Concepedia

9 Mb familial duplication in chromosome band Xp22.2–22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features

Carolina Sismani, Violetta Anastasiadou, Ludmila Kousoulidou, Sven Parkel, George Koumbaris, Olga Žilina, Stavros Bashiardes, Elena Spanou, Ants Kurg, Philippos C. Patsalis

European Journal of Medical Genetics · 2011 · 52 citations · 12 references

References

12

Mutations in the X-Linked Cyclin-Dependent Kinase–Like 5 (CDKL5/STK9) Gene Are Associated with Severe Neurodevelopmental Retardation

Jiong Tao, Hilde Van Esch, M. Hagedorn-Greiwe et al. · The American Journal of Human Genetics · 2004 · 323 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation

Kathryn P. Burdon, James McKay, Michèle M. Sale et al. · The American Journal of Human Genetics · 2003 · 140 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Monogenic X-linked mental retardation: Is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations

Jean‐Louis Mandel, Jamel Chelly · European Journal of Human Genetics · 2004 · 121 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH

Dorien Lugtenberg · Journal of Medical Genetics · 2005 · 97 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Characterization of interstitial Xp duplications in two families by tiling path array CGH

Andreas Tzschach, Wei Chen, Fikret Erdogan et al. · American Journal of Medical Genetics Part A · 2007 · 71 citations

Life Sciences, Genetics, Molecular Genetics +16