PCDH19-related infantile epileptic encephalopathy: An unusual X-linked inheritance disorder
出版年份 2012 全文链接
标题
PCDH19-related infantile epileptic encephalopathy: An unusual X-linked inheritance disorder
作者
关键词
-
出版物
HUMAN MUTATION
Volume 33, Issue 4, Pages 627-634
出版商
Wiley
发表日期
2012-01-20
DOI
10.1002/humu.22029
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Identification of genomic deletions spanning thePCDH19gene in two unrelated girls with intellectual disability and seizures
- (2011) AK Vincent et al. CLINICAL GENETICS
- Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations
- (2011) Nicola Specchio et al. EPILEPSIA
- The genetics of Dravet syndrome
- (2011) Carla Marini et al. EPILEPSIA
- Protocadherin 19 mutations in girls with infantile-onset epilepsy
- (2011) R. Nabbout et al. NEUROLOGY
- Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations
- (2011) L. M. Dibbens et al. NEUROLOGY
- Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome
- (2010) Seema M. Jamal et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Adhesion properties and retinofugal expression of chicken protocadherin-19
- (2010) Kiyoto Tai et al. BRAIN RESEARCH
- Absence of Layer-Specific Cadherin Expression Profiles in the Neocortex of the Reeler Mutant Mouse
- (2010) Nicole Hertel et al. CEREBRAL CORTEX
- A familial form of convulsive disorder with or without mental retardation limited to females: extension of a pedigree limits possible genetic mechanisms
- (2010) Keith Fabisiak et al. CLINICAL GENETICS
- Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females
- (2010) Christel Depienne et al. HUMAN MUTATION
- Protocadherin-19 and N-cadherin interact to control cell movements during anterior neurulation
- (2010) Sayantanee Biswas et al. JOURNAL OF CELL BIOLOGY
- Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome
- (2010) C. Depienne et al. JOURNAL OF MEDICAL GENETICS
- Protocadherin 19 mutations in girls with infantile-onset epilepsy
- (2010) C. Marini et al. NEUROLOGY
- The expression of non-clustered protocadherins in adult rat hippocampal formation and the connecting brain regions
- (2010) S.Y. Kim et al. NEUROSCIENCE
- Cadherin expression in the somatosensory cortex: evidence for a combinatorial molecular code at the single-cell level
- (2010) K. Krishna-K et al. NEUROSCIENCE
- Protocadherin-19 is essential for early steps in brain morphogenesis
- (2009) Michelle R. Emond et al. DEVELOPMENTAL BIOLOGY
- Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families
- (2009) K. Hynes et al. JOURNAL OF MEDICAL GENETICS
- A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
- (2009) Patrick S Tarpey et al. NATURE GENETICS
- Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females
- (2009) Christel Depienne et al. PLoS Genetics
- Epilepsy and mental retardation limited to females: an under-recognized disorder
- (2008) Ingrid E. Scheffer et al. BRAIN
- Layer-Specific Expression of Multiple Cadherins in the Developing Visual Cortex (V1) of the Ferret
- (2008) Krishna-K et al. CEREBRAL CORTEX
- The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis
- (2008) C. F. Wright et al. HUMAN REPRODUCTION UPDATE
- X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
- (2008) Leanne M Dibbens et al. NATURE GENETICS
- Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry
- (2008) E. M. Morrow et al. SCIENCE
- No evidence that skewing of X chromosome inactivation patterns is transmitted to offspring in humans
- (2007) Véronique Bolduc et al. JOURNAL OF CLINICAL INVESTIGATION
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now