PMC Articles for MedGen (Select 61232) - PMC

Giuseppina Conteduca, Davide Cangelosi, Chiara Baldo, Alessia Arado, Barbara Testa, Ryan T. Wagner, Keith D. Robertson, Franck Dequiedt, Lane Fitzsimmons, Michela Malacarne, Gilberto Filaci, Domenico A. Coviello

Genes (Basel) 2024 Sep; 15(9): 1117. Published online 2024 Aug 24. doi: 10.3390/genes15091117

PMCID:: PMC11431170

Article PDF–3.3M

Select item 113934675.

Impact and characterization of serial structural variations across humans and great apes

Wolfram Höps, Tobias Rausch, Michael Jendrusch, Human Genome Structural Variation Consortium (HGSVC), Jan O. Korbel, Fritz J. Sedlazeck

Nat Commun. 2024; 15: 8007. Published online 2024 Sep 13. doi: 10.1038/s41467-024-52027-9

PMCID:: PMC11393467

Article PDF–4.3M

Select item 113682526.

Behavioral Changes in a Pediatric Patient With Sotos Syndrome: A Case Emphasizing the Importance of Coordinated Care

Tristan Hichkad, Emma E Guld, Gabriella Assi

Cureus. 2024 Aug; 16(8): e66093. Published online 2024 Aug 3. doi: 10.7759/cureus.66093

PMCID:: PMC11368252

Article PDF–860K

Select item 112880487.

Natural history in Malan syndrome: survey of 28 adults and literature review

T. N. Huynh, C. G. Delagrammatikas, L. Chiriatti, A. Panfili, K. Ventarola, L. A. Menke, M. Tartaglia, S. A. Huisman, M. Priolo

Orphanet J Rare Dis. 2024; 19: 282. Published online 2024 Jul 29. doi: 10.1186/s13023-024-03288-6

PMCID:: PMC11288048

Article PDF–2.4M

Select item 112387728.

Clinical and genetic characteristics of a child with Sotos syndrome and attention-deficit/hyperactivity disorder: A case report

Ya-Jing Yang, Bei-Yi Li, Ke-Xin Gan, Jing Liu, Xiu-Qin Lv, Dong-Mei Zhang, Hui-Juan Ma

World J Clin Cases. 2024 Aug 6; 12(22): 5131–5139. Published online 2024 Aug 6. doi: 10.12998/wjcc.v12.i22.5131

PMCID:: PMC11238772

Article PDF–2.5M

Select item 112195349.

Electrical Status Epilepticus during Sleep in a Male Filipino with Rare Nonsense Mutation Variant of Sotos Syndrome on Carbamazepine Monotherapy

Jeffrey I. Lappay, Benilda C. Sanchez-Gan, Michelle E. Abadingo

Acta Med Philipp. 2024; 58(4): 83–87. Published online 2024 Mar 15. doi: 10.47895/amp.vi0.3013

PMCID:: PMC11219534

Article PDF–949K

Select item 1114387410.

Epilepsy and overgrowth–intellectual disability syndromes: a patient organization perspective on collaborating to accelerate pathways to treatment

Kerry Grens, Kit M. Church, Eric Diehl, Senyene E. Hunter, Katrina Tatton-Brown, Jill Kiernan, Christal G. Delagrammatikas

Ther Adv Rare Dis. 2024 Jan-Dec; 5: 26330040241254123. Published online 2024 May 31. doi: 10.1177/26330040241254123

PMCID:: PMC11143874

Article PDF–853K

Select item 1113083711.

Clinical Case of Mild Tatton–Brown–Rahman Syndrome Caused by a Nonsense Variant in DNMT3A Gene

Fatima Bostanova, Olga Levchenko, Margarita Sharova, Natalia Semenova

Clin Pract. 2024 Jun; 14(3): 928–933. Published online 2024 May 21. doi: 10.3390/clinpract14030073

PMCID:: PMC11130837

Article PDF–824K

Select item 1111376412.

The role of genetics in the establishment and maintenance of the epigenome

Covadonga Huidobro, Agustin F. Fernandez, Mario F. Fraga

Cell Mol Life Sci. 2013 May; 70(9): 1543–1573. Published online 2013 Mar 10. doi: 10.1007/s00018-013-1296-2

PMCID:: PMC11113764

Article PDF–1.6M

Select item 1107153913.

GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts

Da Wu, Jingye Yang, Cong Liu, Tzung-Chien Hsieh, Elaine Marchi, Justin Blair, Peter Krawitz, Chunhua Weng, Wendy Chung, Gholson J. Lyon, Ian D. Krantz, Jennifer M. Kalish, Kai Wang

Version 2. ArXiv. Preprint. 2024 Apr 22: arXiv:2312.15320v2.

PMCID:: PMC11071539

Article PDF–15M

Select item 1105967414.

Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome

Zhuo Ren, Ling Yue, Hua-ying Hu, Xiao-lin Hou, Wen-qi Chen, Ya Tan, Zhe Dong, Jing Zhang

BMC Med Genomics. 2024; 17: 116. Published online 2024 Apr 29. doi: 10.1186/s12920-024-01889-5

PMCID:: PMC11059674

Article PDF–3.0M

Select item 1105133715.

Neuropsychiatric Aspects of Sotos Syndrome: Explorative Review Building Multidisciplinary Bridges in Clinical Practice

Sigita Lesinskiene, Reda Montvilaite, Kamile Pociute, Ausra Matuleviciene, Algirdas Utkus

J Clin Med. 2024 Apr; 13(8): 2204. Published online 2024 Apr 11. doi: 10.3390/jcm13082204

PMCID:: PMC11051337

Article PDF–207K

Select item 1103225216.

Epigenetic Causes of Overgrowth Syndromes

Julian C Lui, Jeffrey Baron

J Clin Endocrinol Metab. 2024 Feb; 109(2): 312–320. Published online 2023 Jul 14. doi: 10.1210/clinem/dgad420

PMCID:: PMC11032252

Article

Select item 1096894417.

Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome

Giulio Calcagni, Federica Ferrigno, Alessio Franceschini, Maria Lisa Dentici, Rossella Capolino, Lorenzo Sinibaldi, Chiara Minotti, Alessia Micalizzi, Viola Alesi, Antonio Novelli, Anwar Baban, Giovanni Parlapiano, Domenico Coviello, Paolo Versacci, Carolina Putotto, Marcello Chinali, Fabrizio Drago, Andrea Bartuli, Bruno Marino, Maria Cristina Digilio

Diagnostics (Basel) 2024 Mar; 14(6): 594. Published online 2024 Mar 11. doi: 10.3390/diagnostics14060594

PMCID:: PMC10968944

Article PDF–578K

Select item 1092156618.

The first pineoblastoma case report of a patient with Sotos syndrome harboring NSD1 germline mutation

Xizan Yue, Bo Liu, Tiantian Han, Didi Guo, Ran Ding, Guangyu Wang

BMC Pediatr. 2024; 24: 166. Published online 2024 Mar 8. doi: 10.1186/s12887-024-04636-y

PMCID:: PMC10921566

Article PDF–1.1M

Select item 1090465719.

Sleep disturbances and behavioral symptoms in pediatric Sotos syndrome

Ilaria Frattale, Rachele Sarnataro, Martina Siracusano, Assia Riccioni, Cinzia Galasso, Massimiliano Valeriani, Giuseppina Conteduca, Domenico Coviello, Luigi Mazzone, Romina Moavero

Front Neurol. 2024; 15: 1360055. Published online 2024 Feb 16. doi: 10.3389/fneur.2024.1360055