Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

Authors: Sadegheh Haghshenas, Hidde J. Bout, Josephine M. Schijns, Michael A. Levy, Jennifer Kerkhof, Pratibha Bhai, Haley McConkey, Zandra A. Jenkins, Ella M. Williams, Benjamin J. Halliday, Sylvia A. Huisman, Peter Lauffer, Vivian de Waard, Laura Witteveen, Siddharth Banka, Angela F. Brady, Elena Galazzi, Julien van Gils, Anna C.E. Hurst, Frank J. Kaiser, Didier Lacombe, Antonio F. Martinez-Monseny, Patricia Fergelot, Fabíola P. Monteiro, Ilaria Parenti, Luca Persani, Fernando Santos-Simarro, Brittany N. Simpson, Mariëlle Alders, Stephen P. Robertson, Bekim Sadikovic, Leonie A. Menke

Source: HGG Advances, Vol 5, Iss 4, Pp 100337- (2024)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247724000770; https://doaj.org/toc/2666-2477

Access URL: https://doaj.org/article/517d9e08a39d40259779aac3fa7232af

MECP2 Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables

Authors: Lourdes Vega-Hanna, Dídac Casas-Alba, Sol Balsells, Mercè Bolasell, Patricia Rubio, Ana García-García, Oscar García-García, Mar O’Callaghan, Ainhoa Pascual-Alonso, Judith Armstrong, MDS Group, Antonio F. Martinez-Monseny

Source: Diagnostics, Vol 15, Iss 1, p 10 (2024)

Subject Terms: MECP2, MECP2 duplication syndrome, clinical severity scale, facial recognition, artificial intelligence, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.mdpi.com/2075-4418/15/1/10; https://doaj.org/toc/2075-4418

Access URL: https://doaj.org/article/daa5b5324306434089c4813476e47a61

A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)

Authors: Natalia Lourdes Serrano, Victor De Diego, Daniel Cuadras, Antonio F. Martinez Monseny, Ramón Velázquez-Fragua, Laura López, Ana Felipe, Luis G. Gutiérrez-Solana, Alfons Macaya, Belén Pérez-Dueñas, Mercedes Serrano, CDG Spanish-Consortium

Source: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-6 (2017)

Subject Terms: Cerebellum, Congenital disorders of glycosylation, Developmental disorders, Gait disorders/ataxia, ICARS, MRI, Medicine

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-017-0707-0; https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/4c9c403fb4bb417a95c034a61cf6a37c