Epilepsy and mental retardation limited to females (EFMR) is an intriguing X-linked disorder affecting heterozygous females and sparing hemizygous males. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2010
• March 2010

Paradoxically, rare diseases are common, collectively affecting 6-10% of the population and have a huge impact on patients and families, health services,... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2008
• December 2008

Information on daily seizure occurrence and health service utilization and monthly anti-epileptic drug use was provided on 162 Rett syndrome cases for a... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2007
• September 2007

MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2006
• July 2006

A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT). ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2006
• April 2006

Physical and mental health in mothers of children with Down syndrome. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2008
• September 2008

Scoliosis is a common clinical manifestation of Rett syndrome, a neurodevelopmental disorder that almost exclusively affects girls. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2006
• September 2006

Review of the clinical and biological progress over 50 years in Rett Syndrome ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• January 2017

This study measured use and cost of health sector and related services in Rett syndrome and effects of socio-demographic, clinical severity and genetic factors ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2011
• April 2011

Clinical presentations and genetic variations in Cyclin-dependent kinase-like 5 deficiency disorder based on a systematic literature review and experience ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• August 2019

We aimed to describe birth prevalence of rare craniofacial anomalies and associations with antenatal and perinatal factors. All live and stillbirths in Western Australia between 1980 and 2010 were identified from the Western Australian Birth Registrations and the Midwives Notification System (also provides information on antenatal and perinatal factors). ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• October 2021

Rett syndrome is a severe neurodevelopmental disorder that typically affects females. Little is known about the natural history and survival time of these femal ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2010
• October 2010