, F., Feliciello, A., Filoni, S., Rossi, S., Pulina, F., Marcolin, C., Vianello, R., Toffalini, E., et al. (2021) · Brain Sciences · doi:10.3390/brainsci11050655 · Cited by 32 · see citing works

MTHFR C677T polymorphism analysis: A simple, effective restriction enzyme‐based method improving previous protocols

Antonaros, F., Olivucci, G., Cicchini, E., Ramacieri, G., Pelleri, M. C., Vitale, L., Strippoli, P., Locatelli, C., Cocchi, G., Piovesan, A., et al. (2019) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.628 · Cited by 30 · see citing works

Aging With Down Syndrome: The Dual Diagnosis: Alzheimer’s Disease and Down Syndrome

Cipriani, G., Danti, S., Carlesi, C., & Fiorino, M. D. (2018) · American Journal of Alzheimer s Disease & Other Dementias® · doi:10.1177/1533317518761093 · Cited by 30 · see citing works

Down syndrome and DYRK1A overexpression: relationships and future therapeutic directions

Murphy, A. J., Wilton, S. D., Aung-Htut, M. T., & McIntosh, C. S. (2024) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2024.1391564 · Cited by 27 · see citing works

Genetic and epigenetic pathways in Down syndrome: Insights to the brain and immune system from humans and mouse models

Yu, Y. E., Xing, Z., Do, C., Pao, A., Lee, E. J., Krinsky‐McHale, S. J., Silverman, W. P., Schupf, N., & Tycko, B. (2020) · Progress in brain research · doi:10.1016/bs.pbr.2019.09.002 · Cited by 27 · see citing works

Sleep Disorders in Childhood Neurogenetic Disorders

Dosier, L. B. M., Vaughn, B. V., & Fan, Z. (2017) · Children · doi:10.3390/children4090082 · Cited by 26 · see citing works

Analysis of a nanoparticle‑enriched fraction of plasma reveals miRNA candidates for Down syndrome pathogenesis

Salvi, A., Vezzoli, M., Busatto, S., Paolini, L., Faranda, T., Abeni, E., Caracausi, M., Antonaros, F., Piovesan, A., Locatelli, C., et al. (2019) · International Journal of Molecular Medicine · doi:10.3892/ijmm.2019.4158 · Cited by 25 · see citing works

A molecular view of the normal human thyroid structure and function reconstructed from its reference transcriptome map

Vitale, L., Piovesan, A., Antonaros, F., Strippoli, P., Pelleri, M. C., & Caracausi, M. (2017) · BMC Genomics · doi:10.1186/s12864-017-4049-z · Cited by 22 · see citing works

Human trisomy 21 fibroblasts rescue methotrexate toxic effect after treatment with 5‐methyl‐tetrahydrofolate and 5‐formyl‐tetrahydrofolate

Vitale, L., Serpieri, V., Lauriola, M., Piovesan, A., Antonaros, F., Cicchini, E., Locatelli, C., Cocchi, G., Strippoli, P., & Caracausi, M. (2019) · Journal of Cellular Physiology · doi:10.1002/jcp.28140 · Cited by 21 · see citing works

Emerging Role of Extracellular Vesicles in Intercellular Communication in the Brain: Implications for Neurodegenerative Diseases and Therapeutics

Sarkar, S., & Patranabis, S. (2024) · Cell Biochemistry and Biophysics · doi:10.1007/s12013-024-01221-z · Cited by 21 · see citing works

Genome-wide miRNA profiling in plasma of pregnant women with down syndrome fetuses

Zednikova, I., Chylíková, B., Šeda, O., Korabečná, M., Pazourková, E., Brestak, M., Krkavcová, M., Calda, P., & Hořínek, A. (2020) · Molecular Biology Reports · doi:10.1007/s11033-020-05545-w · Cited by 18 · see citing works

Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22

Schnabel, F., Smogavec, M., Funke, R., Pauli, S., Burfeind, P., & Bartels, I. (2018) · Molecular Cytogenetics · doi:10.1186/s13039-018-0410-4 · Cited by 17 · see citing works

Acquisition of cognitive and communication milestones in infants with Down syndrome

Onnivello, S., Schworer, E. K., Daunhauer, L. A., & Fidler, D. J. (2021) · Journal of Intellectual Disability Research · doi:10.1111/jir.12893 · Cited by 15 · see citing works

Down syndrome: A curative prospect?

