Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711

Autor: Jiyong Wang, Aidin Foroutan, Ellen Richardson, Steven A. Skinner, Jack Reilly, Jennifer Kerkhof, Cynthia J. Curry, Patrick S. Tarpey, Stephen P. Robertson, Isabelle Maystadt, Boris Keren, Joanne W. Dixon, Cindy Skinner, Rachel Stapleton, Lyse Ruaud, Evren Gumus, Phillis Lakeman, Mariëlle Alders, Matthew L. Tedder, Charles E. Schwartz, Michael J. Friez, Bekim Sadikovic, Roger E. Stevenson

Publikováno v: Wang, J, Foroutan, A, Richardson, E, Skinner, S A, Reilly, J, Kerkhof, J, Curry, C J, Tarpey, P S, Robertson, S P, Maystadt, I, Keren, B, Dixon, J W, Skinner, C, Stapleton, R, Ruaud, L, Gumus, E, Lakeman, P, Alders, M, Tedder, M L, Schwartz, C E, Friez, M J, Sadikovic, B & Stevenson, R E 2022, ' Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711 ', European Journal of Human Genetics, vol. 30, no. 4, pp. 420-427 . https://doi.org/10.1038/s41431-021-01018-1
European journal of human genetics. Nature Publishing Group
European Journal of Human Genetics, 30(4), 420-427. Nature Publishing Group
Eur J Hum Genet
European journal of human genetics, 30(4), 420-427. Nature Publishing Group

ZNF711 is one of eleven zinc-finger genes on the X chromosome that have been associated with X-linked intellectual disability. This association is confirmed by the clinical findings in 20 new cases in addition to 11 cases previously reported. No cons

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a33912da0927c23e3b9a4aee351a59e
https://doi.org/10.1038/s41431-021-01018-1

Familial mental retardation due to a cryptic subtelomeric translocation -del 14qter and dup 9qter (the Anyon phenotype)

Autor: Joanne W. Dixon, R. Brian Lowry, Elizabeth Baker, Lyn Hinton

Publikováno v: Clinical dysmorphology. 16(4)

An example of familial mental retardation is described in which there is a distinctive phenotype. It consists of IQ in the 30-50 range, microcephaly, short stature, narrow skull, prominent ears and nose and a cryptic subtelomeric translocation result

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e16599899be810325e3dc3478414ef3
https://pubmed.ncbi.nlm.nih.gov/17786113

De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.

Autor: Robert McFarland, Denise M. Kirby, Kerry J. Fowler, Akira Ohtake, Michael T. Ryan, David J. Amor, Janice M. Fletcher, Joanne W. Dixon, Felicity A. Collins, Douglass M. Turnbull, Robert W. Taylor

Publikováno v: Annals of Neurology; Jan2004, Vol. 55 Issue 1, p58-64, 7p