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Jun 20, 2020 (publication date) through Nov 6, 2024
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Publication Name
World Journal of Medical Genetics
ISSN
2220-3184
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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
| For: | Fontana P, Passaretti FF, Maioli M, Cantalupo G, Scarano F, Lonardo F. Clinical and molecular spectrum of Wiedemann-Steiner syndrome, an emerging member of the chromatinopathy family. World J Med Genet 2020; 9(1): 1-11 [DOI: 10.5496/wjmg.v9.i1.1] |
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| URL: | https://www.wjgnet.com/2220-3184/full/v9/i1/1.htm |
| Number | Citing Articles |
| 1 |
Jianing Niu, Xiaoming Teng, Junyu Zhang. Aberrant splicing caused by a novel KMT2A variant in Wiedemann–Steiner syndrome. Molecular Genetics & Genomic Medicine 2024; 12(3) doi: 10.1002/mgg3.2415
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| 2 |
Yunting Lin, Xiaohong Chen, Bobo Xie, Zhihong Guan, Xiaodan Chen, Xiuzhen Li, Peng Yi, Rong Du, Huifen Mei, Li Liu, Wen Zhang, Chunhua Zeng. Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome. Frontiers in Genetics 2023; 14 doi: 10.3389/fgene.2023.1085210
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| 3 |
岭 马. A Case of Wiedemann-Steiner Syndrome with Short Stature Caused by a Novel Mutation in KMT2A Gene. Advances in Clinical Medicine 2021; 11(07): 2914 doi: 10.12677/ACM.2021.117422
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| 4 |
Christina Keramida, Ioannis Papoulidis, Elisavet Siomou, Chrisoula Efstathiadou, Yolanda Gyftodimou, Efterpi Pavlidou, Eleftherios Anastasakis, Antonios Garas, Emmanouil Manolakos. Wiedemann‑Steiner syndrome in a 2‑year‑old patient due to a rare nonsense KMT2A mutation of de novo origin: A case report. International Journal of Epigenetics 2024; 4(1) doi: 10.3892/ije.2024.20
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| 5 |
Ibrahim Taha, Federica De Paoli, Selena Foroni, Susanna Zucca, Ivan Limongelli, Marco Cipolli, Cesare Danesino, Ugo Ramenghi, Antonella Minelli. Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene. Genes 2022; 13(8): 1314 doi: 10.3390/genes13081314
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| 6 |
Aidin Foroutan, Sadegheh Haghshenas, Pratibha Bhai, Michael A. Levy, Jennifer Kerkhof, Haley McConkey, Marcello Niceta, Andrea Ciolfi, Lucia Pedace, Evelina Miele, David Genevieve, Solveig Heide, Mariëlle Alders, Giuseppe Zampino, Giuseppe Merla, Mélanie Fradin, Eric Bieth, Dominique Bonneau, Klaus Dieterich, Patricia Fergelot, Elise Schaefer, Laurence Faivre, Antonio Vitobello, Silvia Maitz, Rita Fischetto, Cristina Gervasini, Maria Piccione, Ingrid van de Laar, Marco Tartaglia, Bekim Sadikovic, Anne-Sophie Lebre. Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome. International Journal of Molecular Sciences 2022; 23(3): 1815 doi: 10.3390/ijms23031815
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