Rondal, J. A. (2020) · AIMS neuroscience · doi:10.3934/neuroscience.2020012 · Cited by 14 · see citing works

Genetics and genomics of Down syndrome

Strippoli, P., Pelleri, M. C., Piovesan, A., Caracausi, M., Antonaros, F., & Vitale, L. (2019) · International review of research in developmental disabilities · doi:10.1016/bs.irrdd.2019.06.001 · Cited by 16 · see citing works

Combination of Genetics and Nanotechnology for Down Syndrome Modification: A Potential Hypothesis and Review of the Literature

Tafazoli, A., Behjati, F., Farhud, D. D., & Abbaszadegan, M. R. (2019) · Iranian Journal of Public Health · doi:10.18502/ijph.v48i3.878 · Cited by 15 · see citing works

Structural Characterization of the Highly Restricted Down Syndrome Critical Region on 21q22.13: New KCNJ6 and DSCR4 Transcript Isoforms

Antonaros, F., Pitocco, M., Abete, D., Vione, B., Piovesan, A., Vitale, L., Strippoli, P., Caracausi, M., & Pelleri, M. C. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.770359 · Cited by 14 · see citing works

Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype–phenotype association

Pelleri, M. C., Locatelli, C., Mattina, T., Bonaglia, M. C., Piazza, F., Magini, P., Antonaros, F., Ramacieri, G., Vione, B., Vitale, L., et al. (2022) · BMC Medical Genomics · doi:10.1186/s12920-022-01422-6 · Cited by 17 · see citing works

From understanding to action: Exploring molecular connections of Down syndrome to Alzheimer's disease for targeted therapeutic approach

Sukreet, S., Rafii, M. S., & Rissman, R. A. (2024) · Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring · doi:10.1002/dad2.12580 · Cited by 13 · see citing works

RUNX1 Upregulation Causes Mitochondrial Dysfunction via Regulating the PI3K-Akt Pathway in iPSC from Patients with Down Syndrome

Liu, Y., Zhang, Y., Ren, Z., Zeng, F., & Yan, J. (2023) · Molecules and Cells · doi:10.14348/molcells.2023.2095 · Cited by 13 · see citing works

Noninvasive Prenatal Screening of Fetal Aneuploidy without Massively Parallel Sequencing

Xu, C., Wang, T., Liu, C., Li, H., Chen, X., Zhu, H., Chen, S., Xin, Q., Tao, J., Huang, L., et al. (2017) · Clinical Chemistry · doi:10.1373/clinchem.2016.266247 · Cited by 13 · see citing works

Sequence of Molecular Events in the Development of Alzheimer’s Disease: Cascade Interactions from Beta-Amyloid to Other Involved Proteins

Bagheri, S., Saboury, A. A., & Saso, L. (2024) · Cells · doi:10.3390/cells13151293 · Cited by 12 · see citing works

Profile of down syndrome–associated malignancies: Epidemiology, clinical features and therapeutic aspects

Shimada, A. (2021) · Pediatric Hematology Oncology Journal · doi:10.1016/j.phoj.2021.01.001 · Cited by 12 · see citing works

Drug-Targeted Genomes: Mutability of Ion Channels and GPCRs

Raines, R., McKnight, I., White, H., Legg, K., Lee, C., Li, W., Lee, P. H. U., & Shim, J. W. (2022) · Biomedicines · doi:10.3390/biomedicines10030594 · Cited by 10 · see citing works

GIRK2 Channels in Down Syndrome and Alzheimer’s Disease

Kleschevnikov, A. M. (2022) · Current Alzheimer Research · doi:10.2174/1567205020666221223122110 · Cited by 10 · see citing works

Thrombocytopenia and Predisposition to Acute Myeloid Leukemia due to Mosaic Ring 21 with Loss of RUNX1: Cytogenetic and Molecular Characterization

Vormittag-Nocito, E. R., Ni, H., Schmidt, M. L., & Lindgren, V. (2018) · Molecular Syndromology · doi:10.1159/000494645 · Cited by 10 · see citing works

Enhanced GIRK2 channel signaling in Down syndrome: A feasible role in the development of abnormal nascent neural circuits

Kleschevnikov, A. M. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.1006068 · Cited by 9 · see citing works

One-carbon pathway metabolites are altered in the plasma of subjects with Down syndrome: Relation to chromosomal dosage

Vione, B., Ramacieri, G., Zavaroni, G., Piano, A., Rocca, G. L., Caracausi, M., Vitale, L., Piovesan, A., Gori, C., Pirazzoli, G. L., et al. (2022) · Frontiers in Medicine · doi:10.3389/fmed.2022.1006891 · Cited by 9 · see citing works

Molecular delineation of small supernumerary marker chromosomes using a single nucleotide polymorphism array

Zhou, L., Zheng, Z., Wu, L., Xu, C., Wu, H., Xu, X., & Tang, S. (2020) · Molecular Cytogenetics · doi:10.1186/s13039-020-00486-2 · Cited by 9 · see citing works

Calcineurin inhibition may prevent Alzheimer disease in people with Down syndrome

Dohl, J., Treadwell, Z., Norris, C. M., & Head, E. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70034 · Cited by 6 · see citing works

DYRK1A in blood and immune function: implications in leukemia, inflammatory disorders, infection and Down syndrome

Rozen, E. J., Dowell, R. D., & Allen, M. A. (2025) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2025.1587089 · Cited by 6 · see citing works

Intricacies of aging and Down syndrome

Kozlov, G., Franceschi, C., & Vedunova, M. V. (2024) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2024.105794 · Cited by 6 · see citing works

Autism spectrum disorder, anxiety and severe depression in a male patient with deletion and duplication in the 21q22.3 region: A case report

Orrù, S., Papoulidis, I., Siomou, E., Papadimitriou, D. T., Sotiriou, S., Nikolaidis, P., Eleftheriades, M. I., Papanikolaou, E., Thomaidis, L., & Manolakos, E. (2019) · Biomedical Reports · doi:10.3892/br.2019.1210 · Cited by 6 · see citing works

Investigation of copy number variations on chromosome 21 detected by comparative genomic hybridization (CGH) microarray in patients with congenital anomalies

Li, W., Wang, X., & Li, S. (2018) · Molecular Cytogenetics · doi:10.1186/s13039-018-0391-3 · Cited by 6 · see citing works

Chromosomal and cellular therapeutic approaches for Down syndrome: A research update

Huang, T., Fakurazi, S., Cheah, P.-S., & Ling, K. (2024) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2024.150664 · Cited by 6 · see citing works

Possible roles for the hominoid-specific DSCR4 gene in human cells

Saber, M. M., Karimiavargani, M., Uzawa, T., Hettiarachchi, N., Hamada, M., Ito, Y., & Saitou, N. (2021) · Genes & Genetic Systems · doi:10.1266/ggs.20-00012 · Cited by 5 · see citing works

Difficulty in obtaining the complete mRNA coding sequence at 5′ region (5′ end mRNA artifact): Causes, consequences in biology and medicine and possible solutions for obtaining the actual amino acid sequence of proteins (Review)

Vitale, L., Caracausi, M., Casadei, R., Pelleri, M. C., & Piovesan, A. (2017) · International Journal of Molecular Medicine · doi:10.3892/ijmm.2017.2942 · Cited by 4 · see citing works

Copy number normalization distinguishes differential signals driven by copy number differences in ATAC-seq and ChIP-seq

Su, D., Peters, M. A., Soltys, V., & Chan, Y. F. (2025) · BMC Genomics · doi:10.1186/s12864-025-11442-y · Cited by 4 · see citing works

Rare copy number variation analysis identifies disease-related variants in atrioventricular septal defect patients

Hu, H., Geng, Z., Zhang, S., Xu, Y., Wang, Q., Chen, S., Zhang, B., Sun, K., & Lu, Y. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1075349 · Cited by 3 · see citing works

Total cell N-glycosylation is altered during differentiation of induced pluripotent stem cells to neural stem cells and is disturbed by trisomy 21

Cindrić, A., Vučković, F., Murray, A., Klarić, T., Alić, I., Petrović, D. J., Krištić, J., Nižetić, D., & Lauc, G. (2024) · BBA Advances · doi:10.1016/j.bbadva.2024.100137 · Cited by 4 · see citing works

Copy number variants and fetal growth in stillbirths

Dalton, S., Workalemahu, T., Allshouse, A. A., Pagé, J., Reddy, U. M., Saade, G. R., Pınar, H., Goldenberg, R. L., Dudley, D. J., & Silver, R. M. (2022) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2022.11.1274 · Cited by 4 · see citing works

Serum apelin-12 and obesity-related markers in Egyptian children with Down syndrome

Yahia, S., Salem, N. A., El-Hawary, A. K., Salem, M., El-Farahaty, R. M., El‐Gilany, A., Shoaib, R. M. S., & Noureldin, M. A. (2023) · European Journal of Pediatrics · doi:10.1007/s00431-023-05315-3 · Cited by 4 · see citing works

Early postnatal GABAB antagonist treatment normalizes inhibitory/excitatory balance in neonatal Ts65Dn mice, a genetic model of down syndrome

Jin, J., Doan, J., Fernandez, C., Nguyen, S., Spencer, C., & Kleschevnikov, A. M. (2025) · Experimental Neurology · doi:10.1016/j.expneurol.2025.115171 · Cited by 3 · see citing works

Copy number variation analysis in Chinese children with complete atrioventricular canal and single ventricle

Zhang, X., Wang, B., You, G., Xiang, Y., Yu, Y., Yu, Y., & Zhang, X. (2021) · BMC Medical Genomics · doi:10.1186/s12920-021-01090-y · Cited by 3 · see citing works

A prenatal diagnosis case of partial duplication 21q21.1-q21.2 with normal phenotype maternally inherited

Jin, C., Gu, Z., Jiang, X., Yu, P., & Xu, T. (2021) · BMC Medical Genomics · doi:10.1186/s12920-021-01013-x · Cited by 3 · see citing works

Cross-sectional developmental trajectories in the adaptive functioning of children and adolescents with Down syndrome

Onnivello, S., Locatelli, C., Pulina, F., Ramacieri, G., Marcolin, C., Antonaros, F., Vione, B., Catapano, F., & Lanfranchi, S. (2023) · Research in Developmental Disabilities · doi:10.1016/j.ridd.2023.104641 · Cited by 2 · see citing works

Genetics of Alzheimer's disease in adults with Down syndrome

Lee, J. H., Dang, L. T., Pang, D. I., Krinsky‐McHale, S. J., & Schupf, N. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-818845-3.00001-3 · Cited by 1 · see citing works

A Case of Early Onset Scoliosis with Trisomy 1q and Monosomy 21q

Fukase, Y., Watanabe, K., Takeda, K., Okubo, T., Suzuki, S., Tsuji, O., Nagoshi, N., Yagi, M., & Nakamura, M. (2024) · Spine Surgery and Related Research · doi:10.22603/ssrr.2024-0099 · Cited by 1 · see citing works

A CNV Catalogue

Wyandt, H. E., Wilson, G. N., & Tonk, V. S. (2017) · Springer eBooks · doi:10.1007/978-981-10-3035-2_10 · Cited by 1 · see citing works

Contributions of the neurological examination to the diagnosis of dementia in Down syndrome

Lott, I. T., Rosas, H. D., Lai, F., & Zaman, S. H. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-818845-3.00003-7 · Cited by 1 · see citing works

Partial trisomy 21 with or without highly restricted-Down syndrome critical region (HR- DSCR). Report of two new cases and reanalysis of the genotype-phenotype associationPreprint

Pelleri, M. C., Locatelli, C., Mattina, T., Bonaglia, M. C., Piazza, F., Magini, P., Antonaros, F., Ramacieri, G., Vione, B., Vitale, L., et al. (2022) · Research Square · doi:10.21203/rs.3.rs-2324513/v1 · Cited by 1 · see citing works

Congenital Heart Disease and Surgical Outcome in Down Syndrome

Alsuhaymi, Z. S. (2021) · IntechOpen eBooks · doi:10.5772/intechopen.97134

Down Syndrome

Wahłsten, D. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-812832-9.00012-9

Care of Adults With Down Syndrome: The Nurse Practitioner Perspective

Gonzaga, C. G., & Winokur, E. J. (2022) · The Journal for Nurse Practitioners · doi:10.1016/j.nurpra.2022.06.012

Biomarcadores amiloidogênicos na síndrome de Down

Bram, J. M. D. F. (2023) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.5.2023.tde-20092023-163847

Ring Chromosome 21

Zhang, H., & Chai, H. (2024) · Springer eBooks · doi:10.1007/978-3-031-47530-6_25

Acquired Ring Chromosomes in Tumors of Hematopoietic and Lymphoid Tissues

Zou, Y. S., Achi, H. E., Tang, G., Phan, B., Phan, M., Anderson, T. N., & Murry, J. B. (2024) · Springer eBooks · doi:10.1007/978-3-031-47530-6_31

Down Syndrome – A Case of Oral Reflection

Gopal, K. S., & Kanimozhi, R. (2025) · Oral Health Research and Clinical Evidence · doi:10.4103/orcl.orcl_11_24

Animal models in epigenetic research

Carrera, I., Naidoo, V., Martínez-Iglesias, O. A., & Cacabelos, R. (2025) · Elsevier eBooks · doi:10.1016/b978-0-443-18722-3.00022-0

Prenatal diagnosis of partial duplication chromosome 21q11.2–21q21.1: A case report and literature review

Tanaka, A., Higeta, D., Toyoda, K., Morita, A., Sato, T., & Iwase, A. (2025) · Taiwanese Journal of Obstetrics and Gynecology · doi:10.1016/j.tjog.2024.10.027

Étude du neurodéveloppement et de l'infertilité masculine chez différents modèles murins de Trisomie 21

Dard, R. (2024) · doi:10.70675/a4b3d243zd280z49b8zb850z350254dce74c

Epilepsy in patients with Down syndrome (literature review and clinical cases)

Bobylova, M. Y., Бурд, С. Г., Tomenko, T. R., Rakhmanina, О. A., Казбулатовна, Г. З., Yamin, M. A., & Вячеславович, М. А. (2026) · Russian Journal of Child Neurology · doi:10.17650/2073-8803-2026-21-2-80-96

Genome‐Wide NIPT With Fetal‐Fraction Enrichment and BinDel: Clinical Cohort Evaluation of Microdeletion and ‐Duplication Detection

Vaiküll, K., Paluoja, P., Mölder, S., Gryshchenko, V., Tõnisson, N., Salumets, A., & Krjutškov, K. (2026) · Prenatal Diagnosis · doi:10.1002/pd.70286

Dynamic tissue-specific mosaicism in constitutional non-supernumerary ring chromosome 21 with a Down syndrome-like phenotype: a case report and genotype-phenotype analysis

Anaya, D. M., Sainas, A. Z., Cruz, M. C., Yanez‐Felix, A. L., Labadía, C. S., Barcenas, C. A. O., Sánchez, D. A. S., Rebollar, E. Y., & Pérez‐Vera, P. (2026) · Frontiers in Genetics · doi:10.3389/fgene.2026.1958717

Highly restricted Down syndrome critical region identified on human chromosome 21.

Pelleri, M. C., LOCATELLI, C., Vitale, L., Caracausi, M., Piovesan, A., ROCCA, A., Poletti, G., Seri, M., Cocchi, G., Strippoli, P., et al. (2016) · Archivio istituzionale della ricerca (Alma Mater Studiorum Università di Bologna)

Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21

Pelleri, M. C., Cicchini, E., Petersen, M. B., Tranebjærg, L., Mattina, T., Magini, P., Antonaros, F., Caracausi, M., Vitale, L., Locatelli, C., et al. (2019) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.797 · Cited by 40 · see citing works

Partial trisomy 21 with or without highly restricted-Down syndrome critical region (HR- DSCR). Report of two new cases and reanalysis of the genotype-phenotype associationPreprint

Pelleri, M. C., Locatelli, C., Mattina, T., Bonaglia, M. C., Piazza, F., Magini, P., Antonaros, F., Ramacieri, G., Vione, B., Vitale, L., et al. (2022) · Research Square · doi:10.21203/rs.3.rs-2324513/v1 · Cited by 1 · see citing works

Mapping of the down syndrome phenotype on chromosome 21 at the molecular level

Sinet, P., Theophile, D., Rahmani, Z., Chettouh, Z., Blouin, J., Prieur, M., Noël, B., & Delabar, J. M. (1994) · Biomedicine & Pharmacotherapy · doi:10.1016/0753-3322(94)90140-6 · Cited by 98 · see citing works

A de novo 2.78-Mb duplication on chromosome 21q22.11 implicates candidate genes in the partial trisomy 21 phenotype

Weisfeld‐Adams, J. D., Tkachuk, A. K., Maclean, K. N., Meeks, N. J. L., & Scott, S. A. (2016) · npj Genomic Medicine · doi:10.1038/npjgenmed.2016.3 · Cited by 13 · see citing works